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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:hypothalamic disease
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Accession:DOID:1931 term browser browse the term
Definition:A brain disease located_in the hypothalamus. (DO)
Synonyms:exact_synonym: Hypothalamic Dysfunction Syndrome;   Hypothalamic Dysinhibition Syndrome;   Hypothalamic Dysinhibition Syndromes;   Hypothalamic Neurohypophyseal Disorders;   Hypothalamic Overactivity Syndrome;   Hypothalamic Overactivity Syndromes;   Hypothalamic Pseudopuberties;   Hypothalamic-Adenohypophyseal Disorder;   Hypothalamic-Neurohypophyseal Disorder;   hypothalamic adenohypophyseal disorders;   hypothalamic diseases;   hypothalamic dysfunction syndromes;   hypothalamic pseudopuberty;   pituitary diencephalic syndrome;   pituitary diencephalic syndromes
 primary_id: MESH:D007027
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
ACTH-secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic		 CTD
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 AVPR1B arginine vasopressin receptor 1B IEP RGD PMID:23884782 RGD:14700670 NCBI chr 1:206,106,936...206,117,388
Ensembl chr 1:206,106,936...206,117,699 		JBrowse link
G BMP4 bone morphogenetic protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G USP8 ubiquitin specific peptidase 8 EXP
IAGP		 CTD Direct Evidence: marker/mechanism CTD
OMIM		 PMID:25485838 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:25741868 NCBI chr16:88,731,180...88,741,425 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:25741868 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954 		JBrowse link
G TBX19 T-box transcription factor 19 IAGP
ISS
EXP		 ClinVar Annotator: match by term: ACTH deficiency
OMIM:201400
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chr 1:168,280,877...168,314,426
Ensembl chr 1:168,280,877...168,314,426 		JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKI67 marker of proliferation Ki-67 severity IEP RGD PMID:21696422 RGD:6483520 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP
EXP		 ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by term: LARP7-related condition
ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696 		JBrowse link
G LOC126806659 BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 3:41,233,427...41,234,626 JBrowse link
G MIR302CHG miR-302/367 cluster host gene IAGP ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition		 ClinVar PMID:21937992 PMID:22865833 PMID:25741868 PMID:26374271 PMID:26539891 More... NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,650,051 		JBrowse link
G MIR302D microRNA 302d IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071 		JBrowse link
G MIR367 microRNA 367 IAGP ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 4:112,647,874...112,647,941
Ensembl chr 4:112,647,874...112,647,941 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 IAGP ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Bardet-Biedl syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ADGRG3 adhesion G protein-coupled receptor G3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,665,629...57,689,378
Ensembl chr16:57,668,277...57,689,378 		JBrowse link
G ADGRG5 adhesion G protein-coupled receptor G5 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,529,073...57,577,189
Ensembl chr16:57,542,643...57,591,681 		JBrowse link
G ADPGK ADP dependent glucokinase IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:72,751,294...72,783,758
Ensembl chr15:72,751,294...72,785,846 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15689433 PMID:17594715 PMID:24400638 PMID:25741868 PMID:28492532 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G AMFR autocrine motility factor receptor IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545 		JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,773,898...65,780,976
Ensembl chr11:65,773,898...65,780,976 		JBrowse link
G ARID3B AT-rich interaction domain 3B IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,541,220...74,598,131
Ensembl chr15:74,541,206...74,598,131 		JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,014,160...65,022,184
Ensembl chr11:65,014,160...65,022,184 		JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635 		JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP DNA:missense mutations:multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:22773737 More... RGD:1578724 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396 		JBrowse link
G ASTN2 astrotactin 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,423,112...117,415,070 		JBrowse link
G ATG2A autophagy related 2A IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,894,546...64,917,209
Ensembl chr11:64,894,546...64,917,209 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,987,945...64,996,971
Ensembl chr11:64,987,945...64,997,018 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:8316268 PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 More... RGD:1579969 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IGI
IAGP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar
RGD		 PMID:2748677 PMID:5982971 PMID:9536098 PMID:16582908 PMID:16823392 More... RGD:11352646 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:17160889 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20142850 More... NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP DNA:missense, deletion, nonsense mutations:cds:
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 More... RGD:70665 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 More... NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:9536098 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 More... RGD:1579974 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar
RGD		 PMID:9536098 PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 More... RGD:1579975 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP DNA:mutations:multiple:
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 More... RGD:9684996 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,337,339...66,345,104
Ensembl chr11:66,337,333...66,345,125 		JBrowse link
G C11orf68 chromosome 11 open reading frame 68 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,916,810...65,919,062
Ensembl chr11:65,916,810...65,919,062 		JBrowse link
G CACNG2-DT CACNG2 divergent transcript IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29704304 PMID:30761183 NCBI chr22:36,703,876...36,767,089 JBrowse link
G CAPN1 calpain 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CCDC102A coiled-coil domain containing 102A IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,512,181...57,537,016
Ensembl chr16:57,512,181...57,536,571 		JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP DNA:mutation:exon:430C>T(human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:12677556 PMID:16327777 PMID:29127258 PMID:16327777 RGD:9685059 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453 		JBrowse link
G CCDC33 coiled-coil domain containing 33 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,202,999...74,336,472
Ensembl chr15:74,202,705...74,336,472 		JBrowse link
G CCDC85B coiled-coil domain containing 85B IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,890,673...65,891,635
Ensembl chr11:65,890,673...65,891,635 		JBrowse link
G CCL17 C-C motif chemokine ligand 17 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189 		JBrowse link
G CD248 CD248 molecule IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,314,494...66,317,044
Ensembl chr11:66,314,494...66,317,044 		JBrowse link
G CD276 CD276 molecule IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,683,944...73,714,514
Ensembl chr15:73,683,966...73,714,514 		JBrowse link
G CDC42BPG CDC42 binding protein kinase gamma IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,823,052...64,844,653
Ensembl chr11:64,823,052...64,844,653 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,314,866...65,322,417
Ensembl chr11:65,314,866...65,322,417 		JBrowse link
G CDCA5 cell division cycle associated 5 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,061,093...65,084,040
Ensembl chr11:65,066,300...65,084,164 		JBrowse link
G CEP19 centrosomal protein 19 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:18327255 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CETP cholesteryl ester transfer protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845 		JBrowse link
G CFAP20 cilia and flagella associated protein 20 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,113,592...58,129,381
Ensembl chr16:58,113,592...58,129,381 		JBrowse link
G CFAP263 cilia and flagella associated protein 263 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,249,936...58,283,836
Ensembl chr16:58,231,157...58,283,836 		JBrowse link
G CFL1 cofilin 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026 		JBrowse link
G CIAPIN1 cytokine induced apoptosis inhibitor 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,428,187...57,447,385
Ensembl chr16:57,428,187...57,447,420 		JBrowse link
G CLK3 CDC like kinase 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,608,372...74,630,201
Ensembl chr15:74,598,500...74,645,414 		JBrowse link
G CNGB1 cyclic nucleotide gated channel subunit beta 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128 		JBrowse link
G CNIH2 cornichon family AMPA receptor auxiliary protein 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,278,175...66,284,206
Ensembl chr11:66,278,175...66,285,301 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COQ9 coenzyme Q9 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,447,479...57,461,270
Ensembl chr16:57,447,425...57,461,270 		JBrowse link
G CPLX3 complexin 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,826,627...74,831,802
Ensembl chr15:74,826,627...74,831,802 		JBrowse link
G CPNE2 copine 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,092,583...57,148,369
Ensembl chr16:57,092,583...57,148,369 		JBrowse link
G CSK C-terminal Src kinase IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,782,080...74,803,197
Ensembl chr15:74,782,080...74,803,197 		JBrowse link
G CSNK2A2 casein kinase 2 alpha 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,157,907...58,198,106
Ensembl chr16:58,157,907...58,198,106 		JBrowse link
G CST6 cystatin E/M IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505 		JBrowse link
G CTSW cathepsin W IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,879,837...65,883,741
Ensembl chr11:65,879,809...65,883,741 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607 		JBrowse link
G DHRS9 dehydrogenase/reductase 9 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:169,067,077...169,096,167
Ensembl chr 2:169,064,789...169,096,167 		JBrowse link
G DOK4 docking protein 4 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,471,922...57,487,322
Ensembl chr16:57,471,922...57,487,327 		JBrowse link
G DPF2 double PHD fingers 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPP3 dipeptidyl peptidase 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,480,434...66,509,657
Ensembl chr11:66,480,013...66,509,657 		JBrowse link
G DRAP1 DR1 associated protein 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,919,426...65,921,563
Ensembl chr11:65,919,274...65,921,563 		JBrowse link
G DRC7 dynein regulatory complex subunit 7 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,694,806...57,731,805
Ensembl chr16:57,694,793...57,731,805 		JBrowse link
G EDC3 enhancer of mRNA decapping 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,630,558...74,696,024
Ensembl chr15:74,630,558...74,696,292 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EHBP1 EH domain binding protein 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:62,673,878...63,046,487
Ensembl chr 2:62,673,851...63,046,487 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650 		JBrowse link
G EHD1 EH domain containing 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,851,642...64,879,693
Ensembl chr11:64,851,642...64,888,296 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,996,545...66,002,157
Ensembl chr11:65,996,545...66,002,176 		JBrowse link
G EML5 EMAP like 5 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,612,431...88,792,953
Ensembl chr14:88,612,431...88,792,953 		JBrowse link
G FAM89B family with sequence similarity 89 member B IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,572,538...65,574,190
Ensembl chr11:65,572,349...65,574,198 		JBrowse link
G FAU FAU ubiquitin like and ribosomal protein S30 fusion IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,120,630...65,122,134
Ensembl chr11:65,120,630...65,122,177 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573 		JBrowse link
G FRMD8 FERM domain containing 8 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,368,026...65,426,526
Ensembl chr11:65,386,621...65,413,525 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,040,765...66,049,161
Ensembl chr11:66,040,765...66,049,161 		JBrowse link
G GINS3 GINS complex subunit 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,392,471...58,406,147
Ensembl chr16:58,295,080...58,406,147 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444 		JBrowse link
G GOLGA6A golgin A6 family member A IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,069,857...74,082,550
Ensembl chr15:74,069,857...74,082,550 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342 		JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,934,471...64,937,708
Ensembl chr11:64,934,471...64,935,893 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,932,142...56,944,864
Ensembl chr16:56,932,142...56,944,864 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:24140113 PMID:25168386 PMID:25741868 PMID:28492532 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29704304 PMID:30761183 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G INSYN1 inhibitory synaptic factor 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,735,458...73,753,351
Ensembl chr15:73,735,458...73,753,351 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G ISLR immunoglobulin superfamily containing leucine rich repeat IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,173,710...74,176,871
Ensembl chr15:74,173,710...74,176,872 		JBrowse link
G ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,100,318...74,141,826
Ensembl chr15:74,100,311...74,138,540 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,592,836...65,595,800
Ensembl chr11:65,592,836...65,595,996 		JBrowse link
G KIFC3 kinesin family member C3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,758,217...57,862,858
Ensembl chr16:57,758,217...57,863,053 		JBrowse link
G KLC2 kinesin light chain 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KLHL41 kelch like family member 41 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LMAN1L lectin, mannose binding 1 like IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,812,835...74,825,754
Ensembl chr15:74,812,716...74,825,757 		JBrowse link
G LOC126806173 BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,453,190...27,454,389 JBrowse link
G LOC128706665 uncharacterized LOC128706665 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr20:10,413,708...10,434,222 JBrowse link
G LOC128706666 uncharacterized LOC128706666 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr20:10,413,708...10,434,222 JBrowse link
G LOC129390658 MPRA-validated peak2226 silencer IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,766,312...88,766,512 JBrowse link
G LOC129934936 ATAC-STARR-seq lymphoblastoid active region 16656 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868
G LOC129935067 ATAC-STARR-seq lymphoblastoid active region 16737 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868
G LOC129935068 ATAC-STARR-seq lymphoblastoid active region 16738 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:15137946 PMID:16877420 PMID:17576681 PMID:19797195 More...
G LOC129993036 ATAC-STARR-seq lymphoblastoid active region 21872 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
G LOC130056226 ATAC-STARR-seq lymphoblastoid active region 8840 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,385,530...88,385,849 JBrowse link
G LOC130056227 ATAC-STARR-seq lymphoblastoid active region 8841 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,492,443...88,492,632 JBrowse link
G LOC130056228 ATAC-STARR-seq lymphoblastoid silent region 5991 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,554,965...88,555,014 JBrowse link
G LOC130056229 ATAC-STARR-seq lymphoblastoid silent region 5992 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,562,826...88,563,535 JBrowse link
G LOC130056230 ATAC-STARR-seq lymphoblastoid active region 8842 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,600,052...88,600,331 JBrowse link
G LOC130056231 ATAC-STARR-seq lymphoblastoid active region 8843 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,668,395...88,668,574 JBrowse link
G LOC130056232 ATAC-STARR-seq lymphoblastoid silent region 5993 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,792,464...88,792,543 JBrowse link
G LOC130056233 ATAC-STARR-seq lymphoblastoid silent region 5994 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,792,734...88,793,093 JBrowse link
G LOC130056234 ATAC-STARR-seq lymphoblastoid active region 8844 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,824,303...88,824,662 JBrowse link
G LOC130061278 ATAC-STARR-seq lymphoblastoid silent region 8765 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr17:58,327,848...58,327,957 JBrowse link
G LOXL1 lysyl oxidase like 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,926,462...73,952,136
Ensembl chr15:73,925,989...73,952,137 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MAJIN membrane anchored junction protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,938,230...64,972,108
Ensembl chr11:64,937,517...64,972,108 		JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,640...65,508,073 		JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,597,757...65,614,221
Ensembl chr11:65,597,756...65,615,382 		JBrowse link
G MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,784,918...64,803,214
Ensembl chr11:64,784,918...64,803,241 		JBrowse link
G MDH1 malate dehydrogenase 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MIR138-2 microRNA 138-2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,858,518...56,858,601
Ensembl chr16:56,858,518...56,858,601 		JBrowse link
G MIR192 microRNA 192 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246 		JBrowse link
G MIR194-2 microRNA 194-2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,891,355...64,891,439
Ensembl chr11:64,891,355...64,891,439 		JBrowse link
G MKKS MKKS centrosomal shuttling protein TAS
IAGP		 Bardet-Biedl syndrome 6 (BBS6)
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:2896767 PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 More... RGD:1601414, RGD:1581208 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP
EXP		 DNA:missense mutations: :p.D286G, p.I450T, p.C492W (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:18327255 PMID:25741868 PMID:28492532 PMID:31456290 PMID:18327255 RGD:11070512 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MMP15 matrix metallopeptidase 15 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,025,754...58,046,901
Ensembl chr16:58,025,754...58,046,901 		JBrowse link
G MPI mannose phosphate isomerase IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,435,075...66,438,848
Ensembl chr11:66,435,075...66,466,738 		JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,122,183...65,127,371
Ensembl chr11:65,122,183...65,127,371 		JBrowse link
G MT1A metallothionein 1A IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087 		JBrowse link
G MT1B metallothionein 1B IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,651,886...56,653,204
Ensembl chr16:56,651,886...56,653,204 		JBrowse link
G MT1E metallothionein 1E IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,625,781...56,627,112
Ensembl chr16:56,625,475...56,627,112 		JBrowse link
G MT1F metallothionein 1F IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,657,959...56,659,303
Ensembl chr16:56,657,731...56,660,698 		JBrowse link
G MT1G metallothionein 1G IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,666,730...56,668,065
Ensembl chr16:56,666,730...56,668,065 		JBrowse link
G MT1H metallothionein 1H IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,669,814...56,671,129
Ensembl chr16:56,669,814...56,671,129 		JBrowse link
G MT1M metallothionein 1M IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,632,659...56,633,981
Ensembl chr16:56,632,659...56,633,981 		JBrowse link
G MT1X metallothionein 1X IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196 		JBrowse link
G MT2A metallothionein 2A IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497 		JBrowse link
G MT3 metallothionein 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088 		JBrowse link
G MT4 metallothionein 4 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,565,073...56,568,957
Ensembl chr16:56,565,073...56,568,957 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,044,818...65,061,203
Ensembl chr11:65,044,818...65,058,553 		JBrowse link
G NDRG4 NDRG family member 4 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,463,715...58,515,387
Ensembl chr16:58,462,846...58,513,628 		JBrowse link
G NEAT1 nuclear paraspeckle assembly transcript 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,422,798...65,445,540
Ensembl chr11:65,422,774...65,445,540 		JBrowse link
G NEO1 neogenin 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,051,692...73,305,206
Ensembl chr15:73,051,710...73,305,205 		JBrowse link
G NLRC5 NLR family CARD domain containing 5 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,989,557...57,083,520
Ensembl chr16:56,989,485...57,083,531 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,409,158...66,426,707
Ensembl chr11:66,421,035...66,426,707 		JBrowse link
G NPHP1 nephrocystin 1 IGI RGD PMID:24746959 PMID:24746959 RGD:11352646, RGD:11352646 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15776426 PMID:25741868 PMID:28492532 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NPTN neuroplastin IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,560,014...73,633,389
Ensembl chr15:73,560,014...73,634,134 		JBrowse link
G NT5C3A 5'-nucleotidase, cytosolic IIIA IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 7:33,014,113...33,062,776
Ensembl chr 7:33,014,130...33,062,796 		JBrowse link
G NUDT21 nudix hydrolase 21 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,429,133...56,451,332
Ensembl chr16:56,429,133...56,452,199 		JBrowse link
G NUP93 nucleoporin 93 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		JBrowse link
G OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,451,524...56,479,104
Ensembl chr16:56,451,521...56,479,104 		JBrowse link
G OSBPL8 oxysterol binding protein like 8 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 More... NCBI chr12:76,351,797...76,559,771
Ensembl chr12:76,351,797...76,559,809 		JBrowse link
G OTX1 orthodenticle homeobox 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:63,049,735...63,057,831
Ensembl chr 2:63,050,057...63,057,836 		JBrowse link
G OVOL1 ovo like transcriptional repressor 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,787,063...65,797,214
Ensembl chr11:65,787,063...65,797,214 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PCNX3 pecanex 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,615,776...65,637,439
Ensembl chr11:65,615,776...65,637,439 		JBrowse link
G PELI1 pellino E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:64,092,652...64,144,420
Ensembl chr 2:64,092,652...64,144,420 		JBrowse link
G PELI3 pellino E3 ubiquitin protein ligase family member 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,466,327...66,477,337
Ensembl chr11:66,466,327...66,477,337 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031 		JBrowse link
G PLLP plasmolipin IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,256,097...57,284,672
Ensembl chr16:57,248,547...57,284,672 		JBrowse link
G PML PML nuclear body scaffold IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,261,962...65,305,985
Ensembl chr11:65,261,913...65,305,959 		JBrowse link
G POLR2C RNA polymerase II subunit C IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,462,679...57,472,009
Ensembl chr16:57,462,660...57,472,009 		JBrowse link
G PPP2R5B protein phosphatase 2 regulatory subunit B'beta IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,917,573...64,934,475
Ensembl chr11:64,917,553...64,934,475 		JBrowse link
G PRSS54 serine protease 54 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,279,997...58,295,025
Ensembl chr16:58,279,997...58,295,047 		JBrowse link
G PSMD1 proteasome 26S subunit, non-ATPase 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 2:231,056,867...231,172,827
Ensembl chr 2:231,056,845...231,173,116 		JBrowse link
G PSME3IP1 proteasome activator subunit 3 interacting protein 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,152,466...57,186,116
Ensembl chr16:57,152,466...57,186,116 		JBrowse link
G PTPN21 protein tyrosine phosphatase non-receptor type 21 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,465,778...88,555,007
Ensembl chr14:88,465,778...88,555,007 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G RAB1B RAB1B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,268,639...66,277,492
Ensembl chr11:66,268,590...66,277,492 		JBrowse link
G REC114 REC114 meiotic recombination protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,443,164...73,560,013
Ensembl chr15:73,443,164...73,560,013 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RIN1 Ras and Rab interactor 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,330,241...66,336,774
Ensembl chr11:66,330,241...66,336,840 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RP9 RP9 pre-mRNA splicing factor IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G SAC3D1 SAC3 domain containing 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,040,933...65,044,828
Ensembl chr11:65,040,901...65,044,828 		JBrowse link
G SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,961,734...65,980,137
Ensembl chr11:65,961,728...65,980,137 		JBrowse link
G SCAMP2 secretory carrier membrane protein 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,843,730...74,873,365
Ensembl chr15:74,843,730...74,873,365 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16199547 PMID:20835237 PMID:21866095 PMID:22190896 PMID:23559409 More... NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SEMA7A semaphorin 7A (JohnMiltonHagen blood group) IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,409,289...74,433,958
Ensembl chr15:74,409,289...74,433,958 		JBrowse link
G SETD6 SET domain containing 6, protein lysine methyltransferase IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,515,479...58,523,842
Ensembl chr16:58,515,479...58,523,842 		JBrowse link
G SF1 splicing factor 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:64,764,606...64,778,542
Ensembl chr11:64,764,606...64,778,786 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,638,101...65,650,912
Ensembl chr11:65,638,101...65,650,918 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,375,192...65,383,701
Ensembl chr11:65,375,192...65,383,701 		JBrowse link
G SLC29A2 solute carrier family 29 member 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,362,521...66,372,446
Ensembl chr11:66,362,521...66,372,214 		JBrowse link
G SLC38A7 solute carrier family 38 member 7 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,665,109...58,684,770
Ensembl chr16:58,665,109...58,684,770 		JBrowse link
G SLX4IP SLX4 interacting protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr20:10,435,305...10,628,030
Ensembl chr20:10,435,305...10,636,829 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SNX15 sorting nexin 15 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,027,439...65,040,572
Ensembl chr11:65,027,439...65,040,572 		JBrowse link
G SNX32 sorting nexin 32 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,833,963...65,853,701
Ensembl chr11:65,833,834...65,856,896 		JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350 		JBrowse link
G SPDYC speedy/RINGO cell cycle regulator family member C IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,170,233...65,173,374
Ensembl chr11:65,170,233...65,173,374 		JBrowse link
G SPMIP8 sperm microtubule inner protein 8 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,976,544...57,988,116
Ensembl chr16:57,976,435...57,988,116 		JBrowse link
G STOML1 stomatin like 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,978,926...73,994,622
Ensembl chr15:73,978,926...73,994,622 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G SYVN1 synoviolin 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,127,279...65,134,519
Ensembl chr11:65,121,780...65,134,532 		JBrowse link
G TBC1D21 TBC1 domain family member 21 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:73,873,564...73,910,024
Ensembl chr15:73,873,564...73,889,214 		JBrowse link
G TBC1D32 TBC1 domain family member 32 ISS MouseDO NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745 		JBrowse link
G TIGD3 tigger transposable element derived 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,354,751...65,357,613
Ensembl chr11:65,354,751...65,357,613 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384 		JBrowse link
G TMEM151A transmembrane protein 151A IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP
EXP		 DNA:missense mutation: :p.S320C (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:16415887 PMID:18327255 PMID:20232449 PMID:23559409 PMID:25741868 More... RGD:11070512 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRAPPC3 trafficking protein particle complex subunit 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 1:36,136,572...36,156,053
Ensembl chr 1:36,136,570...36,156,053 		JBrowse link
G TRIM32 tripartite motif containing 32 susceptibility IAGP DNA:missense mutation:exon:p.P130S
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... RGD:1624129 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TSGA10IP testis specific 10 interacting protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,945,480...65,959,966
Ensembl chr11:65,945,480...65,959,966 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TSPOAP1-AS1 TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr17:58,325,450...58,353,727
Ensembl chr17:58,324,472...58,415,766 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 susceptibility IAGP DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 ClinVar
RGD		 PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 More... RGD:1624198 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G UBL7 ubiquitin like 7 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,445,977...74,461,188
Ensembl chr15:74,445,977...74,461,182 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562 		JBrowse link
G ULK3 unc-51 like kinase 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr15:74,836,118...74,843,156
Ensembl chr15:74,836,118...74,843,346 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G VPS54 VPS54 subunit of GARP complex IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 2:63,892,150...64,019,428
Ensembl chr 2:63,892,146...64,019,428 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G WDR19 WD repeat domain 19 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:66,284,580...66,289,143
Ensembl chr11:66,284,580...66,289,145 		JBrowse link
G ZC3H14 zinc finger CCCH-type containing 14 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:88,563,037...88,627,596
Ensembl chr14:88,562,970...88,627,596 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr11:66,520,625...66,546,048
Ensembl chr11:66,520,637...66,546,235 		JBrowse link
G ZFPL1 zinc finger protein like 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,084,222...65,088,398
Ensembl chr11:65,084,210...65,088,398 		JBrowse link
G ZNF319 zinc finger protein 319 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,994,676...58,000,672
Ensembl chr16:57,994,676...58,000,672 		JBrowse link
G ZNHIT2 zinc finger HIT-type containing 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,116,403...65,117,701
Ensembl chr11:65,116,403...65,117,701 		JBrowse link
G ZNRD2 zinc ribbon domain containing 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr11:65,570,477...65,571,888
Ensembl chr11:65,570,460...65,573,942 		JBrowse link
Bardet-Biedl syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6 ADP ribosylation factor like GTPase 6 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15258860 PMID:15314642 PMID:19236846 PMID:19858128 PMID:20142850 More... NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
OMIM:209900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 More... NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16582908 PMID:17106446 PMID:17980398 PMID:19190184 PMID:20080638 More... NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:17160889 PMID:20498079 PMID:22025579 PMID:22773737 PMID:23591405 More... NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:12524598 PMID:22025579 PMID:24349080 PMID:24793135 PMID:25741868 More... NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:12016587 PMID:20177705 PMID:20498079 PMID:25741868 PMID:28492532 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:15137946 PMID:16199547 PMID:16877420 PMID:21209035 PMID:25741868 More... NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16380913 PMID:20177705 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of		 OMIM
CTD
ClinVar		 PMID:12677556 PMID:16327777 PMID:25741868 PMID:28492532 PMID:29127258 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G LOC126862183 BRD4-independent group 4 enhancer GRCh37_chr15:76726060-76727259 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar NCBI chr15:76,433,719...76,434,918 JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:23692385 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar PMID:12837689 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G STX3 syntaxin 3 ISO RGD PMID:26216965 RGD:11532386 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1		 ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr11:66,520,625...66,546,048
Ensembl chr11:66,520,637...66,546,235 		JBrowse link
Bardet-Biedl Syndrome 1/2, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS2 Bardet-Biedl syndrome 2 IAGP ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic ClinVar PMID:11285252 PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 More... NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
Bardet-Biedl Syndrome 1/7, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS7 Bardet-Biedl syndrome 7 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic ClinVar PMID:12567324 PMID:20498079 PMID:21642631 PMID:22500027 PMID:23572516 More... NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
Bardet-Biedl syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS10 Bardet-Biedl syndrome 10 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 10
ClinVar Annotator: match by term: BBS10-related condition
ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10
OMIM:615987
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16582908 PMID:16823392 PMID:17106446 PMID:17576681 More... NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G OSBPL8 oxysterol binding protein like 8 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 ClinVar PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 More... NCBI chr12:76,351,797...76,559,771
Ensembl chr12:76,351,797...76,559,809 		JBrowse link
Bardet-Biedl syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASTN2 astrotactin 2 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,423,112...117,415,070 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
Bardet-Biedl syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS12 Bardet-Biedl syndrome 12 IAGP
EXP		 ClinVar Annotator: match by term: BBS12-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 12
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17160889 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 More... NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
Bardet-Biedl syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061271 ATAC-STARR-seq lymphoblastoid active region 12461 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 ClinVar PMID:16415886 PMID:19466712 PMID:24886560 PMID:25741868 PMID:26490104 More... NCBI chr17:58,219,083...58,219,362 JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
Bardet-Biedl syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G LOC129390514 MPRA-validated peak1864 silencer IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 ClinVar PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:20690115 More... NCBI chr12:88,062,639...88,062,839 JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr12:88,035,536...88,050,160
Ensembl chr12:88,033,846...88,050,160 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2929661 PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 More... NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Bardet-Biedl syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDPCP WD repeat containing planar cell polarity effector IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 15
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
Bardet-Biedl syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:28492532 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:24033266 More... NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 16
OMIM:615993
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:22190896 More... NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
Bardet-Biedl syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR9 C-C motif chemokine receptor 9 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 ClinVar NCBI chr 3:45,886,064...45,903,174
Ensembl chr 3:45,884,425...45,903,174 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 17
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition
OMIM:615994
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:22510444 PMID:23692385 PMID:25741868 PMID:25741916 PMID:28492532 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G STX3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
Bardet-Biedl syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBIP1 BBSome interacting protein 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 18
ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18
OMIM:615995
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:24026985 PMID:25741868 PMID:25741913 More... NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
Bardet-Biedl syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNG2-DT CACNG2 divergent transcript IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 19
ClinVar Annotator: match by term: IFT27-related condition		 ClinVar PMID:24488770 PMID:25741868 PMID:27894351 PMID:28492532 PMID:29704304 More... NCBI chr22:36,703,876...36,767,089 JBrowse link
G IFT27 intraflagellar transport 27 IAGP
EXP		 ClinVar Annotator: match by term: IFT27-related condition
ClinVar Annotator: match by term: Bardet-Biedl syndrome 19
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24488770 PMID:25741868 PMID:27894351 PMID:28492532 PMID:29704304 More... NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G LOC126863139 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37161913-37163112 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 19
ClinVar Annotator: match by term: IFT27-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:36,765,869...36,767,068 JBrowse link
Bardet-Biedl syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS2 Bardet-Biedl syndrome 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 2
ClinVar Annotator: match by term: BBS2-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 2
OMIM:615981
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 More... NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891 		JBrowse link
Bardet-Biedl Syndrome 2/4, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS2 Bardet-Biedl syndrome 2 IAGP ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic ClinVar PMID:11567139 PMID:20498079 PMID:25741868 PMID:26355662 PMID:27894351 More... NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
Bardet-Biedl Syndrome 2/6, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS2 Bardet-Biedl syndrome 2 IAGP ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic ClinVar PMID:11285252 PMID:11567139 PMID:15666242 PMID:20120035 PMID:20177705 More... NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
Bardet-Biedl syndrome 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 OMIM
ClinVar		 PMID:24140113 PMID:24290075 PMID:25168386 PMID:25741868 PMID:26763875 More... NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 ClinVar PMID:25168386 PMID:25741868 PMID:28492532 NCBI chr 2:27,442,381...27,446,481
Ensembl chr 2:27,442,366...27,446,481 		JBrowse link
G LOC126806173 BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,453,190...27,454,389 JBrowse link
G LOC126806174 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27681686-27682885 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 ClinVar PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 2:27,458,819...27,460,018 JBrowse link
Bardet-Biedl syndrome 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP418 cilia and flagella associated protein 418 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-biedl syndrome 21
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22177090 PMID:25515582 PMID:25741868 PMID:26355662 PMID:26854863 More... NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CFAP418-AS1 CFAP418 antisense RNA 1 IAGP ClinVar Annotator: match by term: Bardet-biedl syndrome 21 ClinVar PMID:25741868 NCBI chr 8:95,268,836...95,810,143
Ensembl chr 8:95,204,456...95,811,254 		JBrowse link
G LOC130000784 ATAC-STARR-seq lymphoblastoid active region 27655 IAGP ClinVar Annotator: match by term: Bardet-biedl syndrome 21 ClinVar PMID:25741868 NCBI chr 8:95,268,793...95,269,232 JBrowse link
Bardet-Biedl syndrome 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT172 intraflagellar transport 172 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 ClinVar PMID:24290075 PMID:25741868 PMID:28492532 PMID:31587445 PMID:32451492 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 22
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27486776 PMID:28492532 More... NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
Bardet-Biedl syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6 ADP ribosylation factor like GTPase 6 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 3
OMIM:600151
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15258860 PMID:15314642 PMID:16199547 PMID:17160889 More... NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G EPHA6 EPH receptor A6 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 ClinVar PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:27486776 More... NCBI chr 3:96,814,594...97,761,532
Ensembl chr 3:96,814,581...97,761,532 		JBrowse link
Bardet-Biedl syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS4 Bardet-Biedl syndrome 4 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 4
ClinVar Annotator: match by term: BBS4-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 4
OMIM:615982
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 More... NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
Bardet-Biedl syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS5 Bardet-Biedl syndrome 5 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 5
ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5
OMIM:615983
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11342895 PMID:15137946 PMID:16199547 PMID:16877420 More... NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G LOC129935068 ATAC-STARR-seq lymphoblastoid active region 16738 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 5
ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5		 ClinVar PMID:9536098 PMID:11342895 PMID:17576681 PMID:19797195 PMID:25741868 More...
Bardet-Biedl syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC128706665 uncharacterized LOC128706665 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 ClinVar NCBI chr20:10,413,708...10,434,222 JBrowse link
G LOC128706666 uncharacterized LOC128706666 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 ClinVar NCBI chr20:10,413,708...10,434,222 JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 6
OMIM:605231
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 More... NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
Bardet-Biedl Syndrome 6/10, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS10 Bardet-Biedl syndrome 10 IAGP ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic ClinVar PMID:16582908 PMID:20120035 PMID:20805367 PMID:20876674 PMID:21052717 More... NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
Bardet-Biedl syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS7 Bardet-Biedl syndrome 7 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 7
ClinVar Annotator: match by term: BBS7-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 7
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 More... NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G LOC129993036 ATAC-STARR-seq lymphoblastoid active region 21872 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 ClinVar PMID:25741868 PMID:28492532
Bardet-Biedl syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTC8 tetratricopeptide repeat domain 8 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 8
ClinVar Annotator: match by term: TTC8-related condition
ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition
OMIM:615985
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 More... NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
Bardet-Biedl syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS9 Bardet-Biedl syndrome 9 IAGP
EXP		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 9
ClinVar Annotator: match by term: BBS9-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 9
ClinVar Annotator: match by term: Retinal vascular dystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 More... NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G LOC129998228 ATAC-STARR-seq lymphoblastoid active region 25835 IAGP ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 ClinVar
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP
EXP		 ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
Combined Pituitary Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:16940453 PMID:25741868 PMID:28492532 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:15928241 PMID:25741868 PMID:27541381 PMID:28492532 PMID:30266296 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:9462743 PMID:9745452 PMID:12519826 PMID:15963055 PMID:18157385 More... NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
Combined Pituitary Hormone Deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 IAGP ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 ClinVar PMID:25741868 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G HESX1 HESX homeobox 1 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1		 ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:28492532 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LHX4 LIM homeobox 4 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1		 ClinVar PMID:25741868 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LHX4-AS1 LHX4 antisense RNA 1 IAGP ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 ClinVar PMID:25741868 NCBI chr 1:180,269,663...180,274,681
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP
EXP		 ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 More... NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
Combined Pituitary Hormone Deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 IAGP ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects		 ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G LHX4 LIM homeobox 4 IAGP
EXP		 ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects		 ClinVar
CTD
OMIM		 PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LHX4-AS1 LHX4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects		 ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr 1:180,269,663...180,274,681
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
Combined Pituitary Hormone Deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HESX1 HESX homeobox 1 IAGP
EXP		 ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 5
ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 PMID:18852528 More... NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
Combined Pituitary Hormone Deficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined or isolated, 8 OMIM
ClinVar		 PMID:25741868 PMID:28402530 PMID:31448886 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHMP2B charged multivesicular body protein 2B IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31755341 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP
EXP		 ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHX3 LIM homeobox 3 IAGP
EXP		 ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
Combined Pituitary Hormone Deficiency, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G LHX4 LIM homeobox 4 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G LHX4-AS1 LHX4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 1:180,269,663...180,274,681
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6		 ClinVar
OMIM		 PMID:17541950 PMID:18728160 PMID:22715480 PMID:25741868 PMID:28492532 More... NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
Culler-Jones syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 IAGP
EXP		 ClinVar Annotator: match by term: Culler-Jones syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:23408573 More... NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
developmental and epileptic encephalopathy 105 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HID1 HID1 domain containing IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism OMIM
ClinVar		 PMID:28600779 PMID:33999436 NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166 		JBrowse link
diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 ISO protein:decreased expression:total kidney membrane fraction (rat) RGD PMID:10919858 RGD:2314654 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G AVP arginine vasopressin treatment IAGP
ISO
EXP		 ClinVar Annotator: match by term: Diabetes insipidus
DNA:deletion:cds:exon B (rat)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:6945054 PMID:15169711 PMID:25741868 PMID:28008190 PMID:8945633 More... RGD:734624, RGD:150429658, RGD:150429657, RGD:2314661, RGD:632128, RGD:2314654 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP protein:decreased expression:serum: RGD PMID:9661594 RGD:7207422 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G GH1 growth hormone 1 IEP protein:decreased expression:serum RGD PMID:6777392 RGD:2315659 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G HAS2 hyaluronan synthase 2 ISO RGD PMID:19496322 RGD:9588637 NCBI chr 8:121,612,116...121,641,440
Ensembl chr 8:121,612,116...121,641,440 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:6258694 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
empty sella syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX1 visual system homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
Familial Isolated Pituitary Adenoma 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: Familial isolated pituitary adenoma ClinVar PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 More... NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 More... NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:25741868 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		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 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
growth hormone secreting pituitary adenoma 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: Somatotroph adenoma ClinVar PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 More... NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 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 GPR101 G protein-coupled receptor 101 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IEP mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G LOC130006204 ATAC-STARR-seq lymphoblastoid active region 5105 IAGP ClinVar Annotator: match by term: Somatotroph adenoma ClinVar NCBI chr11:67,482,868...67,482,927 JBrowse link
G LOC130006205 ATAC-STARR-seq lymphoblastoid active region 5106 IAGP ClinVar Annotator: match by term: Somatotroph adenoma ClinVar NCBI chr11:67,485,075...67,485,124 JBrowse link
G LOC130006206 ATAC-STARR-seq lymphoblastoid active region 5107 IAGP ClinVar Annotator: match by term: Somatotroph adenoma ClinVar PMID:17371465 PMID:18381572 PMID:20457215 PMID:20506337 PMID:20530095 More... NCBI chr11:67,486,875...67,487,174 JBrowse link
G LOC130006207 ATAC-STARR-seq lymphoblastoid active region 5108 IAGP ClinVar Annotator: match by term: Somatotroph adenoma ClinVar NCBI chr11:67,487,345...67,487,424 JBrowse link
G MEN1 menin 1 ISS
IAGP		 OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma		 MouseDO
ClinVar		 PMID:30630164 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
growth hormone secreting pituitary adenoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR101 G protein-coupled receptor 101 IAGP ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 OMIM
ClinVar		 PMID:25470569 PMID:25741868 PMID:25806919 PMID:25806920 PMID:25806921 More... NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Cerebellar cyst ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP
EXP		 ClinVar Annotator: match by term: Holoprosencephaly 9
ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9
ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		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
EXP		 ClinVar Annotator: match by term: Familial hyperprolactinemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 5:6,633,290...6,676,539 		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
hypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Hypopituitarism ClinVar NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G HESX1 HESX homeobox 1 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G LHX3 LIM homeobox 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:21107737 RGD:10449406 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:1304515 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP
ISS		 combined pituitary hormone deficiency,OMIM:262600;DNA:point mutation:exon:R120C
OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986		 MouseDO
RGD		 PMID:9768691 RGD:1601503 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr16:68,358,327...68,448,508
Ensembl chr16:68,358,327...68,448,508 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO RGD PMID:14981518 RGD:1300422 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G TBC1D32 TBC1 domain family member 32 IAGP ClinVar Annotator: match by term: Hypopituitarism ClinVar PMID:25741868 NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745 		JBrowse link
Idiopathic Short Stature, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHR growth hormone receptor IAGP
EXP		 ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL		 ClinVar
CTD
OMIM		 PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IAGP DNA:missense mutation:exon:p.L127P (c.380T>C) (human) RGD PMID:23488611 RGD:12910853 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G LOC107963950 GHR upstream promoter region module A IAGP ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar PMID:25741868 NCBI chr 5:42,422,722...42,425,061 JBrowse link
G SPAG17 sperm associated antigen 17 IAGP DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
inappropriate ADH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVP arginine vasopressin EXP CTD Direct Evidence: marker/mechanism CTD PMID:112579 PMID:6920297 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC108281134 SOX3 promoter region IAGP ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM
ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism		 ClinVar PMID:21289259 PMID:25741868 PMID:28492532 NCBI chr  X:140,504,802...140,505,510 JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP
EXP		 ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM
ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency		 OMIM
ClinVar
CTD		 PMID:8826446 PMID:12428212 PMID:21289259 PMID:23757202 PMID:25741868 More... NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox IAGP ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency		 ClinVar PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
ISO		 DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency		 ClinVar
RGD		 PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 More... RGD:12904703, RGD:1578505 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO
IAGP		 DNA:deletion
ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency
isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X		 ClinVar
RGD		 PMID:9845677 PMID:8528260 RGD:1601338, RGD:1601337 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G HPCA hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 1:32,885,996...32,894,646
Ensembl chr 1:32,885,994...32,898,441 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit IEP protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971 		JBrowse link
G POU1F1 POU class 1 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24480542 PMID:29255062 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239 		JBrowse link
G TG thyroglobulin ISO RGD PMID:11089535 PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
isolated growth hormone deficiency type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive ClinVar PMID:24389050 PMID:25558065 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176 		JBrowse link
G CSHL1 chorionic somatomammotropin hormone like 1 IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:63,909,608...63,911,258
Ensembl chr17:63,909,597...63,911,341 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP DNA:mutation:cds:
ClinVar Annotator: match by term: Pituitary dwarfism 1		 ClinVar
RGD		 PMID:24389050 PMID:25558065 PMID:24389050 RGD:8694132 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1		 ClinVar PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
EXP		 DNA:deletion: :
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2347891 PMID:8364549 PMID:8496314 PMID:8530604 PMID:9152628 More... RGD:12904729 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHRH growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B ClinVar PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 More... NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G POC1A POC1 centriolar protein A IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More... NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: IGHD IB		 ClinVar PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
EXP		 ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: IGHD IB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 More... NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: DWARFISM OF SINDH
ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB		 ClinVar
OMIM		 PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More... NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant		 ClinVar PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
OMIM:173100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G MED13 mediator complex subunit 13 IAGP ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13A ADP ribosylation factor like GTPase 13A IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,969,708...100,990,831
Ensembl chr  X:100,969,708...100,990,831 		JBrowse link
G ARMCX1 armadillo repeat containing X-linked 1 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,550,547...101,554,700
Ensembl chr  X:101,550,547...101,554,700 		JBrowse link
G ARMCX2 armadillo repeat containing X-linked 2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,655,281...101,659,850
Ensembl chr  X:101,655,281...101,659,850 		JBrowse link
G ARMCX3 armadillo repeat containing X-linked 3 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,623,151...101,627,843
Ensembl chr  X:101,622,797...101,627,843 		JBrowse link
G ARMCX3-AS1 ARMCX3 antisense RNA 1 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 Ensembl chr  X:101,622,983...101,624,164 JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,418,278...101,535,988
Ensembl chr  X:101,418,287...101,533,459 		JBrowse link
G ARMCX6 armadillo repeat containing X-linked 6 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,615,125...101,618,000
Ensembl chr  X:101,615,118...101,618,001 		JBrowse link
G BTK Bruton tyrosine kinase IAGP
EXP		 ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G CENPI centromere protein I IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,098,204...101,181,859
Ensembl chr  X:101,098,188...101,166,126 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,820,391...100,841,520
Ensembl chr  X:100,820,391...100,841,520 		JBrowse link
G DRP2 dystrophin related protein 2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,219,786...101,264,502
Ensembl chr  X:101,219,769...101,264,502 		JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133 		JBrowse link
G NOX1 NADPH oxidase 1 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359 		JBrowse link
G NXF5 nuclear RNA export factor 5 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,832,112...101,857,577
Ensembl chr  X:101,832,537...101,843,278
Ensembl chr  X:101,832,537...101,843,278 		JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G RPL36A ribosomal protein L36a IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,391,011...101,396,155
Ensembl chr  X:101,390,824...101,396,155 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G SYTL4 synaptotagmin like 4 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,674,491...100,732,121
Ensembl chr  X:100,671,783...100,732,123 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,268,257...101,293,083
Ensembl chr  X:101,268,253...101,293,057 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TMEM35A transmembrane protein 35A IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:101,078,879...101,096,367
Ensembl chr  X:101,078,879...101,096,367 		JBrowse link
G TNMD tenomodulin IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,584,936...100,599,885
Ensembl chr  X:100,584,936...100,599,885 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,973,366...101,052,111
Ensembl chr  X:101,009,346...101,052,116 		JBrowse link
G TSPAN6 tetraspanin 6 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,627,108...100,637,104
Ensembl chr  X:100,627,108...100,639,991 		JBrowse link
G XKRX XK related X-linked IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:100,886,916...100,959,343
Ensembl chr  X:100,913,445...100,929,433 		JBrowse link
Isolated Growth Hormone Deficiency Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 ClinVar
OMIM		 PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239 		JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHR growth hormone receptor IAGP ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL
ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency		 ClinVar PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GHSR growth hormone secretagogue receptor IAGP ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency
ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency		 ClinVar
OMIM		 PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 More... NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G LOC107963950 GHR upstream promoter region module A IAGP ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL ClinVar PMID:25741868 NCBI chr 5:42,422,722...42,425,061 JBrowse link
Kowarski Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin ClinVar PMID:8530604 PMID:8552145 PMID:9152628 PMID:9276733 PMID:10372722 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G GH1 growth hormone 1 IAGP
EXP		 DNA:point mutation:exon:p.D122G (human)
ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8530604 PMID:8552145 PMID:9152628 PMID:9276733 PMID:10372722 More... RGD:1601313 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
Laurence-Moon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 IAGP
EXP		 ClinVar Annotator: match by term: Laurence-Moon syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1B1 aldo-keto reductase family 1 member B ISO RGD PMID:10913167 RGD:8548674 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284 		JBrowse link
G AQP2 aquaporin 2 IDA
IAGP
ISS
EXP
ISO
IMP		 DNA, protein:mutation, decreased activity::p.V71M (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:insertions:intron
DNA:mutations:multiple:multiple
DNA, protein:mutation, altered localization, decreased activity:kidney:p.D150E,G196D(human)
DNA:mutations:exon:multiple
DNA, protein:mutation, altered localization: :p.E258K(human)
DNA,protein:mutation, altered localization: :p.R254Q(human)
DNA, protein:mutation, decreased secretion: :p.S216F(human)
DNA:mutation:exon:c.298G>A,c.374C>T(human)
protein:altered localization:kidney
protein:decreased activity:kidney
protein:decreased expression:inner renal medulla collecting duct		 ClinVar
MouseDO
CTD
RGD		 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 PMID:9048343 More... RGD:2314285, RGD:734596, RGD:2314325, RGD:2314344, RGD:2314282, RGD:2314306, RGD:2314279, RGD:2314280, RGD:2314281, RGD:2314283, RGD:2314292, RGD:2314303, RGD:2314296, RGD:2314293 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G AQP3 aquaporin 3 (Gill blood group) ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596 		JBrowse link
G AQP5-AS1 AQP5 and AQP2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Nephrogenic diabetes insipidus ClinVar PMID:7524315 PMID:7537761 PMID:9048343 PMID:9550615 PMID:9593782 More... NCBI chr12:49,951,512...49,962,924
Ensembl chr12:49,951,512...49,962,924 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP
ISS
EXP		 DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:1454C>A (p.S329R) (human)
DNA:deletion, missense mutation, nonsense mutation:p.W296X, p.V88M (human)
DNA:missense mutation: :c.262G>A (p.V88M) (human)
DNA:missense mutations: :multiple (human)
DNA:deletion (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1303257 PMID:1303271 PMID:7541187 PMID:7833930 PMID:7913579 More... RGD:2314019, RGD:2314016, RGD:2314017, RGD:2314013, RGD:2314018, RGD:2314015 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka ISO
ISS		 OMIM:125800 | OMIM:304800 MouseDO
RGD		 PMID:9916798 RGD:1300296 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G GRN granulin precursor ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G PRKCA protein kinase C alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:25006961 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743 		JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:19729836 RGD:10003043 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G RNF40 ring finger protein 40 ISO protein:increased expression:kidney (rat) RGD PMID:21734099 RGD:9587431 NCBI chr16:30,761,612...30,776,307
Ensembl chr16:30,761,745...30,776,307 		JBrowse link
G SIRT1 sirtuin 1 ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 ISO protein:increased expression:kidney cortex RGD PMID:12944321 RGD:1600034 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G STIM1 stromal interaction molecule 1 ISO DNA:missense mutation:cds:premature stop codon RGD PMID:26574044 RGD:150429659 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G UOX urate oxidase (pseudogene) ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr 1:84,364,958...84,384,801
Ensembl chr 1:84,365,428...84,397,831 		JBrowse link
nephrogenic diabetes insipidus type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 IAGP ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal ClinVar
OMIM		 PMID:7512890 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 More... NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G AQP5-AS1 AQP5 and AQP2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal ClinVar PMID:7512890 PMID:7524315 PMID:7537761 PMID:9024277 PMID:9048343 More... NCBI chr12:49,951,512...49,962,924
Ensembl chr12:49,951,512...49,962,924 		JBrowse link
nephrogenic syndrome of inappropriate antidiuresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVPR2 arginine vasopressin receptor 2 IAGP
EXP		 ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1303257 PMID:7920187 PMID:7984150 PMID:8037205 PMID:8104196 More... NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
neurohypophyseal diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVP arginine vasopressin IAGP
ISS
EXP
ISO		 DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus
OMIM:125700
ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1740104 PMID:1840604 PMID:3390991 PMID:6132221 PMID:7057320 More... RGD:2301918, RGD:2301917 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		JBrowse link
Pallister-Hall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP
ISS
EXP
ISO		 DNA:frameshift deletions
ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome
OMIM:146510
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple
DNA:deletions		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:6641002 PMID:9054938 PMID:9148633 PMID:9536098 PMID:10441570 More... RGD:1599838, RGD:12738222, RGD:12738205, RGD:12738143 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
Pallister-Hall-like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129999303 ATAC-STARR-seq lymphoblastoid silent region 18626 IAGP ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome ClinVar PMID:25741868
G SMO smoothened, frizzled class receptor IAGP
EXP		 ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome
ClinVar Annotator: match by term: Hypothalamic hamartoma
ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome | ClinVar Annotator: match by term: Hamartoma of the hypothalamus
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30497210 More... NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
panhypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:16940453 PMID:25741868 PMID:28492532 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G OTX2 orthodenticle homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:15928241 PMID:25741868 PMID:27541381 PMID:28492532 PMID:30266296 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP ClinVar Annotator: match by term: Pituitary hormone deficiency, combined
ClinVar Annotator: match by term: Panhypopituitarism		 ClinVar PMID:9462743 PMID:9745452 PMID:9768691 PMID:11549674 PMID:12519826 More... NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
papillary tumor of the pineal region term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Papillary tumor of the pineal region ClinVar PMID:10866302 PMID:11051241 PMID:12614768 PMID:17942903 PMID:21194675 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
pineoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Pineoblastoma ClinVar PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24909177 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVPR1B arginine vasopressin receptor 1B IEP RGD PMID:28692683 RGD:14700668 NCBI chr 1:206,106,936...206,117,388
Ensembl chr 1:206,106,936...206,117,699 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:12036912 RGD:619590 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 IEP mRNA:altered expression:pituitary gland (human) RGD PMID:24169548 RGD:13792706 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
pituitary adenoma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP
EXP		 ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES
ClinVar Annotator: match by term: Pituitary adenoma predisposition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2200621 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17341560 More... NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G LOC130006206 ATAC-STARR-seq lymphoblastoid active region 5107 IAGP ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES ClinVar PMID:17371465 PMID:20457215 PMID:20506337 PMID:21984905 PMID:22720333 More... NCBI chr11:67,486,875...67,487,174 JBrowse link
pituitary adenoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types ClinVar
OMIM		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types ClinVar PMID:25741868 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903 		JBrowse link
pituitary adenoma 5 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 adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types		 OMIM
ClinVar		 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:11138009 PMID:12075507 PMID:16199547 PMID:18429043 PMID:21940737 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:11138009 PMID:21940737 PMID:25741868 PMID:27208204 PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G LOC130006206 ATAC-STARR-seq lymphoblastoid active region 5107 IAGP ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr11:67,486,875...67,487,174 JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520 		JBrowse link
pituitary apoplexy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRH corticotropin releasing hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:12699433 PMID:12699434 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464 		JBrowse link
pituitary carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Pituitary carcinoma ClinVar PMID:7628019 PMID:15256438 PMID:16144131 PMID:16619239 PMID:17557300 More... NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
pituitary gland disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP combined piuitary hormone deficiency;DNA:point mutation:exon:R172X RGD PMID:1302000 RGD:1601432 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
Pituitary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16977796 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:18981426 RGD:8662821 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:16391232 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CLU clusterin treatment ISO RGD PMID:23051594 RGD:8699506 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G DRD2 dopamine receptor D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12727942 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G ESR2 estrogen receptor 2 IEP mRNA:decreased expression:pituitary gland (human) RGD PMID:11081187 RGD:8694115 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19420816 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHRH growth hormone releasing hormone IMP Adenoma; human gene in mouse model RGD PMID:1425411 RGD:5687177 NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G GNAS GNAS complex locus IAGP DNA:missense mutations: :p.201R>C, p.201R>H, p.227Q>R (human) RGD PMID:2549426 RGD:1601376 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO mRNA:decreased expression:pituitary gland (rat) RGD PMID:12716410 RGD:10058970 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1611713 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO RGD PMID:15538938 RGD:1627046 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G MEN1 menin 1 IDA DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland RGD PMID:12030908 RGD:2317360 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G PRKCA protein kinase C alpha IAGP DNA:point mutation:somatic:D294G RGD PMID:8077302 RGD:1601471 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743 		JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2274009 PMID:3498743 PMID:6156259 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PTTG1 PTTG1 regulator of sister chromatid separation, securin ISO RGD PMID:9092795 RGD:68295 NCBI chr 5:160,421,855...160,428,744
Ensembl chr 5:160,421,855...160,428,739 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO RGD PMID:10022766 RGD:8547989 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G SRSF1 serine and arginine rich splicing factor 1 IEP mRNA:increased expression:pituitary gland (human) RGD PMID:23462647 RGD:11038736 NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346 		JBrowse link
Pituitary Stalk Interruption Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:26529631 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G DMXL2 Dmx like 2 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:10521298 PMID:12444097 PMID:25741868 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28717661 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GPR161 G protein-coupled receptor 161 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667 		JBrowse link
G KISS1R KISS1 receptor IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G LHX9 LIM homeobox 9 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 1:197,912,464...197,935,478
Ensembl chr 1:197,911,902...197,935,478 		JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC130003121 ATAC-STARR-seq lymphoblastoid silent region 20625 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 9:137,458,855...137,459,124 JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33270637 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28402530 PMID:30530901 PMID:31448886 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G TBCE tubulin folding cofactor E IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		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 MEN1 menin 1 IAGP ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:25741868 PMID:26307114 PMID:28492532 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		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
prolactinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IEP
EXP		 protein:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16809920 PMID:12552124 RGD:629544 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CEBPD CCAAT enhancer binding protein delta EXP CTD Direct Evidence: marker/mechanism CTD PMID:21980073 NCBI chr 8:47,736,913...47,738,164
Ensembl chr 8:47,736,913...47,738,164 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IEP mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP ClinVar Annotator: match by term: Prolactinoma, familial ClinVar PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G MEN1 menin 1 ISS OMIM:600634 MouseDO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:22635680 RGD:7240531 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G NOG noggin ISO mRNA, protein:decreased expression:pituitary RGD PMID:12552124 RGD:629544 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NPY5R neuropeptide Y receptor Y5 ISO protein:increased expression:pars anterior RGD PMID:11026575 RGD:1625506 NCBI chr 4:163,343,892...163,352,403
Ensembl chr 4:163,343,892...163,351,934 		JBrowse link
G PRL prolactin sexual_dimorphism ISO
IEP
EXP		 DNA, mRNA:mutation, increased expression:pituitary gland
protein:increased expression:blood serum (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:17260475 More... RGD:1642576, RGD:401976454, RGD:401960111 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		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 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
RHYNS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: RHYNS syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa syndrome
ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome		 ClinVar
OMIM		 PMID:2929661 PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 More... NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP1 cytoplasmic FMR1 interacting protein 1 IEP associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr15:22,867,052...22,980,898
Ensembl chr15:22,867,052...22,981,063 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome		 ClinVar
OMIM		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar PMID:25741868 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		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
ISS
EXP
ISO		 ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
OMIM:312870
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... RGD:243065142 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 CIMIP2C ciliary microtubule inner protein 2C IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth 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 DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth 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 overgrowth 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
EXP		 ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 FNDC4 fibronectin type III domain containing 4 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth syndrome ClinVar PMID:28492532 NCBI chr 2:25,295,080...25,295,775 JBrowse link
G LOC129933287 ATAC-STARR-seq lymphoblastoid silent region 11248 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933288 ATAC-STARR-seq lymphoblastoid silent region 11249 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30478443
G LOC129933289 ATAC-STARR-seq lymphoblastoid silent region 11250 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933290 ATAC-STARR-seq lymphoblastoid active region 15445 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:25741868 PMID:28492532 PMID:30478443
G LOC129933291 ATAC-STARR-seq lymphoblastoid silent region 11252 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933292 ATAC-STARR-seq lymphoblastoid active region 15446 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933293 ATAC-STARR-seq lymphoblastoid silent region 11253 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933294 ATAC-STARR-seq lymphoblastoid silent region 11254 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933295 ATAC-STARR-seq lymphoblastoid silent region 11255 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933296 ATAC-STARR-seq lymphoblastoid silent region 11256 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933297 ATAC-STARR-seq lymphoblastoid silent region 11257 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G LOC129933298 ATAC-STARR-seq lymphoblastoid active region 15447 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532
G MAPRE3 microtubule associated protein RP/EB family member 3 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 SPATA31H1 SPATA31 subfamily H member 1 IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth 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 SUPT7L SPT7 like, STAGA complex subunit gamma IAGP ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 overgrowth 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 LOC121852963 NANOG-H3K27ac hESC enhancer GRCh37_chr18:29598110-29598982 IAGP ClinVar Annotator: match by term: Tenorio syndrome
ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:32,018,147...32,019,019 JBrowse link
G RNF125 ring finger protein 125 IAGP
EXP		 ClinVar Annotator: match by term: Tenorio syndrome
ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
EXP		 ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
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
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More... RGD:1599813 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129992166 ATAC-STARR-seq lymphoblastoid silent region 15229 IAGP ClinVar Annotator: match by term: Wolfram syndrome 1 ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More...
G WFS1 wolframin ER transmembrane glycoprotein IAGP
ISS		 ClinVar Annotator: match by term: Wolfram syndrome 1
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300		 OMIM
ClinVar
MouseDO		 PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO
IAGP
EXP		 ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045601, RGD:10045603 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G LOC129992891 ATAC-STARR-seq lymphoblastoid silent region 15602 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868
G LOC129992892 ATAC-STARR-seq lymphoblastoid silent region 15603 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:25371195 PMID:25741868 PMID:28492532 More...
G SLC9B1 solute carrier family 9 member B1 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719 		JBrowse link
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 IAGP DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
X-linked nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 IAGP ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G AQP5-AS1 AQP5 and AQP2 antisense RNA 2 IAGP ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr12:49,951,512...49,962,924
Ensembl chr12:49,951,512...49,962,924 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP
ISS		 ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked
ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked
OMIM:304800		 ClinVar
MouseDO
OMIM		 PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 More... NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
X-linked panhypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC108281134 SOX3 promoter region IAGP ClinVar Annotator: match by term: PITUITARY DWARFISM IV ClinVar PMID:21289259 PMID:25741868 PMID:28492532 NCBI chr  X:140,504,802...140,505,510 JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP
EXP		 ClinVar Annotator: match by term: PITUITARY DWARFISM IV
ClinVar Annotator: match by term: PITUITARY DWARFISM IV | ClinVar Annotator: match by term: Panhypopituitarism, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15800844 PMID:21289259 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            hypothalamic disease 555
              Bardet-Biedl syndrome + 274
              Hypothalamic Obesity + 0
              Laurence-Moon syndrome 1
              Microgastria Limb Reduction Defect 0
              Pallister-Hall-like Syndrome 2
              Pinealoma + 3
              hypothalamic neoplasm + 46
              pituitary gland disease + 283
paths to the root