Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Gonadal dysgenesis XX type deafness LARS2 disease C0685838 CausalMutation 0.76 orphanet , disgenet
Gonadal dysgenesis XX type deafness LARS2 disease C0685838 GeneticVariation 0.76 orphanet , disgenet
Gonadal dysgenesis XX type deafness LARS2 disease C0685838 Biomarker 0.76 orphanet , disgenet
Gonadal dysgenesis XX type deafness LARS2 disease C0685838 GermlineCausalMutation 0.76 orphanet , disgenet
Gonadal dysgenesis XX type deafness CLPP disease C0685838 Biomarker 0.74 orphanet , disgenet
Gonadal dysgenesis XX type deafness CLPP disease C0685838 GermlineCausalMutation 0.74 orphanet , disgenet
Gonadal dysgenesis XX type deafness CLPP disease C0685838 GeneticVariation 0.74 orphanet , disgenet
Gonadal dysgenesis XX type deafness HSD17B4 disease C0685838 GeneticVariation 0.63 orphanet , disgenet
Gonadal dysgenesis XX type deafness HSD17B4 disease C0685838 GermlineCausalMutation 0.63 orphanet , disgenet
Gonadal dysgenesis XX type deafness HSD17B4 disease C0685838 Biomarker 0.63 orphanet , disgenet
Gonadal dysgenesis XX type deafness HARS2 disease C0685838 GermlineCausalMutation 0.35 orphanet , disgenet
Gonadal dysgenesis XX type deafness HARS2 disease C0685838 AlteredExpression 0.35 orphanet , disgenet
Gonadal dysgenesis XX type deafness HARS2 disease C0685838 GeneticVariation 0.35 orphanet , disgenet
Gonadal dysgenesis XX type deafness TWNK disease C0685838 Biomarker 0.35 orphanet , disgenet
Gonadal dysgenesis XX type deafness TWNK disease C0685838 GeneticVariation 0.35 orphanet , disgenet
Gonadal dysgenesis XX type deafness TWNK disease C0685838 GermlineCausalMutation 0.35 orphanet , disgenet
Gonadal dysgenesis XX type deafness ERAL1 disease C0685838 AlteredExpression 0.31 orphanet , disgenet
Gonadal dysgenesis XX type deafness SGO2 disease C0685838 Biomarker 0.31 disgenet
Gonadal dysgenesis XX type deafness SGO2 disease C0685838 GeneticVariation 0.31 disgenet
Gonadal dysgenesis XX type deafness ERAL1 disease C0685838 GermlineCausalMutation 0.31 orphanet , disgenet
Gonadal dysgenesis XX type deafness CHMP1B disease C0685838 Biomarker 0.03 disgenet
Gonadal dysgenesis XX type deafness CHMP1B disease C0685838 GeneticVariation 0.03 disgenet
Gonadal dysgenesis XX type deafness SPINT2 disease C0685838 GeneticVariation 0.01 disgenet
Gonadal dysgenesis XX type deafness CLDN14 disease C0685838 GeneticVariation 0.01 disgenet
Gonadal dysgenesis XX type deafness FOXL2 disease C0685838 Biomarker 0.01 disgenet
Gonadal dysgenesis XX type deafness HARS1 disease C0685838 GeneticVariation 0.01 disgenet
Gonadal dysgenesis XX type deafness PSMC3IP disease C0685838 Biomarker 0.01 disgenet
Gonadal dysgenesis XX type deafness TBC1D24 disease C0685838 GeneticVariation 0.01 disgenet
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