PSMC3IP, PSMC3 interacting protein, 29893

N. diseases: 53; N. variants: 0
Disease: Gonadal dysgenesis XX type deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		0.010 Biomarker disease BEFREE Mutations in HARS2, HSD17B4, and PSMC3IP genes do not explain Perrault syndrome in our patient, indicating that other critical genes remain to be identified. 23332201 2013