| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Anus, Imperforate | EBF2 | disease | C0003466 | Biomarker | 0.31 | disgenet |
| Anus, Imperforate | EBF2 | disease | C0003466 | GeneticVariation | 0.31 | disgenet |
| Anus, Imperforate | PCSK5 | disease | C0003466 | Biomarker | 0.3 | disgenet |
| Anus, Imperforate | GLI3 | disease | C0003466 | AlteredExpression | 0.11 | disgenet |
| Anus, Imperforate | GLI3 | disease | C0003466 | Biomarker | 0.11 | disgenet |
| Anus, Imperforate | DACT1 | disease | C0003466 | Biomarker | 0.11 | disgenet |
| Anus, Imperforate | FOXF1 | disease | C0003466 | GeneticVariation | 0.11 | disgenet |
| Anus, Imperforate | CTNNB1 | disease | C0003466 | GeneticVariation | 0.11 | disgenet |
| Anus, Imperforate | FOXF1 | disease | C0003466 | Biomarker | 0.11 | disgenet |
| Anus, Imperforate | CTNNB1 | disease | C0003466 | Biomarker | 0.11 | disgenet |
| Anus, Imperforate | KIF7 | disease | C0003466 | GeneticVariation | 0.11 | disgenet |
| Anus, Imperforate | KIF7 | disease | C0003466 | Biomarker | 0.11 | disgenet |
| Anus, Imperforate | VANGL1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCD2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | B3GLCT | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FUZ | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CD81 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | BRCA1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | NDUFB11 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | ARVCF | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | RAD51C | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | SLX4 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CHRM3 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MAD2L2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | RREB1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CDH1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | KMT2D | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | LARGE1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | DCHS1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | PIGO | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | UBE2T | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | EMC1 | disease | C0003466 | GeneticVariation | 0.1 | disgenet |
| Anus, Imperforate | CEP120 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | RFWD3 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | NAA10 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CCDC22 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CR2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | PRKCD | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | HDAC8 | disease | C0003466 | CausalMutation | 0.1 | disgenet |
| Anus, Imperforate | TWIST2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | TWIST1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | NFKB2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | XRCC2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CEP120 | disease | C0003466 | GeneticVariation | 0.1 | disgenet |
| Anus, Imperforate | POMT1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | BRIP1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CTNND1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCE | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FKRP | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | PIGN | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MED12 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MKS1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | COX7B | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCB | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FRAS1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | KDM6A | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MEOX1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FREM2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | TCTN3 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | DPYS | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MKKS | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | TNFRSF13B | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | ZIC3 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCA | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FMN2 | disease | C0003466 | GeneticVariation | 0.1 | disgenet |
| Anus, Imperforate | SALL4 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | DYNC2H1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | HOXD13 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | HIRA | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCL | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCC | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | SPECC1L | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CDC45 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCG | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | WNT3 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | EMC1-AS1 | disease | C0003466 | GeneticVariation | 0.1 | disgenet |
| Anus, Imperforate | WASHC5 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MID1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | HSPA9 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MS4A1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MED12 | disease | C0003466 | CausalMutation | 0.1 | disgenet |
| Anus, Imperforate | ABL1 | disease | C0003466 | CausalMutation | 0.1 | disgenet |
| Anus, Imperforate | IFT80 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | LONP1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | BCOR | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | EMC1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | JMJD1C | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | NFKB1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | TBX1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | RSPO2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | WDR60 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | PPP2R3C | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | GRIP1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | BRCA2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCI | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CHD7 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | NBN | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | RECQL4 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCM | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CD19 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | GDF6 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | COMT | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | UBR1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | WDR34 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | TNFSF12 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | TBX3 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | PQBP1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | MNX1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | TNFRSF13C | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | SEMA3E | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | PITX2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | SEC24C | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | GDF3 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | ERCC4 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | POMT2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | SALL1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | WDR35 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | PALB2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | HCCS | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | ICOS | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | INTU | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | GP1BB | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FKTN | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FGFR2 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | USP9X | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | RAD51 | disease | C0003466 | GeneticVariation | 0.1 | disgenet |
| Anus, Imperforate | GATA1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | UFD1 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | FANCF | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | CCNQ | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | WNT7A | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | RAD51 | disease | C0003466 | Biomarker | 0.1 | disgenet |
| Anus, Imperforate | KCNK4 | disease | C0003466 | AlteredExpression | 0.01 | disgenet |
| Anus, Imperforate | RYR2 | disease | C0003466 | AlteredExpression | 0.01 | disgenet |
| Anus, Imperforate | CAV1 | disease | C0003466 | AlteredExpression | 0.01 | disgenet |
| Anus, Imperforate | KCNG3 | disease | C0003466 | AlteredExpression | 0.01 | disgenet |
| Anus, Imperforate | TP63 | disease | C0003466 | GeneticVariation | 0.01 | disgenet |
| Anus, Imperforate | IFT27 | disease | C0003466 | GeneticVariation | 0.01 | disgenet |
| Anus, Imperforate | SOX2 | disease | C0003466 | Biomarker | 0.01 | disgenet |
| Anus, Imperforate | EDNRB | disease | C0003466 | Biomarker | 0.01 | disgenet |
| Anus, Imperforate | RYR1 | disease | C0003466 | Biomarker | 0.01 | disgenet |
| Anus, Imperforate | SCN1B | disease | C0003466 | AlteredExpression | 0.01 | disgenet |
| Anus, Imperforate | FXYD1 | disease | C0003466 | AlteredExpression | 0.01 | disgenet |
| Anus, Imperforate | GLI2 | disease | C0003466 | Biomarker | 0.01 | disgenet |
| Anus, Imperforate | KCNG4 | disease | C0003466 | AlteredExpression | 0.01 | disgenet |
| Anus, Imperforate | TEF | disease | C0003466 | GeneticVariation | 0.01 | disgenet |
| Anus, Imperforate | RYR3 | disease | C0003466 | AlteredExpression | 0.01 | disgenet |
| Anus, Imperforate | DKK1 | disease | C0003466 | Biomarker | 0.01 | disgenet |
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