MCID: 46X012
MIFTS: 42

46,xy Partial Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for 46,xy Partial Gonadal Dysgenesis

MalaCards integrated aliases for 46,xy Partial Gonadal Dysgenesis:

Name: 46,xy Partial Gonadal Dysgenesis 58 28 5
46,xy Partial Testicular Dysgenesis 58
46,xy Pgd 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive,Y-linked 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

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


Summaries for 46,xy Partial Gonadal Dysgenesis

Orphanet: 58 A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.

MalaCards based summary: 46,xy Partial Gonadal Dysgenesis, also known as 46,xy partial testicular dysgenesis, is related to hypospadias and mixed gonadal dysgenesis. An important gene associated with 46,xy Partial Gonadal Dysgenesis is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are Nervous system development and Development Endothelin-1/EDNRA transactivation of EGFR. Affiliated tissues include testis, ovary and heart, and related phenotypes are osteoporosis and primary amenorrhea

Related Diseases for 46,xy Partial Gonadal Dysgenesis

Diseases related to 46,xy Partial Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 hypospadias 30.3 WT1 SRY SOX9 NR5A1 GATA4
2 mixed gonadal dysgenesis 30.2 SRY SOX9 NR5A1 NR0B1
3 46,xx sex reversal 1 30.2 SRY SOX9 NR5A1 NR0B1
4 46,xy sex reversal 2 30.0 WT1 SOX9 NR5A1 NR0B1
5 gonadal dysgenesis 29.9 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
6 azoospermia 29.7 WT1 NR5A1 NR0B1 GATA4
7 premature menopause 29.7 WT1 SOX9 NR5A1 NR0B1 DMRT3
8 46,xy sex reversal 28.9 ZFPM2 WT1 SRY SOX9 PROP1 NR5A1
9 disorder of sexual development 28.6 ZFPM2 WT1 SRY SOX9 SOS1 NR5A1
10 cryptorchidism, unilateral or bilateral 28.5 ZFPM2 WT1 SOX9 SOS1 PROP1 OTX2
11 down syndrome 10.8
12 turner syndrome 10.8
13 46,xy sex reversal 7 10.4
14 46,xy sex reversal 3 10.3 NR5A1 GATA4
15 syndrome with 46,xy disorder of sex development 10.3 SRY NR5A1
16 46,xy sex reversal 4 10.2
17 chromosome 9p deletion syndrome 10.2
18 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
19 46,xy sex reversal 1 10.2
20 46,xy gonadal dysgenesis with minifascicular neuropathy 10.2
21 male infertility 10.2
22 polyneuropathy 10.2
23 amenorrhea 10.2
24 endometriosis 10.2
25 neuropathy 10.2
26 learning disability 10.2
27 y chromosome infertility 10.2
28 anorchia 10.2
29 partial deletion of y 10.2
30 46,xy sex reversal 11 10.2 SRY DHX37
31 testicular thecoma 10.2 ZFPM2 GATA4
32 spermatogenic failure 8 10.2 NR5A1 DMRT3
33 combined pituitary hormone deficiencies, genetic forms 10.1 PROP1 OTX2
34 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 NR5A1 NR0B1
35 diaphragmatic eventration 10.1 ZFPM2 GATA4
36 corticosterone methyloxidase type i deficiency 10.1 NR5A1 NR0B1
37 craniopharyngioma 10.1 SOX9 PROP1 NR5A1
38 tricuspid atresia 10.1 ZFPM2 GATA4
39 testicular fibroma 10.1 WT1 NR5A1
40 ovarian sex-cord stromal tumor 10.1 WT1 NR5A1
41 juvenile type testicular granulosa cell tumor 10.1 WT1 NR5A1
42 pituitary hypoplasia 10.1 PROP1 OTX2
43 steroid inherited metabolic disorder 10.1 NR5A1 NR0B1
44 androgen insensitivity, partial 10.0 NR5A1 NR0B1
45 17-beta hydroxysteroid dehydrogenase iii deficiency 10.0 SOX9 NR5A1 NR0B1
46 adrenal cortical hypofunction 10.0 NR5A1 NR0B1
47 complete androgen insensitivity syndrome 10.0 SRY NR5A1 NR0B1
48 androgen insensitivity syndrome 10.0 SRY NR5A1 NR0B1
49 adrenal hypoplasia, congenital 10.0 NR5A1 NR0B1
50 inguinal hernia 10.0 WT1 NR5A1 GATA4

Graphical network of the top 20 diseases related to 46,xy Partial Gonadal Dysgenesis:



Diseases related to 46,xy Partial Gonadal Dysgenesis

Symptoms & Phenotypes for 46,xy Partial Gonadal Dysgenesis

Human phenotypes related to 46,xy Partial Gonadal Dysgenesis:

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000939
2 primary amenorrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000786
3 micropenis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000054
4 azoospermia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000027
5 hypospadias 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000047
6 gynecomastia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000771
7 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008734
8 ambiguous genitalia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000062
9 urogenital sinus anomaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100779
10 hypergonadotropic hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000815
11 gonadal dysgenesis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000133
12 abnormality of the scrotum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000045
13 sparse axillary hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002215
14 sparse pubic hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002225
15 male infertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003251
16 decreased serum estradiol 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008214
17 streak ovary 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010464
18 hypoplasia of the vagina 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008726
19 decreased fertility in females 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000868
20 elevated circulating follicle stimulating hormone level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008232
21 female external genitalia in individual with 46,xy karyotype 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008730
22 elevated circulating luteinizing hormone level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011969
23 abnormal sex determination 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012244
24 vanishing testis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012870
25 clitoral hypertrophy 30 Hallmark (90%) HP:0008665
26 decreased serum testosterone concentration 30 Hallmark (90%) HP:0040171
27 abnormal labia morphology 30 Hallmark (90%) HP:0000058
28 delayed puberty 58 30 Frequent (33%) Frequent (79-30%)
HP:0000823
29 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
30 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
31 adrenal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000846
32 primary gonadal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008193
33 testicular gonadoblastoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000030
34 ovarian gonadoblastoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000149
35 absence of secondary sex characteristics 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008187
36 nephrotic syndrome 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000100
37 nephroblastoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002667
38 abnormality of cardiovascular system morphology 30 Very rare (1%) HP:0030680
39 malformation of the heart and great vessels 58 Very rare (<4-1%)
40 increased circulating gonadotropin level 58 Very frequent (99-80%)
41 gonadoblastoma 58 Frequent (79-30%)
42 hypoplasia of penis 58 Very frequent (99-80%)
43 clitoromegaly 58 Very frequent (99-80%)
44 abnormality of the vagina 58 Very frequent (99-80%)
45 abnormal internal genitalia 58 Very frequent (99-80%)
46 abnormality of the labia 58 Very frequent (99-80%)
47 decreased testosterone in males 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

25 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.98 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.98 NR5A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.98 WWOX DMRT3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.98 DMRT3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.98 DMRT3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.98 WWOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.98 WT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.98 MAP3K1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.98 DMRT3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.98 MAP3K1 NR5A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.98 WWOX WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.98 WT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.98 WWOX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.98 MAP3K1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.98 WWOX
16 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.98 NR5A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.98 NR5A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.98 WWOX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.98 NR5A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.98 DMRT3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.98 WT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.98 MAP3K1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.98 WT1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.98 DMRT3
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.98 NR5A1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.98 WT1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.98 WT1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.98 MAP3K1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.98 WWOX
30 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.98 DMRT3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.98 MAP3K1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 MAP3K1 WT1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.98 WWOX
34 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.98 MAP3K1

MGI Mouse Phenotypes related to 46,xy Partial Gonadal Dysgenesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 GATA4 MAP3K1 NR0B1 NR5A1 OTX2 PROP1
2 nervous system MP:0003631 10.16 DMRT3 GATA4 MAP3K1 NR5A1 OTX2 PROP1
3 endocrine/exocrine gland MP:0005379 10.11 GATA4 NR0B1 NR5A1 OTX2 PROP1 SOS1
4 cellular MP:0005384 10.06 GATA4 MAP3K1 NR0B1 NR5A1 OTX2 SOS1
5 muscle MP:0005369 9.98 GATA4 MAP3K1 OTX2 SOS1 SOX9 WT1
6 cardiovascular system MP:0005385 9.91 GATA4 MAP3K1 NR5A1 OTX2 SOS1 SOX9
7 reproductive system MP:0005389 9.9 DMRT3 GATA4 NR0B1 NR5A1 OTX2 PROP1
8 skeleton MP:0005390 9.56 DMRT3 GATA4 MAP3K1 NR0B1 OTX2 SOS1
9 mortality/aging MP:0010768 9.44 DHX37 DMRT3 GATA4 MAP3K1 NR5A1 OTX2

Drugs & Therapeutics for 46,xy Partial Gonadal Dysgenesis

Search Clinical Trials, NIH Clinical Center for 46,xy Partial Gonadal Dysgenesis

Genetic Tests for 46,xy Partial Gonadal Dysgenesis

Genetic tests related to 46,xy Partial Gonadal Dysgenesis:

# Genetic test Affiliating Genes
1 46,xy Partial Gonadal Dysgenesis 28

Anatomical Context for 46,xy Partial Gonadal Dysgenesis

Organs/tissues related to 46,xy Partial Gonadal Dysgenesis:

MalaCards : Testis, Ovary, Heart

Publications for 46,xy Partial Gonadal Dysgenesis

Articles related to 46,xy Partial Gonadal Dysgenesis:

(show all 32)
# Title Authors PMID Year
1
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance. 62 5
33296094 2021
2
Fertility in Individuals with Differences in Sex Development: Provider Knowledge Assessment. 62
35296452 2022
3
MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis. 62
36013096 2022
4
A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene. 62
33457310 2020
5
[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations]. 62
33351340 2020
6
Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis. 62
30922653 2019
7
Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis. 62
30992672 2019
8
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. 62
29668062 2018
9
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence. 62
27862157 2017
10
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing. 62
28018429 2016
11
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. 62
27463801 2016
12
Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. 62
25580123 2014
13
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. 62
24192396 2013
14
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. 62
23786321 2013
15
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? 62
22644991 2012
16
Dysgerminoma and gonadal dysgenesis: the need for a new diagnosis tree for suspected ovarian tumours. 62
21402494 2011
17
46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk. 62
20153258 2011
18
Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis. 62
21340164 2010
19
[Sex of rearing in 46,XY partial gonadal dysgenesis (case report)]. 62
20097326 2010
20
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. 62
17694559 2008
21
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. 62
17644778 2007
22
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 62
15356051 2004
23
Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis. 62
12975780 2003
24
Management of 46, XY partial gonadal dysgenesis--revisited. 62
12422582 2002
25
Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. 62
11990454 2002
26
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 62
11017805 2000
27
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. 62
9718353 1998
28
Abnormalities of gonadal differentiation. 62
9890065 1998
29
Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. 62
8954063 1996
30
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. 62
8710915 1996
31
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. 62
8496317 1993
32
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. 62
1956279 1991

Variations for 46,xy Partial Gonadal Dysgenesis

ClinVar genetic disease variations for 46,xy Partial Gonadal Dysgenesis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR5A1 NM_004959.5(NR5A1):c.991-1G>C SNV Pathogenic
1691445 GRCh37: 9:127253508-127253508
GRCh38: 9:124491229-124491229
2 PROP1 NM_006261.5(PROP1):c.301_302del (p.Leu102fs) MICROSAT Pathogenic
8098 rs193922688 GRCh37: 5:177421147-177421148
GRCh38: 5:177994146-177994147
3 SOS1 NM_005633.4(SOS1):c.406T>C (p.Tyr136His) SNV Likely Pathogenic
1691446 GRCh37: 2:39283947-39283947
GRCh38: 2:39056806-39056806
4 OTX2 NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) SNV Likely Pathogenic
803030 rs199761861 GRCh37: 14:57268922-57268922
GRCh38: 14:56802204-56802204

Expression for 46,xy Partial Gonadal Dysgenesis

Search GEO for disease gene expression data for 46,xy Partial Gonadal Dysgenesis.

Pathways for 46,xy Partial Gonadal Dysgenesis

Pathways related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 ZFPM2 WT1 SRY SOX9 SOS1 NR5A1
2
Show member pathways
11.72 SOS1 MAP3K1 GATA4
3 11.58 WT1 SOX9 OTX2 GATA4
4
Show member pathways
10.79 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
5 10.34 SRY SOX9 MAP3K1

GO Terms for 46,xy Partial Gonadal Dysgenesis

Cellular components related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.58 ZFPM2 SRY SOX9 PROP1 OTX2 NR5A1

Biological processes related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.4 ZFPM2 WT1 SOX9 SOS1 PROP1 OTX2
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.37 ZFPM2 WT1 SRY SOX9 PROP1 NR0B1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.36 ZFPM2 WWOX WT1 SRY SOX9 PROP1
4 positive regulation of DNA-templated transcription GO:0045893 10.26 ZFPM2 WT1 SRY SOX9 OTX2 NR5A1
5 regulation of DNA-templated transcription GO:0006355 10.2 DMRT3 GATA4 NR5A1 OTX2 PROP1 SOX9
6 heart development GO:0007507 10.11 ZFPM2 WT1 SOX9 GATA4
7 male gonad development GO:0008584 9.96 WT1 SOX9 NR5A1 NR0B1 GATA4
8 tissue development GO:0009888 9.91 GATA4 NR5A1 WT1
9 adrenal gland development GO:0030325 9.91 WT1 NR5A1 NR0B1
10 gonad development GO:0008406 9.88 WT1 NR0B1
11 Leydig cell differentiation GO:0033327 9.86 NR5A1 NR0B1
12 Sertoli cell differentiation GO:0060008 9.85 SOX9 NR5A1 NR0B1
13 intestinal epithelial cell differentiation GO:0060575 9.84 SOX9 GATA4
14 sex determination GO:0007530 9.72 NR0B1 NR5A1 WT1
15 negative regulation of female gonad development GO:2000195 9.63 ZFPM2 WT1 NR5A1
16 system development GO:0048731 9.55 ZFPM2 GATA4
17 male sex determination GO:0030238 9.5 SRY SOX9 NR5A1 NR0B1
18 positive regulation of male gonad development GO:2000020 9.4 ZFPM2 WT1 SRY SOX9 NR5A1 DHX37

Molecular functions related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.1 WT1 SOX9 PROP1 OTX2 GATA4
2 sequence-specific double-stranded DNA binding GO:1990837 10.1 DMRT3 GATA4 NR5A1 OTX2 PROP1 SOX9
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.06 DMRT3 GATA4 NR5A1 OTX2 PROP1 SOX9
4 sequence-specific DNA binding GO:0043565 10.02 WT1 SOX9 NR5A1 GATA4 DMRT3
5 DNA-binding transcription factor activity GO:0003700 9.91 WT1 SRY SOX9 OTX2 NR5A1 GATA4
6 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 9.86 WT1 SRY SOX9 PROP1 OTX2 NR5A1
7 DNA binding GO:0003677 9.47 ZFPM2 WT1 SRY SOX9 SOS1 PROP1

Sources for 46,xy Partial Gonadal Dysgenesis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....