Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pigmentation, Skin IRF4 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin ATP8B4 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin CEP152 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin SHC4 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin MC1R phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin SPATA33 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin LINC01491 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin PROZ phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin SLFN12L phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin SLC24A5 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin RALY phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin GNG2 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin DEF8 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin FANCA phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin MYEF2 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin SLC12A1 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin HERC2 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin OCA2 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin CTXN2 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin TYR phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin SLC45A2 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin DUT phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin PRTFDC1 phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin SEMA6D phenotype C0037290 GeneticVariation 0.1 disgenet
Pigmentation, Skin SASH1 NA C0037290 NA NA orphanet
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