Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperpigmentation SLC29A3 phenotype C0162834 Biomarker 0.4 disgenet
Hyperpigmentation RPL27A phenotype C0162834 Biomarker 0.3 disgenet
Hyperpigmentation AHR phenotype C0162834 Biomarker 0.3 disgenet
Hyperpigmentation RPS27 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation KRT14 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation PANK2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation NOD2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation BRAF phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation TP63 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation GBA phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation AAAS phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation TXNRD2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation SDHB phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation MFN2 phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation IL12A phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation IL12RB1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation SPIB phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation COX7B phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation CYP11B1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation LEMD3 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation CYP11A1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation ZMPSTE24 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation HRAS phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation HJV phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation KCNMA1 phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation BTNL2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation MC2R phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation KIT phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation SRD5A3 phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation POU2AF1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation HLA-DRB1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation SEC23A phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation TNPO3 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation USP7 phenotype C0162834 GeneticVariation 0.1 disgenet
Hyperpigmentation FANCC phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation COL7A1 phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation PSMB8 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation MMEL1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation CSTA phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation TNFSF15 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation HMGA2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation ABCD1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation APC phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation KRT5 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation ALAS2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation DKC1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation RBM28 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation IRF5 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation TFR2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation SDHC phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation HJV phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation DYRK1A phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation KCNMA1-AS1 phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation GJB6 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation BMP2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation SMO phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation KRAS phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation NDUFB11 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation UROS phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation MTOR phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation HCCS phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation ANTXR2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation MRAP phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation LMNA phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation HFE phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation NOP10 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation TGM5 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation NHP2 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation NR0B1 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation GNAQ phenotype C0162834 CausalMutation 0.1 disgenet
Hyperpigmentation APOE phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation JAK3 phenotype C0162834 Biomarker 0.1 disgenet
Hyperpigmentation MYO5A phenotype C0162834 Biomarker 0.01 disgenet
Hyperpigmentation KITLG phenotype C0162834 Biomarker 0.01 disgenet
Hyperpigmentation GRHL2 NA C0162834 NA NA orphanet
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