Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23395
Gene Symbol: LARS2
LARS2 		leucyl-tRNA synthetase 2, mitochondrial 0.695 0.654 8.9E-17
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		disease 0.760 strong 1.000 9 0 2013 2019
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4 		hydroxysteroid 17-beta dehydrogenase 4 0.546 0.654 2.4E-10
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		disease 0.630 definitive 1.000 7 0 1989 2017