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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:thalamic disease
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Accession:DOID:4662 term browser browse the term
Definition:Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, MOVEMENT DISORDERS; ATAXIA, pain syndromes, visual disorders, a variety of neuropsychological conditions, and COMA. Relatively common etiologies include CEREBROVASCULAR DISORDERS; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; BRAIN HYPOXIA; INTRACRANIAL HEMORRHAGES; and infectious processes.
Synonyms:exact_synonym: Dejerine Roussy Syndrome;   Thalamic Syndrome;   Thalamic Syndromes;   thalamic diseases
 primary_id: MESH:D013786;   RDO:0002108
 xref: NCI:C85186
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
acromegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:3059976 PMID:6237480 PMID:7440347 PMID:9186818 PMID:18381583 PMID:18388193 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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 4, ACTH-SECRETING
CTD
ClinVar
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:48,390,434...48,400,583
Ensembl chr13:48,390,417...48,400,632
Ensembl chr13:48,390,417...48,400,632
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:25485838 NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 PMID:28492532 PMID:30576320 PMID:31273949 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2830787 PMID:11290323 PMID:12651888 PMID:15476446 PMID:16390921 PMID:17652218 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:17492394 PMID:18544103 PMID:19877185 PMID:20069065 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25133958 PMID:25326637 PMID:25388789 PMID:25741868 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29529044 PMID:30311386 PMID:32567228 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
Bardet-Biedl syndrome 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 ClinVar NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
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 Annotator: match by OMIM:209900
ClinVar PMID:7987310 PMID:8298649 PMID:15258860 PMID:25741868, PMID:15314642 RGD:1578724 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
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 PMID:16606853 PMID:17994549 PMID:19303295 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:23541687 PMID:24033266 PMID:25351777 PMID:25741868 PMID:26467025 PMID:27491411 PMID:28492532 PMID:30823891 NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
ClinVar Annotator: match by OMIM:209900
ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 PMID:12677556 PMID:12837689 PMID:12872256 PMID:12920096 PMID:15314642 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16877420 PMID:17003356 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18327255 PMID:18669544 PMID:18766993 PMID:20120035 PMID:20177705 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23432027 PMID:23559858 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24611592 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25741868 PMID:25780760 PMID:26261414 PMID:26467025 PMID:26518167 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27486776 PMID:27659767 PMID:27788217 PMID:27884173 PMID:27894351 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29099798 PMID:29191167 PMID:29264490 PMID:29588463 PMID:30259503 PMID:30614526 PMID:30718709 PMID:32165824 PMID:32451492 PMID:33532864, PMID:12524598 RGD:1579969 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:5982971 PMID:16582908 PMID:16823392 PMID:17106446 PMID:17980398 PMID:19190184 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21052717 PMID:21157496 PMID:21209035 PMID:21344540 PMID:21517826 PMID:21642631 PMID:22353939 PMID:22410627 PMID:22773737 PMID:22958920 PMID:22995991 PMID:23591405 PMID:24033266 PMID:24041679 PMID:24400638 PMID:24488770 PMID:24611592 PMID:24746959 PMID:25133751 PMID:25326635 PMID:25366773 PMID:25412400 PMID:25741868 PMID:25982971 PMID:26003401 PMID:26467025 PMID:27032803 PMID:27245532 PMID:27385962 PMID:27449316 PMID:27486776 PMID:27533158 PMID:27659767 PMID:27788217 PMID:27959697 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28808579 PMID:29806606 PMID:30614526 PMID:30718709 PMID:31639430 PMID:32361989, PMID:24746959 RGD:11352646 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:17160889 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 PMID:20498079 PMID:20827784 PMID:21209035 PMID:21344540 PMID:21642631 PMID:22025579 PMID:22410627 PMID:22773737 PMID:23591405 PMID:24611592 PMID:25133751 PMID:25170860 PMID:25741868 PMID:25780760 PMID:25982971 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
DNA:missense, deletion, nonsense mutations:cds:
ClinVar PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 PMID:12016587 PMID:12524598 PMID:12837689 PMID:12920096 PMID:14520415 PMID:15666242 PMID:16199547 PMID:16877420 PMID:16909204 PMID:17576681 PMID:19402160 PMID:19797195 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21157496 PMID:21344540 PMID:21463199 PMID:21642631 PMID:22025579 PMID:22401627 PMID:22410627 PMID:22773737 PMID:23432027 PMID:23829372 PMID:24033266 PMID:24349080 PMID:24608809 PMID:24793135 PMID:25133751 PMID:25170860 PMID:25412400 PMID:25525159 PMID:25533962 PMID:25541840 PMID:25611614 PMID:25741868 PMID:25988237 PMID:25999675 PMID:26078953 PMID:26325687 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27032803 PMID:27353947 PMID:27659767 PMID:27708425 PMID:27894351 PMID:28143435 PMID:28374938 PMID:28387813 PMID:28418496 PMID:28492532 PMID:28559085 PMID:28717663 PMID:28800606 PMID:29588463 PMID:30029678 PMID:30293640 PMID:30614526 PMID:30718709 PMID:31054281 PMID:31960602 PMID:32436246, PMID:11285252 RGD:70665 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by OMIM:209900
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 PMID:12524598 PMID:12872256 PMID:15654695 PMID:16199547 PMID:17558852 PMID:17576681 PMID:19402160 PMID:19858128 PMID:20177705 PMID:20498079 PMID:21344540 PMID:24849935 PMID:25741868 PMID:27208204 PMID:27486776 PMID:27894351 PMID:28492532 PMID:30614526 PMID:30718709 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
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 Annotator: match by OMIM:209900
ClinVar PMID:9536098 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 PMID:18203199 PMID:20498079 PMID:21209035 PMID:21344540 PMID:22626039 PMID:25741868 PMID:26325687 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 PMID:30614526 PMID:30718709, PMID:15137946 RGD:1579974 NCBI chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:9536098 PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 PMID:19402160 PMID:19797195 PMID:20498079 PMID:21209035 PMID:21344540 PMID:21642631 PMID:22302990 PMID:22500027 PMID:23572516 PMID:23847139 PMID:25553308 PMID:25741868 PMID:26325687 PMID:27486776 PMID:28492532 PMID:29970488 PMID:30614526 PMID:30718709 PMID:31196119, PMID:12567324 RGD:1579975 NCBI chr 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:9536098 PMID:16380913 PMID:17576681 PMID:20177705 PMID:20603001 PMID:22353939 PMID:22500027 PMID:23160099 PMID:23757202 PMID:24746959 PMID:24849935 PMID:25741868 PMID:26355662 PMID:27708425 PMID:28492532 PMID:29096039 PMID:29970488 PMID:30614526 PMID:30718709, PMID:16380913 RGD:9684996 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
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 PMID:12677556 PMID:16327777 PMID:29127258, PMID:16327777 RGD:9685059 NCBI chr 5:147,823,446...147,828,449
Ensembl chr 5:147,823,447...147,828,449
JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr11:71,921,713...71,938,335
Ensembl chr11:71,921,716...71,938,165
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18327255 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:106,871,426...107,160,224
Ensembl chr14:106,871,430...107,160,334
JBrowse link
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,768,939...122,898,046
Ensembl chr 6:122,770,055...122,897,997
JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr12:4,546,240...4,546,871 JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:93,112,781...93,130,135
Ensembl chr 9:93,112,805...93,125,014
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:24033266 PMID:24140113 PMID:25168386 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:16199547 PMID:24488770 PMID:25446516 PMID:28492532 PMID:29704304 PMID:30761183 NCBI chr 7:119,393,384...119,409,710
Ensembl chr 7:119,393,384...119,409,710
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO Bardet-Biedl syndrome 6 (BBS6)
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar Annotator: match by OMIM:209900
ClinVar PMID:2896767 PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20142850 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20502701 PMID:21209035 PMID:22353939 PMID:22446187 PMID:22500027 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26900326 PMID:27491411 PMID:28492532 PMID:29127258 PMID:30614526 PMID:30718709, PMID:15483080, PMID:10973251 RGD:1601414, RGD:1581208 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
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
PMID:18327255 PMID:25741868 PMID:28492532, PMID:18327255 RGD:11070512 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nphp1 nephrocystin 1 ISO RGD PMID:24746959 RGD:11352646 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Otx1 orthodenticle homeobox 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:106,861,556...106,864,933
Ensembl chr14:106,861,676...106,864,892
JBrowse link
G Peli1 pellino E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:106,008,086...106,062,566
Ensembl chr14:106,008,086...106,061,641
JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:29127258 NCBI chr 9:93,080,618...93,155,033
Ensembl chr 9:93,080,615...93,155,027
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 6:122,656,500...122,721,496
Ensembl chr 6:122,656,500...122,721,496
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:25741868 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 8:23,450,111...23,482,939
Ensembl chr 8:23,450,111...23,482,939
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:20835237 PMID:25741868 PMID:28492532 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
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
PMID:16415887 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19574260 PMID:20232449 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532, PMID:18327255 RGD:11070512 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Trappc3 trafficking protein particle complex subunit 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr 5:144,281,720...144,295,306
Ensembl chr 5:144,281,614...144,295,331
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 PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID:19303295 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:23541687 PMID:24033266 PMID:25351777 PMID:25741868 PMID:26467025 PMID:27491411 PMID:28492532 PMID:30823891, PMID:16606853 RGD:1624129 NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
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 PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 PMID:19797195 PMID:21044901 PMID:21052717 PMID:24033266 PMID:25097241 PMID:25741868 PMID:28492532 PMID:30718709 PMID:30886724 PMID:31736247, PMID:14520415 RGD:1624198 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr14:106,153,407...106,207,715
Ensembl chr14:106,153,575...106,207,658
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 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:29588463 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome ClinVar PMID:28492532 NCBI chr 6:122,729,834...122,767,462
Ensembl chr 6:122,729,874...122,767,462
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bardet-Biedl syndrome
ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16877420 PMID:17003356 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20177705 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21517826 PMID:21642631 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23432027 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26518167 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27486776 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29099798 PMID:29264490 PMID:30259503 PMID:30614526 PMID:30718709 PMID:32165824 PMID:32451492 PMID:33532864 NCBI chr 1:220,137,280...220,143,387
Ensembl chr 1:220,137,257...220,144,319
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, modifier of ClinVar
OMIM
PMID:9714014 PMID:15314642 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:24026985 NCBI chr 1:274,649,085...274,663,544
Ensembl chr 1:274,649,490...274,650,363
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1
ClinVar Annotator: match by term: Bardet-Biedl syndrome type 1
ClinVar
OMIM
PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 PMID:12677556 PMID:12837689 PMID:12872256 PMID:12920096 PMID:15314642 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16582908 PMID:16877420 PMID:17003356 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18327255 PMID:18669544 PMID:18766993 PMID:19797195 PMID:20120035 PMID:20177705 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21258341 PMID:21344540 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22353939 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:23143442 PMID:23432027 PMID:23559858 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25741868 PMID:26261414 PMID:26467025 PMID:26518167 PMID:26566502 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27659767 PMID:27788217 PMID:27884173 PMID:27894351 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28559085 PMID:29191167 PMID:29264490 PMID:29588463 PMID:30259503 PMID:30484961 PMID:30614526 PMID:30718709 PMID:32165824 PMID:32451492 PMID:33532864 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16582908 PMID:17106446 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:21044901 PMID:21209035 PMID:21642631 PMID:22773737 PMID:23591405 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25366773 PMID:25741868 PMID:25982971 PMID:26467025 PMID:27385962 PMID:27449316 PMID:27486776 PMID:28041643 PMID:28492532 PMID:30614526 PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:22025579 PMID:22773737 PMID:25741868 PMID:25780760 PMID:28492532 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
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 PMID:26467025 PMID:28492532 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
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 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:16380913 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
JBrowse link
G Ccdc28b coiled coil domain containing 28B ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of OMIM
ClinVar
PMID:12677556 PMID:16327777 PMID:29127258 NCBI chr 5:147,823,446...147,828,449
Ensembl chr 5:147,823,447...147,828,449
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 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839
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 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link
G Stx3 syntaxin 3 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 1:228,137,781...228,195,004
Ensembl chr 1:228,149,867...228,194,977
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26216965 RGD:11532386 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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 chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 ClinVar PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16582908 PMID:16877420 PMID:17003356 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20177705 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21258341 PMID:21344540 PMID:21517826 PMID:21642631 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:23143442 PMID:23432027 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26518167 PMID:26566502 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28559085 PMID:29264490 PMID:30259503 PMID:30484961 PMID:30614526 PMID:30718709 PMID:32165824 PMID:32451492 PMID:33532864 NCBI chr 1:220,137,280...220,143,387
Ensembl chr 1:220,137,257...220,144,319
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 PMID:21344540 PMID:21642631 PMID:22410627 PMID:23829372 PMID:24608809 PMID:25541840 PMID:25741868 PMID:26518167 PMID:28492532 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
Bardet-Biedl Syndrome 1/7, Digenic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic ClinVar PMID:12567324 PMID:20498079 PMID:21642631 PMID:22500027 PMID:23572516 PMID:28492532 NCBI chr 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
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 ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 ClinVar
OMIM
PMID:16582908 PMID:16823392 PMID:17106446 PMID:17980398 PMID:19190184 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21052717 PMID:21157496 PMID:21209035 PMID:21344540 PMID:21463199 PMID:21517826 PMID:21642631 PMID:22353939 PMID:22410627 PMID:22773737 PMID:22958920 PMID:22995991 PMID:23591405 PMID:24033266 PMID:24041679 PMID:24400638 PMID:24488770 PMID:24611592 PMID:24746959 PMID:25133751 PMID:25170860 PMID:25326635 PMID:25366773 PMID:25412400 PMID:25741868 PMID:25982971 PMID:25988237 PMID:26003401 PMID:26467025 PMID:26518167 PMID:27032803 PMID:27245532 PMID:27385962 PMID:27449316 PMID:27486776 PMID:27533158 PMID:27659767 PMID:27788217 PMID:27959697 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28808579 PMID:29806606 PMID:30614526 PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
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 PMID:16606853 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:81,179,614...82,168,528
Ensembl chr 5:81,179,605...82,168,427
JBrowse link
G Trim32 tripartite motif-containing 32 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 OMIM
ClinVar
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:81,431,554...81,449,023
Ensembl chr 5:81,431,600...81,442,451
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: Bardet-Biedl syndrome 12 ClinVar
OMIM
PMID:17160889 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 PMID:20498079 PMID:20648243 PMID:20827784 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22025579 PMID:22410627 PMID:22773737 PMID:23591405 PMID:24611592 PMID:25133751 PMID:25741868 PMID:25780760 PMID:25982971 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 PMID:33532864 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
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 ClinVar
OMIM
PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:18327255 PMID:18414213 PMID:19430481 PMID:19466712 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28981474 PMID:30718709 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
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 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17576681 PMID:17617513 PMID:18327255 PMID:18414213 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23351400 PMID:24265693 PMID:25097241 PMID:25377065 PMID:25741868 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:28492532 PMID:28497568 PMID:28559085 PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of OMIM
ClinVar
PMID:17397051 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:29127258 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:32860008 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
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:28492532 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
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:24033266 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 3:62,818,502...63,211,843
Ensembl chr 3:62,818,502...63,211,845
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 OMIM
ClinVar
PMID:16199547 PMID:20835237 PMID:22190896 PMID:22626039 PMID:23188109 PMID:25741868 PMID:28492532 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
Bardet-Biedl syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by OMIM:615994
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17
ClinVar
OMIM
PMID:22510444 PMID:23692385 PMID:25741868 NCBI chr 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839
JBrowse link
G Stx3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 1:228,137,781...228,195,004
Ensembl chr 1:228,149,867...228,194,977
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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 ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 18
ClinVar Annotator: match by term: Bardet-Biedl syndrome 18
ClinVar
OMIM
PMID:24026985 PMID:25741868 PMID:28492532 NCBI chr 1:274,649,085...274,663,544
Ensembl chr 1:274,649,490...274,650,363
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
OMIM
PMID:24488770 NCBI chr 7:119,393,384...119,409,710
Ensembl chr 7:119,393,384...119,409,710
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 ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 ClinVar
OMIM
PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:14520415 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16582908 PMID:16823392 PMID:16877420 PMID:16909204 PMID:17576681 PMID:19402160 PMID:19797195 PMID:20120035 PMID:20177705 PMID:20498079 PMID:20618352 PMID:21052717 PMID:21157496 PMID:21344540 PMID:21463199 PMID:21642631 PMID:22025579 PMID:22353939 PMID:22401627 PMID:22410627 PMID:22773737 PMID:22981120 PMID:23432027 PMID:23829372 PMID:24033266 PMID:24154662 PMID:24349080 PMID:24608809 PMID:24793135 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25533962 PMID:25541840 PMID:25611614 PMID:25741868 PMID:25988237 PMID:25999675 PMID:26078953 PMID:26325687 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27032803 PMID:27058611 PMID:27353947 PMID:27659767 PMID:27708425 PMID:27894351 PMID:28005958 PMID:28143435 PMID:28374938 PMID:28387813 PMID:28418496 PMID:28492532 PMID:28559085 PMID:28800606 PMID:29588463 PMID:30029678 PMID:30293640 PMID:30718709 PMID:31960602 PMID:32436246 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
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:26355662 PMID:27894351 PMID:28492532 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
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 PMID:20498079 PMID:21344540 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
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 PMID:20498079 PMID:22446187 PMID:25741868 PMID:25982971 PMID:28492532 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
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 ClinVar PMID:28492532 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 OMIM
ClinVar
PMID:25741868 PMID:27486776 NCBI chr 5:113,579,065...113,682,485
Ensembl chr 5:113,592,919...113,682,484
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
ClinVar Annotator: match by term: Bardet-Biedl syndrome 21
ClinVar
OMIM
PMID:22177090 PMID:25741868 PMID:26355662 PMID:26854863 PMID:27008867 PMID:29127258 NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
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 ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 ClinVar
OMIM
PMID:7987310 PMID:8298649 PMID:9536098 PMID:9714014 PMID:15258860 PMID:15314642 PMID:16199547 PMID:17160889 PMID:17576681 PMID:19236846 PMID:19858128 PMID:20142850 PMID:20177705 PMID:23219996 PMID:25741868 PMID:27486776 PMID:28041643 PMID:28492532 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
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:27486776 PMID:28492532 NCBI chr11:41,867,607...42,843,800 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 ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 ClinVar
OMIM
PMID:388431 PMID:7711739 PMID:11381270 PMID:12016587 PMID:12524598 PMID:12872256 PMID:15654695 PMID:15666242 PMID:16199547 PMID:19858128 PMID:20498079 PMID:21344540 PMID:25741868 PMID:26518167 PMID:27208204 PMID:27486776 PMID:28492532 PMID:29039417 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
JBrowse link
G Higd2al1 HIG1 hypoxia inducible domain family, member 2A-like 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 ClinVar PMID:25741868 NCBI chr12:4,546,240...4,546,871 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 ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 ClinVar
OMIM
PMID:15137946 PMID:16199547 PMID:18203199 PMID:21209035 PMID:22626039 PMID:25741868 PMID:26325687 PMID:28492532 PMID:30718709 NCBI chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
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 ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 ClinVar
OMIM
PMID:9536098 PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15637713 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20177705 PMID:20472660 PMID:20498079 PMID:22446187 PMID:22500027 PMID:25741868 PMID:25982971 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28761321 PMID:29127258 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
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:21209035 PMID:24400638 PMID:24746959 PMID:25741868 PMID:26467025 PMID:27385962 PMID:28041643 PMID:28492532 PMID:30614526 PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
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: Bardet-Biedl syndrome 7 ClinVar
OMIM
PMID:12567324 PMID:19402160 PMID:20498079 PMID:21344540 PMID:21937992 PMID:22302990 PMID:25741868 PMID:26518167 PMID:28492532 PMID:30614526 PMID:30718709 NCBI chr 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
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 ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 ClinVar
OMIM
PMID:9536098 PMID:14520415 PMID:16308660 PMID:17576681 PMID:21044901 PMID:24033266 PMID:25097241 PMID:25741868 PMID:28492532 PMID:30718709 PMID:33532864 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
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: Bardet-Biedl syndrome 9
ClinVar Annotator: match by term: Retinal vascular dystrophy
ClinVar
OMIM
PMID:16380913 PMID:22353939 PMID:23160099 PMID:23757202 PMID:25741868 PMID:26518167 PMID:28492532 PMID:30614526 PMID:30718709 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
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 PMID:30041933 PMID:30419932 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
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 1 ClinVar NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:26467025 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
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 NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by OMIM:613038
OMIM
ClinVar
PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 PMID:2634610 PMID:7670563 PMID:7721104 PMID:7833912 PMID:8768831 PMID:9392392 PMID:9588494 PMID:9626142 PMID:11222742 PMID:11297581 PMID:11924936 PMID:12629113 PMID:15928241 PMID:16968807 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
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:26467025 PMID:28492532 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 2
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive
ClinVar Annotator: match by OMIM:262600
OMIM
ClinVar
PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 PMID:10323394 PMID:10599689 PMID:10946881 PMID:11134108 PMID:11549674 PMID:11549703 PMID:12153609 PMID:12519826 PMID:12859410 PMID:14614227 PMID:15126542 PMID:15472232 PMID:15531542 PMID:15670191 PMID:15941866 PMID:15963055 PMID:16131601 PMID:16544023 PMID:16735499 PMID:16984240 PMID:17526936 PMID:17526949 PMID:18157385 PMID:19128366 PMID:20381582 PMID:20981092 PMID:21132537 PMID:21863341 PMID:22024773 PMID:22111336 PMID:23624138 PMID:24033266 PMID:25557026 PMID:25741868 PMID:26467025 PMID:26608600 PMID:26886902 PMID:28492532 PMID:28734020 PMID:30266296 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
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 ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 3
ClinVar Annotator: match by OMIM:221750
OMIM
ClinVar
PMID:10835633 PMID:12780757 PMID:16394081 PMID:16940453 PMID:17327381 PMID:17438671 PMID:18407919 PMID:19837867 PMID:25741868 PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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 4
ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by OMIM:262700
OMIM
ClinVar
PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23029363 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
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 ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies
ClinVar
CTD
PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
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 chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by OMIM:613986
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 6
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant
ClinVar
OMIM
PMID:17541950 PMID:18728160 PMID:22715480 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
Ensembl chr15:25,502,019...25,505,691
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: PALLISTER-HALL SYNDROME 2
OMIM
ClinVar
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:25741868 PMID:31292255 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
JBrowse link
G Avp arginine vasopressin ISO
IAGP
CTD Direct Evidence: marker/mechanism CTD PMID:6945054 PMID:15169711, PMID:8945633, PMID:13995944, PMID:5692127, PMID:10919858 RGD:734624, RGD:2314661, RGD:632128, RGD:2314654 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Avpdi arginine vasopressin; diabetes insipidus mutant IAGP RGD PMID:10919858, PMID:5692127, PMID:13995944 RGD:2314654, RGD:632128, RGD:2314661
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum: RGD PMID:9661594 RGD:7207422 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Gh1 growth hormone 1 ISO protein:decreased expression:serum RGD PMID:6777392 RGD:2315659 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Has2 hyaluronan synthase 2 IEP RGD PMID:19496322 RGD:9588637 NCBI chr 7:96,438,046...96,464,049
Ensembl chr 7:96,438,046...96,464,049
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6258694 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
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 Adenomas
ClinVar Annotator: match by term: Pituitary adenoma, familial isolated
ClinVar PMID:24050928 PMID:26186299 PMID:28492532 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pituitary adenoma, familial isolated ClinVar PMID:28492532 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar PMID:25741868 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
Gigantism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
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 chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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 OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2200621 PMID:5320367 PMID:12213383 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17609395 PMID:18381572 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 PMID:19955762 PMID:20354355 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22720333 PMID:22915287 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24423289 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28166811 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29074612 PMID:29308445 PMID:29632148 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30941100 PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
JBrowse link
G Men1 menin 1 ISS
ISO
OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO
ClinVar
PMID:30630164 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
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: Holoprosencephaly 9
ClinVar Annotator: match by OMIM:610829
OMIM
ClinVar
PMID:1756909 PMID:10725236 PMID:14581620 PMID:15994174 PMID:16327884 PMID:17096318 PMID:17569090 PMID:19223936 PMID:20685056 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26893459 PMID:28492532 PMID:29876959 PMID:30548673 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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 chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Drd2 dopamine receptor D2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:15286066 PMID:19339912, PMID:26297122 RGD:13506955 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
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
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 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
G Pgr progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr 8:7,128,656...7,187,796
Ensembl chr 8:7,128,656...7,187,796
JBrowse link
G Prl prolactin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:2880862 PMID:2948424 PMID:4001434 PMID:17303669, PMID:17303669 RGD:1642575 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Prlr prolactin receptor ISO OMIM NCBI chr 2:60,131,410...60,325,686
Ensembl chr 2:60,131,776...60,325,692
JBrowse link
G Slc6a3 solute carrier family 6 member 3 treatment IEP RGD PMID:26297122 RGD:13506955 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 1:36,320,504...36,354,694
Ensembl chr 1:36,320,461...36,354,756
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
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 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
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 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Hesx1 HESX homeobox 1 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
JBrowse link
G Lhx3 LIM homeobox 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Lhx4 LIM homeobox 4 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:21107737 RGD:10449406 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Otx2 orthodenticle homeobox 2 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1304515 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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 PMID:9768691 RGD:1601503 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO RGD PMID:14981518 RGD:1300422 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
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: Short stature, idiopathic, autosomal
ClinVar Annotator: match by OMIM:604271
OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:9140387 PMID:9814495 PMID:10984309 PMID:12217488 PMID:17274879 PMID:17462934 PMID:21525302 PMID:21846964 PMID:21900382 PMID:24150201 PMID:25741868 PMID:26467025 PMID:27408750 PMID:28492532 PMID:28498917 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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 chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 2:202,159,659...202,452,361
Ensembl chr 2:202,200,797...202,443,026
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 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Gh1 growth hormone 1 ISO
IAGP
DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 PMID:16741161 PMID:17223997 PMID:18160466 PMID:18473352 PMID:18785993 PMID:18950677 PMID:23182822 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532, PMID:27114065, PMID:2752987 RGD:12904703, RGD:1578505 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gh1sdr IAGP RGD PMID:2752987 RGD:1578505
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
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 growth hormone deficiency
DNA:deletion
ClinVar PMID:8528260, PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Hpca hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Tg thyroglobulin IAGP RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
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: Primordial dwarfism ClinVar PMID:24389050 PMID:25558065 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by synonym: Primordial Dwarfism
ClinVar Annotator: match by term: Primordial Dwarfism
ClinVar PMID:24389050 PMID:25558065 NCBI chr 6:10,594,147...10,602,103
Ensembl chr 6:10,594,122...10,602,085
JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds:
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar PMID:24389050 PMID:25558065, PMID:24389050 RGD:8694132
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by OMIM:262400
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: PITUITARY DWARFISM I
DNA:deletion: :
ClinVar
OMIM
PMID:2347891 PMID:8364549 PMID:8496314 PMID:9152628 PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:25741868 PMID:26467025 PMID:28492532, PMID:14594175 RGD:12904729 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrh growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:22840364 PMID:25558065 PMID:25741868 NCBI chr 8:114,982,764...115,050,844
Ensembl chr 8:114,986,326...115,050,728
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 2:18,674,496...18,927,463
Ensembl chr 2:18,677,220...18,927,365
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: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: Isolated Growth Hormone Deficiency, Type IB
OMIM
ClinVar
PMID:8496314 PMID:9152628 PMID:10678654 PMID:10689634 PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: DWARFISM OF SINDH
ClinVar PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 PMID:10944436 PMID:10946881 PMID:11232012 PMID:11298081 PMID:11443201 PMID:11502843 PMID:11875102 PMID:12163232 PMID:12181638 PMID:12414875 PMID:12788864 PMID:12794696 PMID:16284391 PMID:16522693 PMID:17356054 PMID:17911170 PMID:18297129 PMID:19622623 PMID:21044116 PMID:22489751 PMID:25541890 PMID:25741868 PMID:28492532 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
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 ClinVar Annotator: match by OMIM:173100
ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II
ClinVar
OMIM
PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 PMID:9175738 PMID:9432120 PMID:9554464 PMID:9578959 PMID:9700205 PMID:9799079 PMID:10372722 PMID:10445339 PMID:10469016 PMID:10549303 PMID:10629163 PMID:10698162 PMID:11502827 PMID:11502836 PMID:11836331 PMID:11914025 PMID:12000366 PMID:12399418 PMID:12510984 PMID:12574219 PMID:12655557 PMID:12720086 PMID:15001589 PMID:15671105 PMID:16368751 PMID:16491012 PMID:17038549 PMID:17073157 PMID:17178704 PMID:17336732 PMID:17360215 PMID:17726075 PMID:17785368 PMID:18160466 PMID:18473352 PMID:18554279 PMID:18785993 PMID:18950677 PMID:20351314 PMID:23736291 PMID:25741868 PMID:26467025 PMID:27253996 PMID:28492532 PMID:28626954 PMID:29739035 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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 Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar Annotator: match by term: IGHD III
ClinVar Annotator: match by OMIM:307200
OMIM
ClinVar
PMID:3486747 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9486400 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10737994 PMID:10844531 PMID:10859027 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11668622 PMID:11742281 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:14974089 PMID:15112668 PMID:15661032 PMID:16159644 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16862044 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21039741 PMID:21520333 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24586880 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26931785 PMID:27199251 PMID:27512878 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28398200 PMID:28418267 PMID:28492532 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29875397 PMID:30018078 PMID:30072168 PMID:30290665 PMID:30311057 PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
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: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V ClinVar
OMIM
PMID:24480542 PMID:29255062 NCBI chr 2:216,481,457...216,510,051
Ensembl chr 2:216,481,436...216,509,827
JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency ClinVar
OMIM
PMID:16511605 PMID:19789204 PMID:25741868 PMID:26094658 PMID:28492532 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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: Kowarski syndrome
ClinVar Annotator: match by OMIM:262650
ClinVar
OMIM
PMID:8552145 PMID:9152628 PMID:9276733 PMID:12655557 PMID:15001589 PMID:15713716 PMID:17519310 PMID:18160466 PMID:18950677 PMID:26467025 PMID:28492532, PMID:9276733 RGD:1601313 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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 OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25574898 PMID:25741868 PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
nephrogenic diabetes insipidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B ISO RGD PMID:10913167 RGD:8548674 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aqp2 aquaporin 2 ISO
IEP
DNA, protein:mutation, decreased activity::p.V71M (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus, autosomal
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by synonym: Vasopressin-resistant diabetes insipidus
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
CTD
PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 PMID:9048343 PMID:9593782 PMID:10564236 PMID:10574954 PMID:10770218 PMID:10997928 PMID:11076974 PMID:11143979 PMID:11374071 PMID:14593099 PMID:16120822 PMID:16121255 PMID:16361827 PMID:18470935 PMID:18653713 PMID:18854434 PMID:20374732 PMID:22644838 PMID:25741868 PMID:26467025 PMID:27156763 PMID:28492532, PMID:19147915, PMID:11035038, PMID:12191971, PMID:16434568, PMID:16845277, PMID:19585583, PMID:19458121, PMID:16968783, PMID:19461158, PMID:18296634, PMID:18653713, PMID:19701945, PMID:19293543, PMID:17229678 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 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr 5:57,423,735...57,429,252
Ensembl chr 5:57,423,734...57,429,245
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO DNA:deletion, missense mutation, nonsense mutation:p.W296X, p.V88M (human)
ClinVar Annotator: match by term: Nephrogenic diabetes insipidus
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:304800
ClinVar Annotator: match by synonym: Vasopressin-resistant diabetes insipidus
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
CTD
PMID:1303257 PMID:1303271 PMID:7541187 PMID:7833930 PMID:7913579 PMID:7933835 PMID:8037205 PMID:8401502 PMID:8704106 PMID:8766931 PMID:8815789 PMID:9402087 PMID:9452109 PMID:9773787 PMID:10026829 PMID:10714359 PMID:10749568 PMID:10770218 PMID:10820168 PMID:10918636 PMID:11128419 PMID:11232028 PMID:12414899 PMID:14998935 PMID:15522100 PMID:15841479 PMID:16319185 PMID:16502494 PMID:16689923 PMID:17216256 PMID:17491025 PMID:18407239 PMID:18726898 PMID:19703807 PMID:19729439 PMID:19729836 PMID:19812297 PMID:20374732 PMID:26467025, PMID:17550212, PMID:17371330, PMID:19816050, PMID:17020465, PMID:18489790, PMID:17941907 RGD:2314017, RGD:2314018, RGD:2314013, RGD:2314019, RGD:2314015, RGD:2314016 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO
ISS
OMIM:125800 | OMIM:304800 MouseDO PMID:9916798 RGD:1300296 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Grn granulin precursor ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Prkca protein kinase C, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25006961 NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:19729836 RGD:10003043 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Rnf40 ring finger protein 40 IEP protein:increased expression:kidney (rat) RGD PMID:21734099 RGD:9587431 NCBI chr 1:199,037,472...199,052,823
Ensembl chr 1:199,037,544...199,052,172
JBrowse link
G Sirt1 sirtuin 1 ISS OMIM:125800 | OMIM:304800 MouseDO NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc4a4 solute carrier family 4 member 4 IDA protein:increased expression:kidney cortex RGD PMID:12944321 RGD:1600034 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
JBrowse link
Nephrogenic Diabetes Insipidus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Nephrogenic diabetes insipidus, X-linked ClinVar
OMIM
PMID:1303257 PMID:1303271 PMID:1356229 PMID:4886456 PMID:5309332 PMID:7714087 PMID:7833930 PMID:7913579 PMID:7987330 PMID:7989330 PMID:8037205 PMID:8078903 PMID:8104196 PMID:8401502 PMID:8479490 PMID:8479491 PMID:8704106 PMID:8766931 PMID:9027323 PMID:9171234 PMID:9329382 PMID:9369448 PMID:9402087 PMID:9452109 PMID:9587067 PMID:9711877 PMID:9853256 PMID:10026829 PMID:10526945 PMID:10770218 PMID:10820167 PMID:10820168 PMID:11128419 PMID:11134505 PMID:11232028 PMID:12955588 PMID:15522100 PMID:15841479 PMID:15872203 PMID:17216256 PMID:17491025 PMID:18726898 PMID:20403097 PMID:22644838 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:32073219 PMID:32903920 PMID:33532864 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
Nephrogenic Diabetes Insipidus 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: Nephrogenic diabetes insipidus, autosomal ClinVar
OMIM
PMID:7512890 PMID:7524315 PMID:7537761 PMID:8793791 PMID:9024277 PMID:9048343 PMID:9302264 PMID:9550615 PMID:9593782 PMID:9649557 PMID:9745427 PMID:10564236 PMID:10574954 PMID:10770218 PMID:10997928 PMID:11076974 PMID:11143979 PMID:11374071 PMID:11536078 PMID:11853799 PMID:11929850 PMID:12050236 PMID:12191971 PMID:14593099 PMID:15509592 PMID:16120822 PMID:17192724 PMID:18431594 PMID:18854434 PMID:19147915 PMID:19293543 PMID:19458121 PMID:20711567 PMID:22498392 PMID:22644838 PMID:22778181 PMID:25741868 PMID:26069764 PMID:26442203 PMID:26467025 PMID:27156763 PMID:27641679 PMID:28492532 PMID:30784238 PMID:33532864 NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
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 ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis OMIM
ClinVar
PMID:9711877 PMID:11134505 PMID:15872203 PMID:25741868 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
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
IEP
DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus
ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive
ClinVar Annotator: match by OMIM:125700
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1740104 PMID:1840604 PMID:3390991 PMID:6132221 PMID:7057320 PMID:7714110 PMID:8103767 PMID:8370681 PMID:8370682 PMID:8514868 PMID:8626836 PMID:8945633 PMID:9360520 PMID:9467595 PMID:9580132 PMID:9814475 PMID:10369876 PMID:10487710 PMID:11017955 PMID:11443218 PMID:11836335 PMID:12107248 PMID:14660745 PMID:14673472 PMID:15070970, PMID:18494865, PMID:18578860 RGD:2301918, RGD:2301917 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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 DNA:frameshift deletions
ClinVar Annotator: match by term: Pallister-Hall syndrome
DNA:mutations:exon, intron:multiple
DNA:deletions
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:146510
ClinVar
CTD
OMIM
PMID:9054938 PMID:9148633 PMID:10441570 PMID:10945658 PMID:12545275 PMID:15739154 PMID:21532573 PMID:24736735 PMID:25741868 PMID:28492532, PMID:9054938, PMID:15739154, PMID:24736735, PMID:11978771 RGD:1599838, RGD:12738222, RGD:12738205, RGD:12738143 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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: Hypothalamic hamartoma OMIM
ClinVar
PMID:30497210 PMID:32413283 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined
ClinVar PMID:15963055 PMID:18157385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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 chr13:48,390,434...48,400,583
Ensembl chr13:48,390,417...48,400,632
Ensembl chr13:48,390,417...48,400,632
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP RGD PMID:12036912 RGD:619590 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
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
OMIM
PMID:16728643 PMID:17341560 PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
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 ClinVar
OMIM
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7737262 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:17493233 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
pituitary adenoma 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES ClinVar
OMIM
PMID:9536098 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 PMID:16679490 PMID:17407589 PMID:17576681 PMID:18273900 PMID:18323324 PMID:18429043 PMID:18484607 PMID:19683999 PMID:20513143 PMID:20613545 PMID:21436283 PMID:21569298 PMID:21940737 PMID:23451239 PMID:23804846 PMID:24033266 PMID:24498627 PMID:24875298 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25741868 PMID:26399936 PMID:26467025 PMID:27068579 PMID:27743452 PMID:28413019 PMID:28492532 PMID:30303587 PMID:30311386 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES ClinVar PMID:24033266 PMID:25741868 PMID:28413019 PMID:28492532 NCBI chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
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 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
pituitary carcinoma 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: Pituitary carcinoma ClinVar PMID:21120943 PMID:21232165 PMID:25741868 PMID:28492532 PMID:30212499 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
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 PMID:18273873 PMID:18602922 PMID:19156169 PMID:20205264 PMID:20531397 PMID:21204794 PMID:21239990 PMID:21376568 PMID:22577899 PMID:22949387 PMID:23709753 PMID:24027009 PMID:24033266 PMID:24055113 PMID:24897087 PMID:25194673 PMID:25345868 PMID:25741868 PMID:25871621 PMID:26116798 PMID:26318770 PMID:26467025 PMID:26845104 PMID:27433846 PMID:27435373 PMID:27863258 PMID:28492532 PMID:28528518 PMID:28596308 PMID:30702970 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
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 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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 chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:18981426 RGD:8662821 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391232 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Clu clusterin treatment ISO RGD PMID:23051594 RGD:8699506 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12727942 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Esr2 estrogen receptor 2 ISO mRNA:decreased expression:pituitary gland (human) RGD PMID:11081187 RGD:8694115 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19420816 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrh growth hormone releasing hormone ISO Adenoma; human gene in mouse model RGD PMID:1425411 RGD:5687177 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
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 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K IEP mRNA:decreased expression:pituitary gland (rat) RGD PMID:12716410 RGD:10058970 NCBI chr17:6,664,730...6,676,753
Ensembl chr17:6,665,659...6,676,654
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer IDA RGD PMID:15538938 RGD:1627046 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Men1 menin 1 ISO DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland RGD PMID:12030908 RGD:2317360 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Prkca protein kinase C, alpha ISO DNA:point mutation:somatic:D294G RGD PMID:8077302 RGD:1601471 NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:2274009 PMID:3498743 PMID:6156259 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin IMP RGD PMID:9092795 RGD:68295 NCBI chr10:29,014,332...29,026,088
Ensembl chr10:29,020,049...29,026,002
JBrowse link
G Rb1 RB transcriptional corepressor 1 IEP RGD PMID:10022766 RGD:8547989 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO mRNA:increased expression:pituitary gland (human) RGD PMID:23462647 RGD:11038736 NCBI chr10:75,334,200...75,341,197
Ensembl chr10:75,335,146...75,341,197
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 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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 chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
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 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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 chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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 NCBI chr13:83,530,389...83,576,117
Ensembl chr13:83,531,018...83,571,505
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
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 6:38,474,773...38,777,146
Ensembl chr 6:38,474,804...38,777,806
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 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
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 chr11:9,079,291...10,146,302
Ensembl chr11:9,642,365...10,143,317
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
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 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Pituitary stalk interruption syndrome ClinVar PMID:25741868 NCBI chr 7:74,118,834...74,722,341
Ensembl chr 7:75,852,610...75,858,812
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 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Pituitary ACTH Hypersecretion ClinVar PMID:7737262 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16809932 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16809932 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Scg5 secretogranin V ISS MouseDO NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Pituitary ACTH Hypersecretion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25485838 PMID:25675982 PMID:25942478 NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
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 PMID:16809920, PMID:12552124 RGD:629544 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cebpd CCAAT/enhancer binding protein delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21980073 NCBI chr11:89,008,008...89,009,146
Ensembl chr11:89,008,008...89,009,146
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Prolactin-secreting pituitary adenoma ClinVar PMID:25741868 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Men1 menin 1 ISS OMIM:600634 MouseDO NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IEP mRNA:increased expression:pituitary gland (rat) RGD PMID:22635680 RGD:7240531 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nog noggin ISO mRNA, protein:decreased expression:pituitary RGD PMID:12552124 RGD:629544 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Npy5r neuropeptide Y receptor Y5 IEP protein:increased expression:pars anterior RGD PMID:11026575 RGD:1625506 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G Prl prolactin IEP
ISO
IAGP
mRNA:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism
DNA:mutation
CTD PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019, PMID:17260475, PMID:17260475 RGD:1642576, RGD:1642576 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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
ClinVar Annotator: match by term: RAHMAN SYNDROME
OMIM
ClinVar
PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 PMID:28492532 PMID:29383847 PMID:29704315 PMID:31447100 PMID:33270410 NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
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
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:28492532 PMID:29891882 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar Annotator: match by term: Schaaf-yang syndrome
ClinVar Annotator: match by OMIM:615547
OMIM
ClinVar
PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25741868 PMID:26365340 PMID:26633545 PMID:27195816 PMID:27632685 PMID:28281571 PMID:28492532 PMID:29581464 PMID:29599419 PMID:31397880 PMID:31680349 PMID:32860008 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
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 ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
ClinVar Annotator: match by OMIM:312870
OMIM
ClinVar
PMID:9950367 PMID:10814714 PMID:12713262 PMID:16158429 PMID:17603795 PMID:17850639 PMID:18203194 PMID:19215053 PMID:23606591 PMID:24459012 PMID:25741868 PMID:26321508 PMID:28492532 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:100,465,365...100,474,128
Ensembl chr 4:100,465,170...100,474,301
JBrowse link
Tatton-Brown-Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:23849776 PMID:24606448 PMID:24614070 PMID:24622842 PMID:24656771 PMID:24728327 PMID:25741868 PMID:26619011 PMID:26876596 PMID:27317772 PMID:27701732 PMID:27991732 PMID:28166811 PMID:28263302 PMID:28432085 PMID:28492532 PMID:28941052 PMID:29900417 PMID:32435502 PMID:32860008 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Eif3f eukaryotic translation initiation factor 3, subunit F ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868 PMID:30409806 NCBI chr 1:173,532,826...173,541,806
Ensembl chr 1:173,532,803...173,541,847
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: Tenorio syndrome OMIM
ClinVar
PMID:25196541 PMID:25741868 PMID:28492532 NCBI chr18:15,193,226...15,225,454
Ensembl chr18:15,192,962...15,225,427
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
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar
OMIM
PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405
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
Ensembl chr MT:2,740...3,694
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1161832 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11317350 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15605410 PMID:17492394 PMID:17517145 PMID:17568405 PMID:18414213 PMID:18544103 PMID:19344068 PMID:20028947 PMID:20738327 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23856252 PMID:23990876 PMID:24033266 PMID:24705017 PMID:24890733 PMID:25133958 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25741868 PMID:25842391 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27185633 PMID:27395765 PMID:28432734 PMID:28492532 PMID:30014265 PMID:30311386 PMID:30957632 PMID:31567480 PMID:32141364, PMID:9771706 RGD:1599813 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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 ClinVar Annotator: match by term: Wolfram syndrome 1
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1
OMIM
ClinVar
PMID:1161832 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15605410 PMID:16151413 PMID:16195229 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17603484 PMID:18040659 PMID:18414213 PMID:18544103 PMID:18806274 PMID:19042979 PMID:19877185 PMID:20028947 PMID:20160352 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21454619 PMID:21538838 PMID:21602428 PMID:22238590 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24227685 PMID:24424032 PMID:24890733 PMID:25133958 PMID:25211237 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25741868 PMID:25842391 PMID:26025012 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26875006 PMID:26969326 PMID:27185633 PMID:27395765 PMID:27434582 PMID:28432734 PMID:28468959 PMID:28492532 PMID:29529044 PMID:30311386 PMID:32141364 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
CTD
PMID:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
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 NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
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 ClinVar Annotator: match by term: Mental retardation, X-linked, with isolated growth hormone deficiency
DNA:duplication:cds:c.712_744dup (human)
ClinVar PMID:8826446 PMID:12428212, PMID:12428212 RGD:11535974 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link
X-Linked Mental Retardation 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: Mental retardation with panhypopituitarism, X-linked OMIM
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
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 OMIM:312000 OMIM
ClinVar
PMID:15800844 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            thalamic disease 227
              Thalamic Degeneration Symmetrical Infantile 0
              hypothalamic disease + 227
paths to the root