46,xy Sex Reversal 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: 46X051 MIFTS: 31	46,xy Sex Reversal 1 Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

Sources

Aliases & Classifications for 46,xy Sex Reversal 1

MalaCards integrated aliases for 46,xy Sex Reversal 1:

Name: 46,xy Sex Reversal 1 ⁵⁷ ⁷⁵

46,xy Sex Reversal, Type 1 ²⁹ ⁶ ⁴⁰

46,xy Gonadal Dysgenesis, Complete, Sry-Related ⁵⁷ ⁷³

46xy Sex Reversal 1 ⁵⁷ ¹³

Swyer Syndrome ⁷⁵ ⁷³

Srxy1 ⁵⁷ ⁷⁵

46,xy Gonadal Dysgenesis Complete Sry-Related ⁷⁵

46,xy True Hermaphroditism, Sry-Related ⁶

46,xy True Hermaphroditism Sry-Related ⁷⁵

Gonadal Dysgenesis Xy Female Type ⁷⁵

46,xy Sex Reversal, Sry-Related ⁵⁷

46,xy Sex Reversal Sry-Related ⁷⁵

Gonadal Dysgenesis, 46,xy ⁷³

46, Xy Female ⁷³

Xy Females ⁷⁵

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 400044

MedGen ⁴² C2748896 C2748897 C2748898 more

MeSH ⁴⁴ D006061

SNOMED-CT via HPO ⁶⁹ 111332007 248328003 205681004 more

UMLS ⁷³ C2748896 C2936694 C0432470

Sources

Summaries for 46,xy Sex Reversal 1

UniProtKB/Swiss-Prot : ⁷⁵ 46,XY sex reversal 1: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal.

MalaCards based summary : 46,xy Sex Reversal 1, also known as 46,xy sex reversal, type 1, is related to 46, xy disorders of sexual development and 46 xy gonadal dysgenesis. An important gene associated with 46,xy Sex Reversal 1 is SRY (Sex Determining Region Y). Affiliated tissues include uterus, lymph node and breast, and related phenotypes are primary amenorrhea and absence of secondary sex characteristics

OMIM : ⁵⁷ Individuals with 46,XY complete gonadal dysgenesis are phenotypically female; however, they do not develop secondary sexual characteristics at puberty and do not menstruate. They have bilateral 'streak gonads,' which typically consist of fibrous tissue and variable amounts of wavy ovarian stroma. A uterus and fallopian tube are present and external genitalia are female (reviewed by Berkovitz et al., 1991). (400044)

Sources

Related Diseases for 46,xy Sex Reversal 1

Diseases related to 46,xy Sex Reversal 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	46, xy disorders of sexual development	11.7
2	46 xy gonadal dysgenesis	11.6
3	46,xy sex reversal 10	11.0

Sources

Symptoms & Phenotypes for 46,xy Sex Reversal 1

Clinical features from OMIM:

400044

Human phenotypes related to 46,xy Sex Reversal 1:

³² (show all 7)

#	Description	HPO Source Accession
1	primary amenorrhea ³²	HP:0000786
2	absence of secondary sex characteristics ³²	HP:0008187
3	male pseudohermaphroditism ³²	HP:0000037
4	tall stature ³²	HP:0000098
5	abnormality of female external genitalia ³²	HP:0000055
6	sex reversal ³²	HP:0012245
7	gonadal dysgenesis ³²	HP:0000133

Sources

Drugs & Therapeutics for 46,xy Sex Reversal 1

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 1

Sources

Genetic Tests for 46,xy Sex Reversal 1

Genetic tests related to 46,xy Sex Reversal 1:

#	Genetic test	Affiliating Genes
1	46,xy Sex Reversal, Type 1 ²⁹	SRY

Sources

Anatomical Context for 46,xy Sex Reversal 1

MalaCards organs/tissues related to 46,xy Sex Reversal 1:

⁴¹

Uterus, Lymph Node, Breast

Sources

Publications for 46,xy Sex Reversal 1

Articles related to 46,xy Sex Reversal 1:

(show top 50) (show all 55)

#	Title	Authors	Year
1	Twin gestation in a Swyer syndrome patient with superimposed pre-eclampsia. ( 29421927 )	Shah J.S....Sibai B.	2018
2	Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )	Yao Y....Guo H.Y.	2017
3	Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. ( 28479759 )	Agarwal A....Agarwal S.	2017
4	Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. ( 29746049 )	Maharjan A....Li H.	2017
5	A Case of Primary Amenorrhea with Swyer Syndrome. ( 29430160 )	Priya P.K....Rizvi J.S.	2017
6	Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )	Milewicz T....Chmura A.8.	2016
7	Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )	Yadav P....Gujrati A.	2016
8	Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )	Kumar N.P....James F.V.	2016
9	A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. ( 25960730 )	Da Silva Rios S....Silva H.S.	2015
10	A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia. ( 26643315 )	Kulathilake D.T....Jayasundara C.	2015
11	The laparoscopic management of Swyer syndrome: Case series. ( 26692777 )	Malhotra N....Deka D.	2015
12	Incidental gonadal tumors at the time of gonadectomy in women with swyer syndrome: a case series. ( 25532682 )	Hanlon A.J....Kimble R.M.	2015
13	Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )	Gonzalez-Benitez C....Zapardiel I.	2014
14	Swyer syndrome. ( 25314337 )	King T.F....Conway G.S.	2014
15	Swyer Syndrome With Seminoma: Laparoscopic Bilateral Gonad Resection. ( 25460519 )	Chen Z....Chen Y.	2014
16	Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. ( 25153220 )	Mutlu G.Y....Celayir A.C.	2014
17	Familial Swyer syndrome in two sisters with undeveloped uterus. ( 24832210 )	Ates S....Dane B.	2014
18	Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 24711536 )		2014
19	Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 23486885 )	Al-Thubaiti I....Binfalah M.	2013
20	Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. ( 24119655 )	Nunes E....Aguas F.	2013
21	Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. ( 25606286 )	Azidah A....Aishah M.	2013
22	Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome. ( 22176344 )	Moreira A.I....Lanhoso A.	2012
23	Swyer syndrome : a case report with literature review. ( 23478733 )	Patnayak R....Sachan A.	2012
24	Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. ( 21782051 )	Creatsas G....Kreatsa M.	2011
25	Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. ( 21929773 )	Han Y....Wang E.	2011
26	Pregnancy in patient with Swyer syndrome. ( 21195397 )	Tulic I....Micic J.	2011
27	Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. ( 22268289 )	Zhu J....Lu X.	2011
28	Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype. ( 21145048 )	Bagci G....Luleci G.	2011
29	Malignant germ cell tumors associated with Swyer syndrome. ( 21225934 )	Stachowicz-Stencel T....Balcerska A.	2011
30	Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. ( 19914618 )	Karimian N....Eshraghi M.	2010
31	Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). ( 20551568 )	Fernandes G.C....Kane S.V.	2010
32	Hypoplastic uterus and clitoris enlargement in Swyer syndrome. ( 19643642 )	HActu V....Francoeur D.	2010
33	Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. ( 18990383 )	Marchina E....Barlati S.	2009
34	Swyer syndrome: presentation and outcomes. ( 18410658 )	Michala L....Conway G.S.	2008
35	Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile. ( 18312345 )	Ng S.B....Looijenga L.H.	2008
36	Medical image. A prepubescent mass. Swyer syndrome with a bilateral dysgerminoma. ( 18392069 )	Addley H.C....Sala E.	2008
37	Pure 46,XY gonadal dysgenesis (Swyer syndrome) with breast development and secondary amenorrhea. ( 18645253 )	Ilter E....Ozden S.	2008
38	Dysgerminoma in three patients with Swyer syndrome. ( 17587461 )	Behtash N....Karimi Zarchi M.	2007
39	Tumors of dysgenetic gonads in Swyer syndrome. ( 17923202 )	ZieliA+ska D....Rzepka-GA^rska I.	2007
40	Multiple different ovarian cancer histotypes in a patient affected by Swyer syndrome. ( 16677695 )	Caponetti R....Gravante G.	2006
41	Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. ( 16601852 )	Loreth R.M....Oldenburg J.	2006
42	Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimA1llerian hormone in utero: a case report. ( 16846094 )	Kahyaoglu S....Batioglu S.	2006
43	Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). ( 15183752 )	Iliopoulos D....Voyiatzis N.	2004
44	46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia. ( 15389702 )	Kent A....Silink M.	2004
45	Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype. ( 12012620 )	Kempe A....Schmutzler R.K.	2002
46	Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. ( 9718353 )	Veitia R.A....Lavinha J.	1998
47	A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. ( 9341876 )	Battiloro E....D'Ambrosio E.	1997
48	Swyer syndrome: an unusual presentation. ( 7649326 )	Morsy A.H....Farag T.I.	1995
49	Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. ( 1495740 )	Parker M....Park R.	1992
50	Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. ( 1533025 )	Wilson E.E....Carr B.R.	1992

Sources

Genes for 46,xy Sex Reversal 1

Genes/enhancers related to 46,xy Sex Reversal 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SRY	Sex Determining Region Y	Protein Coding	1330.3	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	1339396 2247151 20301714 (more) 18947601 1483689 1570829 1639410 1734522 1956279 8257986 2247149 9450909 12793612 7987333 7718558 7985018 1415266 1619028 9150734 8353496 9443877 2401216 9521592 10843173 10852465 12107262 8105086
1	SRY::GH0YJ002786	TSS distance: +0.4kb			Curated enhancer-disease association ²³ ( 27569544 )	9452083

Sources

Variations for 46,xy Sex Reversal 1

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 1:

⁷⁵ (show all 27)

#	Symbol	AA change	Variation ID	SNP ID
1	SRY	p.Ser18Asn	VAR_003717	rs104894971
2	SRY	p.Val60Ala	VAR_003718	rs764249635
3	SRY	p.Val60Leu	VAR_003719	rs104894957
4	SRY	p.Arg62Gly	VAR_003720
5	SRY	p.Met64Ile	VAR_003721	rs104894969
6	SRY	p.Ile68Thr	VAR_003722	rs104894968
7	SRY	p.Met78Thr	VAR_003723
8	SRY	p.Ile90Met	VAR_003724	rs104894959
9	SRY	p.Ser91Gly	VAR_003725
10	SRY	p.Gly95Arg	VAR_003726	rs104894974
11	SRY	p.Leu101His	VAR_003727
12	SRY	p.Lys106Ile	VAR_003728	rs104894964
13	SRY	p.Pro108Arg	VAR_003729
14	SRY	p.Phe109Ser	VAR_003730	rs104894956
15	SRY	p.Ala113Thr	VAR_003731	rs104894966
16	SRY	p.Pro125Leu	VAR_003732
17	SRY	p.Tyr127Cys	VAR_003733
18	SRY	p.Arg133Trp	VAR_003734	rs104894976
19	SRY	p.Met64Arg	VAR_017298
20	SRY	p.Phe67Val	VAR_017299
21	SRY	p.Arg76Ser	VAR_017300
22	SRY	p.Asn87Tyr	VAR_017301
23	SRY	p.Gly95Glu	VAR_017302	rs104894972
24	SRY	p.Tyr127Phe	VAR_017303	rs104894973
25	SRY	p.Pro131Arg	VAR_017304
26	SRY	p.Ser3Leu	VAR_030019
27	SRY	p.Arg75Met	VAR_078433

ClinVar genetic disease variations for 46,xy Sex Reversal 1:

⁶

(show top 50) (show all 56)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SRY	NM_003140.2(SRY): c.364_367delGAGA (p.Glu122Asnfs)	deletion	Pathogenic	rs606231178	GRCh38	Chromosome Y, 2787237: 2787240
2	SRY	NM_003140.2(SRY): c.364_367delGAGA (p.Glu122Asnfs)	deletion	Pathogenic	rs606231178	GRCh37	Chromosome Y, 2655278: 2655281
3	SRY	NM_003140.2(SRY): c.326T> C (p.Phe109Ser)	single nucleotide variant	Pathogenic	rs104894956	GRCh37	Chromosome Y, 2655319: 2655319
4	SRY	NM_003140.2(SRY): c.326T> C (p.Phe109Ser)	single nucleotide variant	Pathogenic	rs104894956	GRCh38	Chromosome Y, 2787278: 2787278
5	SRY	NM_003140.2(SRY): c.178G> C (p.Val60Leu)	single nucleotide variant	Pathogenic	rs104894957	GRCh37	Chromosome Y, 2655467: 2655467
6	SRY	NM_003140.2(SRY): c.178G> C (p.Val60Leu)	single nucleotide variant	Pathogenic	rs104894957	GRCh38	Chromosome Y, 2787426: 2787426
7	SRY	NM_003140.2(SRY): c.277C> T (p.Gln93Ter)	single nucleotide variant	Pathogenic	rs104894958	GRCh37	Chromosome Y, 2655368: 2655368
8	SRY	NM_003140.2(SRY): c.277C> T (p.Gln93Ter)	single nucleotide variant	Pathogenic	rs104894958	GRCh38	Chromosome Y, 2787327: 2787327
9	SRY	NM_003140.2(SRY): c.270C> G (p.Ile90Met)	single nucleotide variant	Pathogenic	rs104894959	GRCh37	Chromosome Y, 2655375: 2655375
10	SRY	NM_003140.2(SRY): c.270C> G (p.Ile90Met)	single nucleotide variant	Pathogenic	rs104894959	GRCh38	Chromosome Y, 2787334: 2787334
11	SRY	NM_003140.2(SRY): c.317A> T (p.Lys106Ile)	single nucleotide variant	Pathogenic	rs104894964	GRCh37	Chromosome Y, 2655328: 2655328
12	SRY	NM_003140.2(SRY): c.317A> T (p.Lys106Ile)	single nucleotide variant	Pathogenic	rs104894964	GRCh38	Chromosome Y, 2787287: 2787287
13	SRY	NM_003140.2(SRY): c.324delA (p.Phe109Serfs)	deletion	Pathogenic	rs606231179	GRCh38	Chromosome Y, 2787280: 2787280
14	SRY	NM_003140.2(SRY): c.324delA (p.Phe109Serfs)	deletion	Pathogenic	rs606231179	GRCh37	Chromosome Y, 2655321: 2655321
15	SRY	NM_003140.2(SRY): c.337G> A (p.Ala113Thr)	single nucleotide variant	Pathogenic	rs104894966	GRCh37	Chromosome Y, 2655308: 2655308
16	SRY	NM_003140.2(SRY): c.337G> A (p.Ala113Thr)	single nucleotide variant	Pathogenic	rs104894966	GRCh38	Chromosome Y, 2787267: 2787267
17	SRY	NM_003140.2(SRY): c.320G> A (p.Trp107Ter)	single nucleotide variant	Pathogenic	rs104894967	GRCh37	Chromosome Y, 2655325: 2655325
18	SRY	NM_003140.2(SRY): c.320G> A (p.Trp107Ter)	single nucleotide variant	Pathogenic	rs104894967	GRCh38	Chromosome Y, 2787284: 2787284
19	SRY	NM_003140.2(SRY): c.203T> C (p.Ile68Thr)	single nucleotide variant	Pathogenic	rs104894968	GRCh37	Chromosome Y, 2655442: 2655442
20	SRY	NM_003140.2(SRY): c.203T> C (p.Ile68Thr)	single nucleotide variant	Pathogenic	rs104894968	GRCh38	Chromosome Y, 2787401: 2787401
21	SRY	NM_003140.2(SRY): c.192G> A (p.Met64Ile)	single nucleotide variant	Pathogenic	rs104894969	GRCh37	Chromosome Y, 2655453: 2655453
22	SRY	NM_003140.2(SRY): c.192G> A (p.Met64Ile)	single nucleotide variant	Pathogenic	rs104894969	GRCh38	Chromosome Y, 2787412: 2787412
23	SRY	NM_003140.2(SRY): c.209G> A (p.Trp70Ter)	single nucleotide variant	Pathogenic	rs104894965	GRCh37	Chromosome Y, 2655436: 2655436
24	SRY	NM_003140.2(SRY): c.209G> A (p.Trp70Ter)	single nucleotide variant	Pathogenic	rs104894965	GRCh38	Chromosome Y, 2787395: 2787395
25	SRY	NM_003140.2(SRY): c.274A> T (p.Lys92Ter)	single nucleotide variant	Pathogenic	rs104894970	GRCh37	Chromosome Y, 2655371: 2655371
26	SRY	NM_003140.2(SRY): c.274A> T (p.Lys92Ter)	single nucleotide variant	Pathogenic	rs104894970	GRCh38	Chromosome Y, 2787330: 2787330
27	SRY	NM_003140.2(SRY): c.283G> C (p.Gly95Arg)	single nucleotide variant	Pathogenic	rs104894974	GRCh37	Chromosome Y, 2655362: 2655362
28	SRY	NM_003140.2(SRY): c.283G> C (p.Gly95Arg)	single nucleotide variant	Pathogenic	rs104894974	GRCh38	Chromosome Y, 2787321: 2787321
29	SRY	NM_003140.2(SRY): c.12T> A (p.Tyr4Ter)	single nucleotide variant	Pathogenic	rs104894975	GRCh37	Chromosome Y, 2655633: 2655633
30	SRY	NM_003140.2(SRY): c.12T> A (p.Tyr4Ter)	single nucleotide variant	Pathogenic	rs104894975	GRCh38	Chromosome Y, 2787592: 2787592
31	SRY	NM_003140.2(SRY): c.397C> T (p.Arg133Trp)	single nucleotide variant	Pathogenic	rs104894976	GRCh37	Chromosome Y, 2655248: 2655248
32	SRY	NM_003140.2(SRY): c.397C> T (p.Arg133Trp)	single nucleotide variant	Pathogenic	rs104894976	GRCh38	Chromosome Y, 2787207: 2787207
33	SRY	NM_003140.2(SRY): c.4C> T (p.Gln2Ter)	single nucleotide variant	Pathogenic	rs104894977	GRCh37	Chromosome Y, 2655641: 2655641
34	SRY	NM_003140.2(SRY): c.4C> T (p.Gln2Ter)	single nucleotide variant	Pathogenic	rs104894977	GRCh38	Chromosome Y, 2787600: 2787600
35	SRY	NM_003140.2(SRY): c.53G> A (p.Ser18Asn)	single nucleotide variant	Pathogenic	rs104894971	GRCh37	Chromosome Y, 2655592: 2655592
36	SRY	NM_003140.2(SRY): c.53G> A (p.Ser18Asn)	single nucleotide variant	Pathogenic	rs104894971	GRCh38	Chromosome Y, 2787551: 2787551
37	SRY	NM_003140.2(SRY): c.284G> A (p.Gly95Glu)	single nucleotide variant	Pathogenic	rs104894972	GRCh37	Chromosome Y, 2655361: 2655361
38	SRY	NM_003140.2(SRY): c.284G> A (p.Gly95Glu)	single nucleotide variant	Pathogenic	rs104894972	GRCh38	Chromosome Y, 2787320: 2787320
39	SRY	NM_003140.2(SRY): c.380A> T (p.Tyr127Phe)	single nucleotide variant	Pathogenic	rs104894973	GRCh37	Chromosome Y, 2655265: 2655265
40	SRY	NM_003140.2(SRY): c.380A> T (p.Tyr127Phe)	single nucleotide variant	Pathogenic	rs104894973	GRCh38	Chromosome Y, 2787224: 2787224
41	SRY	NM_003140.2(SRY): c.227G> T (p.Arg76Leu)	single nucleotide variant	Likely pathogenic	rs1057519627	GRCh38	Chromosome Y, 2787377: 2787377
42	SRY	NM_003140.2(SRY): c.227G> T (p.Arg76Leu)	single nucleotide variant	Likely pathogenic	rs1057519627	GRCh37	Chromosome Y, 2655418: 2655418
43	SRY	NM_003140.2(SRY): c.331C> T (p.Gln111Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome Y, 2787273: 2787273
44	SRY	NM_003140.2(SRY): c.331C> T (p.Gln111Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome Y, 2655314: 2655314
45	SRY	NM_003140.2(SRY): c.380A> G (p.Tyr127Cys)	single nucleotide variant	Uncertain significance	rs104894973	GRCh37	Chromosome Y, 2655265: 2655265
46	SRY	NM_003140.2(SRY): c.380A> G (p.Tyr127Cys)	single nucleotide variant	Uncertain significance	rs104894973	GRCh38	Chromosome Y, 2787224: 2787224
47	SRY	NM_003140.2(SRY): c.264dup (p.Glu89Argfs)	duplication	Pathogenic		GRCh37	Chromosome Y, 2655381: 2655381
48	SRY	NM_003140.2(SRY): c.264dup (p.Glu89Argfs)	duplication	Pathogenic		GRCh38	Chromosome Y, 2787340: 2787340
49	SRY	NM_003140.2(SRY): c.266A> C (p.Glu89Ala)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome Y, 2655379: 2655379
50	SRY	NM_003140.2(SRY): c.266A> C (p.Glu89Ala)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome Y, 2787338: 2787338

Sources

Expression for 46,xy Sex Reversal 1

Search GEO for disease gene expression data for 46,xy Sex Reversal 1.

Sources

Pathways for 46,xy Sex Reversal 1

Sources

GO Terms for 46,xy Sex Reversal 1

Sources

Sources for 46,xy Sex Reversal 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia