Source: CLINVAR

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: 11036
Gene Symbol: GTF2A1L
GTF2A1L 		general transcription factor IIA subunit 1 like 0.678 0.385 2.8E-11
CUI: C4023702
Disease: Hyoplasia of the Leydig cells
Hyoplasia of the Leydig cells 		phenotype 0.100 None 0 1
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		STON1-GTF2A1L readthrough 0.682 0.385 1.5E-22
CUI: C4023702
Disease: Hyoplasia of the Leydig cells
Hyoplasia of the Leydig cells 		phenotype 0.100 None 0 1
Entrez Id: 3973
Gene Symbol: LHCGR
LHCGR 		luteinizing hormone/choriogonadotropin receptor 0.528 0.692 5.3E-08
CUI: C4023702
Disease: Hyoplasia of the Leydig cells
Hyoplasia of the Leydig cells 		phenotype 0.100 None 0 1