Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypertrichoses SLC29A3 disease C0020555 GeneticVariation 0.46 disgenet
Hypertrichoses SLC29A3 disease C0020555 Biomarker 0.46 disgenet
Hypertrichoses KCNK4 disease C0020555 Biomarker 0.3 disgenet
Hypertrichoses ABCC9 disease C0020555 AlteredExpression 0.13 disgenet
Hypertrichoses ABCC9 disease C0020555 Biomarker 0.13 disgenet
Hypertrichoses ABCC9 disease C0020555 GeneticVariation 0.13 disgenet
Hypertrichoses ABCC9 disease C0020555 CausalMutation 0.13 disgenet
Hypertrichoses SURF1 disease C0020555 Biomarker 0.13 disgenet
Hypertrichoses SURF1 disease C0020555 GeneticVariation 0.13 disgenet
Hypertrichoses KMT2A disease C0020555 CausalMutation 0.12 disgenet
Hypertrichoses KMT2A disease C0020555 GeneticVariation 0.12 disgenet
Hypertrichoses ARID1B disease C0020555 GeneticVariation 0.11 disgenet
Hypertrichoses ARID1B disease C0020555 Biomarker 0.11 disgenet
Hypertrichoses ARID1B disease C0020555 CausalMutation 0.11 disgenet
Hypertrichoses SLC25A24 disease C0020555 Biomarker 0.11 disgenet
Hypertrichoses SLC25A24 disease C0020555 GeneticVariation 0.11 disgenet
Hypertrichoses ARID1A disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses TACO1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses TMEM94 disease C0020555 CausalMutation 0.1 disgenet
Hypertrichoses NDUFS3 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFS4 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses BLM disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SCO2 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses RNF125 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SRD5A3 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SMARCB1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SRD5A3 disease C0020555 CausalMutation 0.1 disgenet
Hypertrichoses GLB1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses VPS37A disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses COX10 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses PDHA1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFV2 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses GNA14 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SETBP1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses HNRNPK disease C0020555 GeneticVariation 0.1 disgenet
Hypertrichoses NDUFV1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses MTFMT disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SLC19A3 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFA10 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFB8 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NAGLU disease C0020555 CausalMutation 0.1 disgenet
Hypertrichoses NDUFS2 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses PUF60 disease C0020555 GeneticVariation 0.1 disgenet
Hypertrichoses TLK2 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFAF3 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses GJB4 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFAF2 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses GATA1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses LIPT1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses INSR disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NUS1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SMO disease C0020555 CausalMutation 0.1 disgenet
Hypertrichoses NDUFAF5 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses ECHS1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SDHA disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses UROS disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses RAB18 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFS7 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFAF6 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses CTSC disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFS8 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SMARCB1 disease C0020555 CausalMutation 0.1 disgenet
Hypertrichoses HUWE1 disease C0020555 GeneticVariation 0.1 disgenet
Hypertrichoses TRAIP disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFA2 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses TP53 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses TWIST2 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses BCS1L disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFA9 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses IDS disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses KCNJ11 disease C0020555 GeneticVariation 0.1 disgenet
Hypertrichoses IRF2BPL disease C0020555 GeneticVariation 0.1 disgenet
Hypertrichoses COX15 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses FOXRED1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses LTBP3 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses MAN2B1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFA12 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses USP9X disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFA13 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses CPOX disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SMARCA4 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses SOX11 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses NDUFA4 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses PET100 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses ABCA5 disease C0020555 Biomarker 0.1 orphanet , disgenet
Hypertrichoses NDUFS1 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses ASXL1 disease C0020555 CausalMutation 0.1 disgenet
Hypertrichoses COG7 disease C0020555 Biomarker 0.1 disgenet
Hypertrichoses TRPS1 disease C0020555 Biomarker 0.02 disgenet
Hypertrichoses TRPS1 disease C0020555 AlteredExpression 0.02 disgenet
Hypertrichoses EGFR disease C0020555 Biomarker 0.01 disgenet
Hypertrichoses MED23 disease C0020555 Biomarker 0.01 disgenet
Hypertrichoses CASP14 disease C0020555 Biomarker 0.01 disgenet
Hypertrichoses TCF12 disease C0020555 Biomarker 0.01 disgenet
Hypertrichoses VEGFA disease C0020555 AlteredExpression 0.01 disgenet
Hypertrichoses ABCC8 disease C0020555 GeneticVariation 0.01 disgenet
Hypertrichoses ARID2 disease C0020555 Biomarker 0.01 disgenet
Hypertrichoses PTGDS disease C0020555 Biomarker 0.01 disgenet
Hypertrichoses ACACA disease C0020555 GeneticVariation 0.01 disgenet
Hypertrichoses HPGDS disease C0020555 Biomarker 0.01 disgenet
Hypertrichoses BMS1 disease C0020555 GeneticVariation 0.01 disgenet
Hypertrichoses SOX9 disease C0020555 GeneticVariation 0.01 disgenet
Hypertrichoses SFXN1 disease C0020555 GeneticVariation 0.01 disgenet
Hypertrichoses CYP21A2 disease C0020555 GeneticVariation 0.01 disgenet
Hypertrichoses SHH NA C0020555 NA NA orphanet
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