MCID: 46X082

46,xy Sex Reversal

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Sex Reversal

MalaCards integrated aliases for 46,xy Sex Reversal:

Name: 46,xy Sex Reversal 12 25 15 39
Swyer Syndrome 12 74 52 25 58
Pure Gonadal Dysgenesis 46,xy 12 25 29
Gonadal Dysgenesis, Xy Female Type 52 25
46,xy Complete Gonadal Dysgenesis 25 58
Gonadal Dysgenesis, 46,xy 25 43
46,xy Cgd 25 58
46, Xy Complete Gonadal Dysgenesis 52
46, Xy Pure Gonadal Dysgenesis 52
46,xy Pure Gonadal Dysgenesis 58
Xy Pure Gonadal Dysgenesis 25
46 Xy Gonadal Dysgenesis 12
46,xy Gonadal Dysgenesis 36
46, Xy Cgd 52


Orphanet epidemiological data:

46,xy complete gonadal dysgenesis
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive,Y-linked; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;


Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:14448
KEGG 36 H00607
MeSH 43 D006061
NCIt 49 C120198
ICD10 via Orphanet 33 Q99.1
UMLS via Orphanet 72 C0018054 C2936694
Orphanet 58 ORPHA242
UMLS 71 C0018054

Summaries for 46,xy Sex Reversal

Genetics Home Reference : 25 Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures. People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life. People with Swyer syndrome are typically raised as girls and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps reduce the risk of reduced bone density (osteopenia and osteoporosis). Women with this disorder do not produce eggs (ova), but they may be able to become pregnant with a donated egg or embryo. Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome may also occur along with health conditions such as nerve problems (neuropathy) or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities.

MalaCards based summary : 46,xy Sex Reversal, also known as swyer syndrome, is related to adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete and 46,xy sex reversal 9. An important gene associated with 46,xy Sex Reversal is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Diseases of metabolism. Affiliated tissues include ovary, testes and testis, and related phenotypes are polycystic ovaries and male pseudohermaphroditism

Disease Ontology : 12 A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.

NIH Rare Diseases : 52 Swyer syndrome is a genetic condition affecting sexual organ development, classified as a disorder of sex development (DSD). In Swyer syndrome, people with one X chromosome and one Y chromosome , normally present in males, are born with female external genitalia and underdeveloped gonads (ovaries or testes ) known as streak gonads. Most people with Swyer syndrome are raised as females. Adolescents with this condition do not go through normal puberty and are infertile. Some cases of Swyer syndrome are caused by genetic alterations (mutations ) in one of several genes , but in some cases the cause is unknown. The inheritance pattern depends on the responsible gene. This condition is diagnosed based on the chromosome results, clinical examination, and imaging studies. Treatment includes removal of streak gonads to prevent cancer and hormone replacement therapy from puberty onward. While women with Swyer syndrome are infertile, they may become pregnant with the use of donated eggs.

KEGG : 36 Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial GD with presence of testicular tissue. The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified.

Wikipedia : 74 XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose... more...

Related Diseases for 46,xy Sex Reversal

Diseases in the 46,xx Sex Reversal 1 family:

46,xy Sex Reversal 4 46,xy Sex Reversal 7
46,xy Sex Reversal 11 46,xx Sex Reversal 2
46,xy Sex Reversal 2 46,xx Sex Reversal 3
46,xy Sex Reversal 1 46,xy Sex Reversal 3
46,xy Sex Reversal 5 46,xy Sex Reversal 6
46,xy Sex Reversal 8 46,xy Sex Reversal 9
46,xy Sex Reversal 10 46,xx Sex Reversal 4
46,xx Sex Reversal 5 46,xx Sex Reversal
46,xy Sex Reversal

Diseases related to 46,xy Sex Reversal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 35.5 STAR NR0B1 FDXR FDX1 CYP11A1
2 46,xy sex reversal 9 35.4 ZFPM2-AS1 ZFPM2 WT1 SOX9 NR5A1 GATA4
3 46,xy sex reversal 1 35.4 SRY SOX9
4 46,xy sex reversal 2 35.4 WT1 STAR SOX9 NR5A1 NR0B1 CYP11A1
5 46,xy sex reversal 3 35.3 NR5A1 GATA4
6 campomelic dysplasia 33.6 SRY SOX9 NR5A1
7 chondrodysplasia-pseudohermaphroditism syndrome 33.3 WT1 SOX9 NR5A1 NR0B1 MAP3K1
8 nonsyndromic disorders of testicular development 31.5 SRY NR5A1 NR0B1 MAP3K1 DMRT1 DHH
9 disorders of sexual development 31.5 WT1 STAR SOX9 NR5A1 NR0B1 DMRT1
10 hermaphroditism 31.4 ZFPM2 SRY SOX9 NR0B1 DMRT1
11 46,xx sex reversal 31.3 SRY SOX9 NR5A1 NR0B1 DMRT1 DHH
12 frasier syndrome 31.3 WT1 SRY SOX9 NR5A1
13 gonadoblastoma 31.3 WT1 SRY SOX9 NR5A1 DMRT3 DMRT1
14 anorchia 31.2 SRY NR5A1
15 gonadal dysgenesis 31.2 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
16 wilms tumor 1 31.1 WT1 SRY SOX9 NR5A1 NR0B1 GATA4
17 cryptorchidism, unilateral or bilateral 31.0 ZFPM2 WT1 STAR SOX9 NR5A1 NR0B1
18 lipoid congenital adrenal hyperplasia 30.9 STAR NR5A1 NR0B1 FDXR CYP11A1
19 hypospadias 30.9 WT1 SRY SOX9 NR5A1 GATA4 CYP11A1
20 mixed gonadal dysgenesis 30.9 SRY SOX9 NR5A1 DHH
21 dysgerminoma 30.9 WT1 SRY DMRT1
22 pseudohermaphroditism 30.8 WT1 STAR SRY NR5A1 NR0B1 AKR1C2
23 chromosome 9p deletion syndrome 30.8 DOCK8 DMRT3 DMRT1
24 diaphragmatic hernia, congenital 30.7 ZFPM2 WT1 GATA4
25 46,xy partial gonadal dysgenesis 30.7 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
26 46,xy sex reversal 6 12.9
27 46,xy sex reversal 7 12.9
28 46,xy sex reversal 5 12.9
29 46,xy sex reversal 4 12.9
30 46,xy sex reversal 8 12.9
31 46,xy sex reversal 10 12.9
32 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 12.7
33 46,xy sex reversal 11 12.6
34 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.7
35 genitopalatocardiac syndrome 11.5
36 45,x/46,xy mixed gonadal dysgenesis 10.7 SRY NR0B1 DMRT1 DHH
37 46,xx sex reversal 1 10.7 SRY SOX9 NR5A1 NR0B1
38 adrenal cortical hypofunction 10.7 STAR NR5A1 NR0B1 CYP11A1
39 adrenal cortex disease 10.7 STAR NR5A1 NR0B1 CYP11A1
40 leydig cell tumor 10.7 STAR NR5A1 NR0B1 CYP11A1
41 corticosterone methyloxidase type i deficiency 10.7 NR5A1 NR0B1 FDX1
42 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.7 NR5A1 NR0B1 CYP11A1
43 hypoadrenocorticism, familial 10.7 STAR NR5A1 NR0B1 CYP11A1
44 ovarian gonadoblastoma 10.7 WT1 SOX9 NR0B1 DMRT1
45 diaphragmatic hernia 3 10.6 ZFPM2-AS1 ZFPM2
46 familial glucocorticoid deficiency 10.6 STAR NR5A1 NR0B1 CYP11A1
47 persistent mullerian duct syndrome 10.6 WT1 SOX9 NR5A1 NR0B1 DMRT1
48 adrenal gland disease 10.6 STAR NR5A1 NR0B1 CYP11A1
49 spermatogenic failure 8 10.6 NR5A1 DMRT3 DMRT1
50 steroid inherited metabolic disorder 10.6 STAR NR5A1 NR0B1 FDXR FDX1 CYP11A1

Graphical network of the top 20 diseases related to 46,xy Sex Reversal:

Diseases related to 46,xy Sex Reversal

Symptoms & Phenotypes for 46,xy Sex Reversal

Human phenotypes related to 46,xy Sex Reversal:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0000147
2 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
3 testicular dysgenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008715
4 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
5 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to 46,xy Sex Reversal according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.55 CBX2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.55 MAP3K1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.55 FDX1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.55 FDX1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.55 DMRT3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.55 DMRT3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.55 CBX2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.55 WT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.55 DMRT3 MAP3K1 WT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.55 FDX1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.55 MAP3K1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 9.55 NR5A1

MGI Mouse Phenotypes related to 46,xy Sex Reversal:

# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.7 CBX2 CYP11A1 DHH DMRT1 GATA4 NR0B1
2 reproductive system MP:0005389 9.4 CBX2 CYP11A1 DHH DMRT1 DMRT3 GATA4

Drugs & Therapeutics for 46,xy Sex Reversal

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal

Cochrane evidence based reviews: gonadal dysgenesis, 46,xy

Genetic Tests for 46,xy Sex Reversal

Genetic tests related to 46,xy Sex Reversal:

# Genetic test Affiliating Genes
1 Pure Gonadal Dysgenesis 46,xy 29

Anatomical Context for 46,xy Sex Reversal

MalaCards organs/tissues related to 46,xy Sex Reversal:

Ovary, Testes, Testis, Uterus, Breast, Bone, Lymph Node

Publications for 46,xy Sex Reversal

Articles related to 46,xy Sex Reversal:

(show top 50) (show all 198)
# Title Authors PMID Year
A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. 6 61
9521592 1998
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. 6 61
8105086 1993
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. 6
19361780 2009
Nonsyndromic Disorders of Testicular Development 6
20301714 2008
Consensus statement on management of intersex disorders. 6
18947601 2006
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene. 6
12793612 2003
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. 6
12107262 2002
Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. 6
10852465 2000
A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. 6
10843173 2000
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. 6
9450909 1998
A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function. 6
9443877 1998
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. 6
9150734 1997
An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction. 6
7718558 1995
Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. 6
7985018 1994
A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. 6
7987333 1994
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. 6
8353496 1993
Mutational analysis of SRY in XY females. 6
8257986 1993
A familial mutation in the testis-determining gene SRY shared by both sexes. 6
1483689 1992
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. 6
1415266 1992
XY sex reversal associated with a nonsense mutation in SRY. 6
1639410 1992
Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. 6
1619028 1992
Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. 6
1570829 1992
Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. 6
1339396 1992
DNA binding activity of recombinant SRY from normal males and XY females. 6
1734522 1992
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. 6
1956279 1991
Genetic evidence equating SRY and the testis-determining factor. 6
2247149 1990
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. 6
2247151 1990
XY female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy. 6
2401216 1990
A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome. 61
32565348 2020
Genetic analysis of a Taiwanese family identifies a DMRT3-OAS3 interaction that is involved in human sexual differentiation through the regulation of ESR1 expression. 61
32553473 2020
Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal. 61
32140723 2020
Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature. 61
32380037 2020
Atypical Presentation of Swyer Syndrome. 61
31356871 2019
Swyer Syndrome with Heterotopic Adrenal Cortical Tissue in Streak Gonads: A Rare Case and Review of Literature. 61
32038087 2019
The XY female and SWYER syndrome. 61
31275808 2019
A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both. 61
31576088 2019
Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis. 61
30879272 2019
Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY. 61
30753444 2019
'Size does matter': Prophylactic gonadectomy in a case of Swyer syndrome. 61
30690088 2019
XY oocytes of sex-reversed females with a Sry mutation deviate from the normal developmental process beyond the mitotic stage†. 61
30289439 2019
Causes Of Primary Amenorrhea At Tertiary Level Hospital. 61
30868785 2019
Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review. 61
30224582 2018
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. 61
30552336 2018
Twin gestation in a Swyer syndrome patient with superimposed pre-eclampsia. 61
29421927 2018
Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report. 61
29084462 2018
Familial Swyer syndrome: a rare genetic entity. 61
29069951 2018
Sensorineural hearing loss in a patient with Swyer syndrome. 61
29200406 2018
Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature. 61
29760778 2018
A Case of Primary Amenorrhea with Swyer Syndrome. 61
29430160 2017
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. 61
28434637 2017

Variations for 46,xy Sex Reversal

Expression for 46,xy Sex Reversal

Search GEO for disease gene expression data for 46,xy Sex Reversal.

Pathways for 46,xy Sex Reversal

Pathways related to 46,xy Sex Reversal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.62 WT1 SOX9 GATA4
Show member pathways
11.4 FDXR FDX1 CYP11A1
Show member pathways
10.96 CYP11A1 AKR1C4 AKR1C2
Show member pathways
5 10.75 AKR1C4 AKR1C2
6 10.11 FDXR FDX1

GO Terms for 46,xy Sex Reversal

Cellular components related to 46,xy Sex Reversal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.23 ZFPM2 SRY SOX9 NR5A1 NR0B1 GATA4

Biological processes related to 46,xy Sex Reversal according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.21 WT1 SRY SOX9 NR5A1 NR0B1 GATA4
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
3 cell differentiation GO:0030154 10.13 ZFPM2 SRY SOX9 NR5A1 NR0B1 DMRT3
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.11 ZFPM2 WT1 SRY SOX9 NR0B1 DMRT1
5 positive regulation of transcription, DNA-templated GO:0045893 10.07 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
6 positive regulation of gene expression GO:0010628 10.04 WT1 STAR SRY SOX9 NR5A1
7 steroid metabolic process GO:0008202 9.88 FDXR FDX1 CYP11A1 AKR1C4 AKR1C2
8 cholesterol metabolic process GO:0008203 9.85 STAR FDXR FDX1 CYP11A1
9 cellular response to cAMP GO:0071320 9.77 WT1 STAR FDX1
10 sterol metabolic process GO:0016125 9.73 FDXR FDX1 CYP11A1
11 steroid biosynthetic process GO:0006694 9.72 STAR NR0B1 FDXR FDX1 CYP11A1
12 adrenal gland development GO:0030325 9.71 WT1 NR5A1 NR0B1
13 sex differentiation GO:0007548 9.71 SRY DMRT3 DMRT1 CBX2
14 male gonad development GO:0008584 9.7 WT1 STAR SOX9 NR5A1 NR0B1 GATA4
15 C21-steroid hormone metabolic process GO:0008207 9.69 CYP11A1 AKR1C4 AKR1C2
16 regulation of steroid biosynthetic process GO:0050810 9.67 STAR NR5A1 DHH
17 cardiac muscle tissue development GO:0048738 9.65 ZFPM2 GATA4
18 gonad development GO:0008406 9.65 WT1 NR0B1
19 Sertoli cell development GO:0060009 9.65 SOX9 DMRT1
20 Leydig cell differentiation GO:0033327 9.64 NR0B1 DHH
21 progesterone metabolic process GO:0042448 9.63 AKR1C4 AKR1C2
22 doxorubicin metabolic process GO:0044598 9.63 AKR1C4 AKR1C2
23 sex determination GO:0007530 9.63 WT1 NR5A1 NR0B1
24 daunorubicin metabolic process GO:0044597 9.62 AKR1C4 AKR1C2
25 cellular response to gonadotropin stimulus GO:0071371 9.61 WT1 STAR
26 Sertoli cell differentiation GO:0060008 9.61 SOX9 NR0B1 DMRT1
27 cellular response to jasmonic acid stimulus GO:0071395 9.58 AKR1C4 AKR1C2
28 male sex differentiation GO:0046661 9.58 DMRT3 DMRT1
29 C21-steroid hormone biosynthetic process GO:0006700 9.56 STAR FDXR FDX1 CYP11A1
30 negative regulation of female gonad development GO:2000195 9.54 ZFPM2 WT1 NR5A1
31 male sex determination GO:0030238 9.43 SRY SOX9 NR5A1 NR0B1 DMRT1 DHH
32 positive regulation of male gonad development GO:2000020 9.1 ZFPM2 WT1 SRY SOX9 NR5A1 DMRT1

Molecular functions related to 46,xy Sex Reversal according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.95 ZFPM2 WT1 NR5A1 MAP3K1 GATA4 DHH
2 DNA binding GO:0003677 9.85 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.84 WT1 SOX9 NR5A1 GATA4
4 DNA-binding transcription factor activity GO:0003700 9.8 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
5 proximal promoter sequence-specific DNA binding GO:0000987 9.67 SOX9 GATA4 DMRT1
6 alcohol dehydrogenase (NADP+) activity GO:0008106 9.52 AKR1C4 AKR1C2
7 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.51 AKR1C4 AKR1C2
8 sequence-specific DNA binding GO:0043565 9.5 WT1 SOX9 NR5A1 NR0B1 GATA4 DMRT3
9 bile acid binding GO:0032052 9.46 AKR1C4 AKR1C2
10 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor GO:0016655 9.43 AKR1C4 AKR1C2
11 steroid dehydrogenase activity GO:0016229 9.4 AKR1C4 AKR1C2
12 androsterone dehydrogenase activity GO:0047023 9.37 AKR1C4 AKR1C2
13 ketosteroid monooxygenase activity GO:0047086 9.32 AKR1C4 AKR1C2
14 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1

Sources for 46,xy Sex Reversal

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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