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
Accession: DOID:1459
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Foxe1
forkhead box E1
ISS
MouseDO
NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Tg
thyroglobulin
ISS
MouseDO
NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Trh
thyrotropin releasing hormone
ISO
OMIM
NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
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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
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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
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all