ODG1
MCID: OVR075
MIFTS: 37

Ovarian Dysgenesis 1 (ODG1)

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

Aliases & Classifications for Ovarian Dysgenesis 1

MalaCards integrated aliases for Ovarian Dysgenesis 1:

Name: Ovarian Dysgenesis 1 57 12 72 29 13 6
Xx Gonadal Dysgenesis 57 72 54
Gonadal Dysgenesis, Xx Type 57 73
Odg1 57 72
Xxgd 57 72
Ovarian Dysgenesis, Hypergonadotropic, with Normal Karyotype 57
Ovarian Dysgenesis, Hypergonadotropic, Autosomal Recessive 57
Hypergonadotropic Ovarian Dysgenesis with Normal Karyotype 72
Hypergonadotropic Ovarian Dysgenesis Autosomal Recessive 72
Ovarian Failure, Hypergonadotropic 57
Hypergonadotropic Ovarian Failure 72
Xx Gonadal Dysgenesis; Xxgd 57
Dysgenesis, Ovarian, Type 1 39
Ovarian Failure, Premature 70
Gonadal Dysgenesis Xx Type 72
Gonadal Dysgenesis, 46,xx 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ovarian dysgenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080493
OMIM® 57 233300
OMIM Phenotypic Series 57 PS233300
MeSH 44 D023961
UMLS 70 C0085215 C0949595

Summaries for Ovarian Dysgenesis 1

UniProtKB/Swiss-Prot : 72 Ovarian dysgenesis 1: An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle- stimulating hormone (FSH) and luteinizing hormone (LH).

MalaCards based summary : Ovarian Dysgenesis 1, also known as xx gonadal dysgenesis, is related to 46 xx gonadal dysgenesis and 46,xx sex reversal 1, and has symptoms including pelvic pain An important gene associated with Ovarian Dysgenesis 1 is FSHR (Follicle Stimulating Hormone Receptor). The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include ovary, and related phenotypes are increased circulating gonadotropin level and osteoporosis

Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.

OMIM® : 57 Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). (233300) (Updated 05-Apr-2021)

Wikipedia : 73 XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to... more...

Related Diseases for Ovarian Dysgenesis 1

Diseases in the Ovarian Dysgenesis 1 family:

Ovarian Dysgenesis 2 Ovarian Dysgenesis 3
Ovarian Dysgenesis 4 Ovarian Dysgenesis 5
Ovarian Dysgenesis 6 Ovarian Dysgenesis 7
Ovarian Dysgenesis 8

Diseases related to Ovarian Dysgenesis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 46 xx gonadal dysgenesis 11.7
2 46,xx sex reversal 1 11.7
3 perrault syndrome 11.6
4 perrault syndrome 1 11.6
5 hypergonadotropic ovarian failure, familial or sporadic 11.3
6 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.3
7 46,xx gonadal dysgenesis epibulbar dermoid 11.3
8 ovarian dysgenesis 2 11.3
9 ovarian dysgenesis 3 11.3
10 ovarian dysgenesis 4 11.3
11 ovarian dysgenesis 5 11.3
12 premature ovarian failure 1 10.9
13 ovarian dysgenesis 6 10.9
14 ovarian dysgenesis 7 10.9
15 ovarian dysgenesis 8 10.9
16 amenorrhea 10.5
17 premature menopause 10.3
18 mayer-rokitansky-kuster-hauser syndrome 10.2
19 branchiootic syndrome 1 10.2
20 hypogonadism 10.2
21 gonadal dysgenesis 10.1
22 osteoporosis 10.1
23 cryptorchidism, unilateral or bilateral 10.1
24 spermatogenic failure 1 10.1
25 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 10.1
26 bone mineral density quantitative trait locus 8 10.1
27 46,xy sex reversal 3 10.1
28 bone mineral density quantitative trait locus 15 10.1
29 metabolic acidosis 10.1
30 mumps 10.1
31 hypospadias 10.1
32 disorder of sexual development 10.1
33 penis agenesis 10.1
34 uterine hypoplasia 10.1
35 syndrome with 46,xy disorder of sex development 10.1
36 galactosemia i 10.0
37 graves' disease 10.0

Graphical network of the top 20 diseases related to Ovarian Dysgenesis 1:



Diseases related to Ovarian Dysgenesis 1

Symptoms & Phenotypes for Ovarian Dysgenesis 1

Human phenotypes related to Ovarian Dysgenesis 1:

31
# Description HPO Frequency HPO Source Accession
1 increased circulating gonadotropin level 31 HP:0000837
2 osteoporosis 31 HP:0000939
3 primary amenorrhea 31 HP:0000786
4 gonadal dysgenesis 31 HP:0000133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skel:
osteoporosis

Endo:
elevated gonadotropins

G U:
primary amenorrhea
gonadal dysgenesis
streak gonads

Clinical features from OMIM®:

233300 (Updated 05-Apr-2021)

UMLS symptoms related to Ovarian Dysgenesis 1:


pelvic pain

Drugs & Therapeutics for Ovarian Dysgenesis 1

Drugs for Ovarian Dysgenesis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
3
Progesterone Approved, Vet_approved 57-83-0 5994
4 Contraceptive Agents
5 Hormone Antagonists
6 Estradiol 3-benzoate
7 Hormones
8 Estradiol 17 beta-cypionate
9 Estrogens
10 Progestins
11 Estrogens, Conjugated (USP)

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Transdermal and Oral Estrogens in Adolescents With Ovarian Failure Completed NCT01023178 17beta Estradiol;Conjugated estrogens;17Beta Estradiol - transdermal;Progesterone, micronized

Search NIH Clinical Center for Ovarian Dysgenesis 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Estradiol
Estradiol acetate
estradiol cypionate
ESTRADIOL PWDR
estradiol valerate
Estrogens
Estrogens, Conjugated (USP)
Estrogens, Esterified (USP)
Estrone
estropipate
Ethinyl Estradiol
polyestradiol
polyestradiol phosphate
Sodium estrone sulfate
synthetic conjugated estrogens, A
synthetic conjugated estrogens, B

Genetic Tests for Ovarian Dysgenesis 1

Genetic tests related to Ovarian Dysgenesis 1:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 1 29 FSHR

Anatomical Context for Ovarian Dysgenesis 1

MalaCards organs/tissues related to Ovarian Dysgenesis 1:

40
Ovary

Publications for Ovarian Dysgenesis 1

Articles related to Ovarian Dysgenesis 1:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. 54 6 57
7553856 1995
2
The genetics of XX gonadal dysgenesis. 57 6 61
8178824 1994
3
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance. 6 57
20087398 2010
4
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. 57 6
11889179 2002
5
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. 6 57
9769327 1998
6
Contemporary issues in primary amenorrhea. 57 61
12836721 2003
7
Familial 46,XX gonadal dysgenesis. 61 57
7202756 1981
8
Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data. 61 57
5173165 1971
9
Novel FSHR variants causing female resistant ovary syndrome. 6
31830376 2020
10
Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome. 6
30691934 2019
11
A novel homozygous mutation in the FSHR gene is causative for primary ovarian insufficiency. 6
29157895 2017
12
Database for the mutations of the Finnish disease heritage. 6
11754099 2002
13
The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. 6
9851774 1998
14
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. 6
9020851 1997
15
Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form. 57
8826428 1996
16
Disease gene mapping in isolated human populations: the example of Finland. 57
8230163 1993
17
Familial ovarian dysgenesis in 46,XX females. 57
6779629 1980
18
Pure gonadal dysgenesis and ovarian dysplasia in sisters. 57
5412860 1970
19
Gonadal dysgenesis as an autosomal recessive condition. 57
5794832 1969
20
Gonadal dysgenesis in three sisters. 57
13819997 1959
21
[Turner syndrome in two sisters born of first cousins; pathogenetic considerations]. 57
13340295 1956
22
Misdiagnosis of associated mullerian agenesis in a female with 46, XX gonadal dysgenesis: a case report and review of literature. 61
33054466 2020
23
Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis. 61
31809259 2019
24
Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. 61
29240891 2018
25
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population. 61
28821302 2017
26
A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH). 61
27824615 2016
27
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. 61
28216916 2016
28
"It's Part of Me, Not All of Me": Young Women's Experiences of Receiving a Diagnosis Related to Diverse Sex Development. 61
26639995 2016
29
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. 61
26911863 2016
30
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. 61
26485283 2015
31
Pure gonadal dysgenesis (46 XX type) with a familial pattern. 61
26430655 2015
32
[Genetic aspects of fertility disorders]. 61
24337126 2013
33
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 61
22907560 2012
34
Mutations in NR5A1 associated with ovarian insufficiency. 61
19246354 2009
35
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. 61
17826728 2008
36
A dose-response study of hormone replacement in young hypogonadal women: effects on intima media thickness and metabolism. 61
17371475 2007
37
Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension. 54
16864747 2006
38
[Primary amenorrhea: constitutional delayed puberty or hormonal disturbance]. 61
16875262 2006
39
[XY type gonadal dysgenesis, trisomy X and variants]. 61
14968537 2004
40
No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis. 61
11223847 2001
41
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. 61
11223846 2001
42
Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. 61
10946905 2000
43
Ovarian differentiation and gonadal failure. 61
10727994 1999
44
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. 61
10325262 1999
45
Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea. 61
9696229 1998
46
Experience of Laparoscopic Exploration and Gonadectomy in lntersex Children. 61
18493463 1998
47
[Etiological, clinical and hormonal characteristics of a group of patients with permanent hypogonadism]. 61
9297397 1997
48
Final height of girls with Turner's syndrome: correlation with karyotype and parental height. 61
7633152 1995
49
[XX gonadal dysgenesis]. 61
7757751 1993
50
Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). 61
1518022 1992

Variations for Ovarian Dysgenesis 1

ClinVar genetic disease variations for Ovarian Dysgenesis 1:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FSHR NM_000145.3(FSHR):c.566C>T (p.Ala189Val) SNV Pathogenic 16243 rs121909658 GRCh37: 2:49210264-49210264
GRCh38: 2:48983125-48983125
2 FSHR NM_000145.3(FSHR):c.1717C>T (p.Arg573Cys) SNV Pathogenic 16245 rs121909660 GRCh37: 2:49190243-49190243
GRCh38: 2:48963104-48963104
3 FSHR NM_000145.3(FSHR):c.1255G>A (p.Ala419Thr) SNV Pathogenic 16248 rs121909661 GRCh37: 2:49190705-49190705
GRCh38: 2:48963566-48963566
4 FSHR NM_000145.3(FSHR):c.1555C>A (p.Pro519Thr) SNV Pathogenic 16251 rs121909662 GRCh37: 2:49190405-49190405
GRCh38: 2:48963266-48963266
5 FSHR NM_000145.4(FSHR):c.2086T>G (p.Ter696Glu) SNV Pathogenic 997497 GRCh37: 2:49189874-49189874
GRCh38: 2:48962735-48962735
6 FSHR NM_000145.4(FSHR):c.191del (p.Gly64fs) Deletion Pathogenic 1032213 GRCh37: 2:49295391-49295391
GRCh38: 2:49068252-49068252
7 FSHR NM_000145.3(FSHR):c.1760C>A (p.Pro587His) SNV Pathogenic/Likely pathogenic 29704 rs386833512 GRCh37: 2:49190200-49190200
GRCh38: 2:48963061-48963061
8 FSHR NM_000145.3(FSHR):c.1043C>G (p.Pro348Arg) SNV Likely pathogenic 56030 rs386833510 GRCh37: 2:49190917-49190917
GRCh38: 2:48963778-48963778
9 FSHR NM_000145.3(FSHR):c.1724C>T (p.Ala575Val) SNV Likely pathogenic 56031 rs386833511 GRCh37: 2:49190236-49190236
GRCh38: 2:48963097-48963097
10 FSHR NM_000145.3(FSHR):c.1801C>G (p.Leu601Val) SNV Likely pathogenic 56032 rs386833513 GRCh37: 2:49190159-49190159
GRCh38: 2:48963020-48963020
11 FSHR NM_000145.3(FSHR):c.662T>G (p.Val221Gly) SNV Likely pathogenic 56033 rs386833514 GRCh37: 2:49210057-49210057
GRCh38: 2:48982918-48982918
12 FSHR NM_000145.3(FSHR):c.671A>T (p.Asp224Val) SNV Likely pathogenic 56034 rs386833515 GRCh37: 2:49196020-49196020
GRCh38: 2:48968881-48968881
13 FSHR NM_000145.4(FSHR):c.1384G>C (p.Ala462Pro) SNV Likely pathogenic 996017 GRCh37: 2:49190576-49190576
GRCh38: 2:48963437-48963437
14 FSHR NM_000145.4(FSHR):c.1862C>T (p.Ala621Val) SNV Likely pathogenic 996018 GRCh37: 2:49190098-49190098
GRCh38: 2:48962959-48962959
15 FSHR NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) SNV Uncertain significance 16244 rs121909659 GRCh37: 2:49216161-49216161
GRCh38: 2:48989022-48989022
16 FSHR NM_000145.3(FSHR):c.-58T>C SNV Uncertain significance 336494 rs886056153 GRCh37: 2:49381614-49381614
GRCh38: 2:49154475-49154475
17 FSHR NM_000145.3(FSHR):c.688A>G (p.Ile230Val) SNV Uncertain significance 336486 rs367711694 GRCh37: 2:49196003-49196003
GRCh38: 2:48968864-48968864
18 FSHR NM_000145.3(FSHR):c.685A>G (p.Arg229Gly) SNV Uncertain significance 336487 rs201122960 GRCh37: 2:49196006-49196006
GRCh38: 2:48968867-48968867
19 FSHR NM_000145.3(FSHR):c.24G>T (p.Leu8Phe) SNV Uncertain significance 255348 rs115030945 GRCh37: 2:49381533-49381533
GRCh38: 2:49154394-49154394
20 FSHR NM_000145.3(FSHR):c.786C>T (p.Val262=) SNV Uncertain significance 336485 rs150863050 GRCh37: 2:49195905-49195905
GRCh38: 2:48968766-48968766
21 FSHR NM_000145.3(FSHR):c.1831C>G (p.Leu611Val) SNV Uncertain significance 336479 rs886056149 GRCh37: 2:49190129-49190129
GRCh38: 2:48962990-48962990
22 FSHR NM_000145.3(FSHR):c.485G>A (p.Arg162Lys) SNV Uncertain significance 336489 rs111883853 GRCh37: 2:49216155-49216155
GRCh38: 2:48989016-48989016
23 FSHR NM_000145.3(FSHR):c.1330G>A (p.Ala444Thr) SNV Uncertain significance 336482 rs202162496 GRCh37: 2:49190630-49190630
GRCh38: 2:48963491-48963491
24 FSHR NM_000145.3(FSHR):c.1596G>A (p.Met532Ile) SNV Uncertain significance 336480 rs757909841 GRCh37: 2:49190364-49190364
GRCh38: 2:48963225-48963225
25 FSHR NM_000145.3(FSHR):c.225-11T>C SNV Uncertain significance 336492 rs886056152 GRCh37: 2:49247310-49247310
GRCh38: 2:49020171-49020171
26 FSHR NM_000145.3(FSHR):c.219G>A (p.Glu73=) SNV Uncertain significance 336493 rs377397067 GRCh37: 2:49295363-49295363
GRCh38: 2:49068224-49068224
27 FSHR NM_000145.3(FSHR):c.947A>G (p.Glu316Gly) SNV Uncertain significance 336484 rs886056150 GRCh37: 2:49191013-49191013
GRCh38: 2:48963874-48963874
28 FSHR NM_000145.3(FSHR):c.446+10T>C SNV Uncertain significance 336490 rs200504733 GRCh37: 2:49217695-49217695
GRCh38: 2:48990556-48990556
29 FSHR NM_000145.3(FSHR):c.1576T>C (p.Leu526=) SNV Uncertain significance 336481 rs138281715 GRCh37: 2:49190384-49190384
GRCh38: 2:48963245-48963245
30 FSHR NM_000145.4(FSHR):c.1902C>T (p.Arg634=) SNV Uncertain significance 895792 GRCh37: 2:49190058-49190058
GRCh38: 2:48962919-48962919
31 FSHR NM_000145.4(FSHR):c.926G>T (p.Gly309Val) SNV Uncertain significance 895869 GRCh37: 2:49191034-49191034
GRCh38: 2:48963895-48963895
32 FSHR NM_000145.4(FSHR):c.455A>C (p.Gln152Pro) SNV Uncertain significance 895933 GRCh37: 2:49216185-49216185
GRCh38: 2:48989046-48989046
33 FSHR NM_000145.3(FSHR):c.399G>A (p.Lys133=) SNV Uncertain significance 595880 rs148815172 GRCh37: 2:49217752-49217752
GRCh38: 2:48990613-48990613
34 FSHR NM_000145.4(FSHR):c.351G>A (p.Gln117=) SNV Uncertain significance 895934 GRCh37: 2:49244651-49244651
GRCh38: 2:49017512-49017512
35 FSHR NM_000145.4(FSHR):c.1677C>T (p.Pro559=) SNV Uncertain significance 896078 GRCh37: 2:49190283-49190283
GRCh38: 2:48963144-48963144
36 FSHR NM_000145.4(FSHR):c.1664C>T (p.Thr555Ile) SNV Uncertain significance 896079 GRCh37: 2:49190296-49190296
GRCh38: 2:48963157-48963157
37 FSHR NM_000145.4(FSHR):c.898G>A (p.Glu300Lys) SNV Uncertain significance 896140 GRCh37: 2:49191062-49191062
GRCh38: 2:48963923-48963923
38 FSHR NM_000145.4(FSHR):c.707A>G (p.Tyr236Cys) SNV Uncertain significance 896141 GRCh37: 2:49195984-49195984
GRCh38: 2:48968845-48968845
39 FSHR NM_000145.4(FSHR):c.180C>T (p.Val60=) SNV Uncertain significance 896209 GRCh37: 2:49295402-49295402
GRCh38: 2:49068263-49068263
40 FSHR NM_000145.4(FSHR):c.176G>A (p.Arg59Gln) SNV Uncertain significance 896210 GRCh37: 2:49295406-49295406
GRCh38: 2:49068267-49068267
41 FSHR NM_000145.4(FSHR):c.*574T>C SNV Uncertain significance 897605 GRCh37: 2:49189298-49189298
GRCh38: 2:48962159-48962159
42 FSHR NM_000145.4(FSHR):c.*321A>T SNV Uncertain significance 897606 GRCh37: 2:49189551-49189551
GRCh38: 2:48962412-48962412
43 FSHR NM_000145.4(FSHR):c.1572C>G (p.Ser524Arg) SNV Uncertain significance 757090 rs6167 GRCh37: 2:49190388-49190388
GRCh38: 2:48963249-48963249
44 FSHR NM_000145.4(FSHR):c.1400G>T (p.Arg467Ile) SNV Uncertain significance 897666 GRCh37: 2:49190560-49190560
GRCh38: 2:48963421-48963421
45 FSHR NM_000145.4(FSHR):c.1173A>G (p.Gln391=) SNV Uncertain significance 897667 GRCh37: 2:49190787-49190787
GRCh38: 2:48963648-48963648
46 FSHR NM_000145.4(FSHR):c.645C>T (p.His215=) SNV Uncertain significance 897743 GRCh37: 2:49210074-49210074
GRCh38: 2:48982935-48982935
47 FSHR NM_000145.4(FSHR):c.636T>C (p.Asp212=) SNV Uncertain significance 897744 GRCh37: 2:49210083-49210083
GRCh38: 2:48982944-48982944
48 FSHR NM_000145.4(FSHR):c.135G>A (p.Pro45=) SNV Uncertain significance 897816 GRCh37: 2:49381422-49381422
GRCh38: 2:49154283-49154283
49 FSHR NM_000145.4(FSHR):c.*173G>A SNV Uncertain significance 898763 GRCh37: 2:49189699-49189699
GRCh38: 2:48962560-48962560
50 FSHR NM_000145.4(FSHR):c.1145T>C (p.Ile382Thr) SNV Uncertain significance 898830 GRCh37: 2:49190815-49190815
GRCh38: 2:48963676-48963676

UniProtKB/Swiss-Prot genetic disease variations for Ovarian Dysgenesis 1:

72
# Symbol AA change Variation ID SNP ID
1 FSHR p.Ile160Thr VAR_018045
2 FSHR p.Ala189Val VAR_018046
3 FSHR p.Ala419Thr VAR_018047
4 FSHR p.Arg573Cys VAR_018048
5 FSHR p.Asp224Val VAR_039280
6 FSHR p.Pro348Arg VAR_039281
7 FSHR p.Pro519Thr VAR_039283
8 FSHR p.Leu601Val VAR_039286

Expression for Ovarian Dysgenesis 1

Search GEO for disease gene expression data for Ovarian Dysgenesis 1.

Pathways for Ovarian Dysgenesis 1

GO Terms for Ovarian Dysgenesis 1

Sources for Ovarian Dysgenesis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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