| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Skin Abnormalities | ERCC2 | group | C0037268 | Biomarker | 0.31 | disgenet |
| Skin Abnormalities | ERCC2 | group | C0037268 | GeneticVariation | 0.31 | disgenet |
| Skin Abnormalities | FGFR2 | group | C0037268 | Biomarker | 0.31 | disgenet |
| Skin Abnormalities | FGFR2 | group | C0037268 | GeneticVariation | 0.31 | disgenet |
| Skin Abnormalities | ZNF469 | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | IRF6 | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | AP1B1 | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | SUPV3L1 | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | SOD2 | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | TP63 | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | GORAB | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | CHUK | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | LSS | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | APAF1 | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | FDFT1 | group | C0037268 | Biomarker | 0.3 | disgenet |
| Skin Abnormalities | WDR73 | group | C0037268 | Biomarker | 0.11 | disgenet |
| Skin Abnormalities | WDR73 | group | C0037268 | GeneticVariation | 0.11 | disgenet |
| Skin Abnormalities | ZNF592 | group | C0037268 | Biomarker | 0.11 | disgenet |
| Skin Abnormalities | PLG | group | C0037268 | Biomarker | 0.11 | disgenet |
| Skin Abnormalities | ZNF592 | group | C0037268 | GeneticVariation | 0.11 | disgenet |
| Skin Abnormalities | CTSK | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | TUBB | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | FBN1 | group | C0037268 | CausalMutation | 0.1 | disgenet |
| Skin Abnormalities | GALNT3 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | SUCLG1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | GLMN | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | ATIC | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | SMARCB1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | MECP2 | group | C0037268 | CausalMutation | 0.1 | disgenet |
| Skin Abnormalities | SMO | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | SAMD9 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | CTSC | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | PDGFRB | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | KCTD1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | NANS | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | FLG | group | C0037268 | CausalMutation | 0.1 | disgenet |
| Skin Abnormalities | PIK3R1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | COL11A2 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | TGFBR1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | CHRM3 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | ELOVL4 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | SPTLC1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | COL7A1 | group | C0037268 | CausalMutation | 0.1 | disgenet |
| Skin Abnormalities | VDR | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | TBC1D24 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | WAS | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | COL17A1 | group | C0037268 | CausalMutation | 0.1 | disgenet |
| Skin Abnormalities | NLRP3 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | COL7A1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | KRIT1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | TAB2 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | FLG-AS1 | group | C0037268 | CausalMutation | 0.1 | disgenet |
| Skin Abnormalities | SLC30A2 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | FKBP10 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | NF2 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | HYAL1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | NOTCH3 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | MYH3 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | BCO1 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | TAT | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | SLC19A2 | group | C0037268 | Biomarker | 0.1 | disgenet |
| Skin Abnormalities | APOC1 | group | C0037268 | GeneticVariation | 0.02 | disgenet |
| Skin Abnormalities | GJB2 | group | C0037268 | GeneticVariation | 0.02 | disgenet |
| Skin Abnormalities | APOC1 | group | C0037268 | AlteredExpression | 0.02 | disgenet |
| Skin Abnormalities | IL36A | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | MMP2 | group | C0037268 | AlteredExpression | 0.01 | disgenet |
| Skin Abnormalities | ATP7A | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | AHSA1 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | SERPINE1 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | IL1RL2 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | AICDA | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | ERBB2 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | RNF19A | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | TRPV3 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | CRK | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | COL6A3 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | GRAP2 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | AKAP12 | group | C0037268 | PosttranslationalModification | 0.01 | disgenet |
| Skin Abnormalities | MAPK14 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | CRYM | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | RECQL4 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | LORICRIN | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | POLDIP2 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | JUP | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | ST14 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | ACTR2 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | IL20 | group | C0037268 | AlteredExpression | 0.01 | disgenet |
| Skin Abnormalities | AIMP2 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | SMAD4 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | RAB3GAP1 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | GBA | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | IL12RB2 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | COL6A5 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | MPZL3 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | SMAD2 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | SLURP1 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | HRAS | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | IL1RAP | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | SLC27A4 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | MTHFR | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | MAPK1 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | ANGPTL2 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | CCL8 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | MAGT1 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | FADS2 | group | C0037268 | AlteredExpression | 0.01 | disgenet |
| Skin Abnormalities | B4GALT7 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | IL17B | group | C0037268 | AlteredExpression | 0.01 | disgenet |
| Skin Abnormalities | ANTXR1 | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | LMNA | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | GJB3 | group | C0037268 | AlteredExpression | 0.01 | disgenet |
| Skin Abnormalities | B4GALT6 | group | C0037268 | GeneticVariation | 0.01 | disgenet |
| Skin Abnormalities | HDC | group | C0037268 | Biomarker | 0.01 | disgenet |
| Skin Abnormalities | TRIP4 | NA | C0037268 | NA | NA | orphanet |
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