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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:hyperpituitarism
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Accession:DOID:2444 term browser browse the term
Definition:Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA.
Synonyms:exact_synonym: Inappropriate FSH Secretion Syndrome;   Inappropriate Follicle Stimulating Hormone Secretion;   Inappropriate LH Secretion Syndrome;   Inappropriate Luteinizing Hormone Secretion;   Inappropriate TSH Secretion Syndrome;   Inappropriate Thyroid Stimulating Hormone Secretion;   Pituitary FSH Hypersecretion;   Pituitary LH Hypersecretion;   Pituitary TSH Hypersecretion
 primary_id: MESH:D006964
 xref: EFO:1000973
For additional species annotation, visit the Alliance of Genome Resources.


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acromegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:3059976 PMID:6237480 PMID:7440347 PMID:9186818 More... NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:9186818 PMID:18381583 PMID:18388193 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
Gigantism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD26 ankyrin repeat domain containing 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
hyperprolactinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC3 ATP binding cassette subfamily C member 3 ISO protein:increased expression:liver RGD PMID:23486593 RGD:11535162 NCBI chr17:50,634,881...50,692,253
Ensembl chr17:50,634,777...50,692,253 		JBrowse link
G DRD2 dopamine receptor D2 treatment EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286066 PMID:19339912 PMID:26297122 RGD:13506955 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G GAD1 glutamate decarboxylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO mRNA:increased expression:skin (rat) RGD PMID:8027581 RGD:4889559 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO mRNA:increased expression:ovary (rat) RGD PMID:2149342 RGD:4889596 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G LHB luteinizing hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G PGR progesterone receptor susceptibility IAGP RGD PMID:15807882 RGD:1601278 NCBI chr11:101,029,624...101,129,813
Ensembl chr11:101,029,624...101,129,813 		JBrowse link
G PRL prolactin ISO
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:2880862 PMID:2948424 PMID:4001434 PMID:17303669 PMID:17303669 RGD:1642575 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PRLR prolactin receptor IAGP ClinVar Annotator: match by term: Familial hyperprolactinemia OMIM
ClinVar		 PMID:25741868 PMID:30575453 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 treatment ISO RGD PMID:26297122 RGD:13506955 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 5:6,633,440...6,674,386
Ensembl chr 5:6,633,427...6,674,386 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938 		JBrowse link
G TH tyrosine hydroxylase treatment ISO protein:increased tyrosine nitration:hypothalamus, median eminence (rat) RGD PMID:21178126 PMID:26297122 RGD:5128768, RGD:13506955 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
pituitary-dependent Cushing's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 More... NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:7737262 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16809932 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: therapeutic CTD PMID:16809932 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G SCG5 secretogranin V ISS MouseDO NCBI chr15:32,641,710...32,697,092
Ensembl chr15:32,641,676...32,697,098 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP
EXP		 ClinVar Annotator: match by term: Pituitary dependent hypercortisolism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25485838 PMID:25675982 PMID:25741868 PMID:25942478 PMID:28492532 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1-4 H1.4 linker histone, cluster member IAGP ClinVar Annotator: match by term: Rahman syndrome
ClinVar Annotator: match by term: RAHMAN SYNDROME		 OMIM
ClinVar		 PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 More... NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 IAGP ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome
ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked		 ClinVar
OMIM		 PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G RETSAT retinol saturase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 2:85,341,955...85,354,528
Ensembl chr 2:85,341,955...85,354,531 		JBrowse link
Tatton-Brown-Rahman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD1 abhydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,123,815...27,130,812
Ensembl chr 2:27,123,789...27,130,812 		JBrowse link
G ADCY3 adenylate cyclase 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,819,169...24,920,237
Ensembl chr 2:24,819,169...24,920,237 		JBrowse link
G ADGRF3 adhesion G protein-coupled receptor F3 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,308,173...26,346,789
Ensembl chr 2:26,308,173...26,346,817 		JBrowse link
G AGBL5 AGBL carboxypeptidase 5 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G ATRAID all-trans retinoic acid induced differentiation factor IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,212,041...27,217,183
Ensembl chr 2:27,212,041...27,217,178 		JBrowse link
G BABAM2 BRISC and BRCA1 A complex member 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,888,709...28,338,901
Ensembl chr 2:27,889,941...28,338,901 		JBrowse link
G C2orf16 chromosome 2 open reading frame 16 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,537,386...27,582,722
Ensembl chr 2:27,537,386...27,582,722 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CCDC121 coiled-coil domain containing 121 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,625,638...27,629,012
Ensembl chr 2:27,625,638...27,629,012 		JBrowse link
G CENPA centromere protein A IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,786,056...26,794,589
Ensembl chr 2:26,764,289...26,801,067 		JBrowse link
G CENPO centromere protein O IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,793,425...24,822,376
Ensembl chr 2:24,793,136...24,822,376 		JBrowse link
G CGREF1 cell growth regulator with EF-hand domain 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,099,353...27,119,128
Ensembl chr 2:27,098,889...27,119,128 		JBrowse link
G CIB4 calcium and integrin binding family member 4 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,581,205...26,641,366
Ensembl chr 2:26,581,205...26,641,366 		JBrowse link
G DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,943,636...24,972,094
Ensembl chr 2:24,943,636...24,972,094 		JBrowse link
G DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,275,433...27,281,499
Ensembl chr 2:27,275,433...27,281,499 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar
OMIM		 PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 More... NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G DTNB dystrobrevin beta IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:25,377,243...25,673,577
Ensembl chr 2:25,377,198...25,673,647 		JBrowse link
G EFR3B EFR3 homolog B IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:25,042,076...25,159,135
Ensembl chr 2:25,042,076...25,159,135 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G FAM166C family with sequence similarity 166 member C IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,562,587...26,579,524
Ensembl chr 2:26,562,585...26,579,532 		JBrowse link
G FNDC4 fibronectin type III domain containing 4 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,491,883...27,495,200
Ensembl chr 2:27,491,883...27,495,200 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317 		JBrowse link
G GAREM2 GRB2 associated regulator of MAPK1 subtype 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,173,088...26,204,304
Ensembl chr 2:26,173,088...26,189,663 		JBrowse link
G GCKR glucokinase regulator IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684 		JBrowse link
G GPN1 GPN-loop GTPase 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,628,247...27,651,511
Ensembl chr 2:27,628,247...27,651,511 		JBrowse link
G GTF3C2 general transcription factor IIIC subunit 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,325,854...27,356,764
Ensembl chr 2:27,325,849...27,356,999 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G ITSN2 intersectin 2 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,202,864...24,361,368
Ensembl chr 2:24,202,864...24,360,536 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KHK ketohexokinase IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,086,772...27,100,762
Ensembl chr 2:27,086,772...27,100,762 		JBrowse link
G KIF3C kinesin family member 3C IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:25,926,598...25,982,497
Ensembl chr 2:25,926,598...25,982,749 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,442,381...27,446,481
Ensembl chr 2:27,442,366...27,446,481 		JBrowse link
G LOC122756673 Sharpr-MPRA regulatory region 14395 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:25,295,080...25,295,374 JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,970,637...27,027,219
Ensembl chr 2:26,970,637...27,027,219 		JBrowse link
G MIR1301 microRNA 1301 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:25,328,640...25,328,721
Ensembl chr 2:25,328,640...25,328,721 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MRPL33 mitochondrial ribosomal protein L33 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,771,719...27,779,733
Ensembl chr 2:27,771,717...27,988,087 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,491,254...24,770,702
Ensembl chr 2:24,491,254...24,770,702 		JBrowse link
G NRBP1 nuclear receptor binding protein 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,427,790...27,442,259
Ensembl chr 2:27,427,790...27,442,259 		JBrowse link
G OST4 oligosaccharyltransferase complex subunit 4, non-catalytic IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,070,472...27,071,654
Ensembl chr 2:27,070,472...27,071,654 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G PLB1 phospholipase B1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:28,496,060...28,644,142
Ensembl chr 2:28,457,145...28,644,142 		JBrowse link
G POMC proopiomelanocortin IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,381,199...27,409,591
Ensembl chr 2:27,381,195...27,409,591 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PREB prolactin regulatory element binding IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,130,756...27,134,636
Ensembl chr 2:27,130,756...27,134,666 		JBrowse link
G PRR30 proline rich 30 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,136,848...27,139,410
Ensembl chr 2:27,136,848...27,139,410 		JBrowse link
G PTRHD1 peptidyl-tRNA hydrolase domain containing 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 2:24,789,728...24,793,391
Ensembl chr 2:24,789,728...24,793,391 		JBrowse link
G RAB10 RAB10, member RAS oncogene family IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,033,285...26,137,454
Ensembl chr 2:26,034,084...26,137,454 		JBrowse link
G RBKS ribokinase IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,781,379...27,890,387
Ensembl chr 2:27,781,379...27,890,681 		JBrowse link
G SELENOI selenoprotein I IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885 		JBrowse link
G SLC30A3 solute carrier family 30 member 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,253,684...27,275,817
Ensembl chr 2:27,253,684...27,275,817 		JBrowse link
G SLC35F6 solute carrier family 35 member F6 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:26,764,284...26,781,231
Ensembl chr 2:26,764,284...26,781,231 		JBrowse link
G SLC4A1AP solute carrier family 4 member 1 adaptor protein IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,663,889...27,694,969
Ensembl chr 2:27,663,426...27,695,366 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
G SNX17 sorting nexin 17 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,370,616...27,377,535
Ensembl chr 2:27,370,496...27,377,535 		JBrowse link
G SUPT7L SPT7 like, STAGA complex subunit gamma IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,642,568...27,663,614
Ensembl chr 2:27,650,809...27,663,840 		JBrowse link
G TCF23 transcription factor 23 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,149,004...27,156,974
Ensembl chr 2:27,149,004...27,156,974 		JBrowse link
G TMEM214 transmembrane protein 214 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,032,965...27,041,694
Ensembl chr 2:27,032,910...27,041,694 		JBrowse link
G TRIM54 tripartite motif containing 54 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,282,429...27,307,435
Ensembl chr 2:27,282,429...27,307,439 		JBrowse link
G UCN urocortin IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445 		JBrowse link
G ZNF512 zinc finger protein 512 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,583,042...27,623,217
Ensembl chr 2:27,582,969...27,623,217 		JBrowse link
G ZNF513 zinc finger protein 513 IAGP ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:28492532 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790 		JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF125 ring finger protein 125 IAGP ClinVar Annotator: match by term: Tenorio syndrome ClinVar
OMIM		 PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,073,219 		JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIBP FGF1 intracellular binding protein IAGP ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome		 ClinVar
OMIM		 PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 26240
    disease of anatomical entity 21584
      endocrine system disease 7042
        pituitary gland disease 250
          hyperpituitarism 100
            Gigantism + 78
            acromegaly + 3
            hyperprolactinemia + 14
            pituitary-dependent Cushing's disease + 6
Path 2
Term Annotations click to browse term
  disease 26240
    disease of anatomical entity 21584
      nervous system disease 17673
        central nervous system disease 15626
          brain disease 14678
            thalamic disease 480
              hypothalamic disease 480
                pituitary gland disease 250
                  hyperpituitarism 100
                    Gigantism + 78
                    acromegaly + 3
                    hyperprolactinemia + 14
                    pituitary-dependent Cushing's disease + 6
paths to the root