Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Gonadal Dysgenesis, 46,XX FSHR disease C0949595 GermlineCausalMutation 0.75 orphanet , disgenet
Gonadal Dysgenesis, 46,XX FSHR disease C0949595 GeneticVariation 0.75 orphanet , disgenet
Gonadal Dysgenesis, 46,XX FSHR disease C0949595 CausalMutation 0.75 orphanet , disgenet
Gonadal Dysgenesis, 46,XX FSHR disease C0949595 Biomarker 0.75 orphanet , disgenet
Gonadal Dysgenesis, 46,XX NR5A1 disease C0949595 GeneticVariation 0.51 orphanet , disgenet
Gonadal Dysgenesis, 46,XX NR5A1 disease C0949595 Biomarker 0.51 orphanet , disgenet
Gonadal Dysgenesis, 46,XX NR5A1 disease C0949595 GermlineCausalMutation 0.51 orphanet , disgenet
Gonadal Dysgenesis, 46,XX BMP15 disease C0949595 Biomarker 0.32 orphanet , disgenet
Gonadal Dysgenesis, 46,XX BMP15 disease C0949595 GeneticVariation 0.32 orphanet , disgenet
Gonadal Dysgenesis, 46,XX BMP15 disease C0949595 GermlineCausalMutation 0.32 orphanet , disgenet
Gonadal Dysgenesis, 46,XX PSMC3IP disease C0949595 GeneticVariation 0.31 orphanet , disgenet
Gonadal Dysgenesis, 46,XX NUP107 disease C0949595 GermlineCausalMutation 0.31 orphanet , disgenet
Gonadal Dysgenesis, 46,XX NUP107 disease C0949595 GeneticVariation 0.31 orphanet , disgenet
Gonadal Dysgenesis, 46,XX PSMC3IP disease C0949595 GermlineCausalMutation 0.31 orphanet , disgenet
Gonadal Dysgenesis, 46,XX SPIDR disease C0949595 GermlineCausalMutation 0.3 orphanet , disgenet
Gonadal Dysgenesis, 46,XX MRPS22 disease C0949595 GermlineCausalMutation 0.3 orphanet , disgenet
Gonadal Dysgenesis, 46,XX POLR3H disease C0949595 GermlineCausalMutation 0.3 orphanet , disgenet
Gonadal Dysgenesis, 46,XX FANCL disease C0949595 Biomarker 0.2 disgenet
Gonadal Dysgenesis, 46,XX SF1 disease C0949595 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XX ZSWIM7 NA C0949595 NA NA orphanet
Gonadal Dysgenesis, 46,XX BNC1 NA C0949595 NA NA orphanet
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