Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Abnormality, Congenital | NOTCH1 | group | C0000768 | Biomarker | 0.4 | disgenet |
Abnormality, Congenital | NOTCH1 | group | C0000768 | GeneticVariation | 0.4 | disgenet |
Abnormality, Congenital | EYA1 | group | C0000768 | Biomarker | 0.35 | disgenet |
Abnormality, Congenital | EYA1 | group | C0000768 | GeneticVariation | 0.35 | disgenet |
Abnormality, Congenital | EYA1 | group | C0000768 | AlteredExpression | 0.35 | disgenet |
Abnormality, Congenital | SALL1 | group | C0000768 | GeneticVariation | 0.35 | disgenet |
Abnormality, Congenital | SIX1 | group | C0000768 | Biomarker | 0.35 | disgenet |
Abnormality, Congenital | SIX1 | group | C0000768 | AlteredExpression | 0.35 | disgenet |
Abnormality, Congenital | SALL1 | group | C0000768 | Biomarker | 0.35 | disgenet |
Abnormality, Congenital | SIX1 | group | C0000768 | GeneticVariation | 0.35 | disgenet |
Abnormality, Congenital | SALL1 | group | C0000768 | AlteredExpression | 0.35 | disgenet |
Abnormality, Congenital | DLL3 | group | C0000768 | Biomarker | 0.33 | disgenet |
Abnormality, Congenital | DLL3 | group | C0000768 | GeneticVariation | 0.33 | disgenet |
Abnormality, Congenital | FMR1 | group | C0000768 | Biomarker | 0.33 | disgenet |
Abnormality, Congenital | FMR1 | group | C0000768 | GeneticVariation | 0.33 | disgenet |
Abnormality, Congenital | FOLR1 | group | C0000768 | Biomarker | 0.31 | disgenet |
Abnormality, Congenital | FOLR1 | group | C0000768 | AlteredExpression | 0.31 | disgenet |
Abnormality, Congenital | COL8A1 | group | C0000768 | Biomarker | 0.3 | disgenet |
Abnormality, Congenital | GRK2 | group | C0000768 | Biomarker | 0.3 | disgenet |
Abnormality, Congenital | KLF4 | group | C0000768 | Biomarker | 0.3 | disgenet |
Abnormality, Congenital | SLC31A1 | group | C0000768 | Biomarker | 0.3 | disgenet |
Abnormality, Congenital | PAX6 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | HTC2 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | TBX5 | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | TBX5 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | PAX6 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | ZEB2 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | FOXL2 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | FOXL2 | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | CHD7 | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | HTC2 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | FOXC1 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | DHCR7 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | CHD7 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | DHCR7 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | TBX5 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | CHD7 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | G6PC3 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | DHCR7 | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | RPS19 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | VEGFA | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | RPS19 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | HNF1B | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | G6PC3 | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | RET | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | PAX2 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | TUBA1A | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | FOXC1 | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | G6PC3 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | PAFAH1B1 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | MTHFR | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | MTHFR | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | FGFR2 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | VEGFA | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | TBX1 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | FOXC1 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | NHLH1 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | TUBA1A | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | FGFR2 | group | C0000768 | AlteredExpression | 0.1 | disgenet |
Abnormality, Congenital | HNF1B | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | VEGFA | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | NHLH1 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | MTHFR | group | C0000768 | PosttranslationalModification | 0.1 | disgenet |
Abnormality, Congenital | FGFR2 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | RET | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | PAFAH1B1 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | TBX1 | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | PAX2 | group | C0000768 | Biomarker | 0.1 | disgenet |
Abnormality, Congenital | RET | group | C0000768 | GeneticVariation | 0.1 | disgenet |
Abnormality, Congenital | SOX2 | group | C0000768 | AlteredExpression | 0.09 | disgenet |
Abnormality, Congenital | SOX2 | group | C0000768 | GeneticVariation | 0.09 | disgenet |
Abnormality, Congenital | SOX2 | group | C0000768 | Biomarker | 0.09 | disgenet |
Abnormality, Congenital | ACE | group | C0000768 | AlteredExpression | 0.08 | disgenet |
Abnormality, Congenital | TP53 | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | TP53 | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | ACE | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | PITX2 | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | PITX2 | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | ACE | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | ACTB | group | C0000768 | GeneticVariation | 0.08 | orphanet , disgenet |
Abnormality, Congenital | MTOR | group | C0000768 | AlteredExpression | 0.08 | disgenet |
Abnormality, Congenital | MTOR | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | ACVR1 | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | WT1 | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | ACTB | group | C0000768 | Biomarker | 0.08 | orphanet , disgenet |
Abnormality, Congenital | WT1 | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | FGFR3 | group | C0000768 | AlteredExpression | 0.08 | disgenet |
Abnormality, Congenital | CITED2 | group | C0000768 | AlteredExpression | 0.08 | disgenet |
Abnormality, Congenital | GLI3 | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | GLI3 | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | FGFR3 | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | MTOR | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | CITED2 | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | CITED2 | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | TBX3 | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | WT1 | group | C0000768 | AlteredExpression | 0.08 | disgenet |
Abnormality, Congenital | FGFR3 | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | GLI3 | group | C0000768 | AlteredExpression | 0.08 | disgenet |
Abnormality, Congenital | TBX3 | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | KMT2D | group | C0000768 | Biomarker | 0.08 | disgenet |
Abnormality, Congenital | KMT2D | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | ACVR1 | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | DCX | group | C0000768 | GeneticVariation | 0.08 | disgenet |
Abnormality, Congenital | TBX6 | group | C0000768 | GeneticVariation | 0.07 | disgenet |
Abnormality, Congenital | TSC2 | group | C0000768 | Biomarker | 0.07 | disgenet |
Abnormality, Congenital | TBX6 | group | C0000768 | Biomarker | 0.07 | disgenet |
Abnormality, Congenital | BMP4 | group | C0000768 | AlteredExpression | 0.07 | disgenet |
Abnormality, Congenital | TSC2 | group | C0000768 | GeneticVariation | 0.07 | disgenet |
Abnormality, Congenital | SHH | group | C0000768 | AlteredExpression | 0.07 | disgenet |
Abnormality, Congenital | BMP4 | group | C0000768 | Biomarker | 0.07 | disgenet |
Abnormality, Congenital | SHH | group | C0000768 | Biomarker | 0.07 | disgenet |
Abnormality, Congenital | SHH | group | C0000768 | GeneticVariation | 0.07 | disgenet |
Abnormality, Congenital | BMP4 | group | C0000768 | GeneticVariation | 0.07 | disgenet |
Abnormality, Congenital | AR | group | C0000768 | AlteredExpression | 0.07 | disgenet |
Abnormality, Congenital | AR | group | C0000768 | GeneticVariation | 0.07 | disgenet |
Abnormality, Congenital | AR | group | C0000768 | Biomarker | 0.07 | disgenet |
Abnormality, Congenital | SLC26A4 | group | C0000768 | Biomarker | 0.07 | disgenet |
Abnormality, Congenital | SLC26A4 | group | C0000768 | GeneticVariation | 0.07 | disgenet |
Abnormality, Congenital | ARTN | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | ARTN | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | TP63 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | TSC1 | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | TSC1 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | GATA4 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | AGRP | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | TP63 | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | NKX2-5 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | AGRP | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | SALL4 | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | SALL4 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | HOXD13 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | GATA4 | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | GATA4 | group | C0000768 | AlteredExpression | 0.06 | disgenet |
Abnormality, Congenital | HOXD13 | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | MECP2 | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | MECP2 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | FLNA | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | FLNA | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | MID1 | group | C0000768 | AlteredExpression | 0.06 | disgenet |
Abnormality, Congenital | RTTN | group | C0000768 | Biomarker | 0.06 | orphanet , disgenet |
Abnormality, Congenital | MID1 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | RTTN | group | C0000768 | GeneticVariation | 0.06 | orphanet , disgenet |
Abnormality, Congenital | GH1 | group | C0000768 | Biomarker | 0.06 | disgenet |
Abnormality, Congenital | GH1 | group | C0000768 | GeneticVariation | 0.06 | disgenet |
Abnormality, Congenital | UVRAG | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | FOXF1 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | KRIT1 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | KRIT1 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | FOXF1 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | KRIT1 | group | C0000768 | AlteredExpression | 0.05 | disgenet |
Abnormality, Congenital | UVRAG | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | RPE65 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | PIK3CA | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | TGFA | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | ZIC2 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | TGFA | group | C0000768 | AlteredExpression | 0.05 | disgenet |
Abnormality, Congenital | PIK3CG | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | PIK3CA | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | PIK3CA | group | C0000768 | PosttranslationalModification | 0.05 | disgenet |
Abnormality, Congenital | PIK3CG | group | C0000768 | PosttranslationalModification | 0.05 | disgenet |
Abnormality, Congenital | RPE65 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | ABCB1 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | ARX | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | PKHD1 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | PIK3CD | group | C0000768 | PosttranslationalModification | 0.05 | disgenet |
Abnormality, Congenital | RPL5 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | ARX | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | PIK3CG | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | PIK3CD | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | OTX2 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | CKAP4 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | ZIC2 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | TEF | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | ADGRG1 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | STRA6 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | PIK3CB | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | ADGRG1 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | ABCB1 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | TGFB1 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | PKHD1 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | RPL5 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | PIK3CB | group | C0000768 | PosttranslationalModification | 0.05 | disgenet |
Abnormality, Congenital | STRA6 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | EFNB1 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | PIK3CB | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | PIK3CD | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | CKAP4 | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | TGFA | group | C0000768 | GeneticVariation | 0.05 | disgenet |
Abnormality, Congenital | TGFB1 | group | C0000768 | AlteredExpression | 0.05 | disgenet |
Abnormality, Congenital | EFNB1 | group | C0000768 | Biomarker | 0.05 | disgenet |
Abnormality, Congenital | ACVRL1 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | ACVRL1 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | PPARG | group | C0000768 | AlteredExpression | 0.04 | disgenet |
Abnormality, Congenital | TNF | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | ZIC1 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | FGF10 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | TUBB2B | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | TNF | group | C0000768 | AlteredExpression | 0.04 | disgenet |
Abnormality, Congenital | PPARG | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | TUBB2B | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | PAX3 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | FGF10 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | DYNC1H1 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | FGF10 | group | C0000768 | AlteredExpression | 0.04 | disgenet |
Abnormality, Congenital | PAX3 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | PAX3 | group | C0000768 | AlteredExpression | 0.04 | disgenet |
Abnormality, Congenital | TNF | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | PTEN | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | RECQL4 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | MSX1 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | RECQL4 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | CDKN1C | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | CFTR | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | FLNB | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | ZIC1 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | MSX1 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | ALX3 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | GJB2 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | FLNB | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | CDKN1C | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | COL4A1 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | AKT3 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | SOX4 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | JAG1 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | OFD1 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | HFM | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | GJB2 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | CFTR | group | C0000768 | AlteredExpression | 0.04 | disgenet |
Abnormality, Congenital | CFTR | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | PTEN | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | SOX4 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | JAG1 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | DNMT3B | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | DNMT3B | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | RPL11 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | CHDH | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | KATNB1 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | ALX3 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | DYNC1H1 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | ZIC3 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | OFD1 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | RELN | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | ZIC3 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | GATA6 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | GATA6 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | KATNB1 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | RELN | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | CDKN1C | group | C0000768 | AlteredExpression | 0.04 | disgenet |
Abnormality, Congenital | CHST14 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | CHST14 | group | C0000768 | Biomarker | 0.04 | disgenet |
Abnormality, Congenital | COL4A1 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | RPL11 | group | C0000768 | GeneticVariation | 0.04 | disgenet |
Abnormality, Congenital | GPC3 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | NOG | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | PIGN | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | IRF6 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | ALDH2 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | PIGN | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | NCL | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | IRF6 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | GREM1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | FGF8 | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | YWHAE | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | MTHFD1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | TRPS1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | FGF8 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | ALDH2 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | YWHAE | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | KRAS | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | TRPS1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | NOG | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | MTHFD1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | YWHAE | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | PAX8 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | KRAS | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | GREM1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | RNU4ATAC | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | NCL | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | PAX8 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | ISL1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | PRNP | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | ISL1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | ISL1 | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | PTPN11 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | GSTK1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | NR2E1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | GPC3 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | NIPBL | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | CHRD | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | NF1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | RIPK4 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | CAT | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | TWIST1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | CAT | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | IL10 | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | BMP2 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | CTNNB1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | CASK | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | NPHP1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | HEY2 | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | USP9X | group | C0000768 | GeneticVariation | 0.03 | orphanet , disgenet |
Abnormality, Congenital | TWIST1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | KRAS | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | SLCO6A1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | SLCO6A1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | FOXO1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | CTNNB1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | PTPN11 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | PRNP | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | CREBBP | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | NR2E1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | CREBBP | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | PBX1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | PIGO | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | LIG4 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | SIX2 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | HEY2 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | NIPBL | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | ANOS1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | BMP2 | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | AFP | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | FBN1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | AKT1 | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | AKT1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | HEY2 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | SOX11 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | PBX1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | PIGO | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | SIX2 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | DGCR | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | IL10 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | AHR | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | ZIC5 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | CHRD | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | RIPK4 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | COL3A1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | GSTK1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | FGF3 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | AKT1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | ACTG1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | HNF4A | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | RNU4ATAC | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | COL3A1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | ACHE | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | TGIF1 | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | NPHP1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | AHR | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | FTO | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | AHR | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | PROKR2 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | GSC | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | NSD2 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | AFP | group | C0000768 | AlteredExpression | 0.03 | disgenet |
Abnormality, Congenital | ACTG1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | SOX9 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | TUBB3 | group | C0000768 | GeneticVariation | 0.03 | orphanet , disgenet |
Abnormality, Congenital | BBS2 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | GSC | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | NAT1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | BBS2 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | NAT1 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | LIG4 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | SOX9 | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | KMT2B | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | AVP | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | TUBB3 | group | C0000768 | Biomarker | 0.03 | orphanet , disgenet |
Abnormality, Congenital | ENG | group | C0000768 | Biomarker | 0.03 | disgenet |
Abnormality, Congenital | ZIC5 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | TGIF1 | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | HNF4A | group | C0000768 | GeneticVariation | 0.03 | disgenet |
Abnormality, Congenital | KCNMA1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PIGV | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PIGV | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | WDR35 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | TCOF1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PCSK5 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CYP2B6 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | ERF | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | MNX1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PLAGL1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | HOXD@ | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CASP3 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | EP300 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | OSR1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | MED13L | group | C0000768 | AlteredExpression | 0.02 | orphanet , disgenet |
Abnormality, Congenital | TCOF1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | EPO | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MTR | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | IFNG | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SLC12A3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SOST | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | IFNG | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | OSR1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SLC25A13 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | KIT | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ARSD | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PLAGL1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | NECTIN1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SLC12A3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | ELN | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PCSK5 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | BRCA1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | SLC35A3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | AGTR2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SERPINC1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PHOX2B | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | BRD2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | GSTP1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PGPEP1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | ELN | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | HAND1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | FOXN3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | LAMB1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | LAMB1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | C2CD3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | FOXN3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | GLUL | group | C0000768 | Biomarker | 0.02 | orphanet , disgenet |
Abnormality, Congenital | EMX2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PTBP1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | IH | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PTCH1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CDKN2A | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SOD1 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | SIX3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | SLC25A13 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PRRX1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | GSTT1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | KCNMA1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PTBP1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | RMDN1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | POMT1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | C2CD3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SHFL1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MED13L | group | C0000768 | GeneticVariation | 0.02 | orphanet , disgenet |
Abnormality, Congenital | PCDH19 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | SMCHD1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | NOS3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | HESX1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | CFC1 | group | C0000768 | GeneticVariation | 0.02 | orphanet , disgenet |
Abnormality, Congenital | FGF7 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | TTF2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | FGF7 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | AGTR2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | SLC46A1 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | EDA | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | THPO | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | EMX2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PGD | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | BRCA2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | NTN1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | L1CAM | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PDXP | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PAX1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | BMP1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | DEPDC5 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PTHLH | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | GLUL | group | C0000768 | GeneticVariation | 0.02 | orphanet , disgenet |
Abnormality, Congenital | INSR | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | PRCP | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | NEUROG3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | FOXE1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | STRADA | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | INSR | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | HAND1 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | SIRT6 | group | C0000768 | Biomarker | 0.02 | orphanet , disgenet |
Abnormality, Congenital | PGPEP1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SIX3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SMOC1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | STRADA | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | NPHP3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | FGFR1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CHUK | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | EDA | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | TBX2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | GAS1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | NPHP3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | POU1F1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CHUK | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | LAMC2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | CTCF | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | CFC1 | group | C0000768 | AlteredExpression | 0.02 | orphanet , disgenet |
Abnormality, Congenital | TEK | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | VWF | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MESP2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | BMP7 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PDCD10 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | LAMC2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | RERE | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | HESX1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | LMX1A | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | DSPP | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CYP1B1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PLG | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | EDN1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PRL | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | S1PR2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PACS2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SERPINC1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | GATA3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | NKX2-6 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | LMX1A | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | GSTM1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | GJA1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | WIPF2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SYBU | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ZRS | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | ESR1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | RAC1 | group | C0000768 | Biomarker | 0.02 | orphanet , disgenet |
Abnormality, Congenital | NHS | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ABO | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | BMP1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | TBX22 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | HOXA13 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CRKL | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | FANCC | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | SLC46A1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | SHOX | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | POMT2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | SIRT6 | group | C0000768 | GeneticVariation | 0.02 | orphanet , disgenet |
Abnormality, Congenital | RERE | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PACS2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PRCP | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MEF2C | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SLPI | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | ROS1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PORCN | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | L1CAM | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | MTRR | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PRL | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | TSHR | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | WDR62 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | DAG1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | RPS6KA3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | NRXN1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | TBX2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | TCF4 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | SMCHD1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ESR1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | MNX1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | TSHR | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CASP3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ABO | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PAX1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | EBP | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | ATRX | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | ATRX | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ZRS | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MEF2C | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PROP1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | SLPI | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | DHCR24 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SUB1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MYH6 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | RMDN2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | GJA5 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | REN | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | GJA1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | BDNF | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | NEUROG3 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | REN | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SMOC1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PCDH19 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | HSP90AA1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | RAC1 | group | C0000768 | GeneticVariation | 0.02 | orphanet , disgenet |
Abnormality, Congenital | SRPX2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | MYH6 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | NRXN1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | CD34 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | SRPX2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PHOX2A | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | FANCC | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | DEPDC5 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PTK7 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | H19-ICR | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | CRKL | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ROS1 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | WDR62 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | GDNF | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | BRAF | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | MPZL2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | GATA3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | AHI1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CELSR1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | IGF1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | MED12 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CSF2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MSX2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | FANCA | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | TBL1XR1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PAX7 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | BDNF | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | NKX2-1 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | AXIN2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | RMDN3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MPZL2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ETS1 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | CELSR1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | TRPV4 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | NR3C1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | CSF2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | TCF4 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | MED12 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | HAND2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | BICD2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | CD34 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | DHCR24 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | ETS1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | TBCE | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | FANCD2 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | SOD2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | INSL3 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | PMP22 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PTBP2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | KIF2A | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | PTBP2 | group | C0000768 | GeneticVariation | 0.02 | disgenet |
Abnormality, Congenital | IGF1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | FANCD2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | SOD2 | group | C0000768 | AlteredExpression | 0.02 | disgenet |
Abnormality, Congenital | NKX2-1 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | PAX7 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | RIPPLY3 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | ESR2 | group | C0000768 | Biomarker | 0.02 | disgenet |
Abnormality, Congenital | FOXC2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | IDS | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MYMX | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | BCAS2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CST3 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | RAB23 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PRKAR2A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TUBB | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ACD | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TOMM7 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ARL13B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CDK13 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | AXL | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MAPRE2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CRBN | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRKCA | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | DUX4 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | PAPOLA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CCND1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ACP1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CHD8 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RAI1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | QRSL1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SMAD3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | WNT3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SPATA7 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CDC42 | group | C0000768 | Biomarker | 0.01 | orphanet , disgenet |
Abnormality, Congenital | WNT3A | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | POU5F1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SHFM3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | AKAP12 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | EIF6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TIMM8A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GHR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | COL4A2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SLCO2A1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ROR2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRMT7 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | BMPR1B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | FRMD7 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | POLR1B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KDM6A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | KRT18 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | VLDLR | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | FECD3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ELMO2 | group | C0000768 | GeneticVariation | 0.01 | orphanet , disgenet |
Abnormality, Congenital | TECR | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | UPK3A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | EMX1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FBLN7 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LIFR | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ZNF148 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NFIA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NOTCH3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MEMO1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CA1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRKD1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | THBD | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LETM1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HIRA | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HNF1A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MRPS30 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NAT10 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NOA1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | AMBP | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LHX1 | group | C0000768 | PosttranslationalModification | 0.01 | disgenet |
Abnormality, Congenital | ADORA2A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NDC1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DLX6 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | GLDC | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GLI2 | group | C0000768 | GeneticVariation | 0.01 | orphanet , disgenet |
Abnormality, Congenital | PSEN1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | GLS2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PGR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CSE1L | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PQBP1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TRPV3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | WNT5A | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | NXPH1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CHAT | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | OXTR | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ITPR1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ARID1B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ARSH | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HBS1L | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HDAC4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HSPA1B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FST | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | UNC80 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | XIST | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SCAF11 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | KLK4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LIM2 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | IL4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KAT6B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SLC8A2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EPHA4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SHMT1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TBR1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | VPS11 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CYP17A1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CREB1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SMG9 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ARID2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | WNT2B | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | CDH11 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ABL1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RPS20 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SLC19A1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | YAP1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | LRP4 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GLC3B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FGF16 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DPYD | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RNF20 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TUSC2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | IQSEC1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PBX3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FOXP2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TUBB2A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GRB2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FLI1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GLIS3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ASAP2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | AGER | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DMRT2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ATF6B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PGAP3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MYOG | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SMAD4 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | GABPA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PROC | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ABCA12 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GREB1L | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TELO2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PDPN | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | CRISPLD2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RPGRIP1L | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ACSS2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TFDP1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | NT5C3A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | E2F1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HOXB3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SHTN1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GCH1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ADGRG2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SPRY1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LINC00273 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EML1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PUJO | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GPRC6A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ATE1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ATXN7 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HSPA9 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CAMTA1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ACAN | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FRMD4A | group | C0000768 | GeneticVariation | 0.01 | orphanet , disgenet |
Abnormality, Congenital | BCHE | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | API5 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | SPECC1L | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RPGR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | COL4A6 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | COTL1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CASP9 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | LAMB2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | DHFR | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PKP2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HNRNPA2B1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | OLFML1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PIN1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ANGPT2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | BMP8B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TGFB2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PLA2G15 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MMP14 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ALPL | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | BMP5 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | STAR | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PTLAH | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SGPL1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | EED | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | H3P9 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TAB2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HSPA4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PSG2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CHEK2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PAX9 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CTCFL | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CLEC1B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TGOLN2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MAPK3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CXCL10 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | CCL21 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HPRT1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | SALL2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | KIF5C | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GJB6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | AMER1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CEACAM5 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LINC01672 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MAGEL2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NPDC1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FOXH1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PECAM1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MADD | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | AKR1C4 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | FOXE3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | STAT3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NAAA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | H3P47 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | SMO | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GRIK4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CLDN16 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | FLT4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GREM2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TMCO1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | S100A9 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TNMD | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PDHA2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CDKN2B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SPTAN1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CEACAM7 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NAA10 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LGR6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | IP6K1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CD8A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PLAT | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | FOXI1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HIF1A | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | MTHFD1L | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | BCAR1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CRB2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ADH1B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | IGF1R | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PPARGC1A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EVC2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | EPHX1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PLA1A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GPC4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CDAN1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CLTC | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ABCD1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SUMO1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NABP2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FANCB | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SEMA3A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MIR200C | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | SUCO | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MRGPRX4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MAB21L2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TSHZ1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ERVMER61-1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ABHD5 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GDF5 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SRY | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | FANCF | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CENPF | group | C0000768 | GeneticVariation | 0.01 | orphanet , disgenet |
Abnormality, Congenital | OXER1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TRAF1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FOXG1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CACNA1C | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SCT | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CRADD | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TYR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PAPPA | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | MIR17HG | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ROCK1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | DNAAF3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TCF7L1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | POU5F1P3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RUNX1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SMC3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MEG3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SATB2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GNAI3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TPM3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | APAF1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SEMA3E | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | FNDC3A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TSPYL1 | group | C0000768 | Biomarker | 0.01 | orphanet , disgenet |
Abnormality, Congenital | PITX3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SIN3A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | IL22 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | CORO1A | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | C1QBP | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CBS | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LHX9 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | IVNS1ABP | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | OSGEP | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MBP | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | EGF | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DDX11 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ITSN1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EHMT1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ACCS | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DDX21 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | MIR486-1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | TP53BP1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | NFATC2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | OFC2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ARFGEF2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HOXD11 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CUBN | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RPP14 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CNOT3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LMBR1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CDK2AP2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KDR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ARMC2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NTNG2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | IRX5 | group | C0000768 | Biomarker | 0.01 | orphanet , disgenet |
Abnormality, Congenital | PGM1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DNASE1L3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | BCL2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRTG | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | REG3A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HDAC1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | DEL11P13 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LOXL3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LMX1B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | FGF17 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | SMC1A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TWIST2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CD81 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KIF3A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GPRC5D | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MIR451A | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | LPO | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | OCM | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TG | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CFDP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TP73 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | AKR1D1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HBB | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CD24 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | HMGN1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PIGA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PSAP | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | MRPL28 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | AP1S2 | group | C0000768 | GeneticVariation | 0.01 | orphanet , disgenet |
Abnormality, Congenital | CDH23 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SYT9 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TXN | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PLOD1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ING2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RPL10A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MACOM | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TASP1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | IKBKG | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NEU1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | POU3F4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KCNQ1OT1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TMX2-CTNND1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MRGPRX3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RBM24 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PIGY | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PROK2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MYC | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SRD5A3 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | TRPV2 | group | C0000768 | PosttranslationalModification | 0.01 | disgenet |
Abnormality, Congenital | PRH1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CEACAM3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MMP20 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GRIK3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRDX5 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TMEM215 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ALDH1A3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SYNGAP1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | AUTS2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | EMILIN1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | SLC20A1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | VN1R17P | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GATA5 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | WNT7A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GCLM | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | VAX1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CD59 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | EMILIN2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MIR873 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MITF | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HOXA@ | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | WDR11 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | IHH | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | DGKK | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CTNND1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TEAD1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | PAK1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PLP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EDIL3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PDAP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | H3P10 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LZTS2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PCDH12 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | DVL2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NR0B1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | SPRY2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PAPSS2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MC3R | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SLC26A7 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RAB33A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CHTOP | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SF3B4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SYT14 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RUNX2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | VANGL1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | STAG2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | USP34 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TCTN3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FBN2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CDK5RAP2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SMOC2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HCCS | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TRPV1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ZC4H2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TOP2B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GPR35 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | WWP2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GLC3C | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MOK | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SMARCA4 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PLEC | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DST | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RCAN1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TMEM67 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CCL27 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRMT1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DNAAF4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FAT1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HMGB1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | MKKS | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RRDX | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GPR166P | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ROM1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DDX24 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HOXA11 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NDUFAB1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | BLNK | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CSRP3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TWSG1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TGFBR2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PDSS1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KCNJ10 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | DACT1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FGFR1OP | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TESC | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MLRL | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GJC1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MEP1B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TUBG1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ATF3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | AKR1C1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ATHS | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | REST | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KPNA7 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | YY1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NRIP1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NOL11 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | RPL27A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | XIAP | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | POTEF | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | WWOX | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CXCL14 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GNAQ | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ATRNL1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ISG15 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MAB21L1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MFT2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RER1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EN2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RAX | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SMARCAL1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GATA2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CDK10 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MNAT1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LTBP3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CDA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TGDS | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PNPLA4 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | CRIM1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | NCKIPSD | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MIPOL1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TUBGCP6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DCLRE1C | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PTP4A3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HTT | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TUBA1B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TSPYL2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LMNB1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SHANK3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MEIS1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FNDC3B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MTG2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MIR595 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LMNA | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PRH2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | B3GAT3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PPP3CA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SLC9A3R2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RPL24 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GTF2I | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TRNL1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ENOSF1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ZIC4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RFLNB | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | IL1RAPL1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TCTEX1D2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LPAR3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | C5AR1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CPLANE1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CASP8AP2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SKI | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ALG9 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PON1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ACVR2B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CNOT2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | BLVRB | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CD207 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RFX6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FIG4 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | IL1RN | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | KALRN | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FUZ | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SLC27A4 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | F2R | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TRAF4 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | THOP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | POC1A | group | C0000768 | GeneticVariation | 0.01 | orphanet , disgenet |
Abnormality, Congenital | TBX4 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HMX1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | EIF4A3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MBTPS2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ARHGEF2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MTPAP | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | BNC2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ANKRD11 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HDAC2 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | AFA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CUL4B | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | INPP5D | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | IL15 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ATF6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DDIT3 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | PTPA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | POU5F1P4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NPPC | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MMP13 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | IFT88 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LFNG | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | AIRE | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | IDH1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CILK1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NR2F2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CBSL | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | LHX2 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | PRKRA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TCF12 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | INPP4A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRDX2 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | PTF1A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GPC5 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NOS2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SPINT2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SGO1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EPHA7 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PTGDS | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SYVN1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | HSD11B1L | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RBM10 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CNN3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ENAM | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MPDZ | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ASPM | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SMAD1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CNR1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SON | group | C0000768 | GeneticVariation | 0.01 | orphanet , disgenet |
Abnormality, Congenital | HSPA4L | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MIR876 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | DOLK | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ADAM17 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | IFT80 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MASP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TUBB4A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HOXB@ | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PDLIM3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRODH | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | KIF7 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NFATC1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EGFL7 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RANBP2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SC5D | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SH3PXD2B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HBA1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | WASF3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ALMS1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DISC1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | FANCM | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ZNF711 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | F2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TAC3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PRRX2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LAMTOR2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KANSL1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MAG | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PMM2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RARB | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SERPINB2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GEMIN2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SERPINA6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | STAT1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GPRC5C | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | IGF2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HOXD3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PDX1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RHBDF2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GPR151 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | VDR | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SMAD2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | HCFC1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NFE2L2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | BRIP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SEA | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ATR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MAP2K5 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TMEM87B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ADAMTS1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CXCR4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PAH | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | RYR1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SRGAP3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FUS | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | FGFRL1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PIGP | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | VANGL2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HSPA6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | MCTP2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | KRT14 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FBP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | THRB | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ARHGAP29 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FBXW11 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | MRGPRX1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CFH | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TAP2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HLA-A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ADH1C | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | COL4A3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RAB3GAP1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | DES | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PER2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HOXC@ | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ACTN4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SIAH1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ATP7A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CDH7 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | VASH2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | STXBP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ARNT2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ZMIZ1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | F5 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GRP | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FZD4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SPSB1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | UPK2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ASAP1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ZNF423 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CEP290 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | H19 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | DPYS | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CRH | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NTRK1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NHLRC2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TNR | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | DNTT | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NLRP3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NXT1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SF3B6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EBF3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LIPA | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SLC39A10 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SUPT16H | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ITGB6 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | KIF26B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FUT2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SOX10 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RBM8A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | RTL1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | CDX2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NR5A1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | NRAS | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PHF6 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PRICKLE1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | DYRK1A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | VGLL4 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | SOX12 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ATG9A | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ARL6IP6 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GRHL3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EXT2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TUBA8 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SCN1A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | H3P8 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SEM1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | WNT11 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CCDC114 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TCN2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EGFR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CCL2 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | CYLD | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | GNRHR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | SMAD7 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ACTA2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | LHX4 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CALML3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ARF6 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GCK | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TBC1D24 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ASRGL1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | TMEM165 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CXCL12 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ACP3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | FBXO11 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | AMELX | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | UPK1B | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | AFF3 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PDGFRB | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MRC1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | FOXA2 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RPS7 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GCLC | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | PIGT | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GPR180 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | CRP | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HOXB1 | group | C0000768 | AlteredExpression | 0.01 | disgenet |
Abnormality, Congenital | ADGRL4 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | NPHP3-ACAD11 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | GTF2IRD1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | EFS | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | SLC33A1 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ALPP | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HYLS1 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | MGMT | group | C0000768 | PosttranslationalModification | 0.01 | disgenet |
Abnormality, Congenital | HNRNPR | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | HOXA10 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | RAD51C | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | PDE3A | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | TTN | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | S100A6 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | CYP1A2 | group | C0000768 | Biomarker | 0.01 | disgenet |
Abnormality, Congenital | ATL3 | group | C0000768 | GeneticVariation | 0.01 | disgenet |
Abnormality, Congenital | ASPH | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | PPP2R1A | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | KIAA1109 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | WAC | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | THOC6 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | CPAMD8 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | EXOSC2 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | MYO18B | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | TMEM94 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | QARS1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | SLC6A17 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | TRAPPC9 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | POLE | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | CCNK | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | CCNQ | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | SYT1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | DOCK7 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | OTUD6B | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | ATAD3A | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | AHDC1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | KMT2A | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | FBLN1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | SETBP1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | BRCC3 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | GPKOW | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | MCM9 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | WDR26 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | FOXP1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | STAG1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | TRAF7 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | KDM1A | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | GRHL2 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | ODC1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | RNF135 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | CTDP1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | SETD5 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | GPRASP2 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | TTI2 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | PHIP | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | GNB1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | LHX3 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | ADAMTSL1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | TAF1 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | SLC38A8 | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | GLMN | NA | C0000768 | NA | NA | orphanet |
Abnormality, Congenital | ZNF462 | NA | C0000768 | NA | NA | orphanet |
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