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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:Gigantism
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Accession:DOID:9006084 term browser browse the term
Definition:The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
Synonyms:exact_synonym: Pituitary Gigantism
 primary_id: MESH:D005877

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Gigantism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chrNW_004955408:29,416,393...29,547,444
Ensembl chrNW_004955408:29,413,595...29,542,768 		JBrowse link
Rahman Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1-4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Rahman syndrome OMIM
ClinVar		 PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 More... NCBI chrNW_004955483:870,957...871,724 JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 OMIM
ClinVar		 PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483 		JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955473:1,546,615...1,655,822
Ensembl chrNW_004955473:1,546,326...1,655,822 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053 		JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chrNW_004955424:2,107,602...2,122,029
Ensembl chrNW_004955424:2,107,602...2,122,029 		JBrowse link
Tatton-Brown-Rahman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd1 abhydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,092,074...9,097,635
Ensembl chrNW_004955469:9,092,051...9,100,652 		JBrowse link
G Adcy3 adenylate cyclase 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,933,208...7,026,179
Ensembl chrNW_004955469:6,929,092...7,026,758 		JBrowse link
G Adgrf3 adhesion G protein-coupled receptor F3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,280,131...8,291,512 JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,023,753...9,041,674
Ensembl chrNW_004955469:9,023,534...9,044,070 		JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:7,786,030...7,923,739
Ensembl chrNW_004955469:7,786,154...7,923,500 		JBrowse link
G Atraid all-trans retinoic acid induced differentiation factor ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,194,656...9,203,292 JBrowse link
G Babam2 BRISC and BRCA1 A complex member 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,831,488...10,246,631
Ensembl chrNW_004955469:9,831,488...10,246,899 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865 		JBrowse link
G Ccdc121 coiled-coil domain containing 121 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:7,771,788...7,774,261 JBrowse link
G Cenpa centromere protein A ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,799,312...8,819,637
Ensembl chrNW_004955469:8,799,071...8,819,876 		JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,913,438...6,933,254
Ensembl chrNW_004955469:6,913,799...6,932,206 		JBrowse link
G Cgref1 cell growth regulator with EF-hand domain 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,072,333...9,086,427
Ensembl chrNW_004955469:9,072,563...9,086,615 		JBrowse link
G Cib4 calcium and integrin binding family member 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,604,866...8,669,890
Ensembl chrNW_004955469:8,604,799...8,669,916 		JBrowse link
G Cimip2c ciliary microtubule inner protein 2C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,588,820...8,603,333
Ensembl chrNW_004955469:8,588,900...8,604,337 		JBrowse link
G Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:7,046,671...7,078,666
Ensembl chrNW_004955469:7,044,804...7,078,666 		JBrowse link
G Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,254,372...9,257,235
Ensembl chrNW_004955469:9,255,194...9,257,215 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome OMIM
ClinVar		 PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059 		JBrowse link
G Dpysl5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,838,167...8,920,991
Ensembl chrNW_004955469:8,838,888...8,922,388 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,416,934...8,479,961
Ensembl chrNW_004955469:8,417,017...8,479,802 		JBrowse link
G Dtnb dystrobrevin beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:7,402,777...7,771,767 JBrowse link
G Efr3b EFR3 homolog B ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:7,159,087...7,215,234
Ensembl chrNW_004955469:7,159,087...7,215,627 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,328,900...9,334,463
Ensembl chrNW_004955469:9,328,943...9,334,315 		JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,049,666...9,057,692
Ensembl chrNW_004955469:9,049,662...9,057,684 		JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,456,964...9,459,721
Ensembl chrNW_004955469:9,456,236...9,459,721 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:10,297,179...10,319,180
Ensembl chrNW_004955469:10,297,179...10,319,180 		JBrowse link
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,170,914...8,182,193
Ensembl chrNW_004955469:8,171,714...8,181,052 		JBrowse link
G Gckr glucokinase regulator ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,461,541...9,485,034
Ensembl chrNW_004955469:9,461,848...9,484,707 		JBrowse link
G Gpn1 GPN-loop GTPase 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,580,068...9,602,575
Ensembl chrNW_004955469:9,580,118...9,601,696 		JBrowse link
G Gtf3c2 general transcription factor IIIC subunit 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,295,189...9,324,171
Ensembl chrNW_004955469:9,291,360...9,324,171 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,183,945...8,233,869
Ensembl chrNW_004955469:8,183,945...8,233,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,233,980...8,272,149
Ensembl chrNW_004955469:8,233,980...8,274,450 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,358,131...6,493,956
Ensembl chrNW_004955469:6,358,131...6,493,956 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,710,749...8,744,423
Ensembl chrNW_004955469:8,709,999...8,747,467 		JBrowse link
G Khk ketohexokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,058,095...9,071,091
Ensembl chrNW_004955469:9,058,095...9,071,091 		JBrowse link
G Kif3c kinesin family member 3C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:7,960,224...8,001,161
Ensembl chrNW_004955469:7,958,481...8,001,738 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,416,732...9,418,523
Ensembl chrNW_004955469:9,416,732...9,418,523 		JBrowse link
G Mapre3 microtubule associated protein RP/EB family member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,947,324...9,005,401
Ensembl chrNW_004955469:9,000,940...9,005,454 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,279,540...9,292,012
Ensembl chrNW_004955469:9,279,540...9,291,954 		JBrowse link
G Mrpl33 mitochondrial ribosomal protein L33 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,721,710...9,731,608
Ensembl chrNW_004955469:9,720,791...9,731,711 		JBrowse link
G Ncoa1 nuclear receptor coactivator 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,676,780...6,892,587
Ensembl chrNW_004955469:6,794,821...6,892,566 		JBrowse link
G Nrbp1 nuclear receptor binding protein 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,396,464...9,416,569
Ensembl chrNW_004955469:9,395,807...9,416,569 		JBrowse link
G Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,041,549...9,042,949
Ensembl chrNW_004955469:9,041,549...9,042,949 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,480,099...8,569,215
Ensembl chrNW_004955469:8,481,231...8,569,265 		JBrowse link
G Plb1 phospholipase B1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:10,370,646...10,511,263
Ensembl chrNW_004955469:10,401,178...10,511,057 		JBrowse link
G Pomc proopiomelanocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
G Ppm1g protein phosphatase, Mg2+/Mn2+ dependent 1G ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,344,968...9,350,123
Ensembl chrNW_004955469:9,344,968...9,350,125 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:10,657,029...10,682,398
Ensembl chrNW_004955469:10,662,032...10,682,398 		JBrowse link
G Preb prolactin regulatory element binding ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,097,579...9,101,361
Ensembl chrNW_004955469:9,098,124...9,101,408 		JBrowse link
G Prr30 proline rich 30 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,103,132...9,105,680
Ensembl chrNW_004955469:9,103,376...9,104,596 		JBrowse link
G Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chrNW_004955469:6,909,627...6,913,411
Ensembl chrNW_004955469:6,907,283...6,913,411 		JBrowse link
G Rab10 RAB10, member RAS oncogene family ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,057,235...8,138,983
Ensembl chrNW_004955469:8,057,235...8,138,983 		JBrowse link
G Rbks ribokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,734,551...9,831,397
Ensembl chrNW_004955469:9,734,563...9,831,127 		JBrowse link
G Selenoi selenoprotein I ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,369,499...8,410,628
Ensembl chrNW_004955469:8,369,479...8,408,659 		JBrowse link
G Slc30a3 solute carrier family 30 member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,235,159...9,254,291
Ensembl chrNW_004955469:9,235,104...9,254,964 		JBrowse link
G Slc35f6 solute carrier family 35 member F6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:8,774,225...8,787,549
Ensembl chrNW_004955469:8,773,989...8,787,549 		JBrowse link
G Slc4a1ap solute carrier family 4 member 1 adaptor protein ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,617,238...9,654,972
Ensembl chrNW_004955469:9,617,269...9,654,458 		JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,334,562...9,340,766
Ensembl chrNW_004955469:9,334,563...9,340,766 		JBrowse link
G Spata31h1 SPATA31 subfamily H member 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,495,012...9,525,267 JBrowse link
G Supt7l SPT7 like, STAGA complex subunit gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,584,863...9,617,194
Ensembl chrNW_004955469:9,601,767...9,617,188 		JBrowse link
G Tcf23 transcription factor 23 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,123,987...9,130,728
Ensembl chrNW_004955469:9,123,987...9,127,633 		JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,009,398...9,017,402
Ensembl chrNW_004955469:9,009,398...9,020,839 		JBrowse link
G Trim54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,258,946...9,277,275
Ensembl chrNW_004955469:9,258,946...9,277,275 		JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641 		JBrowse link
G Znf512 zinc finger protein 512 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,525,501...9,571,050
Ensembl chrNW_004955469:9,525,637...9,569,412 		JBrowse link
G Znf513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chrNW_004955469:9,340,872...9,344,593
Ensembl chrNW_004955469:9,340,878...9,344,593 		JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar		 PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chrNW_004955402:19,276,157...19,310,605
Ensembl chrNW_004955402:19,295,809...19,309,987 		JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 NCBI chrNW_004955422:19,435,528...19,440,095
Ensembl chrNW_004955422:19,435,380...19,440,095 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      bone development disease 2150
        Gigantism 74
          Rahman Syndrome 1
          Simpson-Golabi-Behmel syndrome type 1 4
          THAUVIN-ROBINET-FAIVRE SYNDROME 1
          Tatton-Brown-Rahman syndrome 66
          Tenorio Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            hypothalamic disease 449
              pituitary gland disease 229
                hyperpituitarism 94
                  Gigantism 74
                    Rahman Syndrome 1
                    Simpson-Golabi-Behmel syndrome type 1 4
                    THAUVIN-ROBINET-FAIVRE SYNDROME 1
                    Tatton-Brown-Rahman syndrome 66
                    Tenorio Syndrome 1
paths to the root