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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:gonadal disease
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Accession:DOID:2277 term browser browse the term
Definition:An endocrine system disease that is located_in the gonads. (DO)
Synonyms:exact_synonym: gonadal disorder;   gonadal disorders
 primary_id: MESH:D006058
 xref: MIM:PS176400;   NCI:C26786
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
gonadal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho ISO RGD PMID:9363890 RGD:10403047 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor susceptibility ISO DNA:transition: ; 1192T>C, precocious puberty, OMIM:176410 RGD PMID:8929952 RGD:1600291 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial ClinVar PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
17-beta hydroxysteroid dehydrogenase 3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO
ISS
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
OMIM:264300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 2
OMIM
CTD
ClinVar
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISS OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
JBrowse link
G Fshr follicle stimulating hormone receptor ISO DNA:point mutation:exon:A189V
ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:7553856 RGD:1601232 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
46, XX Disorders of Sex Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: 46,XX disorder of sex development ClinVar NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142
JBrowse link
46, XY Disorders of Sex Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism ClinVar PMID:25741868 NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY disorder of sex development
CTD
ClinVar
PMID:7719343 PMID:19887492 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: DSD incomplete virilization ClinVar PMID:20359920 PMID:25741868 PMID:28492532 PMID:34979047 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY disorder of sex development
CTD
ClinVar
PMID:17694559 PMID:20887963 PMID:25741868 PMID:25989977 PMID:26260161 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818
JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:28492532 NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
JBrowse link
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:8353496 PMID:25741868 PMID:29378242 NCBI chr  Y:441,525...442,037 JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XX sex reversal 1 OMIM
ClinVar
PMID:25741868 NCBI chr  Y:441,525...442,037 JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar
OMIM
PMID:21208124 PMID:22051515 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
46,XX sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: 46,XX sex reversal 4 OMIM
ClinVar
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
46,XX sex reversal 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: 46,xx sex reversal 5 OMIM
ClinVar
PMID:25741868 PMID:27363585 PMID:29478779 NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: SERKAL syndrome OMIM
ClinVar
PMID:18179883 PMID:25741868 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
OMIM
CTD
ClinVar
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 More... NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
JBrowse link
46,XY sex reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 PMID:33189935 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Dhh desert hedgehog signaling molecule susceptibility ISO
ISS
DNA:missense mutation:exon
OMIM:154230 | OMIM:233420 | OMIM:300018 | OMIM:400044 | OMIM:607080 | OMIM:612965 | OMIM:613080 | OMIM:613762 | OMIM:614279 | OMIM:616067
ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD
MouseDO
ClinVar
RGD
PMID:11017805 RGD:1601053 NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247 PMID:11932325 PMID:15070943 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Sry sex determining region Y ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27576690 PMID:2247151 PMID:8257986 RGD:1599179, RGD:1598780 NCBI chr  Y:441,525...442,037 JBrowse link
46,XY sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XY sex reversal 1 OMIM
ClinVar
PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 More... NCBI chr  Y:441,525...442,037 JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar
OMIM
PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
46,XY sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 More... NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
JBrowse link
46,XY sex reversal 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED OMIM
ClinVar
PMID:9536098 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
JBrowse link
46,XY sex reversal 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY sex reversal 5
OMIM
CTD
ClinVar
PMID:19361780 PMID:25741868 NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
JBrowse link
46,XY sex reversal 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6 OMIM
ClinVar
PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 More... NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
JBrowse link
46,XY sex reversal 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
OMIM
CTD
ClinVar
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
JBrowse link
46,XY sex reversal 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 8
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4352099 PMID:21802064 PMID:25741868 PMID:28106320 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
JBrowse link
46,XY sex reversal 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9 OMIM
ClinVar
PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
46,Xy True Hermaphroditism, Sry-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related ClinVar PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 More... NCBI chr  Y:441,525...442,037 JBrowse link
acromesomelic dysplasia-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
JBrowse link
Adrenal Hyperplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 More... NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome OMIM
ClinVar
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
JBrowse link
Alopecia, Hypogonadism, Extrapyramidal Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:6876115 PMID:19026396 PMID:20507343 PMID:21964978 PMID:24015686 More... NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
JBrowse link
G Mettl8 methyltransferase 8, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:28492532 NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676
JBrowse link
androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor susceptibility ISO
ISS
IEP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
OMIM:300068
DNA:missense mutation:exon:p.M749V (human)
DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human)
DNA:missense mutation:exon:p.R615S (human)
DNA:point mutation, repeats:exon
DNA:deletion
protein:altered localization:spinal cord, motor neuron, cytoplasm
CTD
OMIM
ClinVar
MouseDO
RGD
PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 More... RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency ClinVar PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833
JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
JBrowse link
Androgen Insensitivity Syndrome due to Coactivator Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
Anorchia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC OMIM
ClinVar
PMID:25741868 PMID:26539891 PMID:28492532 PMID:31287541 PMID:31337883 More... NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
JBrowse link
anovulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628394 NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Gynecomastia, familial ClinVar PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 More... NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO
ISS
OMIM:139300
ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: Familial gynecomastia, due to increased aromatase activity | ClinVar Annotator: match by term: Pseudohermaphroditism, female, due to placental aromatase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Aromatase deficiency ClinVar PMID:25741868 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
JBrowse link
atrophy of testis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l2 Bcl2-like 2 ISO RGD PMID:9500547 RGD:734642 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
JBrowse link
G Brca2 BRCA2, DNA repair associated IMP RGD PMID:12754522 RGD:727990 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:12754522 RGD:727990
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
JBrowse link
BDV Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpe carboxypeptidase E ISO ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME | ClinVar Annotator: match by term: CPE-related condition
DNA:missense mutations:CDS:exon 2, c.361C>T p.Arg121|exon 6 c994del p.Ser333Alafx*22
OMIM
ClinVar
RGD
PMID:25741868 PMID:26120850 PMID:28492532 PMID:34383079 PMID:35562395 More... RGD:405650667 NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
CTD
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO
ISS
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders
OMIM:301900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 PMID:18313024 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal ClinVar PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 More... NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
central precocious puberty term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlk1 delta like non-canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Central precocious puberty ClinVar NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
JBrowse link
central precocious puberty 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Central precocious puberty 1 OMIM
ClinVar
PMID:17164310 PMID:18272894 PMID:23349759 PMID:25741868 PMID:26467025 More... NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
central precocious puberty 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkrn3 makorin, ring finger protein, 3 ISO
ISS
ClinVar Annotator: match by term: MKRN3-related condition | ClinVar Annotator: match by term: Precocious puberty, central, 2
OMIM:615346
OMIM
ClinVar
MouseDO
PMID:23738509 PMID:25741868 PMID:26431553 PMID:28492532 PMID:28672280 NCBI chr 1:115,926,774...115,929,288
Ensembl chr 1:115,926,776...115,929,283
JBrowse link
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hhat hedgehog acyltransferase ISO
ISS
OMIM:600092
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia
OMIM
MouseDO
ClinVar
PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 NCBI chr13:104,024,507...104,283,580
Ensembl chr13:104,010,916...104,282,893
JBrowse link
complete androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Complete androgen insensitivity syndrome ClinVar PMID:25741868 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
congenital adrenal hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1a arginine vasopressin receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO 11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human)
DNA:frameshift mutation:cds:p.394fsX469 (human)
RGD PMID:8964882 PMID:1430088 RGD:1600799, RGD:734864 NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:3295546 PMID:8506298 PMID:8964882 PMID:9302260 PMID:9536098 More... NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 More... RGD:4889141 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human) RGD PMID:12930931 RGD:4889127 NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD
ClinVar
PMID:1825279 PMID:7626445 PMID:7633460 PMID:7651769 PMID:7962268 More... NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
JBrowse link
G Por cytochrome p450 oxidoreductase ISO DNA:missense mutations:cds:p.A287P, p.H628P (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 More... RGD:4889128 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Ren renin ISO protein:increased expression:blood serum (human) RGD PMID:31505456 RGD:125097501 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Star steroidogenic acute regulatory protein susceptibility ISO
ISS
DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar
MouseDO
RGD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More... RGD:1600070, RGD:4145592 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 More...
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 More... NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: P450c11b1 deficiency ClinVar PMID:11549691 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25741868 PMID:26300845 PMID:28492532 PMID:30233493 PMID:30299480 More... NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: CYP21 deficiency ClinVar PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25741868 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 More...
Congenital Adrenal Hyperplasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1515452 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 More... NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
cortisone reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12858176 RGD:1625067 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 OMIM
ClinVar
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO
ISS
OMIM:614662
ClinVar Annotator: match by term: Cortisone reductase deficiency 2
OMIM
MouseDO
ClinVar
PMID:21325058 PMID:25741868 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
cryptorchidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:32037220 PMID:24983376 RGD:38548917, RGD:13434925 NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 PMID:32037220 RGD:13434925, RGD:38548917
G Anxa5 annexin A5 IEP protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Ar androgen receptor ISO DNA:repeats:exon RGD PMID:15472213 PMID:15757859 RGD:1578685, RGD:11576231 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: undescended testicle
CTD
ClinVar
PMID:7697714 PMID:19291773 PMID:24690944 PMID:25741868 PMID:28371217 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
G Casp3 caspase 3 ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26050606 PMID:29606031 RGD:13792609 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
JBrowse link
G Esr1 estrogen receptor 1 IEP mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:29606031 RGD:13792609 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Gfer growth factor, augmenter of liver regeneration IEP protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Hsf1 heat shock transcription factor 1 IEP protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Htra2 HtrA serine peptidase 2 IEP RGD PMID:16563141 RGD:10402928 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Insl3 insulin-like 3 ISO
ISS
idiopathic cryptorchidism, OMIM:219050
ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
OMIM
RGD
PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:14687758 More... RGD:1600162 NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Kdm5a lysine demethylase 5A IEP mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:15598687 PMID:25741868 PMID:28492532 PMID:29452377 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:31010896 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
JBrowse link
G Msx1 msh homeobox 1 IEP RGD PMID:18222913 RGD:5132606 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Ngf nerve growth factor IEP mRNA,protein:decreased expression:testis RGD PMID:22490502 RGD:402463952 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO bilateral cryptorchidism, OMIM:219050
ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism
ClinVar
RGD
PMID:12217959 PMID:12970298 PMID:20636340 PMID:25741868 PMID:12217959 RGD:1600187 NCBI chr12:4,924,747...4,986,672
Ensembl chr12:4,925,722...4,986,596
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:28067909 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: undescended testicle ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678
JBrowse link
G Sts steroid sulfatase IEP protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 IAGP DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle ClinVar PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: undescended testicle ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:18954413 PMID:24860126 PMID:25741868 PMID:28492532 PMID:30744660 More... NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:20301500 PMID:22279524 PMID:23035047 PMID:27480663 More... NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO
ISS
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: D-bifunctional protein deficiency | ClinVar Annotator: match by term: DBP deficiency
OMIM:261515
DNA:mutations:multiple (human)
ClinVar
MouseDO
OMIM
RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD
OMIM
ClinVar
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
Delayed Puberty term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25462787 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:20002962 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:12627230 PMID:16606836 PMID:17200176 PMID:25636053 PMID:25741868 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14762184 PMID:17726072 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21527035 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
JBrowse link
G Kiss1r KISS1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21527035 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17229951 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15602022 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 PMID:28492532 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 PMID:28492532 PMID:29419413 NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:25636053 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Delayed puberty ClinVar PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 More... NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
Denys-Drash syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO protein:decreased expression:sertoli cell RGD PMID:16245160 RGD:1643343 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542
JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
JBrowse link
G Wt1 WT1 transcription factor ISO
ISS
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor
OMIM:194080
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... RGD:1580624 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy OMIM
ClinVar
PMID:2007407 PMID:2270059 PMID:2733290 PMID:4684700 PMID:9500556 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
disorder of sexual development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25304492 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
JBrowse link
G Amh anti-Mullerian hormone susceptibility ISO Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon RGD PMID:1483695 RGD:1601180 NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar
RGD
PMID:9641679 RGD:9586734 NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
JBrowse link
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 PMID:30675029 PMID:34858435 PMID:36110220 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:17071532 PMID:8075637 RGD:1599964 NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22615892 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Ambiguous genitalia ClinVar PMID:24076603 PMID:25741868 PMID:26365340 PMID:27195816 PMID:28492532 More... NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250
JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 PMID:31513305 PMID:31852928 PMID:35432193 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr12:4,924,747...4,986,672
Ensembl chr12:4,925,722...4,986,596
JBrowse link
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:16199547 PMID:25741868 PMID:27666369 PMID:28492532 PMID:33652732 More... NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Disorder of sexual differentiation ClinVar NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
JBrowse link
dysgerminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:ovary RGD PMID:17988723 RGD:2315651 NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Acrocephalosyndactylia (MeSH:D000168) RGD PMID:17243131 RGD:2289660 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Inha inhibin subunit alpha ISO RGD PMID:11720904 RGD:2290380 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar
RGD
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... RGD:2292181 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
JBrowse link
G Set Set nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
Experimental Autoimmune Orchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:testis (rat) RGD PMID:14638441 RGD:1358455 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 IDA RGD PMID:16092147 RGD:1624236 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:16092147 RGD:1624236 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Inha inhibin subunit alpha IEP protein:decreased expression:serum: RGD PMID:11431143 RGD:8694089 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
G Serpina1 serpin family A member 1 IEP protein:increased expression:serum RGD PMID:16092147 RGD:1624236 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
familial male-limited precocious puberty term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inha inhibin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16684832 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
G Inhbb inhibin subunit beta B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16684832 NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Familial precocious puberty ClinVar PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
familiar ovarian carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial ovarian carcinoma ClinVar PMID:25741868 PMID:33832919 NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
JBrowse link
Frasier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Frasier syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2 ClinVar
OMIM
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 no_association ISO RGD PMID:23219007 RGD:9586730 NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
JBrowse link
G Dmrt2 doublesex and mab-3 related transcription factor 2 ISO ClinVar Annotator: match by term: Gonadal agenesis ClinVar PMID:25741868 NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:10022448 PMID:22414334 PMID:28492532 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 treatment IMP RGD PMID:16467257 RGD:12904919 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Tspyl1 TSPY-like 1 ISO sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:25741868 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome ClinVar PMID:25741868 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Rnf216 ring finger protein 216 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome
OMIM
CTD
ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
JBrowse link
granulosa cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone disease_progression ISO RGD PMID:19359032 RGD:2315639 NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Cmklr1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr12:42,974,462...43,027,321
Ensembl chr12:42,974,410...43,028,129
JBrowse link
G Ctnnb1 catenin beta 1 ISO
ISS
MouseDO
RGD
PMID:16488995 RGD:1643593 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Fancf FA complementation group F disease_progression
susceptibility
ISO DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:2298508, RGD:11049141 NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
JBrowse link
G Fshr follicle stimulating hormone receptor ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO RGD PMID:15967102 PMID:11994539 RGD:2302176, RGD:2289157 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:48,563,659...48,653,933
Ensembl chr 6:48,563,662...48,653,933
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:11994539 RGD:2289157 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rarres2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO RGD PMID:11994539 RGD:2289157 NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
JBrowse link
G Smad5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr17:7,862,332...7,891,678
Ensembl chr17:7,864,720...7,891,634
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360
JBrowse link
Granulosa Cell Tumor of the Ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor of the ovary ClinVar PMID:2116665 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
gynecomastia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7878608 PMID:9334596 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
hereditary breast ovarian cancer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1cf APOBEC1 complementation factor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:229,736,037...229,823,499
Ensembl chr 1:229,736,106...229,824,354
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Abi3 ABI family, member 3 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:80,769,819...80,780,816
Ensembl chr10:80,769,822...80,780,816
JBrowse link
G Abraxas1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr14:8,796,281...8,810,625
Ensembl chr14:8,796,266...8,810,622
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
JBrowse link
G Acbd4 acyl-CoA binding domain containing 4 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:88,048,058...88,062,612
Ensembl chr10:88,048,108...88,058,500
JBrowse link
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673
JBrowse link
G Adam11 ADAM metallopeptidase domain 11 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:87,724,115...87,742,773
Ensembl chr10:87,724,234...87,741,562
JBrowse link
G Aim2 absent in melanoma 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:73,621,021...73,654,123
Ensembl chr10:73,621,883...73,653,896
JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
JBrowse link
G Ankfn1 ankyrin-repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:74,214,143...74,602,825
Ensembl chr10:74,218,915...74,663,295
JBrowse link
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719
JBrowse link
G Ankrd40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:79,282,075...79,295,322
Ensembl chr10:79,282,075...79,295,320
Ensembl chr10:79,282,075...79,295,320
JBrowse link
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Arf2 ADP-ribosylation factor 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:88,867,836...88,889,654
Ensembl chr10:88,867,836...88,889,659
JBrowse link
G Arhgap27 Rho GTPase activating protein 27 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:88,280,470...88,313,225
Ensembl chr10:88,280,455...88,313,185
JBrowse link
G Arl4d ARF like GTPase 4D ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859 NCBI chr10:86,592,054...86,602,843
Ensembl chr10:86,595,661...86,602,836
JBrowse link
G Asb16 ankyrin repeat and SOCS box-containing 16 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:87,225,976...87,233,078
Ensembl chr10:87,225,912...87,233,078
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar PMID:100011 PMID:581456 PMID:988733 PMID:1160401 PMID:1739330 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atp5mc1 ATP synthase membrane subunit c locus 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:81,024,056...81,026,780
Ensembl chr10:81,023,925...81,027,124
Ensembl chr10:81,023,925...81,027,124
JBrowse link
G Atxn7l3 ataxin 7-like 3 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:87,242,843...87,250,186
Ensembl chr10:87,243,587...87,250,620
JBrowse link
G B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:38922859 NCBI chr10:80,801,594...80,828,005
Ensembl chr10:80,802,941...80,857,700
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar PMID:1584056 PMID:2936742 PMID:9425226 PMID:9536098 PMID:11807980 More... NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
JBrowse link
G Bcar1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr19:39,679,215...39,713,907
Ensembl chr19:39,679,204...39,713,907
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer ClinVar PMID:25741868 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479
JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar PMID:7585968 PMID:9536098 PMID:16199547 PMID:17407155 PMID:17576681 More... NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 More... NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
CTD
ClinVar
OMIM
PMID:20 PMID:122156 PMID:125827 PMID:145597 PMID:202008