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This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此内含子的基因编码的转录因子,它是高迁移率组(HMG)-box家族DNA结合蛋白中的一员。这种蛋白质是睾丸决定因子(TDF),从而启动男性的决心。在这个基因的突变引起的XY女性与性腺发育不全(Swyer综合征);含有该基因的X染色体Y染色体的一部分的易位导致XX男性综合征。 [由RefSeq的,2008年7月提供]
SRY基因(以及对应的蛋白质)的细胞分布位置:
SRY基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
46,Xy Gonadal Dysgenesis, Complete, Sry-Related | 0.36 | 22 | 20 | CLINVAR_CTD_human_UNIPROT |
Ovotesticular Disorders of Sex Development | 0.24408156 | 6 | 0 | BeFree_CTD_human_LHGDN_ORPHANET |
XX males | 0.128143256 | 30 | 0 | BeFree_ORPHANET |
Swyer Syndrome | 0.125624334 | 12 | 0 | BeFree_GAD_ORPHANET |
46, XX Testicular Disorders of Sex Development | 0.122714419 | 10 | 0 | BeFree_ORPHANET |
46,Xy True Hermaphroditism, Sry-Related | 0.12 | 0 | 1 | CLINVAR |
Gonadal Dysgenesis | 0.017130633 | 36 | 4 | BeFree_LHGDN |
Turner Syndrome | 0.012757768 | 47 | 4 | BeFree |
Gonadal Dysgenesis, 46,XY | 0.007881746 | 19 | 0 | BeFree_LHGDN |
46, XY female | 0.007328931 | 27 | 1 | BeFree |
HIV Infections | 0.005971721 | 22 | 0 | BeFree |
True Hermaphroditism (disorder) | 0.004885954 | 18 | 0 | BeFree |
Pure gonadal dysgenesis | 0.003800186 | 14 | 0 | BeFree |
Hypospadias | 0.003452799 | 5 | 0 | BeFree_GAD |
Male infertility | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Virilism | 0.002985861 | 11 | 0 | BeFree |
Ambiguous Genitalia | 0.002985861 | 11 | 0 | BeFree |
Infertility | 0.00272435 | 1 | 0 | LHGDN |
Gonadoblastoma | 0.002171535 | 8 | 0 | BeFree |
Gonadal Dysgenesis, Mixed | 0.001900093 | 7 | 0 | BeFree |
Disorders of Sex Development | 0.001900093 | 7 | 0 | BeFree |
Carcinogenesis | 0.001628651 | 6 | 0 | BeFree |
Hepatitis B | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of prostate | 0.001357209 | 5 | 0 | BeFree |
Prostate carcinoma | 0.001357209 | 5 | 0 | BeFree |
CAMPOMELIC DYSPLASIA | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
Decompression Sickness | 0.001085767 | 4 | 0 | BeFree |
Nephroblastoma | 0.001085767 | 4 | 0 | BeFree |
Streak gonad | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Azoospermia | 0.000814326 | 3 | 0 | BeFree |
Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Klinefelter Syndrome | 0.000814326 | 3 | 0 | BeFree |
Schizophrenia | 0.000814326 | 3 | 1 | BeFree |
46, XX true hermaphrodite | 0.000814326 | 3 | 0 | BeFree |
Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
Penile hypospadias | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Congenital adrenal hyperplasia | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
Scleroderma | 0.000542884 | 2 | 0 | BeFree |
Dysgerminoma | 0.000542884 | 2 | 0 | BeFree |
Hermaphroditism | 0.000542884 | 2 | 0 | BeFree |
Muscular Dystrophy | 0.000542884 | 2 | 0 | BeFree |
Nausea | 0.000542884 | 2 | 0 | BeFree |
Placental Insufficiency | 0.000542884 | 2 | 0 | BeFree |
Systemic Scleroderma | 0.000542884 | 2 | 0 | BeFree |
Trisomy X syndrome | 0.000542884 | 2 | 0 | BeFree |
Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
Klinefelter's syndrome - male with more than two X chromosomes | 0.000542884 | 2 | 0 | BeFree |
Testicular Feminization | 0.000542884 | 2 | 0 | BeFree |
Primary hypogonadism | 0.000542884 | 2 | 0 | BeFree |
Congenital absence of both testes | 0.000542884 | 2 | 0 | BeFree |
46, XY Disorders of Sex Development | 0.000542884 | 2 | 0 | BeFree |
Testicular dysgenesis syndrome | 0.000542884 | 2 | 0 | BeFree |
46, XX Disorders of Sex Development | 0.000542884 | 2 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of prostate | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Connective Tissue Diseases | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Dizziness | 0.000271442 | 1 | 0 | BeFree |
Dwarfism | 0.000271442 | 1 | 0 | BeFree |
Eclampsia | 0.000271442 | 1 | 0 | BeFree |
Yolk Sac Tumor | 0.000271442 | 1 | 1 | BeFree |
Fragile X Syndrome | 0.000271442 | 1 | 0 | BeFree |
Graft-vs-Host Disease | 0.000271442 | 1 | 0 | BeFree |
Chronic granulomatous disease | 0.000271442 | 1 | 0 | BeFree |
Hirschsprung Disease | 0.000271442 | 1 | 0 | BeFree |
Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
Hypopituitarism | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, Non-Hodgkin | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Oligospermia | 0.000271442 | 1 | 0 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Rett Syndrome | 0.000271442 | 1 | 0 | BeFree |
Sertoli Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
Sex Chromosome Aberrations | 0.000271442 | 1 | 0 | BeFree |
Teratoma | 0.000271442 | 1 | 0 | BeFree |
Androgen-Insensitivity Syndrome | 0.000271442 | 1 | 0 | BeFree |
Vertigo | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Testicular hypogonadism | 0.000271442 | 1 | 0 | BeFree |
Hypertrophy of clitoris | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Dream disorder | 0.000271442 | 1 | 0 | BeFree |
Gonadal Dysgenesis, 45,X | 0.000271442 | 1 | 0 | BeFree |
Multiple tumors | 0.000271442 | 1 | 0 | BeFree |
Acardiac monster | 0.000271442 | 1 | 0 | BeFree |
Hypogonadotropic hypogonadism | 0.000271442 | 1 | 0 | BeFree |
Cervical Squamous Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.000271442 | 1 | 0 | BeFree |
Acute HIV infection | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Keratoderma with scleroatrophy of the extremities | 0.000271442 | 1 | 0 | BeFree |
Sleeplessness | 0.000271442 | 1 | 0 | BeFree |
Frasier Syndrome | 0.000271442 | 1 | 0 | BeFree |
Primary testicular failure | 0.000271442 | 1 | 0 | BeFree |
Congenital absence of germinal epithelium of testes | 0.000271442 | 1 | 0 | BeFree |
WAARDENBURG SYNDROME, TYPE 4A | 0.000271442 | 1 | 0 | BeFree |
Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
Intersex Conditions | 0.000271442 | 1 | 0 | BeFree |
Hirschsprung disease 1 | 0.000271442 | 1 | 0 | BeFree |
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