Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dilution, Pigmentary TYR disease C1876214 AlteredExpression 0.09 disgenet
Dilution, Pigmentary TYR disease C1876214 Biomarker 0.09 disgenet
Dilution, Pigmentary TYR disease C1876214 GeneticVariation 0.09 disgenet
Dilution, Pigmentary SOX10 disease C1876214 Biomarker 0.07 disgenet
Dilution, Pigmentary SOX10 disease C1876214 GeneticVariation 0.07 disgenet
Dilution, Pigmentary RAB27A disease C1876214 Biomarker 0.04 disgenet
Dilution, Pigmentary RAB27A disease C1876214 GeneticVariation 0.04 disgenet
Dilution, Pigmentary OCA2 disease C1876214 Biomarker 0.03 disgenet
Dilution, Pigmentary OCA2 disease C1876214 GeneticVariation 0.03 disgenet
Dilution, Pigmentary MITF disease C1876214 GeneticVariation 0.03 disgenet
Dilution, Pigmentary SLC45A2 disease C1876214 GeneticVariation 0.02 disgenet
Dilution, Pigmentary MLPH disease C1876214 Biomarker 0.02 disgenet
Dilution, Pigmentary MYO5A disease C1876214 GeneticVariation 0.02 disgenet
Dilution, Pigmentary GPR143 disease C1876214 Biomarker 0.02 disgenet
Dilution, Pigmentary POMC disease C1876214 Biomarker 0.02 disgenet
Dilution, Pigmentary AP3B1 disease C1876214 Biomarker 0.02 disgenet
Dilution, Pigmentary SLC45A2 disease C1876214 Biomarker 0.02 disgenet
Dilution, Pigmentary AP3B1 disease C1876214 AlteredExpression 0.02 disgenet
Dilution, Pigmentary HPS1 disease C1876214 Biomarker 0.02 disgenet
Dilution, Pigmentary HPS1 disease C1876214 AlteredExpression 0.02 disgenet
Dilution, Pigmentary POMC disease C1876214 GeneticVariation 0.02 disgenet
Dilution, Pigmentary GPR143 disease C1876214 GeneticVariation 0.02 disgenet
Dilution, Pigmentary SASH1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary PIKFYVE disease C1876214 GeneticVariation 0.01 disgenet
Dilution, Pigmentary TNFSF14 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary LTBR disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary ZEB2 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary RAB38 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary HDAC5 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary RANBP2 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary GLI3 disease C1876214 GeneticVariation 0.01 disgenet
Dilution, Pigmentary TYRP1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary DCT disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary TP53 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary TNF disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary MTOR disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary UBE3A disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary BACE1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary PLXNA2 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary EPG5 disease C1876214 GeneticVariation 0.01 disgenet
Dilution, Pigmentary HPS5 disease C1876214 GeneticVariation 0.01 disgenet
Dilution, Pigmentary SLC24A5 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary CSF2 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary LAMC2 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary RTL1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary HPS3 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary FGL1 disease C1876214 AlteredExpression 0.01 disgenet
Dilution, Pigmentary TCOF1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary MLANA disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary FSCN1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary POFUT1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary CLCN7 disease C1876214 GeneticVariation 0.01 disgenet
Dilution, Pigmentary CABIN1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary FIG4 disease C1876214 GeneticVariation 0.01 disgenet
Dilution, Pigmentary TRP-AGG2-6 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary NFKB1 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary RHOA disease C1876214 GeneticVariation 0.01 orphanet , disgenet
Dilution, Pigmentary GABRB3 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary UROD disease C1876214 GeneticVariation 0.01 disgenet
Dilution, Pigmentary MC1R disease C1876214 AlteredExpression 0.01 disgenet
Dilution, Pigmentary DKK1 disease C1876214 AlteredExpression 0.01 disgenet
Dilution, Pigmentary RPE disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary CXCL11 disease C1876214 Biomarker 0.01 disgenet
Dilution, Pigmentary VAC14 disease C1876214 GeneticVariation 0.01 disgenet
Dilution, Pigmentary ENPP1 NA C1876214 NA NA orphanet
Dilution, Pigmentary KITLG NA C1876214 NA NA orphanet
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