Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hermanski Pudlak Syndrome HPS4 disease C0079504 GeneticVariation 0.67 orphanet , disgenet
Hermanski Pudlak Syndrome HPS4 disease C0079504 CausalMutation 0.67 orphanet , disgenet
Hermanski Pudlak Syndrome HPS4 disease C0079504 Biomarker 0.67 orphanet , disgenet
Hermanski Pudlak Syndrome HPS3 disease C0079504 GeneticVariation 0.65 disgenet
Hermanski Pudlak Syndrome HPS3 disease C0079504 Biomarker 0.65 disgenet
Hermanski Pudlak Syndrome HPS3 disease C0079504 CausalMutation 0.65 disgenet
Hermanski Pudlak Syndrome BLOC1S3 disease C0079504 CausalMutation 0.62 disgenet
Hermanski Pudlak Syndrome BLOC1S3 disease C0079504 Biomarker 0.62 disgenet
Hermanski Pudlak Syndrome BLOC1S3 disease C0079504 GeneticVariation 0.62 disgenet
Hermanski Pudlak Syndrome BLOC1S6 disease C0079504 GeneticVariation 0.61 disgenet
Hermanski Pudlak Syndrome HPS6 disease C0079504 Biomarker 0.61 disgenet
Hermanski Pudlak Syndrome HPS6 disease C0079504 GeneticVariation 0.61 disgenet
Hermanski Pudlak Syndrome DTNBP1 disease C0079504 GeneticVariation 0.61 disgenet
Hermanski Pudlak Syndrome BLOC1S6 disease C0079504 Biomarker 0.61 disgenet
Hermanski Pudlak Syndrome HPS5 disease C0079504 Biomarker 0.61 disgenet
Hermanski Pudlak Syndrome HPS6 disease C0079504 CausalMutation 0.61 disgenet
Hermanski Pudlak Syndrome DTNBP1 disease C0079504 Biomarker 0.61 disgenet
Hermanski Pudlak Syndrome HPS5 disease C0079504 GeneticVariation 0.61 disgenet
Hermanski Pudlak Syndrome DTNBP1 disease C0079504 CausalMutation 0.61 disgenet
Hermanski Pudlak Syndrome HPS5 disease C0079504 CausalMutation 0.61 disgenet
Hermanski Pudlak Syndrome AP3D1 disease C0079504 Biomarker 0.53 disgenet
Hermanski Pudlak Syndrome AP3D1 disease C0079504 GeneticVariation 0.53 disgenet
Hermanski Pudlak Syndrome AP3B1 disease C0079504 GeneticVariation 0.5 orphanet , disgenet
Hermanski Pudlak Syndrome AP3B1 disease C0079504 CausalMutation 0.5 orphanet , disgenet
Hermanski Pudlak Syndrome AP3B1 disease C0079504 Biomarker 0.5 orphanet , disgenet
Hermanski Pudlak Syndrome HPS1 disease C0079504 CausalMutation 0.5 orphanet , disgenet
Hermanski Pudlak Syndrome HPS1 disease C0079504 Biomarker 0.5 orphanet , disgenet
Hermanski Pudlak Syndrome HPS1 disease C0079504 GeneticVariation 0.5 orphanet , disgenet
Hermanski Pudlak Syndrome RAB38 disease C0079504 Biomarker 0.26 disgenet
Hermanski Pudlak Syndrome RAB38 disease C0079504 GeneticVariation 0.26 disgenet
Hermanski Pudlak Syndrome RAB38 disease C0079504 AlteredExpression 0.26 disgenet
Hermanski Pudlak Syndrome BLOC1S5 disease C0079504 Biomarker 0.21 disgenet
Hermanski Pudlak Syndrome BLOC1S4 disease C0079504 GeneticVariation 0.21 disgenet
Hermanski Pudlak Syndrome BLOC1S5 disease C0079504 GeneticVariation 0.21 disgenet
Hermanski Pudlak Syndrome BLOC1S4 disease C0079504 Biomarker 0.21 disgenet
Hermanski Pudlak Syndrome VPS33A disease C0079504 Biomarker 0.21 disgenet
Hermanski Pudlak Syndrome VPS33A disease C0079504 GeneticVariation 0.21 disgenet
Hermanski Pudlak Syndrome RABGGTA disease C0079504 Biomarker 0.2 disgenet
Hermanski Pudlak Syndrome KXD1 disease C0079504 Biomarker 0.2 disgenet
Hermanski Pudlak Syndrome SLC7A11 disease C0079504 Biomarker 0.2 disgenet
Hermanski Pudlak Syndrome CP disease C0079504 CausalMutation 0.1 disgenet
Hermanski Pudlak Syndrome MARK4 disease C0079504 CausalMutation 0.1 disgenet
Hermanski Pudlak Syndrome TFF1 disease C0079504 Biomarker 0.1 disgenet
Hermanski Pudlak Syndrome TFF1 disease C0079504 GeneticVariation 0.1 disgenet
Hermanski Pudlak Syndrome FGL1 disease C0079504 GeneticVariation 0.08 disgenet
Hermanski Pudlak Syndrome FGL1 disease C0079504 Biomarker 0.08 disgenet
Hermanski Pudlak Syndrome RAB32 disease C0079504 Biomarker 0.03 disgenet
Hermanski Pudlak Syndrome TYRP1 disease C0079504 Biomarker 0.03 disgenet
Hermanski Pudlak Syndrome TYR disease C0079504 Biomarker 0.03 disgenet
Hermanski Pudlak Syndrome RAB32 disease C0079504 GeneticVariation 0.03 disgenet
Hermanski Pudlak Syndrome CD63 disease C0079504 Biomarker 0.03 disgenet
Hermanski Pudlak Syndrome TYRP1 disease C0079504 GeneticVariation 0.03 disgenet
Hermanski Pudlak Syndrome TYR disease C0079504 GeneticVariation 0.03 disgenet
Hermanski Pudlak Syndrome LGALS3 disease C0079504 Biomarker 0.02 disgenet
Hermanski Pudlak Syndrome CHI3L1 disease C0079504 Biomarker 0.02 disgenet
Hermanski Pudlak Syndrome SOS1 disease C0079504 Biomarker 0.02 disgenet
Hermanski Pudlak Syndrome RASGRF1 disease C0079504 Biomarker 0.02 disgenet
Hermanski Pudlak Syndrome OCA2 disease C0079504 GeneticVariation 0.02 disgenet
Hermanski Pudlak Syndrome SOS1 disease C0079504 GeneticVariation 0.02 disgenet
Hermanski Pudlak Syndrome OCA2 disease C0079504 Biomarker 0.02 disgenet
Hermanski Pudlak Syndrome PI4K2A disease C0079504 Biomarker 0.02 disgenet
Hermanski Pudlak Syndrome RASGRF1 disease C0079504 GeneticVariation 0.02 disgenet
Hermanski Pudlak Syndrome LYST disease C0079504 GeneticVariation 0.01 disgenet
Hermanski Pudlak Syndrome ARHGEF2 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome SLC2A4RG disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome ABCC4 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome P4HB disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome TCAP disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome GDI1 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome F2R disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome TNF disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome PRDX5 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome ELANE disease C0079504 GeneticVariation 0.01 disgenet
Hermanski Pudlak Syndrome P2RY1 disease C0079504 GeneticVariation 0.01 disgenet
Hermanski Pudlak Syndrome VPS39 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome CHM disease C0079504 GeneticVariation 0.01 disgenet
Hermanski Pudlak Syndrome PAWR disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome VWF disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome SLC35D3 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome SFTPC disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome HSPB3 disease C0079504 GeneticVariation 0.01 disgenet
Hermanski Pudlak Syndrome PMEL disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome FBXW7 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome ACTB disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome MAP1LC3B disease C0079504 AlteredExpression 0.01 disgenet
Hermanski Pudlak Syndrome CD1B disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome RIMS2 disease C0079504 GeneticVariation 0.01 disgenet
Hermanski Pudlak Syndrome SLC25A20 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome PWAR4 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome SFTPA1 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome F2RL3 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome VAMP8 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome BHLHE22 disease C0079504 GeneticVariation 0.01 disgenet
Hermanski Pudlak Syndrome RAB9A disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome FUZ disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome PDIA2 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome PADI1 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome PAX6 disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome NXF1 disease C0079504 GeneticVariation 0.01 disgenet
Hermanski Pudlak Syndrome RMRP disease C0079504 Biomarker 0.01 disgenet
Hermanski Pudlak Syndrome HLA-C disease C0079504 Biomarker 0.01 disgenet
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