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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:hypothyroidism
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Accession:DOID:1459 term browser browse the term
Definition:A thyroid gland disease which involves an underproduction of thyroid hormone. (DO)
Synonyms:exact_synonym: TSH Deficiencies;   TSH deficiency;   Thyroid Stimulating Hormone Deficiency;   Thyroid-Stimulating Hormone Deficiencies;   hypothyroidisms;   thyroid deficiency;   thyroid insufficiency
 primary_id: MESH:D007037
 alt_id: OMIA:000536
 xref: ICD10CM:E03.9;   ICD9CM:244.9;   NCI:C26800
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:30311386 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Abcd2 ATP binding cassette subfamily D member 2 treatment ISO RGD PMID:28200172 RGD:13673918 NCBI chr 7:132,294,564...132,343,169
Ensembl chr 7:132,294,562...132,343,169
JBrowse link
G Acadm acyl-CoA dehydrogenase medium chain ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:1361190, PMID:1447668, PMID:1570195, PMID:1601002, PMID:1671131, PMID:1678810, PMID:1679031, PMID:1684086, PMID:1756601, PMID:1902818, PMID:1972503, PMID:2046713, PMID:2251268, PMID:2393404, PMID:2394825, PMID:3786030, PMID:6434827, PMID:7652482, PMID:7720752, PMID:7730333, PMID:7904584, PMID:8104486, PMID:8770876, PMID:9797589, PMID:11263545, PMID:11346377, PMID:11349232, PMID:11486912, PMID:15832312, PMID:16291504, PMID:16617240, PMID:16737882, PMID:16763904, PMID:18241067, PMID:19224950, PMID:19780764, PMID:20036593, PMID:20301597, PMID:20333879, PMID:20434380, PMID:21228398, PMID:22630369, PMID:22975760, PMID:23028790, PMID:23509891, PMID:23574375, PMID:23842438, PMID:24033266, PMID:24082139, PMID:24623196, PMID:24718418, PMID:24799540, PMID:24966162, PMID:24998633, PMID:25087612, PMID:25333063, PMID:25741868, PMID:25763512, PMID:26215884, PMID:26223887, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 2:260,124,418...260,148,589
Ensembl chr 2:260,124,418...260,148,589
JBrowse link
G Adrb2 adrenoceptor beta 2 IEP mRNA,protein:decreased expression:brown adipose tissue, heart: RGD PMID:1651697 RGD:8548533 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alad aminolevulinate dehydratase IEP protein:decreased activity:blood (rat) RGD PMID:17720948 RGD:4144163 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:9022675 RGD:2306952 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Anxa2 annexin A2 IEP protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Anxa5 annexin A5 IEP protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apoa5 apolipoprotein A5 IEP protein:decreased expression:liver RGD PMID:15941710 RGD:1601661 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc3 apolipoprotein C3 IDA RGD PMID:8429259 RGD:1599190 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E IEP protein:increased expression:plasma, high-density lipoprotein particle (rat) RGD PMID:6816881 RGD:12904658 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) IEP RGD PMID:12595491 RGD:704374 NCBI chr 5:57,423,735...57,429,252
Ensembl chr 5:57,423,734...57,429,245
JBrowse link
G Arsa arylsulfatase A IDA RGD PMID:7901316 RGD:1599223 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IEP mRNA:decreased expression:heart left ventricle RGD PMID:21217071 RGD:6904140 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP treatment IEP protein:decreased expression:liver, mitochondrion (rat) RGD PMID:19878644, PMID:9733093 RGD:13830874, RGD:13838730 NCBI chr11:32,081,606...32,087,918
Ensembl chr11:32,081,574...32,088,002
JBrowse link
G Bad BCL2-associated agonist of cell death IEP RGD PMID:22513421 RGD:10053713 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:20600205 RGD:4891132 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cat catalase treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cav1 caveolin 1 IEP protein:increased expression:cerebellum RGD PMID:21611807 RGD:6784532 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 IEP RGD PMID:22987596 RGD:13782376 NCBI chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP mRNA:increased expression:heart ventricle RGD PMID:8745212 RGD:7257542 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col2a1 collagen type II alpha 1 chain treatment IDA RGD PMID:17310101 RGD:8661259 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 IEP mRNA:increased expression:ovary (rat) RGD PMID:20149258 RGD:4890368 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Dcx doublecortin IEP protein:altered expression:cerebellum RGD PMID:22595232 RGD:12904757 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 IEP mRNA, protein:increased expression:thyroid gland RGD PMID:11694350 RGD:2316251 NCBI chr15:43,475,640...43,581,725
Ensembl chr15:43,477,629...43,542,939
JBrowse link
G Elavl4 ELAV like RNA binding protein 4 IEP mRNA,protein:increased expression:brain: RGD PMID:12859688 RGD:1579855 NCBI chr 5:130,001,387...130,144,557
Ensembl chr 5:130,001,372...130,085,838
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP mRNA,protein:increased expression,increased activity:hippocampus: RGD PMID:15811553 RGD:9685476 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G F7 coagulation factor VII IEP protein:increased expression:plasma (rat) RGD PMID:989968 RGD:2312322 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Foxp3 forkhead box P3 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:9851430, PMID:15452297, PMID:19813197, PMID:20058079, PMID:23034915, PMID:23218673, PMID:24033266, PMID:25489661, PMID:25741868, PMID:26166723, PMID:26886200, PMID:28492532, PMID:28507268, PMID:30311386 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:12601710, PMID:14561495, PMID:15805163, PMID:18021315, PMID:19782751, PMID:21199105, PMID:21753178, PMID:21890626, PMID:22971097, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:increased expression:plasma (rat) RGD PMID:9030821 RGD:2312549 NCBI chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IDA RGD PMID:22733496 RGD:7257534 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP mRNA:increased expression:heart (rat) RGD PMID:19728039 RGD:5685027 NCBI chr12:49,626,871...49,750,389
Ensembl chr12:49,626,871...49,746,272
JBrowse link
G Gsn gelsolin IEP Protein:increased expression:cochlea RGD PMID:2848627 RGD:1599872 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527
G Ifng interferon gamma treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1380443 RGD:12910458 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 IEP RGD PMID:11834454 RGD:1626512 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:24534949, PMID:29896255 RGD:11049472, RGD:38549578 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G L1cam L1 cell adhesion molecule IEP mRNA,protein:increased expression: cerebral cortex: RGD PMID:11085884 RGD:11570514 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lipc lipase C, hepatic type IDA protein:reduced expression:plasma (rat)
mRNA, protein:reduced expression:hepatocyte, extracellular space (rat)
RGD PMID:12841343, PMID:9106496 RGD:2308783, RGD:2308790 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Map1a microtubule-associated protein 1A IEP protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 3:113,251,918...113,272,193
Ensembl chr 3:113,251,778...113,272,186
JBrowse link
G Map1b microtubule-associated protein 1B IEP protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:30311386 NCBI chr19:26,026,045...26,053,762
Ensembl chr19:26,026,043...26,053,762
JBrowse link
G Mbp myelin basic protein IEP RGD PMID:11592121 RGD:27226698 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein IEP RGD PMID:11592121 RGD:27226698 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Mstn myostatin IEP RGD PMID:18997488 RGD:2303545 NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IEP mRNA:decreased expression:brain, heart RGD PMID:7763274 RGD:2302314 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt3 metallothionein 3 IEP mRNA:increased expression:brain RGD PMID:10407136 RGD:9685800 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Mthfr methylenetetrahydrofolate reductase IEP protein:decreased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myh6 myosin heavy chain 6 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 IEP RGD PMID:2950137, PMID:1703406 RGD:12792943, RGD:12798563 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:increased expression:hippocampus RGD PMID:20412599 RGD:2326028 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Ncoa1 nuclear receptor coactivator 1 IEP mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr 6:28,677,563...28,931,844
Ensembl chr 6:28,677,540...28,931,843
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 IEP mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Nefh neurofilament heavy treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Ngf nerve growth factor IEP mRNA:decreased expression:hypothalamus RGD PMID:19233274 RGD:2303791 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos2 nitric oxide synthase 2 IEP mRNA, protein:altered expression:cerebral cortex RGD PMID:21196918 RGD:4891143 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased activity:ovary (rat) RGD PMID:29214681 RGD:13504721 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IEP RGD PMID:1315530 RGD:10448989 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Nrgn neurogranin treatment IEP protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn RGD PMID:20041985, PMID:16004982 RGD:9835423, RGD:9835430 NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
JBrowse link
G Otof otoferlin IEP mRNA, protein:decreased expression:cochlea (rat) RGD PMID:17376979 RGD:9491752 NCBI chr 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase IEP mRNA:increased stability:pituitary gland RGD PMID:8940376 RGD:2302427 NCBI chr 9:111,028,543...111,177,588
Ensembl chr 9:111,028,575...111,177,602
JBrowse link
G Pcna proliferating cell nuclear antigen IEP RGD PMID:21273639 RGD:10448988 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 IEP mRNA:increased expression:hypothalamus, hippocampus, cortex (rat)
protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat)
RGD PMID:15291740, PMID:16926379 RGD:2308889, RGD:1600414 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 IDA RGD PMID:2774570 RGD:70269 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA, protein:decreased expression:ovary, granulosa cell RGD PMID:17982271 RGD:5131997 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr12:22,716,421...22,726,982
Ensembl chr12:22,716,423...22,726,982
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 treatment IEP RGD PMID:19619606 RGD:14985223 NCBI chr 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:11971877, PMID:16527883, PMID:20506269, PMID:22161697, PMID:22513199, PMID:25845478, PMID:26025129, PMID:28492532, PMID:30311386 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22493691 RGD:6484670 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Reln reelin IEP protein:increased expression:layers of neocortex, hypothalamus (rat) RGD PMID:10436054 RGD:634730 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human) RGD PMID:17588142 RGD:5147628 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:17588142 RGD:5147628 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpina7 serpin family A member 7 IEP protein:increased expression:liver RGD PMID:2106883 RGD:1600137 NCBI chr  X:110,226,565...110,232,202
Ensembl chr  X:110,226,572...110,232,179
JBrowse link
G Shh sonic hedgehog signaling molecule IEP mRNA:decreased expression:cerebellum RGD PMID:18827446 RGD:2306294 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31121238 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
G Slc26a5 solute carrier family 26 member 5 IEP
ISO
protein:altered expression:cochlear outer hair cell (rat)
Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse)
RGD PMID:17520268, PMID:19176829 RGD:9585686, RGD:9585687 NCBI chr 4:9,795,811...9,860,904
Ensembl chr 4:9,821,541...9,860,571
JBrowse link
G Slc2a1 solute carrier family 2 member 1 IEP protein:decreased expression:cerebral cortex RGD PMID:16581179 RGD:12879481 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28860195 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Slc34a1 solute carrier family 34 member 1 IEP protein:decreased expression:renal cortex, brush border membrane (rat) RGD PMID:17409279 RGD:7243134 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP protein:decreased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA
IEP
mRNA:decreased expression:renal cortex (rat) RGD PMID:22076484, PMID:21607622 RGD:8655983, RGD:8655989 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:decreased expression:epididymus (rat) RGD PMID:20303481 RGD:4891505 NCBI chr 1:36,320,504...36,354,694
Ensembl chr 1:36,320,461...36,354,756
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Tg thyroglobulin IAGP
ISO
DNA:missense mutation:CDS:p.G2320R (rat)
ClinVar Annotator: match by term: Hypothyroidism
ClinVar PMID:11089535 RGD:730133 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22985614 RGD:11038688 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tomm70 translocase of outer mitochondrial membrane 70 IEP mRNA:increased expression:striatum RGD PMID:10582581 RGD:11522362 NCBI chr11:45,477,053...45,511,409
Ensembl chr11:45,480,250...45,510,961
JBrowse link
G Trh thyrotropin releasing hormone IEP protein:increased expression:hypothalamus, neuron RGD PMID:16926379 RGD:1600414 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO DNA:nonsense mutation:exon:94G>T (p.E11X) (human)
ClinVar Annotator: match by term: TSH deficiency
ClinVar Annotator: match by term: THYROID-STIMULATING HORMONE DEFICIENCY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1971148, PMID:2792087, PMID:8636437, PMID:9589689, PMID:11297590, PMID:11549695, PMID:11788671, PMID:12364478, PMID:15292359, PMID:18031379, PMID:24423284, PMID:24729111, PMID:25741868, PMID:25950606, PMID:26416826, PMID:27387040, PMID:28492532, PMID:1971148 RGD:737692 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
G Ucp2 uncoupling protein 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:21190599 RGD:7175296 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Ucp3 uncoupling protein 3 IEP protein:decreased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
JBrowse link
G Wnt3a Wnt family member 3A IEP mRNA:decreased expression:hippocampus RGD PMID:19233274 RGD:2303791 NCBI chr10:45,598,898...45,643,151
Ensembl chr10:45,598,912...45,638,035
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:241850
ClinVar Annotator: match by synonym: Hypothyroidism, thyroidal, with spiky hair and cleft palate
OMIM
ClinVar
CTD
PMID:2918525, PMID:9697705, PMID:12165566, PMID:16882747, PMID:16884476, PMID:21177256, PMID:25381600, PMID:25741868, PMID:28492532 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25741868, PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130, PMID:18798845, PMID:21344633, PMID:22077973, PMID:23436491, PMID:25326637, PMID:25424711, PMID:25741868, PMID:26334766, PMID:26938784, PMID:27696664, PMID:28758091, PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
ClinVar Annotator: match by OMIM:610978
OMIM
ClinVar
PMID:11854318, PMID:11854319, PMID:12891678, PMID:15289765, PMID:15955952, PMID:17220277, PMID:18788921, PMID:19176457, PMID:19336474, PMID:24555207, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29538355, PMID:26839702, PMID:18788921, PMID:23379327, PMID:23911641 RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
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 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, 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:25627829, 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 OMIM:262700
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
OMIM
ClinVar
PMID:11567216, PMID:17201807, PMID:17527005, PMID:18445675, PMID:20534763, PMID:23029363, PMID:23990694, PMID:24033266, PMID:25627829, PMID:25741868, PMID:25910213, PMID:28492532 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex, subunit 5 IEP protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chr13:70,174,970...70,183,879
Ensembl chr13:70,174,936...70,183,879
JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d IEP protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr10:103,967,340...103,972,552
Ensembl chr10:103,967,312...103,972,668
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IDA mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12110737, PMID:16134168, PMID:16322276, PMID:17121535, PMID:17374849, PMID:18765513, PMID:19789206, PMID:20187165, PMID:20972728, PMID:21565790, PMID:21900383, PMID:23457309, PMID:24033266, PMID:24423310, PMID:24735383, PMID:25741868, PMID:26990548, PMID:27108200, PMID:27821020, PMID:28492532, PMID:28666341, PMID:30240412, PMID:12110737 RGD:734905 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23079472 RGD:10395304 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Foxe1 forkhead box E1 ISS MouseDO NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr13:35,436,532...35,442,222
Ensembl chr13:35,436,532...35,442,222
JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 1:40,086,513...40,100,966
Ensembl chr 1:40,086,470...40,101,840
JBrowse link
G Nefh neurofilament heavy IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Ngfr nerve growth factor receptor treatment IEP RGD PMID:23312094 RGD:10414076 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Pax8 paired box 8 ISO
ISS
nongoitrous congenital hypothyroidism 2, OMIM:218700
ClinVar Annotator: match by term: Congenital hypothyroidism
MouseDO
ClinVar
PMID:9590296 RGD:1600298 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Runx2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chr 5:27,986,656...28,131,294
Ensembl chr 5:27,986,663...28,177,340
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P RGD PMID:9171822 RGD:1624273 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Tg thyroglobulin ISS MouseDO NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tpo thyroid peroxidase ISO total iodide organification defect, OMIM:274500
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1401057, PMID:12564727, PMID:14751036, PMID:15745925, PMID:16187919, PMID:17381485, PMID:17468186, PMID:23512414, PMID:25741868, PMID:27373559, PMID:27617131, PMID:30240412, PMID:30311386, PMID:7550241 RGD:1599648 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD
ClinVar
PMID:11442002, PMID:12629076, PMID:15693879, PMID:17526952, PMID:19158199, PMID:19506388, PMID:21677043, PMID:21707688, PMID:21714469, PMID:22405933, PMID:22876533, PMID:23926367, PMID:24033266, PMID:24895636, PMID:25741868, PMID:26709262, PMID:27084275, PMID:27637299, PMID:28444304, PMID:28455095 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
Congenital Nongoitrous Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520, PMID:9385128, PMID:10037069, PMID:17062880, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520, PMID:9385128, PMID:10037069, PMID:17062880, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar PMID:1955520, PMID:8964822, PMID:9385128, PMID:10037069, PMID:12050212, PMID:17062880, PMID:24728327, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar
OMIM
PMID:1955520, PMID:7528344, PMID:8954020, PMID:8964822, PMID:9100579, PMID:9185526, PMID:9329388, PMID:9385128, PMID:9589634, PMID:9589691, PMID:10037069, PMID:10720030, PMID:10870027, PMID:11095460, PMID:11442002, PMID:12050212, PMID:12629076, PMID:14725684, PMID:15514085, PMID:15693879, PMID:16756469, PMID:17062880, PMID:17526952, PMID:17953807, PMID:18379122, PMID:18850313, PMID:19158199, PMID:19221175, PMID:19240155, PMID:19506388, PMID:19820021, PMID:20652618, PMID:20718767, PMID:20736161, PMID:21586576, PMID:21677043, PMID:21707688, PMID:21714469, PMID:22049173, PMID:22359649, PMID:22405933, PMID:22876533, PMID:23356285, PMID:23535966, PMID:23926367, PMID:24033266, PMID:24728327, PMID:24895636, PMID:25248169, PMID:25557138, PMID:25741868, PMID:26709262, PMID:27060741, PMID:27084275, PMID:27255745, PMID:27578510, PMID:27637299, PMID:28444304, PMID:28455095, PMID:28492532, PMID:28561265, PMID:30311386 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
ClinVar Annotator: match by term: Thyroid, ectopic
OMIM
ClinVar
PMID:9382140, PMID:9523167, PMID:9590296, PMID:11232006, PMID:11502839, PMID:12116225, PMID:15356023, PMID:15718293, PMID:17437516, PMID:17980011, PMID:20302910, PMID:23647375, PMID:25741868, PMID:28060725, PMID:28492532 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Pituitary cretinism
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
OMIM
ClinVar
PMID:1971148, PMID:2792087, PMID:8636437, PMID:9589689, PMID:11297590, PMID:11549695, PMID:11788671, PMID:12364478, PMID:15292359, PMID:24423284, PMID:25741868, PMID:25950606, PMID:26416826, PMID:27387040, PMID:28492532 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 OMIM
ClinVar
PMID:10587520, PMID:10903346, PMID:11714651, PMID:14607454, PMID:16418214, PMID:17891434, PMID:19073351, PMID:19464101, PMID:19533775, PMID:19948535, PMID:20456451, PMID:20807224, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:25741868, PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809, PMID:25741868 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Thra thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 OMIM
ClinVar
PMID:11075809, PMID:22168587, PMID:22494134, PMID:25326635, PMID:25670821, PMID:25741868, PMID:28492532 NCBI chr10:86,657,285...86,684,935
Ensembl chr10:86,657,285...86,684,933
JBrowse link
congenital nongoitrous hypothyroidism 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trhr thyrotropin releasing hormone receptor ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 OMIM
ClinVar
PMID:9141550, PMID:19213692, PMID:25741868, PMID:26735259, PMID:28419241 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
congenital nongoitrous hypothyroidism 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1x transducin (beta)-like 1 X-linked ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 OMIM
ClinVar
PMID:25741868, PMID:27603907, PMID:30591955 NCBI chr  X:44,959,883...44,988,551
Ensembl chr  X:44,830,849...44,988,551
JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 OMIM
ClinVar
PMID:30061370 NCBI chr  X:113,003,824...113,018,088 JBrowse link
Generalized Thyroid Hormone Resistance, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant
ClinVar Annotator: match by OMIM:188570
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1159077, PMID:1314846, PMID:1324420, PMID:1400869, PMID:1563081, PMID:1587388, PMID:1619012, PMID:1661299, PMID:1677564, PMID:1846005, PMID:1973914, PMID:1991834, PMID:2153155, PMID:2510172, PMID:2555064, PMID:2879243, PMID:3571851, PMID:7616549, PMID:7833659, PMID:8013151, PMID:8040303, PMID:8175986, PMID:8384535, PMID:8475937, PMID:8496318, PMID:8514853, PMID:8535442, PMID:8563471, PMID:8664910, PMID:8674808, PMID:8875752, PMID:8889584, PMID:8958790, PMID:9100577, PMID:9141558, PMID:9605924, PMID:10487671, PMID:10566629, PMID:11306605, PMID:11518118, PMID:11701667, PMID:11734632, PMID:15598685, PMID:15771554, PMID:16099238, PMID:16804041, PMID:17327419, PMID:19378427, PMID:20050372, PMID:21340159, PMID:21622532, PMID:21871106, PMID:22551329, PMID:23633200, PMID:24174637, PMID:24393243, PMID:25040256, PMID:25741868, PMID:25867808, PMID:26041374, PMID:26467025, PMID:28492532 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
Generalized Thyroid Hormone Resistance, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive
ClinVar Annotator: match by OMIM:274300
OMIM
ClinVar
PMID:1653889, PMID:1682340, PMID:1991834, PMID:4163616, PMID:8013151, PMID:8875752, PMID:15598685, PMID:22319036, PMID:24393243, PMID:25135573, PMID:25741868, PMID:26467025 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
IGSF1 deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by term: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by OMIM:300888
OMIM
ClinVar
PMID:23143598, PMID:25741868, PMID:27310681, PMID:30086211 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by OMIM:243800
OMIM
ClinVar
PMID:16311597, PMID:18553553, PMID:19006206, PMID:24033266, PMID:25741868 NCBI chr 3:112,800,557...112,910,038
Ensembl chr 3:112,800,557...112,876,773
JBrowse link
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Diabetes mellitus, neonatal, with congenital hypothyroidism
ClinVar Annotator: match by OMIM:610199
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12966531, PMID:16715098, PMID:18263616, PMID:18414213, PMID:23856252, PMID:24033266, PMID:25741868, PMID:26259131, PMID:28253873, PMID:28492532 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17503324 NCBI chr10:19,160,566...19,164,505
Ensembl chr10:19,160,582...19,164,505
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by OMIM:274600
ClinVar Annotator: match by term: Pendred's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23869231, PMID:25741868, PMID:27677466, PMID:27875746, PMID:28492532 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Pendred's syndrome
ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
OMIM
ClinVar
CTD
PMID:2422447, PMID:8541853, PMID:8630498, PMID:9070918, PMID:9398842, PMID:9500541, PMID:9604973, PMID:9618166, PMID:9618167, PMID:9920104, PMID:10190331, PMID:10571950, PMID:10602116, PMID:10644529, PMID:10700480, PMID:10718825, PMID:10861298, PMID:10874637, PMID:10878664, PMID:10902795, PMID:11317356, PMID:11375792, PMID:11405873, PMID:11502831, PMID:11700190, PMID:11716048, PMID:11748854, PMID:11919333, PMID:11932316, PMID:12112665, PMID:12354788, PMID:12642503, PMID:12676893, PMID:12788906, PMID:12920581, PMID:12974744, PMID:14508505, PMID:14679580, PMID:14715652, PMID:15099345, PMID:15279074, PMID:15355436, PMID:15531480, PMID:15574297, PMID:15611902, PMID:15679828, PMID:15689455, PMID:15720248, PMID:15747138, PMID:15811013, PMID:15933521, PMID:16053392, PMID:16275403, PMID:16283880, PMID:16460646, PMID:16482981, PMID:16570074, PMID:16684826, PMID:16711435, PMID:16773579, PMID:16791000, PMID:16914891, PMID:16924389, PMID:16950989, PMID:16952406, PMID:17146393, PMID:17309986, PMID:17322586, PMID:17357124, PMID:17443271, PMID:17503324, PMID:17697873, PMID:17718863, PMID:17766716, PMID:17851929, PMID:17876604, PMID:17940114, PMID:18075246, PMID:18167283, PMID:18250610, PMID:18274916, PMID:18283249, PMID:18285825, PMID:18310264, PMID:18322141, PMID:18381613, PMID:18427006, PMID:18585793, PMID:18641518, PMID:18813951, PMID:18988928, PMID:19017801, PMID:19040761, PMID:19169484, PMID:19199245, PMID:19204907, PMID:19287372, PMID:19318451, PMID:19426954, PMID:19429184, PMID:19509082, PMID:19565036, PMID:19578036, PMID:19608655, PMID:19615760, PMID:19620588, PMID:19645628, PMID:19648736, PMID:19718752, PMID:19744334, PMID:19786220, PMID:19787632, PMID:19888295, PMID:20128824, PMID:20137612, PMID:20146813, PMID:20301640, PMID:20553101, PMID:20583162, PMID:20597900, PMID:20601923, PMID:20621367, PMID:20668687, PMID:20826203, PMID:20842945, PMID:20981092, PMID:21045265, PMID:21154317, PMID:21366435, PMID:21551164, PMID:21557232, PMID:21704276, PMID:21811566, PMID:21961810, PMID:22116358, PMID:22116359, PMID:22116360, PMID:22285650, PMID:22289209, PMID:22384008, PMID:22389666, PMID:22412181, PMID:22717225, PMID:22796198, PMID:22884721, PMID:22903915, PMID:22975760, PMID:23151025, PMID:23151031, PMID:23185506, PMID:23208854, PMID:23266159, PMID:23273637, PMID:23280318, PMID:23296490, PMID:23336812, PMID:23385134, PMID:23401162, PMID:23504402, PMID:23555729, PMID:23617710, PMID:23638949, PMID:23705809, PMID:23718755, PMID:23770805, PMID:23838540, PMID:23918157, PMID:23958391, PMID:23965030, PMID:23967202, PMID:23980138, PMID:24007330, PMID:24033266, PMID:24051746, PMID:24105851, PMID:24156272, PMID:24224479, PMID:24248179, PMID:24338212, PMID:24341454, PMID:24599119, PMID:24612839, PMID:24804242, PMID:24860705, PMID:24875928, PMID:24913939, PMID:24949729, PMID:25015771, PMID:25149764, PMID:25262649, PMID:25266519, PMID:25290043, PMID:25358692, PMID:25372295, PMID:25373420, PMID:25394566, PMID:25468468, PMID:25488846, PMID:25491636, PMID:25525159, PMID:25724631, PMID:25741868, PMID:25761933, PMID:25788563, PMID:25910213, PMID:25991456, PMID:25999548, PMID:26022370, PMID:26035154, PMID:26100058, PMID:26188157, PMID:26226137, PMID:26252218, PMID:26346818, PMID:26397989, PMID:26445815, PMID:26467025, PMID:26485571, PMID:26549381, PMID:26683941, PMID:26744121, PMID:26752218, PMID:26763877, PMID:26764160, PMID:26886089, PMID:26894580, PMID:26969326, PMID:27068579, PMID:27090054, PMID:27214836, PMID:27240500, PMID:27247933, PMID:27344577, PMID:27373559, PMID:27541434, PMID:27573290, PMID:27771369, PMID:27792752, PMID:27861301, PMID:27863619, PMID:27884173, PMID:28000701, PMID:28273078, PMID:28281779, PMID:28389359, PMID:28444304, PMID:28492532, PMID:28604962, PMID:28717060, PMID:28786104, PMID:28901477, PMID:28964290, PMID:28984810, PMID:29048421, PMID:29196752, PMID:29293505, PMID:29372807, PMID:29546359, PMID:29739340, PMID:30068397, PMID:30077349, PMID:30139988, PMID:30240412, PMID:30245029, PMID:30268946, PMID:30311386, PMID:30484383, PMID:30622556, PMID:30693673, PMID:30760291, PMID:31599023, PMID:15355436, PMID:14508505, PMID:11152663 RGD:7421514, RGD:7421510, RGD:7411554 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
Thyroid Dyshormonogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
Thyroid Dyshormonogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 1
ClinVar Annotator: match by OMIM:274400
OMIM
ClinVar
PMID:3451231, PMID:3998954, PMID:9171822, PMID:9388506, PMID:9398697, PMID:9486973, PMID:9657379, PMID:9709973, PMID:9745458, PMID:9814502, PMID:10487695, PMID:12161518, PMID:21565787, PMID:25741868, PMID:28492532 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
Thyroid Dyshormonogenesis 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY
ClinVar Annotator: match by term: IODIDE PEROXIDASE DEFICIENCY
ClinVar Annotator: match by OMIM:274500
OMIM
ClinVar
PMID:1401057, PMID:7550241, PMID:8027236, PMID:8964831, PMID:9024270, PMID:9814507, PMID:10084596, PMID:10468986, PMID:11061528, PMID:11238503, PMID:11916616, PMID:12213873, PMID:12843174, PMID:14751036, PMID:15055360, PMID:15279913, PMID:15745925, PMID:16684826, PMID:17468186, PMID:18029453, PMID:23236987, PMID:23512414, PMID:24482635, PMID:24790296, PMID:25241611, PMID:25741868, PMID:26565538, PMID:27373559, PMID:27525530, PMID:27617131, PMID:28492532, PMID:30240412, PMID:30311386 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
Thyroid Dyshormonogenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sla src-like adaptor ISO ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:107,585,055...107,604,950
Ensembl chr 7:107,584,118...107,634,335
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar Annotator: match by OMIM:274700
OMIM
ClinVar
PMID:1752952, PMID:2584351, PMID:7593451, PMID:8094490, PMID:8325944, PMID:9588493, PMID:10199792, PMID:10403171, PMID:10404833, PMID:11484898, PMID:12915634, PMID:14657345, PMID:14764776, PMID:15579800, PMID:15611820, PMID:15769978, PMID:16187910, PMID:16187918, PMID:16403815, PMID:16477365, PMID:16720658, PMID:17033963, PMID:17244789, PMID:19339519, PMID:20410234, PMID:20447071, PMID:20981092, PMID:21128992, PMID:21900383, PMID:21958696, PMID:23164529, PMID:23455760, PMID:23457309, PMID:23535966, PMID:23933148, PMID:24033266, PMID:25741868, PMID:26595189, PMID:26742565, PMID:26777470, PMID:26813946, PMID:27373559, PMID:27498126, PMID:28492532, PMID:29590070, PMID:31042289 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
Thyroid Dyshormonogenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
ClinVar Annotator: match by OMIM:274800
OMIM
ClinVar
PMID:13183981, PMID:13333116, PMID:18434651, PMID:18765512, PMID:25741868 NCBI chr 1:40,086,513...40,100,966
Ensembl chr 1:40,086,470...40,101,840
JBrowse link
Thyroid Dyshormonogenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5
ClinVar Annotator: match by OMIM:274900
OMIM
ClinVar
PMID:18042646, PMID:23292166, PMID:25741868, PMID:28492532 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
JBrowse link
Thyroid Dyshormonogenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6
ClinVar Annotator: match by term: Nongoitrous Euthyroid Hyperthyrotropinemia
ClinVar Annotator: match by OMIM:607200
OMIM
ClinVar
PMID:12110737, PMID:16134168, PMID:16322276, PMID:16608528, PMID:17121535, PMID:17374849, PMID:18765513, PMID:19789206, PMID:20187165, PMID:20972728, PMID:21565790, PMID:21900383, PMID:23457309, PMID:24033266, PMID:24423310, PMID:24735383, PMID:25248169, PMID:25741868, PMID:25928756, PMID:26334177, PMID:26349762, PMID:26709262, PMID:26742565, PMID:26990548, PMID:27108200, PMID:27166716, PMID:27498126, PMID:27557340, PMID:27821020, PMID:28492532, PMID:28541007, PMID:28666341, PMID:30154845, PMID:30240412 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
thyroid hormone resistance syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncoa1 nuclear receptor coactivator 1 ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr 6:28,677,563...28,931,844
Ensembl chr 6:28,677,540...28,931,843
JBrowse link
G Thra thyroid hormone receptor alpha ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr10:86,657,285...86,684,935
Ensembl chr10:86,657,285...86,684,933
JBrowse link
G Thrb thyroid hormone receptor beta susceptibility ISO DNA:missense mutation:exon:p.I276L (human)
ClinVar Annotator: match by term: Thyroid Hormone Resistance
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1324420, PMID:8013151, PMID:9349583, PMID:10660344, PMID:25741868, PMID:15913586 RGD:1601659 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
Thyrotropin-Releasing Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trh thyrotropin releasing hormone ISO OMIM NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome
ClinVar Annotator: match by OMIM:277590
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:4366187, PMID:18414213, PMID:22177091, PMID:22190405, PMID:23239504, PMID:23680131, PMID:24214728, PMID:24728327, PMID:25741868, PMID:26380986, PMID:26694085, PMID:28492532 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weaver syndrome
CTD
ClinVar
PMID:12807965, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868, PMID:30019515 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      hypothyroidism 155
        Bamforth-Lazarus syndrome 2
        Combined Pituitary Hormone Deficiency, 1 6
        Combined Pituitary Hormone Deficiency, 4 2
        Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
        IGSF1 deficiency syndrome 4
        Johanson-Blizzard syndrome 1
        Jung Wolff Back Stahl Syndrome 0
        Thyrotropin-Releasing Hormone Deficiency 1
        Zadik Barak Levin Syndrome 0
        congenital hypothyroidism + 46
        iodine hypothyroidism 0
        myxedema 0
        postsurgical hypothyroidism 0
        thyroid hormone resistance syndrome + 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      endocrine system disease 4986
        thyroid gland disease 367
          hypothyroidism 155
            Bamforth-Lazarus syndrome 2
            Combined Pituitary Hormone Deficiency, 1 6
            Combined Pituitary Hormone Deficiency, 4 2
            Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
            IGSF1 deficiency syndrome 4
            Johanson-Blizzard syndrome 1
            Jung Wolff Back Stahl Syndrome 0
            Thyrotropin-Releasing Hormone Deficiency 1
            Zadik Barak Levin Syndrome 0
            congenital hypothyroidism + 46
            iodine hypothyroidism 0
            myxedema 0
            postsurgical hypothyroidism 0
            thyroid hormone resistance syndrome + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.