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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.


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acromegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:3059976 PMID:6237480 PMID:7440347 PMID:9186818 More... NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:9186818 PMID:18381583 PMID:18388193 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		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 ISO 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 chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 PMID:25485838 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666 		JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:25741868 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Tbx19 T-box transcription factor 19 ISO
ISS		 OMIM:201400
ClinVar Annotator: match by term: ACTH deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163 		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 ISO RGD PMID:21696422 RGD:6483520 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		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 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865 		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 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO 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 chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730 		JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108 		JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123 		JBrowse link
G Adgrg5 adhesion G protein-coupled receptor G5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214 		JBrowse link
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15689433 PMID:17594715 PMID:24400638 PMID:25741868 PMID:28492532 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289 		JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318 		JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119 		JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564 		JBrowse link
G Arl6 ADP-ribosylation factor like GTPase 6 ISO 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 chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
G Arl6ip6 ADP ribosylation factor like GTPase 6 interacting protein 6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 3:37,689,994...37,720,358
Ensembl chr 3:37,690,382...37,718,018 		JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188 		JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO 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 chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar
RGD		 PMID:2748677 PMID:5982971 PMID:9536098 PMID:16582908 PMID:16823392 More... RGD:11352646 NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:17160889 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20142850 More... NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO 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 chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 More... NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO 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 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO 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 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO 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 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804 		JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824 		JBrowse link
G Ccdc102a coiled-coil domain containing 102A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657 		JBrowse link
G Ccdc113 coiled-coil domain containing 113 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923 		JBrowse link
G Ccdc28b coiled coil domain containing 28B ISO 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 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370 		JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240 		JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380 		JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897 		JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023 		JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022 		JBrowse link
G Cep290 centrosomal protein 290 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome		 CTD
ClinVar		 PMID:18327255 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Ciapin1 cytokine induced apoptosis inhibitor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503 		JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173 		JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089 		JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297 		JBrowse link
G Cpne2 copine 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292 		JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Dhrs9 dehydrogenase/reductase 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:54,147,834...54,170,052
Ensembl chr 3:54,147,803...54,220,241 		JBrowse link
G Dok4 docking protein 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541 		JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425 		JBrowse link
G Drc7 dynein regulatory complex subunit 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:96,093,327...96,380,502
Ensembl chr14:96,093,327...96,345,332 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270 		JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:118,046,655...118,175,831
Ensembl chr 6:118,046,655...118,175,831 		JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367 		JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445 		JBrowse link
G Gins3 GINS complex subunit 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpha2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:24140113 PMID:25168386 PMID:25741868 PMID:28492532 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29704304 PMID:30761183 NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650 		JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872 		JBrowse link
G Kifc3 kinesin family member C3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672 		JBrowse link
G Klhl41 kelch-like family member 41 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222 		JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652 		JBrowse link
G Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331 		JBrowse link
G Mdh1 malate dehydrogenase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Mir138-2 microRNA 138-2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274 		JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055 		JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO 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 chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO 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 chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mmp15 matrix metallopeptidase 15 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756 		JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049 		JBrowse link
G Mt1 metallothionein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049 		JBrowse link
G Mt1-ps3 metallothionein 1, pseudogene 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135 		JBrowse link
G Mt2A metallothionein 2A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Mt3 metallothionein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Mt4 metallothionein 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195 		JBrowse link
G Ndrg4 NDRG family member 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348 		JBrowse link
G Nlrc5 NLR family, CARD domain containing 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724 		JBrowse link
G Nphp1 nephrocystin 1 ISO RGD PMID:24746959 RGD:11352646 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:15776426 PMID:25741868 PMID:28492532 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401 		JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 4:86,161,642...86,204,656
Ensembl chr 4:86,161,643...86,204,628 		JBrowse link
G Nudt21 nudix hydrolase 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
G Ogfod1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119 		JBrowse link
G Osbpl8 oxysterol binding protein-like 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 More... NCBI chr 7:46,596,944...46,749,888
Ensembl chr 7:46,596,983...46,749,888 		JBrowse link
G Otx1 orthodenticle homeobox 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:96,082,146...96,089,161
Ensembl chr14:96,082,151...96,089,086 		JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561 		JBrowse link
G Peli1 pellino E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,254,274...95,309,168
Ensembl chr14:95,254,589...95,308,285 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Pllp plasmolipin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348 		JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945 		JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416 		JBrowse link
G Prss54 serine protease 54 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835 		JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211 		JBrowse link
G Psme3ip1 proteasome activator subunit 3 interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987 		JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:117,933,066...117,998,095
Ensembl chr 6:117,933,066...117,998,095 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868
Ensembl chr  X:202,405,759...202,413,868 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516 		JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102 		JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604 		JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16199547 PMID:20835237 PMID:21866095 PMID:22190896 PMID:23559409 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536 		JBrowse link
G Setd6 SET domain containing 6, protein lysine methyltransferase ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453 		JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171 		JBrowse link
G Slc38a7 solute carrier family 38, member 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454 		JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247 		JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284 		JBrowse link
G Spmip8 sperm microtubule inner protein 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257 		JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Syvn1 synoviolin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152 		JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182 		JBrowse link
G Tmem67 transmembrane protein 67 ISO 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 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 5:138,559,238...138,572,825
Ensembl chr 5:138,557,754...138,572,819 		JBrowse link
G Trim32 tripartite motif-containing 32 susceptibility ISO 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 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018 		JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:12567324 PMID:19402160 PMID:21209035 PMID:28492532 PMID:31196119 NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 susceptibility ISO 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 chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467 		JBrowse link
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430 		JBrowse link
G Vps54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427 		JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:118,006,420...118,044,480
Ensembl chr 6:118,006,458...118,044,105 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		JBrowse link
G Zfp319 zinc finger protein 319 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198 		JBrowse link
G Zfpl1 zinc finger protein-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487 		JBrowse link
G Znhit2 zinc finger, HIT-type containing 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 More... NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465 		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 ISO 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 chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO
ISS		 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 chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16582908 PMID:17106446 PMID:17980398 PMID:19190184 PMID:20080638 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:17160889 PMID:20498079 PMID:22025579 PMID:22773737 PMID:23591405 More... NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:12524598 PMID:22025579 PMID:24349080 PMID:24793135 PMID:25741868 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:12016587 PMID:20177705 PMID:20498079 PMID:25741868 PMID:28492532 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:15137946 PMID:16199547 PMID:16877420 PMID:21209035 PMID:25741868 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16380913 PMID:20177705 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
G Ccdc28b coiled coil domain containing 28B ISO 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 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:23692385 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of ClinVar PMID:12837689 NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Stx3 syntaxin 3 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO 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 chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		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 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic ClinVar PMID:11285252 PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		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 Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic ClinVar PMID:12567324 PMID:12677556 PMID:20498079 PMID:25741868 PMID:27884173 More... NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO 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 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396 		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 ISO
ISS		 ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic
OMIM:615987
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16582908 PMID:16823392 PMID:17106446 PMID:17576681 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Osbpl8 oxysterol binding protein-like 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 ClinVar PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 More... NCBI chr 7:46,596,944...46,749,888
Ensembl chr 7:46,596,983...46,749,888 		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 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Trim32 tripartite motif-containing 32 ISO 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 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018 		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 ISO 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 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255 		JBrowse link
Bardet-Biedl syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mks1 MKS transition zone complex subunit 1 ISO 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 chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		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 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Tmem67 transmembrane protein 67 ISO 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 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		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 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 More... NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113 		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 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Pde11a phosphodiesterase 11A ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 ClinVar PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:25741868 More... NCBI chr 3:60,913,562...61,297,154
Ensembl chr 3:60,913,562...61,297,158 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO
ISS		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 16
OMIM:615993		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:22190896 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		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 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 ClinVar NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO
ISS		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition
OMIM:615994		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17163542 PMID:17576681 PMID:22510444 PMID:23692385 More... NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Stx3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		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 ISO
ISS		 ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18
OMIM:615995		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:24026985 PMID:25741868 PMID:28492532 More... NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352 		JBrowse link
Bardet-Biedl syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 | ClinVar Annotator: match by term: IFT27-related condition OMIM
ClinVar		 PMID:24488770 PMID:25446516 PMID:25741868 PMID:27894351 PMID:28492532 More... NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416 		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 ISO
ISS		 ClinVar Annotator: match by term: BBS2-related disorder | ClinVar Annotator: match by term: Bardet-Biedl syndrome 2
OMIM:615981
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		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 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic ClinVar PMID:11567139 PMID:20498079 PMID:25741868 PMID:26355662 PMID:27894351 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		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 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic ClinVar PMID:11285252 PMID:11567139 PMID:15666242 PMID:20120035 PMID:20177705 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		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 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 OMIM
ClinVar		 PMID:16199547 PMID:24140113 PMID:24290075 PMID:25168386 PMID:25741868 More... NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 ClinVar PMID:25168386 PMID:25741868 PMID:28492532 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		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 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 21 OMIM
ClinVar		 PMID:22177090 PMID:25515582 PMID:25741868 PMID:26355662 PMID:26854863 More... NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605 		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 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 ClinVar PMID:24290075 PMID:25741868 PMID:28492532 PMID:31587445 PMID:32451492 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27486776 PMID:28492532 More... NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833 		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 ISO
ISS		 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 chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
G Epha6 Eph receptor A6 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 ClinVar PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:27486776 More... NCBI chr11:39,757,501...40,708,901
Ensembl chr11:39,757,181...40,698,311 		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 ISO
ISS		 ClinVar Annotator: match by term: BBS4-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 4
OMIM:615982
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 More... NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		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 ISO
ISS		 ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5
OMIM:615983		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11342895 PMID:15137946 PMID:16199547 PMID:16877420 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829 		JBrowse link
Bardet-Biedl syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkks MKKS centrosomal shuttling protein ISO
ISS		 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 chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		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 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic ClinVar PMID:16582908 PMID:20120035 PMID:20805367 PMID:20876674 PMID:21052717 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		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 ISO ClinVar Annotator: match by term: BBS7-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 More... NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
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 ISO
ISS		 ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition
OMIM:615985
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 More... NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		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 ISO 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		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 More... NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
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 ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		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 ISO ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 ClinVar PMID:25741868 NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311 		JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Hesx1 HESX homeobox 1 ISO 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 chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 More... NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		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 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31755341 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO 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		 OMIM
ClinVar
CTD		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome		 OMIM
CTD
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		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 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311 		JBrowse link
G Lhx4 LIM homeobox 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica		 OMIM
CTD
ClinVar		 PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 5		 CTD
ClinVar		 PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 PMID:18852528 More... NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		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 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311 		JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6 OMIM
ClinVar		 PMID:17541950 PMID:18728160 PMID:22715480 PMID:25741868 PMID:28492532 More... NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		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 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined or isolated, 8 OMIM
ClinVar		 PMID:25741868 PMID:28402530 PMID:31448886 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		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 ISO ClinVar Annotator: match by term: Culler-Jones syndrome | ClinVar Annotator: match by term: GLI2-related disorder OMIM
ClinVar		 PMID:6726521 PMID:9536098 PMID:15994174 PMID:16327884 PMID:17576681 More... NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		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 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism OMIM
ClinVar		 PMID:25741868 PMID:28600779 PMID:33999436 NCBI chr10:100,589,555...100,610,050
Ensembl chr10:100,589,555...100,610,041 		JBrowse link
diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp2 aquaporin 2 IAGP protein:decreased expression:total kidney membrane fraction (rat) RGD PMID:10919858 RGD:2314654 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Avp arginine vasopressin treatment ISO
IAGP
IMP		 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 chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Avpdi arginine vasopressin; diabetes insipidus mutant treatment IAGP
IMP		 DNA:deletion:cds:exon B (rat) RGD PMID:10919858 PMID:6717565 PMID:9396613 PMID:5692127 PMID:13995944 RGD:2314654, RGD:150429658, RGD:150429657, RGD:632128, RGD:2314661
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum: RGD PMID:9661594 RGD:7207422 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Gh1 growth hormone 1 ISO protein:decreased expression:serum RGD PMID:6777392 RGD:2315659 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Has2 hyaluronan synthase 2 IEP RGD PMID:19496322 RGD:9588637 NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6258694 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869 		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 ISO ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:22720333 PMID:24050928 PMID:25741868 PMID:26186299 PMID:26792934 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 More... NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:25741868 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		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 chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		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 ISO ClinVar Annotator: match by term: Somatotroph adenoma ClinVar PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228 		JBrowse link
G Men1 menin 1 ISS
ISO		 OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma		 MouseDO
ClinVar		 PMID:30630164 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		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 ISO 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:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO 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		 OMIM
ClinVar
CTD		 PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		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 IEP protein:increased expression:liver RGD PMID:23486593 RGD:11535162 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595 		JBrowse link
G Drd2 dopamine receptor D2 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286066 PMID:19339912 PMID:26297122 RGD:13506955 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment IMP RGD PMID:20219648 RGD:405878070 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:increased expression:ovary (rat) RGD PMID:2149342 RGD:4889596 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IEP mRNA:increased expression:skin (rat) RGD PMID:8027581 RGD:4889559 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972 		JBrowse link
G Pgr progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344 		JBrowse link
G Prl prolactin IEP
ISO		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:2880862 PMID:2948424 PMID:4001434 PMID:17303669 PMID:17303669 RGD:1642575 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Prlr prolactin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperprolactinemia		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:30575453 NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 treatment IEP RGD PMID:26297122 RGD:13506955 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Th tyrosine hydroxylase treatment IEP protein:increased tyrosine nitration:hypothalamus, median eminence (rat) RGD PMID:21178126 PMID:26297122 RGD:5128768, RGD:13506955 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		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, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Hypopituitarism ClinVar NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Hesx1 HESX homeobox 1 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		JBrowse link
G Lhx3 LIM homeobox 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:21107737 RGD:10449406 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1304515 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO
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 chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO RGD PMID:14981518 RGD:1300422 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Hypopituitarism ClinVar PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415 		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 ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO DNA:missense mutation:exon:p.L127P (c.380T>C) (human) RGD PMID:23488611 RGD:12910853 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:112579 PMID:6920297 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		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 Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM | ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8826446 PMID:12428212 PMID:21289259 PMID:23757202 PMID:25741868 More... NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		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 ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Gh1 growth hormone 1 ISO DNA:deletions: :
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 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO
IAGP		 isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X
ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency
DNA:deletion		 ClinVar
RGD		 PMID:8528260 PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776 		JBrowse link
G Ghsr growth hormone secretagogue receptor IEP mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Hpca hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24480542 PMID:29255062 NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747 		JBrowse link
G Tg thyroglobulin IAGP RGD PMID:11089535 PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tgrdw thyroglobulin; rdw mutant IAGP RGD PMID:11089535 PMID:3366187 RGD:730133, RGD:12880373
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 ISO ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive ClinVar PMID:24389050 PMID:25558065 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399 		JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds: RGD PMID:24389050 RGD:8694132 NCBI chr20:25,661,652...25,690,598
Ensembl chr20:25,662,055...25,716,319 		JBrowse link
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1
CTD Direct Evidence: marker/mechanism
DNA:deletion: :		 OMIM
ClinVar
CTD
RGD		 PMID:2347891 PMID:8364549 PMID:8496314 PMID:8530604 PMID:9152628 More... RGD:12904729 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghrh growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO 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 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More... NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808 		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 Gh1 growth hormone 1 ISO ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Idiopathic growth hormone deficiency | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8496314 PMID:8530604 PMID:9152628 PMID:9385381 PMID:10372722 More... NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB OMIM
ClinVar		 PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More... NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776 		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 Gh1 growth hormone 1 ISO
ISS		 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		 OMIM
ClinVar
MouseDO
CTD		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr10:71,086,978...71,176,535
Ensembl chr10:71,090,516...71,177,242 		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 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Btk Bruton tyrosine kinase ISO 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:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO 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:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		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 ISO ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 OMIM
ClinVar		 PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182 NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747 		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 ISO 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 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency OMIM
ClinVar		 PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 More... NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
Kowarski Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO 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 chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		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 ISO 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 chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		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 B1 ISO RGD PMID:10913167 RGD:8548674 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aqp2 aquaporin 2 ISO
ISS
IEP		 DNA, protein:mutation, decreased activity::p.V71M (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutations:multiple:multiple
DNA:insertions:intron
DNA:mutations:exon:multiple
DNA,protein:mutation, altered localization: :p.R254Q(human)
DNA, protein:mutation, altered localization, decreased activity:kidney:p.D150E,G196D(human)
protein:altered localization:kidney
DNA, protein:mutation,decreased secretion: :p.S216F(human)
protein:decreased expression:inner renal medulla collecting duct
DNA, protein:mutation, altered localization: :p.E258K(human)
DNA:mutation:exon:c.298G>A,c.374C>T(human)
protein:decreased activity:kidney		 ClinVar
MouseDO
CTD
RGD		 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 PMID:9048343 More... RGD:2314285, RGD:734596, RGD:2314344, RGD:2314325, RGD:2314306, RGD:2314280, RGD:2314282, RGD:2314303, RGD:2314281, RGD:2314293, RGD:2314292, RGD:2314279, RGD:2314283, RGD:2314296 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO
ISS		 DNA:deletion, missense mutation, nonsense mutation:p.W296X, p.V88M (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple (human)
DNA:missense mutation: :c.262G>A (p.V88M) (human)
DNA:mutations: :multiple (human)
DNA:deletion (human)
DNA:mutation:exon:1454C>A (p.S329R) (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1303257 PMID:1303271 PMID:7541187 PMID:7833930 PMID:7913579 More... RGD:2314017, RGD:2314018, RGD:2314013, RGD:2314019, RGD:2314015, RGD:2314016 NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO
ISS		 OMIM:125800 | OMIM:304800 MouseDO
RGD		 PMID:9916798 RGD:1300296 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Grn granulin precursor ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Prkca protein kinase C, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25006961 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:19729836 RGD:10003043 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Rnf40 ring finger protein 40 IEP protein:increased expression:kidney (rat) RGD PMID:21734099 RGD:9587431 NCBI chr 1:182,202,475...182,217,899
Ensembl chr 1:182,202,600...182,217,241 		JBrowse link
G Sirt1 sirtuin 1 ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 IDA protein:increased expression:kidney cortex RGD PMID:12944321 RGD:1600034 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		JBrowse link
G Stim1 stromal interaction molecule 1 IAGP DNA:missense mutation:cds:premature stop codon RGD PMID:26574044 RGD:150429659 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		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 ISO ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal OMIM
ClinVar		 PMID:7512890 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 More... NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis		 OMIM
CTD
ClinVar		 PMID:1303257 PMID:7920187 PMID:7984150 PMID:8037205 PMID:8104196 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		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 ISO
ISS
IEP		 DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus
OMIM:125700
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 chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		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 ISO
ISS		 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
DNA:mutations:exon, intron:multiple
DNA:deletions
CTD Direct Evidence: marker/mechanism		 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 chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
Pallister-Hall-like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome | ClinVar Annotator: match by term: Hamartoma of the hypothalamus | ClinVar Annotator: match by term: Hypothalamic hamartoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30497210 More... NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
panhypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:16940453 PMID:25741868 PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:15928241 PMID:22010633 PMID:25741868 PMID:27541381 PMID:28492532 More... NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:9462743 PMID:9745452 PMID:12519826 PMID:15963055 PMID:18157385 More... NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		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 ISO ClinVar Annotator: match by term: Papillary tumor of the pineal region ClinVar PMID:10866302 PMID:11051241 PMID:12614768 PMID:17942903 PMID:21194675 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		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 ISO ClinVar Annotator: match by term: Pineoblastoma ClinVar PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24909177 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		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 ISO RGD PMID:28692683 RGD:14700668 NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP RGD PMID:12036912 RGD:619590 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:12036912 RGD:619590
G Grk2 G protein-coupled receptor kinase 2 ISO mRNA:altered expression:pituitary gland (human) RGD PMID:24169548 RGD:13792706 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		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 ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma predisposition OMIM
ClinVar		 PMID:2200621 PMID:16728643 PMID:17244780 PMID:17341560 PMID:17360484 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		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 ISO ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types OMIM
ClinVar		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		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 ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO 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 chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12699433 PMID:12699434 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		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 ISO ClinVar Annotator: match by term: Pituitary carcinoma ClinVar PMID:7628019 PMID:15256438 PMID:16144131 PMID:16619239 PMID:17557300 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO combined piuitary hormone deficiency;DNA:point mutation:exon:R172X RGD PMID:1302000 RGD:1601432 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
Pituitary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16977796 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:18981426 RGD:8662821 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391232 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Clu clusterin treatment ISO RGD PMID:23051594 RGD:8699506 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12727942 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Esr2 estrogen receptor 2 ISO mRNA:decreased expression:pituitary gland (human) RGD PMID:11081187 RGD:8694115 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19420816 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghrh growth hormone releasing hormone ISO Adenoma; human gene in mouse model RGD PMID:1425411 RGD:5687177 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Gnas GNAS complex locus ISO DNA:missense mutations: :p.201R>C, p.201R>H, p.227Q>R (human) RGD PMID:2549426 RGD:1601376 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K IEP mRNA:decreased expression:pituitary gland (rat) RGD PMID:12716410 RGD:10058970 NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer IDA RGD PMID:15538938 RGD:1627046 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Men1 menin 1 ISO DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland RGD PMID:12030908 RGD:2317360 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Prkca protein kinase C, alpha ISO DNA:point mutation:somatic:D294G RGD PMID:8077302 RGD:1601471 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2274009 PMID:3498743 PMID:6156259 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin IMP RGD PMID:9092795 RGD:68295 NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837 		JBrowse link
G Rb1 RB transcriptional corepressor 1 IEP RGD PMID:10022766 RGD:8547989 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO mRNA:increased expression:pituitary gland (human) RGD PMID:23462647 RGD:11038736 NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336 		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 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:26529631 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:10521298 PMID:12444097 PMID:25741868 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28717661 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gpr161 G protein-coupled receptor 161 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 NCBI chr13:77,578,257...77,623,661
Ensembl chr13:77,577,739...77,619,613 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Lhx9 LIM homeobox 9 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr13:50,389,052...50,409,947
Ensembl chr13:50,389,738...50,410,806 		JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33270637 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28402530 PMID:30530901 PMID:31448886 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		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 ISO ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:7737262 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:25741868 PMID:26307114 PMID:28492532 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16809932 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16809932 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Scg5 secretogranin V ISS MouseDO NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary dependent hypercortisolism		 CTD
ClinVar		 PMID:25485838 PMID:25675982 PMID:25741868 PMID:25942478 PMID:28492532 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666 		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
ISO		 protein:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16809920 PMID:12552124 RGD:629544 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cebpd CCAAT/enhancer binding protein delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21980073 NCBI chr11:84,764,670...84,765,808
Ensembl chr11:84,764,565...84,765,829 		JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Prolactinoma ClinVar PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Men1 menin 1 ISS OMIM:600634 MouseDO NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IEP mRNA:increased expression:pituitary gland (rat) RGD PMID:22635680 RGD:7240531 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nog noggin ISO mRNA, protein:decreased expression:pituitary RGD PMID:12552124 RGD:629544 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Npy5r neuropeptide Y receptor Y5 IEP protein:increased expression:pars anterior RGD PMID:11026575 RGD:1625506 NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382 		JBrowse link
G Prl prolactin sexual_dimorphism IEP
ISO
IAGP		 mRNA:increased expression:pituitary gland
protein:increased expression:blood serum (human)
CTD Direct Evidence: marker/mechanism
DNA:mutation		 CTD
RGD		 PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:17260475 More... RGD:1642576, RGD:401976454, RGD:401960111, RGD:1642576 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Rahman syndrome OMIM
ClinVar		 PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 More... NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403 		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 ISO ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		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 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome OMIM
ClinVar		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar PMID:25741868 NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		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 ISO
ISS		 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		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... RGD:243065142 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:104,653,306...104,662,069
Ensembl chr 4:104,653,155...104,668,310 		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 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,422,526...25,427,514
Ensembl chr 6:25,422,526...25,427,514 		JBrowse link
G Adcy3 adenylate cyclase 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686 		JBrowse link
G Adgrf3 adhesion G protein-coupled receptor F3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,133,176...26,144,601
Ensembl chr 6:26,133,192...26,144,601 		JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738 		JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477 		JBrowse link
G Atraid all-trans retinoic acid-induced differentiation factor ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,315,236...25,319,821 JBrowse link
G Babam2 BRISC and BRCA1 A complex member 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,369,021...24,788,416
Ensembl chr 6:24,369,022...24,833,951 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Ccdc121 coiled-coil domain containing 121 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,970,845...24,973,451
Ensembl chr 6:24,970,833...24,973,478 		JBrowse link
G Cenpa centromere protein A ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,700,142...25,711,767
Ensembl chr 6:25,700,142...25,711,675 		JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,203,642...27,218,394
Ensembl chr 6:27,188,537...27,218,314 		JBrowse link
G Cgref1 cell growth regulator with EF hand domain 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,431,846...25,443,853
Ensembl chr 6:25,431,799...25,443,852 		JBrowse link
G Cib4 calcium and integrin binding family member 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,842,605...25,903,509
Ensembl chr 6:25,842,622...25,917,206 		JBrowse link
G Cimip2c ciliary microtubule inner protein 2C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,905,294...25,923,615
Ensembl chr 6:25,905,294...25,923,615 		JBrowse link
G Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,068,713...27,098,449
Ensembl chr 6:27,068,686...27,098,449 		JBrowse link
G Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,260,087...25,264,251
Ensembl chr 6:25,260,088...25,264,152 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome | ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome OMIM
ClinVar		 PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 More... NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414 		JBrowse link
G Dtnb dystrobrevin, beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:26,566,418...26,763,467
Ensembl chr 6:26,566,925...26,766,335 		JBrowse link
G Efr3b EFR3 homolog B ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:26,947,436...27,021,113
Ensembl chr 6:26,948,540...27,020,933 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829 		JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698 		JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034 		JBrowse link
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762 		JBrowse link
G Gckr glucokinase regulator ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654 		JBrowse link
G Gpn1 GPN-loop GTPase 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,947,350...24,965,025
Ensembl chr 6:24,947,325...24,965,031 		JBrowse link
G Gtf3c2 general transcription factor IIIC subunit 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,196,439...25,221,338
Ensembl chr 6:25,197,268...25,220,490 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
G Khk ketohexokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717 		JBrowse link
G Kif3c kinesin family member 3C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		JBrowse link
G Mapre3 microtubule-associated protein, RP/EB family, member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,513,800...25,558,876
Ensembl chr 6:25,513,800...25,558,881 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Mrpl33 mitochondrial ribosomal protein L33 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,825,800...24,833,994
Ensembl chr 6:24,825,827...24,833,834 		JBrowse link
G Ncoa1 nuclear receptor coactivator 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664 		JBrowse link
G Nrbp1 nuclear receptor binding protein 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,122,635...25,133,209
Ensembl chr 6:25,122,635...25,133,182 		JBrowse link
G Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,471,254...25,472,478 JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Plb1 phospholipase B1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,087,051...24,227,167
Ensembl chr 6:24,089,214...24,210,117 		JBrowse link
G Pomc proopiomelanocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ppm1g protein phosphatase, Mg2+/Mn2+ dependent, 1G ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,153,556...25,173,763
Ensembl chr 6:25,153,556...25,173,761 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		JBrowse link
G Preb prolactin regulatory element binding ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,418,805...25,422,594
Ensembl chr 6:25,418,776...25,422,590 		JBrowse link
G Prr30 proline rich 30 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,415,069...25,417,582
Ensembl chr 6:25,414,868...25,417,585 		JBrowse link
G Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805 		JBrowse link
G Rab10 RAB10, member RAS oncogene family ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,267,081...26,319,739
Ensembl chr 6:26,266,859...26,320,193 		JBrowse link
G Rbks ribokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290 		JBrowse link
G Selenoi selenoprotein I ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314 		JBrowse link
G Slc30a3 solute carrier family 30 member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,264,310...25,284,720
Ensembl chr 6:25,275,528...25,284,720 		JBrowse link
G Slc35f6 solute carrier family 35, member F6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,725,822...25,737,720
Ensembl chr 6:25,725,819...25,737,730 		JBrowse link
G Slc4a1ap solute carrier family 4 member 1 adaptor protein ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,905,941...24,933,651
Ensembl chr 6:24,905,941...24,933,815 		JBrowse link
G Slc5a6 solute carrier family 5 member 6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,319,187...25,331,713
Ensembl chr 6:25,320,442...25,331,712 		JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,177,528...25,183,001
Ensembl chr 6:25,177,391...25,183,030 		JBrowse link
G Spata31h1 SPATA31 subfamily H member 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,023,718...25,040,928 JBrowse link
G Supt7l SPT7 like, STAGA complex subunit gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,933,941...24,944,656
Ensembl chr 6:24,933,923...24,944,654 		JBrowse link
G Tcf23 transcription factor 23 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,397,889...25,406,639
Ensembl chr 6:25,397,937...25,405,880 		JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444 		JBrowse link
G Trim54 tripartite motif-containing 54 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511 		JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
G Zfp512 zinc finger protein 512 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,976,903...25,007,913
Ensembl chr 6:24,976,906...25,007,819 		JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439 		JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar		 PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chr18:12,254,066...12,275,719
Ensembl chr18:12,253,852...12,275,983 		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 ISO ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399 		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 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More... RGD:1599813 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO
ISS		 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 chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045603, RGD:10045601 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946 		JBrowse link
G Cisd3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406 		JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179 		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 ISO DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		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 ISO ClinVar Annotator: match by term: Diabetes insipidus nephrogenic X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO
ISS		 ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked
OMIM:304800		 OMIM
ClinVar
MouseDO		 PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
X-linked panhypopituitarism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO 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:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      nervous system disease 14266
        central nervous system disease 12594
          brain disease 11821
            hypothalamic disease 507
              Bardet-Biedl syndrome + 235
              Hypothalamic Obesity + 0
              Laurence-Moon syndrome 1
              Microgastria Limb Reduction Defect 0
              Pallister-Hall-like Syndrome 1
              Pinealoma + 3
              hypothalamic neoplasm + 62
              pituitary gland disease + 274
paths to the root