Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 dysgenesis
go back to main search page
Accession:DOID:14447 term browser browse the term
Definition:A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. (DO)
Synonyms:exact_synonym: gonadal agenesis;   gonadal dysgenesis syndrome
 primary_id: MESH:D006059
 alt_id: MIM:600171
 xref: GARD:2538;   ICD9CM:758.6;   NCI:C61420
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBX2 chromobox 2 no_association IAGP RGD PMID:23219007 RGD:9586730 NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983 		JBrowse link
G DMRT2 doublesex and mab-3 related transcription factor 2 IAGP ClinVar Annotator: match by term: Gonadal agenesis ClinVar PMID:25741868 NCBI chr 9:1,050,357...1,057,552
Ensembl chr 9:1,049,858...1,057,552 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:10022448 PMID:22414334 PMID:28492532 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 treatment ISO RGD PMID:16467257 RGD:12904919 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G TSPYL1 TSPY like 1 IAGP sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:25741868 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		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 chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP 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 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		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 IAGP ClinVar Annotator: match by term: 46,XX sex reversal 1 ClinVar
OMIM		 PMID:25741868 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		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 IAGP ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar
OMIM		 PMID:21208124 PMID:22051515 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		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 IAGP 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 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		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 IAGP ClinVar Annotator: match by term: 46,xx sex reversal 5 OMIM
ClinVar		 PMID:25741868 PMID:27363585 PMID:29478779 NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263 		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 IAGP ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G WNT4 Wnt family member 4 IAGP ClinVar Annotator: match by term: SERKAL syndrome
ClinVar Annotator: match by term: WNT4-related condition
ClinVar Annotator: match by term: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS | ClinVar Annotator: match by term: SERKAL syndrome		 ClinVar
OMIM		 PMID:18179883 PMID:25741868 PMID:28492532 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		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 IAGP
EXP		 ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 More... NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		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 IAGP ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 PMID:33189935 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G DHH desert hedgehog signaling molecule susceptibility IAGP
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 chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 IAGP ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10369247 PMID:11932325 PMID:15070943 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G SRY sex determining region Y IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27576690 PMID:2247151 PMID:8257986 RGD:1599179, RGD:1598780 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
46,XY sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC108178989 SRY promoter region IAGP ClinVar Annotator: match by term: 46,XY sex reversal 1 ClinVar PMID:28492532 NCBI chr  Y:2,787,604...2,792,604 JBrowse link
G SRY sex determining region Y IAGP ClinVar Annotator: match by term: 46,XY sex reversal 1 ClinVar
OMIM		 PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 More... NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC108004545 SOX9 testis enhancer F8 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:6620326 PMID:25604083 NCBI chr17:71,492,376...71,495,237 JBrowse link
G LOC131477896 eSR-A sex determination enhancer IAGP ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:6620326 PMID:25604083 NCBI chr17:71,482,459...71,487,056 JBrowse link
G REVSEX reversal of sex (RevSex) determining region IAGP ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:6620326 PMID:25604083 NCBI chr17:71,537,506...71,563,376 JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar
OMIM		 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		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 IAGP
EXP		 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		 ClinVar
CTD
OMIM		 PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 More... NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		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 IAGP 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 chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 3
ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
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 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
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 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
ClinVar Annotator: match by term: 46,XY sex reversal 3		 ClinVar PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 More... NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524 		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 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090 		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 IAGP
EXP		 ClinVar Annotator: match by term: 46,XY sex reversal 5
ClinVar Annotator: match by term: CBX2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19361780 PMID:25741868 PMID:28492532 NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983 		JBrowse link
46,XY sex reversal 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126807392 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:56178189-56179388 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 6
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:56,882,362...56,883,561 JBrowse link
G LOC129993918 ATAC-STARR-seq lymphoblastoid silent region 16021 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 6 ClinVar PMID:24135036 PMID:25741868 PMID:28492532 PMID:30608580 NCBI chr 5:56,815,267...56,816,036 JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 6
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED		 ClinVar
OMIM		 PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 More... NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		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 IAGP
EXP		 ClinVar Annotator: match by term: 46,XY sex reversal 7
ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801 		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 IAGP
EXP		 ClinVar Annotator: match by term: 46,XY sex reversal 8
ClinVar Annotator: match by term: AKR1C2-related condition
ClinVar Annotator: match by term: 46,XY sex reversal 8 | ClinVar Annotator: match by term: AKR1C2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:4352099 PMID:21802064 PMID:25741868 PMID:28106320 NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031 		JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 IAGP
EXP		 ClinVar Annotator: match by term: 46,XY sex reversal 8
ClinVar Annotator: match by term: MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
ClinVar Annotator: match by term: AKR1C4-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:4352099 PMID:21802064 PMID:25741868 PMID:28492532 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949 		JBrowse link
G LOC101928051 uncharacterized LOC101928051 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 8 | ClinVar Annotator: match by term: AKR1C2-related condition ClinVar PMID:21802064 NCBI chr10:4,995,578...4,997,777 JBrowse link
46,XY sex reversal 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126860469 BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 IAGP ClinVar Annotator: match by term: 46,XY sex reversal 9
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9		 ClinVar PMID:24033266 PMID:24702427 PMID:25107291 PMID:25741868 PMID:28166811 More... NCBI chr 8:105,802,217...105,803,416 JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9		 ClinVar
OMIM		 PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 More... NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9		 ClinVar PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 More... NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524 		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 IAGP 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:30582406 PMID:31287541 More... NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		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 member 1 IAGP
EXP		 ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | ClinVar Annotator: match by term: P450scc DEFICIENCY
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
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16199547 More... NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G LOC108964933 CYP11A1 promoter region IAGP ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete ClinVar NCBI chr15:74,367,596...74,369,998 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 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ClinVar Annotator: match by term: NAJJAR SYNDROME
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy		 OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2733290 PMID:4684700 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ClinVar Annotator: match by term: NAJJAR SYNDROME		 ClinVar PMID:262236 PMID:11503164 PMID:12629077 PMID:12927431 PMID:14615128 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ClinVar PMID:12920062 PMID:13129702 PMID:14985400 PMID:15539782 PMID:18414213 More... NCBI chr 1:156,114,934...156,115,023 JBrowse link
Meacham Winn Culler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Meacham syndrome
ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome		 ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:18559874 PMID:18591546 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G WT1 WT1 transcription factor IAGP
EXP		 ClinVar Annotator: match by term: Meacham syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meacham Winn Culler syndrome
ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome		 OMIM
ClinVar
CTD		 PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM177A1 family with sequence similarity 177 member A1 IAGP ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy ClinVar PMID:8849014 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 NCBI chr14:35,081,081...35,113,130
Ensembl chr14:35,044,907...35,113,130 		JBrowse link
G LOC126861916 MED14-independent group 3 enhancer GRCh37_chr14:35590400-35591599 IAGP ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chr14:35,121,194...35,122,532 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations ClinVar PMID:15930273 PMID:17376864 PMID:18074223 PMID:22120714 PMID:22658544 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME		 ClinVar
OMIM		 PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 More... NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRORP-PSMA6 PRORP-PSMA6 readthrough IAGP ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chr14:35,121,839...35,317,471 JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations ClinVar PMID:25741868 PMID:34161696 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
ovarian dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FSHR follicle stimulating hormone receptor IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 1
ClinVar Annotator: match by term: FSHR-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 1		 ClinVar
OMIM		 PMID:7553856 PMID:8855829 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
ovarian dysgenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 10 OMIM
ClinVar		 PMID:25741868 PMID:32719396 PMID:33713115 PMID:34402903 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Ovarian Dysgenesis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HROB homologous recombination factor with OB-fold IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 11 OMIM
ClinVar		 PMID:34707299 PMID:38105698 NCBI chr17:44,141,930...44,162,476
Ensembl chr17:44,141,906...44,162,476 		JBrowse link
ovarian dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP15 bone morphogenetic protein 15 IAGP
EXP		 ClinVar Annotator: match by term: Ovarian dysgenesis 2
ClinVar Annotator: match by term: Premature ovarian failure 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 More... NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
ovarian dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLX MAX dimerization protein MLX IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G NRXN1 neurexin 1 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:28492532 NCBI chr 2:49,918,503...51,032,132
Ensembl chr 2:49,918,503...51,225,575 		JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 3 | ClinVar Annotator: match by term: PSMC3IP-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831 		JBrowse link
ovarian dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCM9 minichromosome maintenance 9 homologous recombination repair factor IAGP ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4
ClinVar Annotator: match by term: MCM9-related condition		 ClinVar
OMIM		 PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162 		JBrowse link
ovarian dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 5 ClinVar
OMIM		 PMID:17301727 PMID:20506135 PMID:25741868 PMID:25774885 PMID:28492532 More... NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
ovarian dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP107 nucleoporin 107 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 6 ClinVar
OMIM		 PMID:25741868 PMID:26485283 PMID:28492532 PMID:34707299 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
ovarian dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS22 mitochondrial ribosomal protein S22 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
ovarian dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR2 estrogen receptor 2 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 8
ClinVar Annotator: match by term: ESR2-related condition
ClinVar Annotator: match by term: ESR2-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 8		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:30113650 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
ovarian dysgenesis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPIDR scaffold protein involved in DNA repair IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 9 OMIM
ClinVar		 PMID:25741868 PMID:27967308 PMID:34697795 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306 		JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 IAGP ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892 		JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 IAGP
EXP		 ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
ClinVar Annotator: match by term: RSPO1-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892 		JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISS
IAGP		 OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome		 MouseDO
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		JBrowse link
G LOC126862526 BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr17:28,858,093...28,859,292 JBrowse link
G LOC129994460 ATAC-STARR-seq lymphoblastoid active region 22989 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... NCBI chr 5:119,452,598...119,452,647 JBrowse link
G LOC130063288 ATAC-STARR-seq lymphoblastoid silent region 9948 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541340 PMID:24824130 NCBI chr19:6,361,778...6,362,007 JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242 		JBrowse link
G DAP3 death associated protein 3 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,687,948...155,739,010
Ensembl chr 1:155,687,960...155,739,010 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GON4L gon-4 like IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,745,112...155,859,431
Ensembl chr 1:155,749,659...155,859,400 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP
EXP		 ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: Perrault syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G LOC129931572 ATAC-STARR-seq lymphoblastoid active region 1818 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,689,190...155,689,239 JBrowse link
G LOC129931573 ATAC-STARR-seq lymphoblastoid active region 1819 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,745,310...155,745,509 JBrowse link
G LOC129994460 ATAC-STARR-seq lymphoblastoid active region 22989 IAGP ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar Annotator: match by term: HSD17B4-related condition		 ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... NCBI chr 5:119,452,598...119,452,647 JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr11:65,122,183...65,127,371
Ensembl chr11:65,122,183...65,127,371 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRORP-PSMA6 PRORP-PSMA6 readthrough IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr14:35,121,839...35,317,471 JBrowse link
G SCARNA26A small Cajal body-specific RNA 26A IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,679,108...155,679,255 JBrowse link
G YY1AP1 YY1 associated protein 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,446...155,689,334 		JBrowse link
Perrault Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome 2
ClinVar Annotator: match by term: HARS2-related condition
ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2		 ClinVar
OMIM		 PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP ClinVar Annotator: match by term: Perrault syndrome 3
ClinVar Annotator: match by term: CLPP-related condition		 ClinVar
OMIM		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:23851121 More... NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242 		JBrowse link
G LOC130063288 ATAC-STARR-seq lymphoblastoid silent region 9948 IAGP ClinVar Annotator: match by term: Perrault syndrome 3
ClinVar Annotator: match by term: CLPP-related condition		 ClinVar PMID:23541340 PMID:24824130 PMID:25741868 PMID:28492532 NCBI chr19:6,361,778...6,362,007 JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome 4 ClinVar
OMIM		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 4 ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		JBrowse link
Perrault Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:18593709 PMID:25355836 PMID:25741868 PMID:26467025 PMID:27551684 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 6 ClinVar
OMIM		 PMID:25741868 PMID:28449065 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G LOC126862526 BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 IAGP ClinVar Annotator: match by term: Perrault syndrome 6 ClinVar PMID:25741868 PMID:28449065 NCBI chr17:28,858,093...28,859,292 JBrowse link
Sexual Infantilism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G GH1 growth hormone 1 EXP CTD Direct Evidence: therapeutic CTD PMID:15151564 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment IDA DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) RGD PMID:17067837 PMID:22278433 RGD:12743588, RGD:12743598 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121157
    disease of anatomical entity 111928
      endocrine system disease 19500
        gonadal disease 2563
          disorder of sexual development 307
            gonadal dysgenesis 86
              46 XX gonadal dysgenesis + 30
              46,XX sex reversal + 7
              46,XY sex reversal + 35
              Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
              Kennerknecht Sorgo Oberhoffer Syndrome 0
              Perrault syndrome + 21
              Sexual Infantilism 1
              Turner syndrome + 9
              dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 3
              mixed gonadal dysgenesis + 0
              testicular dysgenesis syndrome 0
Path 2
Term Annotations click to browse term
  disease 121157
    Developmental Disease 43255
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 36556
        Congenital Abnormalities 16266
          Urogenital Abnormalities 617
            disorder of sexual development 307
              gonadal dysgenesis 86
                46 XX gonadal dysgenesis + 30
                46,XX sex reversal + 7
                46,XY sex reversal + 35
                Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
                Kennerknecht Sorgo Oberhoffer Syndrome 0
                Perrault syndrome + 21
                Sexual Infantilism 1
                Turner syndrome + 9
                dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 3
                mixed gonadal dysgenesis + 0
                testicular dysgenesis syndrome 0
paths to the root