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: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		STON1-GTF2A1L readthrough 0.682 0.385 1.5E-22
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		disease 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: C4016252
Disease: LEYDIG HYPOPLASIA, TYPE I
LEYDIG HYPOPLASIA, TYPE I 		disease 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: C3668935
Disease: Luteinizing Hormone Resistance, Female
Luteinizing Hormone Resistance, Female 		disease 0.100 None 0 3
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		STON1-GTF2A1L readthrough 0.682 0.385 1.5E-22
CUI: C2674612
Disease: Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty 		disease 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: C2673497
Disease: Leydig Cell Hypoplasia, Type II
Leydig Cell Hypoplasia, Type II 		disease 0.100 None 0 2
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		STON1-GTF2A1L readthrough 0.682 0.385 1.5E-22
CUI: C1859979
Disease: Precocious puberty in males
Precocious puberty in males 		phenotype 0.100 None 0 2
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		STON1-GTF2A1L readthrough 0.682 0.385 1.5E-22
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		disease 0.100 None 0 12
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		STON1-GTF2A1L readthrough 0.682 0.385 1.5E-22
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		disease 0.100 None 0 13
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L 		STON1-GTF2A1L readthrough 0.682 0.385 1.5E-22
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease 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