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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 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:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:32963807 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:25810047 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 Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 PMID:27060741 PMID:28492532 PMID:28561265 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871 		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: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: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:20972728 PMID:21565790 PMID:24033266 PMID:24423310 PMID:25741868 PMID:26990548 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
familial thyroid dyshormonogenesis 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: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16322276 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 PMID:25248169 PMID:25741868 PMID:26709262 PMID:26990548 PMID:27821020 PMID:28492532 PMID:28666341 PMID:30240412 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933 		JBrowse link
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
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: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:10918302 PMID:11518118 PMID:11701667 PMID:11734632 PMID:15598685 PMID:15771554 PMID:16099238 PMID:16804041 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 PMID:28492532 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: Goiter-deafness syndrome
ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Pendred's 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: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:25214170 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:30113565 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 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 PMID:32860008 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:18765513 PMID:19789206 PMID:20187165 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 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 16085
    syndrome 7041
      hypothyroidism 154
        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 16085
    disease of anatomical entity 15340
      endocrine system disease 5009
        thyroid gland disease 366
          hypothyroidism 154
            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