Ген	Полное название	Тип связи	Тип гена	OMIM
DHX37	DEAH-box helicase 37	Disease-causing germline mutation(s) in	gene with protein product	617362
WT1	WT1 transcription factor	Candidate gene tested in	gene with protein product	607102
SOX9	SRY-box transcription factor 9	Disease-causing germline mutation(s) in	gene with protein product	608160
SRY	sex determining region Y	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	480000
DHH	desert hedgehog signaling molecule	Disease-causing germline mutation(s) in	gene with protein product	605423
NR5A1	nuclear receptor subfamily 5 group A member 1	Disease-causing germline mutation(s) in	gene with protein product	184757
NR0B1	nuclear receptor subfamily 0 group B member 1	Disease-causing germline mutation(s) in	gene with protein product	300473
CBX2	chromobox 2	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	602770
MAP3K1	mitogen-activated protein kinase kinase kinase 1	Disease-causing germline mutation(s) in	gene with protein product	600982
DMRT1	doublesex and mab-3 related transcription factor 1	Role in the phenotype of	gene with protein product	602424

Фенотипы (HPO)4

Очень частый (80–99%)4

HP:0000037Male pseudohermaphroditism

HP:0000044Hypogonadotropic hypogonadism

HP:0000147Polycystic ovaries

HP:0008715Testicular dysgenesis

Эпидемиология2

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	Unknown	—	Worldwide	Class only
Prevalence at birth	Unknown	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)