Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy

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Subtype of: Gonadal dysgenesis
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
MONDO_0032738
PPP2R3C Causal
30893644 34750818 34714774
Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
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Xy gonadal dysgenesis syndrome 1 shared genePPP2R3C Related via 1 shared gene including PPP2R3C. Male infertility globozoospermia 1 shared genePPP2R3C Related via 1 shared gene including PPP2R3C. Spermatogenic failure 1 shared genePPP2R3C Related via 1 shared gene including PPP2R3C. Sclerosing cholangitis 1 shared genePPP2R3C Related via 1 shared gene including PPP2R3C. Ankylosing spondylitis 1 shared genePPP2R3C Related via 1 shared gene including PPP2R3C.