Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypopigmentation EPG5 disease C0162835 GeneticVariation 0.41 disgenet
Hypopigmentation EPG5 disease C0162835 Biomarker 0.41 disgenet
Hypopigmentation GLI3 disease C0162835 Biomarker 0.31 disgenet
Hypopigmentation RHOA disease C0162835 GeneticVariation 0.31 orphanet , disgenet
Hypopigmentation GLI3 disease C0162835 GeneticVariation 0.31 disgenet
Hypopigmentation RHOA disease C0162835 Biomarker 0.31 orphanet , disgenet
Hypopigmentation TYR disease C0162835 AlteredExpression 0.2 disgenet
Hypopigmentation TYR disease C0162835 CausalMutation 0.2 disgenet
Hypopigmentation TYR disease C0162835 Biomarker 0.2 disgenet
Hypopigmentation TYR disease C0162835 GeneticVariation 0.2 disgenet
Hypopigmentation MITF disease C0162835 Biomarker 0.16 disgenet
Hypopigmentation MITF disease C0162835 GeneticVariation 0.16 disgenet
Hypopigmentation POMC disease C0162835 Biomarker 0.13 disgenet
Hypopigmentation RAB27A disease C0162835 Biomarker 0.13 disgenet
Hypopigmentation RAB27A disease C0162835 AlteredExpression 0.13 disgenet
Hypopigmentation POMC disease C0162835 GeneticVariation 0.13 disgenet
Hypopigmentation RAB27A disease C0162835 GeneticVariation 0.13 disgenet
Hypopigmentation HRAS disease C0162835 Biomarker 0.11 disgenet
Hypopigmentation CLCN7 disease C0162835 Biomarker 0.11 disgenet
Hypopigmentation MTOR disease C0162835 CausalMutation 0.11 disgenet
Hypopigmentation UBE3A disease C0162835 Biomarker 0.11 disgenet
Hypopigmentation MTOR disease C0162835 Biomarker 0.11 disgenet
Hypopigmentation MYO5A disease C0162835 Biomarker 0.11 disgenet
Hypopigmentation MYO5A disease C0162835 GeneticVariation 0.11 disgenet
Hypopigmentation CLCN7 disease C0162835 GeneticVariation 0.11 disgenet
Hypopigmentation KRAS disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation WDR73 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation UROS disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation LYST disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation ATP7A disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation POLH disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation SMO disease C0162835 CausalMutation 0.1 disgenet
Hypopigmentation SLC17A5 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation BLOC1S6 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation LAMTOR2 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation APOE disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation NRAS disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation PAH disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation HLA-DRB1 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation KRT14 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation CTNS disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation KRT5 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation DCPS disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation PCSK1 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation BTNL2 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation XPC disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation SLC35A2 disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation CBS disease C0162835 Biomarker 0.1 disgenet
Hypopigmentation SOX10 disease C0162835 Biomarker 0.08 disgenet
Hypopigmentation SOX10 disease C0162835 GeneticVariation 0.08 disgenet
Hypopigmentation OCA2 disease C0162835 GeneticVariation 0.04 disgenet
Hypopigmentation OCA2 disease C0162835 Biomarker 0.04 disgenet
Hypopigmentation KIT disease C0162835 GeneticVariation 0.04 disgenet
Hypopigmentation AP3B1 disease C0162835 AlteredExpression 0.04 disgenet
Hypopigmentation AP3B1 disease C0162835 Biomarker 0.04 disgenet
Hypopigmentation KIT disease C0162835 AlteredExpression 0.04 disgenet
Hypopigmentation HSPA1A disease C0162835 GeneticVariation 0.03 disgenet
Hypopigmentation HSPA1A disease C0162835 Biomarker 0.03 disgenet
Hypopigmentation PMEL disease C0162835 Biomarker 0.03 disgenet
Hypopigmentation PMEL disease C0162835 GeneticVariation 0.03 disgenet
Hypopigmentation HSPA1B disease C0162835 Biomarker 0.03 disgenet
Hypopigmentation TYRP1 disease C0162835 Biomarker 0.03 disgenet
Hypopigmentation HPS1 disease C0162835 Biomarker 0.03 disgenet
Hypopigmentation HSPA1B disease C0162835 AlteredExpression 0.03 disgenet
Hypopigmentation TYRP1 disease C0162835 AlteredExpression 0.03 disgenet
Hypopigmentation HSPA1A disease C0162835 AlteredExpression 0.03 disgenet
Hypopigmentation RANBP2 disease C0162835 AlteredExpression 0.03 disgenet
Hypopigmentation HPS1 disease C0162835 AlteredExpression 0.03 disgenet
Hypopigmentation RANBP2 disease C0162835 Biomarker 0.03 disgenet
Hypopigmentation DCT disease C0162835 Biomarker 0.03 disgenet
Hypopigmentation VAMAS6 disease C0162835 Biomarker 0.03 disgenet
Hypopigmentation HSPA1B disease C0162835 GeneticVariation 0.03 disgenet
Hypopigmentation GPR143 disease C0162835 GeneticVariation 0.02 disgenet
Hypopigmentation HTR1A disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation GPR143 disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation TRP-AGG2-6 disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation SLC45A2 disease C0162835 GeneticVariation 0.02 disgenet
Hypopigmentation CD274 disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation RPE disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation HPS3 disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation FGL1 disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation RTL1 disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation MLPH disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation SLC45A2 disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation MLANA disease C0162835 Biomarker 0.02 disgenet
Hypopigmentation MLPH disease C0162835 GeneticVariation 0.02 disgenet
Hypopigmentation FGL1 disease C0162835 AlteredExpression 0.02 disgenet
Hypopigmentation HDAC5 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation UVRAG disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation DKK1 disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation TP53 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation POFUT1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation PLXNA2 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation TP63 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation IFNG disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation HLA-DQA1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation CSF2 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation S100B disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation CAT disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation TNF disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation TRPC1 disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation SNAI2 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation ISG20 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation SASH1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation GABRB3 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation CABIN1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation IL22 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation IL17A disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation FCER1G disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation MATN1 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation TNFSF14 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation ABCA4 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation PRF1 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation CXCL11 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation FTL disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation UROD disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation FOXO3 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation CKAP4 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation HSPA4 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation LTBR disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation RAB27B disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation LAMC2 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation KITLG disease C0162835 Biomarker 0.01 orphanet , disgenet
Hypopigmentation LINC00328 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation RNASE2 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation NIF3L1 disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation CITED1 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation TSC2 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation ARAF disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation FIG4 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation HPS5 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation PIKFYVE disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation NFKB1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation GCH1 disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation SLC24A5 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation TRP-AGG2-5 disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation UNC13D disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation MC1R disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation BACE1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation FSCN1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation TCOF1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation BACE2 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation IL2RA disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation ZEB2 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation HT disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation TAC1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation VAC14 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation APOD disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation PRSS1 disease C0162835 AlteredExpression 0.01 disgenet
Hypopigmentation IGF1 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation SEPTIN4 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation ALB disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation RPE65 disease C0162835 GeneticVariation 0.01 disgenet
Hypopigmentation RAB38 disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation OXA1L disease C0162835 Biomarker 0.01 disgenet
Hypopigmentation ENPP1 NA C0162835 NA NA orphanet
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