thyroid gland disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	thyroid gland disease	go back to main search page
Accession:	DOID:50	browse the term
Definition:	An endocrine system disease that is located_in the thyroid. (DO)
Synonyms:	exact_synonym:	Thyroid Disease; Thyroid Diseases
	related_synonym:	ABNORMAL CIRCULATING THYROID HORMONE CONCENTRATION; ABNORMAL THYROID HORMONE LEVEL
	primary_id:	MESH:D013959
	xref:	EFO:1000627; ICD10CM:E07.9; ICD9CM:246.9; MP:0005468; NCI:C26893; OMIM:PS609698
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (570) Mouse (580) Human (4587) Chinchilla (489) Bonobo (524) Dog (546) Squirrel (502) Pig (527) Green Monkey (506) Naked Mole-rat (490) All
Genes (544) Cell Lines (2)

thyroid gland disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,008,187...39,009,932

G

consortin, connexin sorting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:37,278,479...37,400,847
Ensembl chr 7:37,328,609...37,399,390

G

iodothyronine deiodinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,081,894...55,098,560
Ensembl chr 5:55,082,604...55,098,529

G

iodothyronine deiodinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:52,686,211...52,695,226
Ensembl chr 8:52,686,211...52,695,226

G

dual oxidase 2

ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration

PMID:25741868 PMID:28492532

NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716

G

GULP PTB domain containing engulfment adaptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr36:30,108,886...30,248,805
Ensembl chr36:30,108,947...30,265,896

G

inhibitor of DNA binding 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:5,956,924...5,958,833

G

inhibitor of DNA binding 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:75,880,659...75,881,786
Ensembl chr 2:75,880,657...75,882,010

G

integrin subunit beta 5

CTD Direct Evidence: marker/mechanism

NCBI chr33:27,797,204...27,912,558
Ensembl chr33:27,797,667...27,912,584

G

KLF transcription factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,109,310...87,164,636
Ensembl chr 1:87,109,450...87,111,525

G

T-box transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr26:11,694,885...11,709,594
Ensembl chr26:11,696,565...11,708,918

G

trans-golgi network protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:39,681,362...39,690,828

Abnormal Thyroid Hormone Metabolism 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SECIS binding protein 2

ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal 1

PMID:16228000 PMID:24033266 PMID:25741868 PMID:29882503

NCBI chr 1:96,879,840...96,927,583
Ensembl chr 1:96,880,369...96,933,862

Abnormal Thyroid Hormone Metabolism 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

iodothyronine deiodinase 1

ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal, 2

NCBI chr 5:55,081,894...55,098,560
Ensembl chr 5:55,082,604...55,098,529

Autoimmune Hypothyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytotoxic T-lymphocyte associated protein 4

ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE

PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More...

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

autoimmune thyroiditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B cell scaffold protein with ankyrin repeats 1

onset

DNA:SNP: :rs3733197(human)

NCBI chr32:23,322,654...23,603,233
Ensembl chr32:23,323,122...23,602,383

G

CD4 molecule

treatment

NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:SNP: :-318C>T(rs11571302)(human)
ClinVar Annotator: match by term: Hashimoto thyroiditis

PMID:14986169 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 More...

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human)

NCBI chr12:2,305,307...2,307,711

G

MHC class II DR alpha chain

NCBI chr12:2,133,026...2,137,825
Ensembl chr12:2,132,499...2,168,975

G

Fc receptor like 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:40,599,319...40,625,939

G

gap junction protein alpha 1

mRNA,protein:decreased expression, altered expression:thyroid gland:

NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936

G

gap junction protein beta 1

mRNA,protein:decreased expression, altered expression:thyroid gland:

NCBI chr X:55,565,995...55,575,332
Ensembl chr X:55,573,808...55,574,659

G

gap junction protein beta 2

mRNA,protein:decreased expression, altered expression:thyroid gland:

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

MHC class II DLA DRB1 beta chain

DNA:polymorphism (human)

PMID:12126634 PMID:20825955 PMID:21683551

RGD:5147557 RGD:5147571 RGD:5147805

NCBI chr12:2,151,409...2,164,564

G

interferon gamma

mRNA:increased expression:thyroid:

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 17A

protein:increased expression:thyroid gland

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 4

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

severity

associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse)

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

LDL receptor related protein 2

NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546

G

mannose binding lectin 1

susceptibility

DNA:polymorphism:exon:
associated with hepatitis C;DNA:SNP:exon:

PMID:19703233 PMID:22360648

RGD:14696815 RGD:8693703

NCBI chr 4:29,419,886...29,424,377

G

proteasome 20S subunit beta 9

DNA:missense mutation: cds: Arg60His

NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069

G

protein tyrosine phosphatase non-receptor type 22

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

Src like adaptor

ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3

NCBI chr13:29,503,304...29,590,679
Ensembl chr13:29,504,867...29,569,773

G

thyroglobulin

ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3

PMID:8325944 PMID:9588493 PMID:10403171 PMID:10404833 PMID:11484898 More...

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

G

toll like receptor 3

protein:increased expression:thyroid gland (human)

NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247

G

tumor necrosis factor

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

G

zinc finger and AT-hook domain containing

susceptibility

ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3

PMID:11440990 PMID:15294872 PMID:25741868 PMID:25741915 PMID:28940097

NCBI chr13:30,649,971...30,842,941
Ensembl chr13:30,650,654...30,841,543

Bamforth-Lazarus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More...

NCBI chr11:55,143,389...55,145,954

Brain-Lung-Thyroid Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 4, N-acyl phospholipase B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:2,997,112...3,011,524
Ensembl chr 8:2,997,202...3,011,056

G

apoptotic chromatin condensation inducer 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,370,469...3,405,710
Ensembl chr 8:3,371,004...3,405,682

G

adenylate cyclase 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,288,708...4,304,092
Ensembl chr 8:4,288,714...4,304,589

G

ajuba LIM protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,272,408...3,302,179
Ensembl chr 8:3,272,405...3,301,708

G

A-kinase anchoring protein 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:11,403,655...11,882,684
Ensembl chr 8:11,406,280...11,874,406

G

adaptor related protein complex 1 subunit gamma 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,785,085...3,793,081
Ensembl chr 8:3,629,585...3,792,725

G

adaptor related protein complex 4 subunit sigma 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:10,342,988...10,397,171
Ensembl chr 8:10,343,510...10,397,175

G

ADP ribosylation factor 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,445,407...26,449,430
Ensembl chr 8:26,445,647...26,525,530

G

Rho GTPase activating protein 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:11,190,663...11,269,353
Ensembl chr 8:11,204,696...11,267,086

G

Rho guanine nucleotide exchange factor 40

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,161,418...18,178,325
Ensembl chr15:18,160,835...18,179,029

G

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:13,604,694...13,694,508
Ensembl chr 8:13,605,182...13,693,847

G

BCL2 like 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,569,335...3,573,922
Ensembl chr 8:3,569,399...3,586,070

G

BRMS1 like transcriptional repressor

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:14,487,055...14,517,613
Ensembl chr 8:14,487,086...14,516,264

G

chromosome 8 C14orf28 homolog

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:22,366,822...22,378,411
Ensembl chr 8:22,369,790...22,375,025

G

chromosome 8 C14orf93 homolog

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,305,532...3,316,072
Ensembl chr 8:3,305,751...3,316,079

G

capping protein regulator and myosin 1 linker 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,059,154...4,076,385
Ensembl chr 8:4,059,133...4,076,396

G

cerebellin 3 precursor

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,399,188...4,402,478
Ensembl chr 8:4,400,462...4,401,754

G

cadherin 24

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,359,452...3,369,590
Ensembl chr 8:3,359,875...3,367,942

G

CCAAT enhancer binding protein epsilon

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,423,046...3,425,595
Ensembl chr 8:3,423,040...3,425,217

G

cofilin 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:13,578,152...13,582,408
Ensembl chr 8:13,580,360...13,582,442

G

chromodomain helicase DNA binding protein 8

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,430,601...18,492,564
Ensembl chr15:18,431,019...18,491,920

G

charged multivesicular body protein 4A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,195,766...4,200,101
Ensembl chr 8:4,195,975...4,200,086

G

cell death inducing DFFA like effector b

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,275,700...4,278,612

G

C-type lectin domain containing 14A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:16,609,425...16,612,772
Ensembl chr 8:16,611,240...16,612,709

G

chymase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189

G

CKLF like MARVEL transmembrane domain containing 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,625,246...3,627,964
Ensembl chr 8:3,625,309...3,661,444

G

cochlin

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550

G

copine 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,046,532...4,058,498
Ensembl chr 8:4,046,544...4,084,744

G

copine 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,078,240...4,084,744
Ensembl chr 8:4,046,544...4,084,744

G

cathepsin G

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,483,327...4,485,933
Ensembl chr 8:4,470,577...4,512,628

G

defender against cell death 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:2,963,719...2,984,978

G

DDB1 and CUL4 associated factor 11

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,115,756...4,124,329
Ensembl chr 8:4,116,912...4,123,596

G

dehydrogenase/reductase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,263,707...4,269,453
Ensembl chr 8:4,263,700...4,270,271

G

dehydrogenase/reductase 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,820,269...3,847,217
Ensembl chr 8:3,836,476...3,845,916

G

D-aminoacyl-tRNA deacylase 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:10,694,999...10,706,155
Ensembl chr 8:10,696,505...10,706,060

G

E2F associated phosphoprotein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:13,316,239...13,399,221
Ensembl chr 8:13,375,980...13,399,173

G

epididymal protein 3B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,017,182...18,020,521

G

embryonal Fyn-associated substrate

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,600,597...3,612,563
Ensembl chr 8:3,600,589...3,613,947

G

egl-9 family hypoxia inducible factor 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:12,873,755...12,901,728
Ensembl chr 8:12,875,387...12,901,709

G

ER membrane protein complex subunit 9

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,133,997...4,136,144
Ensembl chr 8:4,134,020...4,136,290

G

family with sequence similarity 177 member A1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:13,844,565...13,862,619
Ensembl chr 8:13,844,685...13,860,889

G

FA complementation group M

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994

G

F-box protein 33

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:17,495,795...17,528,389
Ensembl chr 8:17,462,937...17,528,249

G

fat storage inducing transmembrane protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,127,148...4,128,779
Ensembl chr 8:4,127,488...4,128,794

G

FKBP prolyl isomerase 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:22,550,241...22,560,501
Ensembl chr 8:22,550,413...22,560,465

G

forkhead box A1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807

G

forkhead box G1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:8,276,300...8,279,785

G

fibrous sheath CABYR binding protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:22,004,599...22,033,057
Ensembl chr 8:22,004,789...22,007,425

G

G2/M-phase specific E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:9,914,276...9,968,798
Ensembl chr 8:9,914,008...9,965,623

G

gem nuclear organelle associated protein 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:17,305,884...17,328,698
Ensembl chr 8:17,305,907...17,328,582

G

guanosine monophosphate reductase 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,213,238...4,220,740
Ensembl chr 8:4,213,373...4,220,740

G

G protein-coupled receptor 33

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:10,718,470...10,720,029
Ensembl chr 8:10,719,010...10,720,029

G

granzyme B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,508,718...4,511,824
Ensembl chr 8:4,470,577...4,512,628

G

HEAT repeat containing 5A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:10,561,723...10,673,506
Ensembl chr 8:10,562,425...10,658,597

G

HECT domain E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:10,399,183...10,493,074
Ensembl chr 8:10,400,604...10,491,247

G

homeobox and leucine zipper encoding

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,545,434...3,558,923
Ensembl chr 8:3,545,472...3,558,440

G

interleukin 25

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043

G

INSM transcriptional repressor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:14,217,694...14,220,661
Ensembl chr 8:14,217,785...14,219,458

G

importin 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,171,525...4,180,666
Ensembl chr 8:4,171,527...4,181,151

G

interferon regulatory factor 9

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,152,146...4,157,201

G

junctophilin 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,793,413...3,803,831
Ensembl chr 8:3,794,734...3,802,082

G

KH and NYN domain containing

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,402,719...4,411,688
Ensembl chr 8:4,403,201...4,411,598

G

kelch domain containing 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,305,675...26,347,638
Ensembl chr 8:26,305,531...26,347,407

G

kelch domain containing 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,353,986...26,365,077
Ensembl chr 8:26,353,871...26,364,914

G

kelch like family member 28

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:22,387,057...22,420,491
Ensembl chr 8:22,391,451...22,405,141

G

L-2-hydroxyglutarate dehydrogenase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,721,501...26,760,411
Ensembl chr 8:26,723,309...26,760,984

G

uncharacterized LOC106559796

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,024,375...18,025,871

G

ribonuclease pancreatic-like

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,034,337...18,065,925
Ensembl chr15:18,037,298...18,066,333

G

heterogeneous nuclear ribonucleoprotein C

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,239,810...18,299,065

G

magnesium-dependent phosphatase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,200,466...4,201,945
Ensembl chr 8:4,200,472...4,201,950

G

uncharacterized protein C14orf119 homolog

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr33:16,805,934...16,806,688

G

leucine rich repeat and fibronectin type III domain containing 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:19,365,786...19,602,551
Ensembl chr 8:19,367,570...19,602,185

G

LDL receptor related protein 10

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,208,710...3,214,888
Ensembl chr 8:3,208,269...3,382,311

G

leucine rich repeat protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,229,293...26,241,617
Ensembl chr 8:26,229,018...26,240,716

G

leukotriene B4 receptor

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,282,924...4,286,869
Ensembl chr 8:4,285,323...4,286,534

G

leukotriene B4 receptor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,278,047...4,282,326
Ensembl chr 8:4,280,869...4,281,948

G

MAP3K12 binding inhibitory protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:14,883,317...14,908,664
Ensembl chr 8:14,886,638...14,908,610

G

MAM domain containing glycosylphosphatidylinositol anchor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:23,827,284...24,608,003
Ensembl chr 8:23,832,475...24,607,866

G

methyltransferase like 17

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,094,731...18,099,161

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,528,755...18,546,303
Ensembl chr15:18,528,772...18,546,531

G

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,244,894...26,247,960
Ensembl chr 8:26,245,407...26,246,747

G

MIA SH3 domain ER export factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:17,390,738...17,482,421

G

mirror-image polydactyly 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:15,709,214...16,036,956
Ensembl chr 8:15,774,974...16,077,325

G

microRNA mir-208a

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,636,919...3,636,987
Ensembl chr 8:3,636,919...3,636,987

G

microRNA mir-208b

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,665,163...3,665,236
Ensembl chr 8:3,665,163...3,665,236

G

MIS18 binding protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:22,626,082...22,673,550
Ensembl chr 8:22,525,301...22,668,507

G

matrix metallopeptidase 14

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122

G

mitochondrial ribosomal protein L52

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,177,010...3,181,526
Ensembl chr 8:3,177,093...3,181,518

G

myosin heavy chain 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

G

myosin heavy chain 7

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725

G

NDRG family member 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,106,651...18,115,026
Ensembl chr15:18,106,654...18,113,970

G

NEDD8 ubiquitin like modifier

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,202,621...4,213,090
Ensembl chr 8:4,202,621...4,213,049

G

nuclear export mediator factor

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,364,664...26,411,475
Ensembl chr 8:26,364,838...26,411,424

G

nuclear factor of activated T cells 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,337,098...4,346,409
Ensembl chr 8:4,336,450...4,346,100

G

NFKB inhibitor alpha

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

neuroguidin

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,704,430...3,713,517
Ensembl chr 8:3,705,005...3,713,517

G

NK2 homeobox 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress

PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More...

G

NK2 homeobox 8

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:15,149,318...15,151,884
Ensembl chr 8:15,149,308...15,151,661

G

NOP9 nucleolar protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,270,192...4,275,722
Ensembl chr 8:4,270,243...4,275,677

G

NOVA alternative splicing regulator 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:6,133,608...6,281,508
Ensembl chr 8:6,135,679...6,281,384

G

neuronal PAS domain protein 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:11,959,895...12,799,448

G

neural retina leucine zipper

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,086,487...4,090,373
Ensembl chr 8:4,086,508...4,089,216

G

NUBP iron-sulfur cluster assembly factor, mitochondrial

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920

G

NYN domain and retroviral integrase containing

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,368,702...4,389,565
Ensembl chr 8:4,368,560...4,387,842

G

olfactory receptor family 4 subfamily H member 12

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:17,321,371...17,322,875
Ensembl chr15:17,321,380...17,322,309

G

OXA1L mitochondrial inner membrane protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,108,669...3,132,337
Ensembl chr 8:3,108,757...3,132,334

G

poly(A) binding protein nuclear 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,580,768...3,585,546
Ensembl chr 8:3,569,399...3,586,070

G

paired box 9

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099

G

phosphoenolpyruvate carboxykinase 2, mitochondrial

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,099,016...4,107,870
Ensembl chr 8:4,098,671...4,107,865

G

pinin, desmosome associated protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:17,354,004...17,361,462
Ensembl chr 8:17,354,004...17,361,462

G

DNA polymerase epsilon 2, accessory subunit

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,264,220...26,295,089
Ensembl chr 8:26,251,160...26,295,317

G

protein phosphatase 1 regulatory subunit 3E

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,559,296...3,564,849
Ensembl chr 8:3,563,457...3,564,524

G

protein phosphatase 2 regulatory subunit B''gamma

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:13,863,017...13,885,245
Ensembl chr 8:13,863,380...13,885,130

G

protein kinase D1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:9,004,641...9,327,054
Ensembl chr 8:9,005,115...9,328,358

G

protein arginine methyltransferase 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456

G

protein only RNase P catalytic subunit

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:13,885,734...14,007,224

G

pre-mRNA processing factor 39

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:22,510,816...22,549,481
Ensembl chr 8:22,511,329...22,549,226

G

proteasome 20S subunit alpha 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:14,010,899...14,038,141
Ensembl chr 8:14,010,939...14,038,134

G

proteasome subunit beta 11

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,355,239...3,356,505

G

proteasome 20S subunit beta 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,344,157...3,349,921
Ensembl chr 8:3,344,233...3,349,926

G

proteasome activator subunit 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,131,197...4,134,001
Ensembl chr 8:4,131,345...4,134,006

G

proteasome activator subunit 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,137,247...4,141,380
Ensembl chr 8:4,137,247...4,140,706

G

RAB2B, member RAS oncogene family

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,494,417...18,512,144
Ensembl chr15:18,495,891...18,512,030

G

Rab geranylgeranyltransferase subunit alpha

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,244,731...4,250,836
Ensembl chr 8:4,244,781...4,250,744

G

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998

G

RNA binding motif protein 23

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,233,715...3,247,014
Ensembl chr 8:3,234,859...3,246,981

G

REC8 meiotic recombination protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,165,637...4,171,488
Ensembl chr 8:4,165,879...4,171,486

G

RRAD and GEM like GTPase 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,215,023...3,223,470
Ensembl chr 8:3,208,269...3,382,311

G

receptor interacting serine/threonine kinase 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

RNA, 7SL, cytoplasmic 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,223,712...26,224,010
Ensembl chr 8:26,223,712...26,224,011

G

ribonuclease A family member 13 (inactive)

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,122,227...18,123,978
Ensembl chr15:18,122,946...18,123,719

G

ribonuclease, RNase A family, 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631

G

ring finger protein 212B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,509,481...3,552,600
Ensembl chr 8:3,509,638...3,544,740

G

ring finger protein 31

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,141,501...4,151,999

G

RPGR interacting protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735

G

ribosomal protein L10 like

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:23,671,961...23,673,085
Ensembl chr 8:23,672,388...23,673,032

G

ribosomal protein L36a like

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,243,619...26,244,780
Ensembl chr 8:26,243,617...26,245,386

G

ribosomal protein S29

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,221,546...26,223,580

G

spalt like transcription factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,558,181...18,571,941
Ensembl chr15:18,558,178...18,561,547

G

sec1 family domain containing 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:9,970,724...10,077,123
Ensembl chr 8:9,970,790...10,077,122

G

short chain dehydrogenase/reductase family 39U member 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,412,944...4,416,013
Ensembl chr 8:4,412,951...4,416,013

G

SEC23 homolog A, COPII coat complex component

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:17,205,960...17,292,067
Ensembl chr 8:17,234,394...17,292,638

G

solute carrier family 22 member 17

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,594,572...3,600,380
Ensembl chr 8:3,594,572...3,600,286

G

solute carrier family 25 member 21

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:15,239,634...15,708,964
Ensembl chr 8:15,238,719...15,708,526

G

solute carrier family 39 member 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,099,310...18,102,884
Ensembl chr15:18,100,785...18,102,896

G

solute carrier family 7 member 7

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832

G

solute carrier family 7 member 8

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985

G

sorting nexin 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:13,460,676...13,520,282
Ensembl chr 8:13,460,947...13,520,423

G

SOS Ras/Rho guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,636,849...26,698,837
Ensembl chr 8:26,637,895...26,717,781

G

serine palmitoyltransferase small subunit A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

G

signal recognition particle 54

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:13,800,275...13,837,799
Ensembl chr 8:13,677,760...13,837,722

G

somatostatin receptor 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:16,571,069...16,575,730

G

striatin 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:10,232,436...10,344,238
Ensembl chr 8:10,233,819...10,344,033

G

syntaxin binding protein 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,638,376...4,877,589
Ensembl chr 8:4,641,460...4,877,030

G

SPT16 homolog, facilitates chromatin remodeling subunit

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,387,624...18,429,553
Ensembl chr15:18,388,512...18,429,553

G

transglutaminase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644

G

thiamine triphosphatase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,781,931...3,785,093
Ensembl chr 8:3,782,163...3,785,394

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512

G

transmembrane 9 superfamily member 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,180,496...4,186,249

G

transmembrane protein 253

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,187,622...18,194,700
Ensembl chr15:18,187,616...18,193,427

G

TOG array regulator of axonemal microtubules 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:22,420,718...22,499,435
Ensembl chr 8:22,420,584...22,497,671

G

TOX high mobility group box family member 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,512,270...18,528,293
Ensembl chr15:18,512,327...18,528,516

G

tubulin polymerization promoting protein family member 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,118,516...18,126,661
Ensembl chr15:18,119,594...18,126,663

G

trafficking protein particle complex subunit 6B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:17,335,060...17,350,163
Ensembl chr 8:17,336,154...17,350,000

G

testis specific serine kinase 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:4,192,060...4,195,052
Ensembl chr 8:4,192,230...4,194,685

G

tetratricopeptide repeat domain 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:16,177,345...16,282,540
Ensembl chr 8:16,108,988...16,282,207

G

valosin containing protein lysine methyltransferase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:26,611,333...26,636,700
Ensembl chr 8:26,625,677...26,636,316

G

zinc finger homeobox 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr 8:3,750,043...3,782,679
Ensembl chr 8:3,750,230...3,763,829

G

zinc finger protein 219

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr15:18,178,861...18,186,650
Ensembl chr15:18,180,901...18,192,773

BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 More...

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

Chronic Thyroiditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

susceptibility

DNA:polymorphism:cds:+874A>T(human)

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

congenital hypothyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 2/3 complex subunit 5

protein:decreased expression:frontal cortex (rat)

NCBI chr 7:16,976,392...16,986,015
Ensembl chr 7:16,977,555...16,985,943

G

bone gamma-carboxyglutamate protein

mRNA,protein:decreased expression:skull, serum

NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791

G

dual oxidase 2

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:12110737 PMID:16322276 PMID:16608528 PMID:17121535 PMID:18765513 More...

NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716

G

dual oxidase maturation factor 2

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749

NCBI chr30:11,541,849...11,546,019
Ensembl chr30:11,542,078...11,545,811

G

early growth response 1

NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575

G

forkhead box E1

NCBI chr11:55,143,389...55,145,954

G

glucose-6-phosphate dehydrogenase

protein:decreased expression:hippocampus

NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678

G

growth hormone receptor

treatment

NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473

G

insulin like growth factor 1

protein:decreased expression:serum (rat)

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

immunoglobulin superfamily member 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:102,359,980...102,376,838
Ensembl chr X:102,359,986...102,377,018

G

inhibin subunit beta B

mRNA:decreased expression:testes (rat)

NCBI chr19:29,765,697...29,768,485
Ensembl chr19:29,767,682...29,768,077

G

iodotyrosine deiodinase

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr 1:40,890,402...40,908,437
Ensembl chr 1:40,890,435...40,908,439

G

ATP synthase subunit d, mitochondrial-like

protein:altered expression:cerebral cortex (rat)

NCBI chr 7:66,856,651...66,857,162

G

neurofilament heavy chain

protein:decreased expression, increased phosphorylation

NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125

G

neurofilament light chain

protein:decreased expression, increased phosphorylation

NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224

G

neurofilament medium chain

protein:decreased expression, increased phosphorylation

NCBI chr25:32,493,517...32,498,615
Ensembl chr25:32,493,675...32,498,570

G

nerve growth factor receptor

treatment

NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274

G

paired box 8

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:16763387 PMID:25146893 PMID:26362610

NCBI chr17:37,307,130...37,331,729
Ensembl chr17:37,306,033...37,363,178

G

PPARG coactivator 1 alpha

mRNA:decreased expression:cerebellum (rat)

NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269

G

RUNX family transcription factor 2

NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212

G

solute carrier family 26 member 7

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr29:36,616,054...36,729,705
Ensembl chr29:36,615,676...36,726,803

G

solute carrier family 5 member 5

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:3998954 PMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749

NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209

G

thyroglobulin

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 More...

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

G

thyroid peroxidase

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532

NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043

G

thyrotropin releasing hormone receptor

NCBI chr13:9,642,565...9,681,778
Ensembl chr13:9,642,387...9,674,831

G

thyroid stimulating hormone subunit beta

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532

NCBI chr17:52,659,137...52,685,388
Ensembl chr17:52,681,357...52,685,390

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:11442002 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 More...

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

G

tubulin beta 1 class VI

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 More...

NCBI chr24:43,759,078...43,768,556
Ensembl chr24:43,759,555...43,771,737

Congenital Nongoitrous Hypothyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 128

ClinVar Annotator: match by term: TSH RESISTANCE

PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More...

NCBI chr 8:52,915,455...53,311,963
Ensembl chr 8:52,916,182...53,311,733

G

immunoglobulin superfamily member 1

ClinVar Annotator: match by term: TSH RESISTANCE

PMID:25741868 PMID:28492532

NCBI chr X:102,359,980...102,376,838
Ensembl chr X:102,359,986...102,377,018

G

thyroid peroxidase

ClinVar Annotator: match by term: TSH RESISTANCE

NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE

PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More...

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

congenital nongoitrous hypothyroidism 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 128

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1

PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More...

NCBI chr 8:52,915,455...53,311,963
Ensembl chr 8:52,916,182...53,311,733

G

immunoglobulin superfamily member 1

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1

PMID:25741868 PMID:28492532

NCBI chr X:102,359,980...102,376,838
Ensembl chr X:102,359,986...102,377,018

G

thyroid peroxidase

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1

NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1

PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More...

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

congenital nongoitrous hypothyroidism 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box protein 31

ClinVar Annotator: match by term: Ectopic thyroid

PMID:32989326 PMID:33675180

NCBI chr 5:65,703,591...65,734,956
Ensembl chr 5:65,703,575...65,731,056

G

paired box 8

ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2

PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 More...

NCBI chr17:37,307,130...37,331,729
Ensembl chr17:37,306,033...37,363,178

congenital nongoitrous hypothyroidism 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid stimulating hormone subunit beta

ClinVar Annotator: match by term: Pituitary cretinism

PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More...

NCBI chr17:52,659,137...52,685,388
Ensembl chr17:52,681,357...52,685,390

congenital nongoitrous hypothyroidism 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NK2 homeobox 5

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5

PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More...

NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592

congenital nongoitrous hypothyroidism 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor subfamily 1 group D member 1

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6

PMID:11075809 PMID:25741868 PMID:34008892

NCBI chr 9:22,461,556...22,469,243
Ensembl chr 9:22,461,705...22,469,053

G

thyroid hormone receptor alpha

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6

PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 More...

NCBI chr 9:22,469,466...22,493,445
Ensembl chr 9:22,468,594...22,493,445

congenital nongoitrous hypothyroidism 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyrotropin releasing hormone receptor

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7

PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241

NCBI chr13:9,642,565...9,681,778
Ensembl chr13:9,642,387...9,674,831

congenital nongoitrous hypothyroidism 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transducin beta like 1 X-linked

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8

PMID:25741868 PMID:27603907 PMID:30591955

NCBI chr X:6,222,794...6,432,561

congenital nongoitrous hypothyroidism 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin receptor substrate 4

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9

PMID:25741868 PMID:30061370

NCBI chr X:82,275,642...82,292,398
Ensembl chr X:82,276,187...82,292,375

dystransthyretinemic hyperthyroxinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transthyretin

ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic

PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1358785 More...

NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058

euthyroid sick syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

treatment

associated with congestive heart failure

NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388

Familial Dysalbuminemic Hyperthyroxinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

severity

ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1 | ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic

OMIM
ClinVar
RGD

PMID:683332 PMID:1859851 PMID:1946412 PMID:2104980 PMID:2226433 More...

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

familial gestational hyperthyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 128

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 8:52,915,455...53,311,963
Ensembl chr 8:52,916,182...53,311,733

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Familial gestational hyperthyroidism

PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 More...

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

familial medullary thyroid carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin receptor related receptor

ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary

NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940

G

neurotrophic receptor tyrosine kinase 1

ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary

PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 More...

NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288

G

prolactin receptor

OMIM:155240

NCBI chr 4:73,147,919...73,280,970
Ensembl chr 4:73,110,858...73,273,916

G

ret proto-oncogene

ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary

PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

familial thyroid dyshormonogenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dual oxidase 2

ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis

PMID:12110737 PMID:16322276 PMID:18765513 PMID:20972728 PMID:21565790 More...

NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716

G

solute carrier family 5 member 5

ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect

NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209

G

thyroglobulin

ClinVar Annotator: match by term: Thyroid dyshormonogenesis

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

Follicular Thyroid Cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2

PMID:12068308 PMID:12198537 PMID:12960123 PMID:14679157 PMID:15035987 More...

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

chromobox 7

protein:decreased expression:thyroid gland:

NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501

G

glycoprotein hormones, alpha polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2

PMID:12727991 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More...

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2

PMID:12727991 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More...

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

multiple inositol-polyphosphate phosphatase 1

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2

NCBI chr26:37,585,096...37,629,221
Ensembl chr26:37,586,727...37,626,618

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

paired box 8

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,307,130...37,331,729
Ensembl chr17:37,306,033...37,363,178

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

SLIT-ROBO Rho GTPase activating protein 1

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2

PMID:23539728 PMID:25741868 PMID:28492532

NCBI chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677

Generalized Thyroid Hormone Resistance, Autosomal Dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid hormone receptor beta

ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant

PMID:1159077 PMID:1314846 PMID:1324420 PMID:1358935 PMID:1400869 More...

NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283

Generalized Thyroid Hormone Resistance, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid hormone receptor beta

ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive

PMID:1653889 PMID:1682340 PMID:1991834 PMID:4163616 PMID:8013151 More...

NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283

goiter

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,705,789...42,860,701
Ensembl chr X:42,704,627...42,853,812

G

solute carrier family 26 member 4

CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human)

PMID:12974744 PMID:15279074 PMID:16053392 PMID:17322586

NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212

G

TEK receptor tyrosine kinase

mRNA:increased expression:thyroid

NCBI chr11:45,278,375...45,377,300
Ensembl chr11:45,278,891...45,409,093

G

thyroglobulin

susceptibility

CTD Direct Evidence: marker/mechanism
associated with Hypothyroidism;DNA:deletion:exon

PMID:1752952 PMID:8094490 PMID:24582622

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

G

thyroid peroxidase

CTD Direct Evidence: marker/mechanism

PMID:12564727 PMID:14751036 PMID:17547680

NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043

Graves ophthalmopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catalase

treatment

protein:decreased activity:blood:
protein:increased activity:plasma:

PMID:15158621 PMID:20394549

RGD:9071200 RGD:9086875

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

C-C motif chemokine ligand 2

mRNA:increased expression:orbital fat (human)

NCBI chr 9:39,008,187...39,009,932

G

cytotoxic T-lymphocyte associated protein 4

severity
no_association

protein:increased expression:serum:
associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)

PMID:16893393 PMID:19734241 PMID:22663548

RGD:7421511 RGD:7421521 RGD:7421523

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

intercellular adhesion molecule 1

DNA:polymorphism: :c.1405A>G (human)

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interferon gamma

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

insulin like growth factor 1

mRNA,protein:increased expression,increased excretion:orbital tissue:

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

interleukin 10

DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum

PMID:11753760 PMID:21067483

RGD:7364859 RGD:7365083

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 18

treatment

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 alpha

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 receptor antagonist

susceptibility
severity

DNA:snp:exon:11100 C>T (rs315952) (human)
protein:increased expression:serum (human)

PMID:12186498 PMID:19702713

RGD:7387296 RGD:8549808

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 2

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 23 receptor

no_association
susceptibility

DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)

PMID:18073300 PMID:22663548

RGD:7421521 RGD:8549554

NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474

G

interleukin 3

DNA: SNP: : rs40401

NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668

G

kinesin family member 1A

NCBI chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964

G

peroxisome proliferator activated receptor gamma

mRNA:increased expression:orbital fat (human)

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

protein tyrosine phosphatase non-receptor type 22

DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human)

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

stearoyl-CoA desaturase

CTD Direct Evidence: marker/mechanism

NCBI chr28:13,112,741...13,129,129
Ensembl chr28:13,113,006...13,125,801

G

serpin family E member 1

severity

associated with Graves Disease;protein:increased expression:tears (human)

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

tumor necrosis factor

susceptibility

DNA:SNP:promoter:-863C>A (human)
DNA:SNP:promoter:-238G>A (rs361525) (human)

PMID:8444271 PMID:15219383 PMID:16191343

RGD:12904066 RGD:7365073 RGD:7794734

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

thyroid stimulating hormone receptor

severity

CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs179247 (human)

PMID:20237164 PMID:22673349 PMID:31705858

RGD:8548662 RGD:8548673

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

Graves' disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

severity

protein:increased expression:serum
associated with thyroid diseases; protein:increased expression:serum

PMID:18997483 PMID:20583542

RGD:5686818 RGD:5686857

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

adrenoceptor beta 2

susceptibility

DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human)

NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:13,926,759...14,105,069
Ensembl chr 4:13,927,217...14,101,364

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:62,170,262...62,239,010
Ensembl chr10:62,145,117...62,146,310
Ensembl chr10:62,145,117...62,146,310

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

butyrophilin like 2

onset

DNA:SNP: :rs17577980(human)

NCBI chr12:2,085,589...2,106,787
Ensembl chr12:2,086,324...2,107,124

G

catalase

treatment

protein:decreased activity:erythrocyte:

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

CD4 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771

G

CD40 molecule

onset
no_association

DNA:SNP
DNA:SNP:5' utr:-1C>T (human)

PMID:12593727 PMID:15307939 PMID:18755875

RGD:8547766 RGD:8547769 RGD:8547778

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

CD40 ligand

treatment

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

cytotoxic T-lymphocyte associated protein 4

susceptibility
no_association

CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human)
DNA:SNP:promoter:-318C>T (human)
DNA:polymorphism:exon:49G>A(human)
DNA:SNP: :rs231779(human)
DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human)
DNA:SNP: :-318C>T(rs11571302)(human)

PMID:9672157 PMID:9861324 PMID:10369864 PMID:10404810 PMID:12780750 More...

RGD:11352245 RGD:1300388 RGD:2302000 RGD:2302001 RGD:7421505 RGD:7421507 RGD:7421515 RGD:7421517

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

cytochrome P450 family 1 subfamily A member 1

associated with Herpesviridae Infections

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

major histocompatibility complex, class II, DQ beta 1

susceptibility

DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human)
DNA:polymorphism:cds:HLA-DQB1*0602 (human)

PMID:10468909 PMID:11272094

RGD:7421572 RGD:7483568

NCBI chr12:2,305,307...2,307,711

G

MHC class I DLA-88

onset
susceptibility

DNA:polymorphism:cds:HLA-B8 (human)
DNA:polymorphism:cds:HLA-B*46 (human)
DNA:polymorphism, haplotype:cds:HLA-B*5801 (human)
DNA:polymorphism:cds:HLA-B39 (human)
DNA:polymorphism, haplotype:cds:HLA-B8 (human)

PMID:2401095 PMID:8096501 PMID:8894996 PMID:12694583 PMID:23329888

RGD:7365094 RGD:7365098 RGD:7365110 RGD:7365112 RGD:7365118

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

DNA methyltransferase 1

treatment

DNA:polymorphism: :32204 G>A(human)

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

G

estrogen receptor 2

susceptibility
no_association

DNA:snp:intron:IVS8G>A (rs4986938) (human)
DNA:repeat

PMID:11180758 PMID:17941906

RGD:10045850 RGD:8693348

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

Fas cell surface death receptor

protein:increased expression:thyroid gland, thyrocyte (human)

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

Fc receptor like 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:40,599,319...40,625,939

G

FKBP prolyl isomerase 1B

NCBI chr17:18,534,295...18,544,973
Ensembl chr17:18,534,741...18,544,943

G

GC vitamin D binding protein

susceptibility

DNA:repeats:intron
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.T420K(human)

PMID:12050214 PMID:16868893

RGD:5509883 RGD:5509886

NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism: :

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphism: :HLA-DRB1*12:02, HLA-DRB1*16:02(human)
DNA:polymorphism: :HLA-DRB1*0301(human)
DNA:polymorphism: :HLA-DRB1*03(human)

PMID:11263477 PMID:15219383 PMID:21307958

RGD:7365065 RGD:7365073 RGD:7365089

NCBI chr12:2,151,409...2,164,564

G

intercellular adhesion molecule 1

no_association
onset

DNA:SNP: :p.K469E (rs5498) (human)
protein:increased expression:blood, lymphocyte
DNA:polymorphism: :c.721G>A (human)

PMID:12357047 PMID:14557478 PMID:17873320

RGD:8158121 RGD:8158124 RGD:8547702

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048

G

interferon gamma

susceptibility
treatment

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
DNA:polymorphism:cds:+874A>T(human)
DNA:repeats:intron:
DNA:microsatellite repeats:intron:

PMID:2125901 PMID:9848715 PMID:15068623 PMID:15544617 PMID:16970687 More...

RGD:8142372 RGD:8142373 RGD:8142393 RGD:8157599 RGD:8157604

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

insulin like growth factor 1

mRNA,protein:increased expression:thyroid gland:

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor 1 receptor

protein: increased expression: blood: T cells and B cells

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

interleukin 10

no_association

DNA:SNP: :rs1800896 (human)
DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human)
DNA:SNPs:promoter:multiple
protein:increased expression:serum

PMID:15497451 PMID:19250272 PMID:19882211 PMID:21424183

RGD:7364858 RGD:7364862 RGD:7365026 RGD:7365074

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 13

disease_progression
susceptibility

DNA:SNP:promoter:-1112C>T (rs1800925) (human)
DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human)

PMID:15483090 PMID:21235536

RGD:7829719 RGD:8549544

NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388

G

interleukin 17A

susceptibility

DNA:snp:intron:IVS1+18G>A (rs3819025) (human)
CTD Direct Evidence: marker/mechanism

PMID:22816799 PMID:33132244

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 18

no_association

DNA:SNPs:promoter, exon:multiple
protein:increased expression:serum

PMID:12689659 PMID:16571086

RGD:8655878 RGD:8655916

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 beta

DNA:SNP:promoter:-511C>T (human)

PMID:2674184 PMID:16025481

RGD:7401177 RGD:7401207

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 2

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 23 receptor

susceptibility
no_association

DNA:SNP: :rs7530511(human)
DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)

PMID:18073300 PMID:19021011

RGD:8549554 RGD:8549564

NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474

G

interleukin 3

DNA: SNP: : rs40401

NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 6

disease_progression

protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-572C>G(human)

PMID:12818091 PMID:16372246 PMID:21235536

RGD:7829719 RGD:7829750

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interleukin 6 receptor

disease_progression

protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism

PMID:12818091 PMID:16372246

NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090

G

integrin subunit beta 3

NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451

G

complement C4-A

NCBI chr12:1,433,185...1,448,056

G

lymphotoxin alpha

no_association

DNA:polymorphism

PMID:1346144 PMID:7928443

RGD:8548778 RGD:8548790

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

methylenetetrahydrofolate reductase

susceptibility

DNA:SNP:cds:677C>T(human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

8-oxoguanine DNA glycosylase

DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human)

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

programmed cell death 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723

G

protein tyrosine phosphatase non-receptor type 22

no_association

CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human)
DNA: SNP: cds: C1858T
DNA:SNP, haplotype:promoter:-1123G>C (human)

PMID:15504986 PMID:17608818 PMID:18687223 PMID:21190368

RGD:6484538 RGD:7829738 RGD:7829763

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

ribonuclease T2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:54,779,453...54,820,697

G

serpin family E member 1

treatment

protein:increased expression:tears (human)

PMID:11980614 PMID:22385289

RGD:8547709 RGD:8547756

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

signal transducer and activator of transcription 4

NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894

G

signal transducer and activator of transcription 6

NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075

G

thyroglobulin

treatment
no_association

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
DNA:SNP:exon
DNA:SNPs:exon:multiple
DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human)

PMID:95586 PMID:14636875 PMID:17550957 PMID:18656705 PMID:22662162 More...

RGD:8548606 RGD:8548630 RGD:8548643 RGD:8548644 RGD:8548645

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

G

tumor necrosis factor

susceptibility

DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human)
DNA:SNP: :-308G>A(rs1800629)(human)
DNA:polymorphism: :-863A>C

PMID:15219383 PMID:17348243 PMID:19732761

RGD:7365073 RGD:7394790 RGD:7394807

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

G

tumor protein p53

susceptibility

DNA:polymorphism:cds:p.p.R72P(human)

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

thyroid peroxidase

CTD Direct Evidence: marker/mechanism

NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043

G

thyroid stimulating hormone subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,659,137...52,685,388
Ensembl chr17:52,681,357...52,685,390

G

thyroid stimulating hormone receptor

no_association
treatment

DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human)
DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism
DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human)
DNA:SNPs:intron:rs179247, rs12101255 (human)
DNA:polymorphism: :pD727E (human)

PMID:1955520 PMID:7828357 PMID:9528975 PMID:11887032 PMID:19244275 More...

RGD:8548654 RGD:8548655 RGD:8548656 RGD:8548657 RGD:8548661 RGD:8548663 RGD:8548664 RGD:8548665 RGD:8548669

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

G

vitamin D receptor

no_association

DNA:SNPs: :rs1544410, rs10735810 (human)
DNA:SNPs: :rs731236, rs7975232 (human)
DNA:SNP: :rs2228570 (human)
DNA:SNPs: :rs1544410, rs7975232 (human)
DNA:polymorphisms, haplotype
DNA:SNP:exon:rs2228570 (human)

PMID:11134121 PMID:16100768 PMID:16279845 PMID:17506475

RGD:8157624 RGD:8157628 RGD:8157632 RGD:8158053

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

G

vascular endothelial growth factor A

DNA:SNPs: :-2578A>C,-460T>C,405G>C(human)

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

Hashimoto Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B cell scaffold protein with ankyrin repeats 1

susceptibility

DNA:SNP: :rs3733197(human)

NCBI chr32:23,322,654...23,603,233
Ensembl chr32:23,323,122...23,602,383

G

complement C1s

CTD Direct Evidence: marker/mechanism

NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575

G

catalase

protein:increased activity:plasma:

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

CD40 molecule

protein:increased expression:serum

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

CD40 ligand

protein:increased expression:serum

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

ClinVar Annotator: match by term: Hashimoto Disease

PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More...

NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874

G

major histocompatibility complex, class II, DQ beta 1

susceptibility

associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human)
DNA:polymorphisms (human)

PMID:8157715 PMID:19254248

RGD:5147613 RGD:7483569

NCBI chr12:2,305,307...2,307,711

G

estrogen receptor 2

no_association

DNA:repeat

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

Fas cell surface death receptor

severity

protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human)

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphisms (human)

NCBI chr12:2,151,409...2,164,564

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:throcyte:

NCBI chr37:7,010,421...7,025,912

G

intercellular adhesion molecule 1

protein:increased expression:serum

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interferon gamma

severity

DNA:polymorphism:cds:+874A>T(human)

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 6

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-572C>G(human)

PMID:16372246 PMID:21235536

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interleukin 6 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090

G

mannose binding lectin 1

susceptibility

DNA:polymorphism:exon:

NCBI chr 4:29,419,886...29,424,377

G

proteasome 20S subunit beta 9

NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069

G

protein tyrosine phosphatase non-receptor type 22

DNA: snp: cds: rs2476601

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

thyroglobulin

no_association

CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:multiple

PMID:3052944 PMID:14636875 PMID:18656705 PMID:21559421 PMID:30373627

RGD:8548606 RGD:8548607 RGD:8548630 RGD:8548647

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

G

thyroid stimulating hormone receptor

DNA:SNP:intron:rs3783938 (human)

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

Hyperfunctioning Thyroid Adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning

PMID:7800007 PMID:8413627 PMID:9253356 PMID:9360556 PMID:9398746

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

hyperthyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

annexin A1

NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011

G

annexin A2

protein:decreased expression:thyroid gland:

NCBI chr30:25,176,845...25,210,244
Ensembl chr30:25,115,842...25,218,281

G

annexin A5

protein:decreased expression:thyroid gland:

NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378

G

apolipoprotein A1

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

apolipoprotein A2

NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887

G

apolipoprotein C3

NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992

G

aquaporin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720

G

3-hydroxybutyrate dehydrogenase 1

protein:decreased activity:liver, mitochondrion (rat)

NCBI chr33:30,407,021...30,422,735
Ensembl chr33:30,406,338...30,436,366

G

calcium binding protein 39

mRNA,protein:increased expression:muscle:

NCBI chr25:42,752,798...42,801,257
Ensembl chr25:42,703,332...42,799,279

G

CART prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 2:54,865,043...54,867,410
Ensembl chr 2:54,865,298...54,867,158

G

catalase

CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:liver:

PMID:19914224 PMID:23391542

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

CD40 molecule

treatment

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

cyclin dependent kinase inhibitor 1B

ClinVar Annotator: match by term: Primary hyperthyroidism

PMID:3328816 PMID:21289244 PMID:25741868 PMID:26762354 PMID:26989398 More...

NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906

G

ceruloplasmin

protein:increased expression:serum

NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369

G

citrate synthase

NCBI chr10:584,000...611,351
Ensembl chr10:584,904...611,436

G

cathepsin L family member 3

mRNA:increased expression:extensor digitorum longus (rat)

NCBI chr 1:72,215,774...72,219,093

G

major histocompatibility complex, class II, DQ beta 1

susceptibility

DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human)

NCBI chr12:2,305,307...2,307,711

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

glutathione-disulfide reductase

treatment

CTD Direct Evidence: marker/mechanism

PMID:19914224 PMID:25242845

NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752

G

heme oxygenase 1

treatment

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

insulin like growth factor 1 receptor

protein:increased expression:myocardium

NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387

G

interleukin 10

associated with Graves Disease

PMID:21474590 PMID:24534949

RGD:11049472 RGD:7364857

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

minichromosome maintenance complex component 7

NCBI chr 6:9,492,654...9,499,846
Ensembl chr 6:9,492,573...9,499,855

G

methylenetetrahydrofolate reductase

protein:increased activity:liver (rat)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

nuclear receptor subfamily 1 group D member 1

NCBI chr 9:22,461,556...22,469,243
Ensembl chr 9:22,461,705...22,469,053

G

proprotein convertase subtilisin/kexin type 1

mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat)
protein:decreased expression:paraventricular nucleus, median eminence (rat)

PMID:15291740 PMID:16497799

RGD:1601276 RGD:2308889

NCBI chr 3:13,233,342...13,276,921
Ensembl chr 3:13,233,594...13,274,094

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

PPARG coactivator 1 alpha

protein:increased expression:soleus muscle (rat)

NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269

G

parathyroid hormone

ClinVar Annotator: match by term: Primary hyperthyroidism

PMID:1425431 PMID:18784115 PMID:25741868

NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967

G

serpin family A member 7

protein:decreased expression:serum (rat)

NCBI chr X:79,571,169...79,589,199
Ensembl chr X:79,571,169...79,576,759

G

serpin family E member 1

protein:increased expression:plasma (human)

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

solute carrier family 34 member 1

protein:increased expression:renal cortex, brush border membrane (rat)

NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657

G

solute carrier family 9 member A1

protein:increased expression:heart, microsome

NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364

G

superoxide dismutase 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:19914224 PMID:22476324

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

serine/threonine kinase 11

mRNA,protein:increased expression:muscle:

NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

PMID:7800007 PMID:8413627 PMID:8964822

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

G

uncoupling protein 3

protein:increased expression:skeletal muscle, mitochondrion

NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639

G

vimentin

protein:increased expression, hyperphosphorylation:testis

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

hyperthyroxinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

susceptibility

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

iodothyronine deiodinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,081,894...55,098,560
Ensembl chr 5:55,082,604...55,098,529

hypothyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 2

treatment

NCBI chr27:14,015,093...14,084,362
Ensembl chr27:14,015,091...14,163,312

G

activity dependent neuroprotector homeobox

ClinVar Annotator: match by term: Hypothyroidism

PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More...

NCBI chr24:37,211,776...37,245,938
Ensembl chr24:37,213,942...37,243,702

G

adrenoceptor beta 2

mRNA,protein:decreased expression:brown adipose tissue, heart:

NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298

G

aminolevulinate dehydratase

protein:decreased activity:blood (rat)

NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321

G

annexin A1

NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011

G

annexin A2

protein:increased expression:thyroid gland:

NCBI chr30:25,176,845...25,210,244
Ensembl chr30:25,115,842...25,218,281

G

annexin A5

protein:increased expression:thyroid gland:

NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378

G

apolipoprotein A5

protein:decreased expression:liver

NCBI chr 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768

G

apolipoprotein C3

NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992

G

apolipoprotein E

protein:increased expression:plasma, high-density lipoprotein particle (rat)

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

aquaporin 3

NCBI chr11:50,517,509...50,524,565

G

arylsulfatase A

NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

mRNA:decreased expression:heart left ventricle

NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388

G

ATP synthase peripheral stalk subunit OSCP

treatment

protein:decreased expression:liver, mitochondrion (rat)

PMID:9733093 PMID:19878644

RGD:13830874 RGD:13838730

NCBI chr31:28,472,106...28,481,759

G

BCL2 associated agonist of cell death

NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405

G

brain derived neurotrophic factor

NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480

G

catalase

treatment

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

caveolin 1

protein:increased expression:cerebellum

NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935

G

cyclin dependent kinase 5 regulatory subunit 1

NCBI chr 9:40,481,111...40,502,689
Ensembl chr 9:40,501,646...40,502,569

G

chromodomain helicase DNA binding protein 7

ClinVar Annotator: match by term: Hypothyroidism

NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627

G

collagen type I alpha 2 chain

mRNA:increased expression:heart ventricle

NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527

G

collagen type II alpha 1 chain

treatment

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

G

citrate synthase

PMID:15817832 PMID:29748131

RGD:243048477 RGD:243048482

NCBI chr10:584,000...611,351
Ensembl chr10:584,904...611,436

G

cytochrome P450 family 19 subfamily A member 1

mRNA:increased expression:ovary (rat)

NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353

G

doublecortin

protein:altered expression:cerebellum

NCBI chr X:84,408,762...84,541,157
Ensembl chr X:84,408,895...84,517,827

G

major histocompatibility complex, class II, DQ beta 1

susceptibility

DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human)

NCBI chr12:2,305,307...2,307,711

G

dihydropyrimidinase like 2

mRNA, protein:increased expression:thyroid gland

NCBI chr25:30,900,347...31,038,256
Ensembl chr25:30,903,253...31,038,144

G

ELAV like RNA binding protein 4

mRNA,protein:increased expression:brain:

NCBI chr15:10,885,161...10,977,383
Ensembl chr15:10,887,347...11,027,621

G

ectonucleoside triphosphate diphosphohydrolase 1

mRNA,protein:increased expression,increased activity:hippocampus:

NCBI chr28:9,181,851...9,311,835
Ensembl chr28:9,211,050...9,323,939

G

coagulation factor VII

protein:increased expression:plasma (rat)

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

forkhead box P3

treatment

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

gastric inhibitory polypeptide

protein:increased expression:plasma (rat)

NCBI chr 9:25,167,938...25,174,402
Ensembl chr 9:25,167,926...25,174,575

G

G protein subunit beta 1

ClinVar Annotator: match by term: Hypothyroidism

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More...

NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295

G

glutathione peroxidase 1

treatment

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

G protein-coupled receptor kinase 3

mRNA:increased expression:heart (rat)

NCBI chr26:19,385,059...19,512,528
Ensembl chr26:19,385,058...19,516,077

G

gelsolin

Protein:increased expression:cochlea

NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129

G

MHC class II DLA DRB1 beta chain

DNA:polymorphism (human)

NCBI chr12:2,151,409...2,164,564

G

interferon gamma

treatment

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

insulin like growth factor 1

protein:decreased expression:serum (rat)

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

insulin like growth factor binding protein 2

NCBI chr37:23,553,227...23,569,321
Ensembl chr37:23,559,501...23,569,312

G

interleukin 10

treatment

PMID:24534949 PMID:29896255

RGD:11049472 RGD:38549578

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 4

treatment

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

ISL LIM homeobox 1

susceptibility

NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183

G

L1 cell adhesion molecule

mRNA,protein:increased expression: cerebral cortex:

NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365

G

lipase C, hepatic type

protein:reduced expression:plasma (rat)
mRNA, protein:reduced expression:hepatocyte, extracellular space (rat)

PMID:9106496 PMID:12841343

RGD:2308783 RGD:2308790

NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037

G

complement receptor type 2

ClinVar Annotator: match by term: Hypothyroidism

NCBI chr 7:6,456,238...6,480,672

G

microtubule associated protein 1A

protein:increased expression:cerebellum

NCBI chr30:10,361,871...10,382,780
Ensembl chr30:10,361,909...10,381,376

G

microtubule associated protein 1B

protein:increased expression:cerebellum

NCBI chr 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975

G

myelin basic protein

NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860

G

myelin associated oligodendrocyte basic protein

NCBI chr23:9,121,277...9,176,128
Ensembl chr23:9,121,319...9,161,972

G

myostatin

NCBI chr37:729,172...734,255
Ensembl chr37:729,172...734,362

G

transcription initiation factor TFIID subunit 4

mRNA:increased expression:brain

NCBI chr 2:59,624,845...59,630,386

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

mRNA:decreased expression:brain, heart

NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842

G

methylenetetrahydrofolate reductase

protein:decreased activity:liver (rat)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

myosin heavy chain 6

G

myosin heavy chain 7

PMID:1703406 PMID:2950137

RGD:12792943 RGD:12798563

NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725

G

neural cell adhesion molecule 1

protein:increased expression:hippocampus

NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995

G

nuclear receptor coactivator 1

mRNA:altered expression:brain

NCBI chr17:18,880,676...19,124,300
Ensembl chr17:18,880,383...19,122,258

G

nuclear receptor corepressor 1

mRNA:altered expression:brain

NCBI chr 5:39,687,530...39,837,003
Ensembl chr 5:39,687,543...39,836,464

G

neurofilament heavy chain

treatment

NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125

G

neurofilament light chain

treatment

NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224

G

neurofilament medium chain

treatment

NCBI chr25:32,493,517...32,498,615
Ensembl chr25:32,493,675...32,498,570

G

nerve growth factor

mRNA:decreased expression:hypothalamus

NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607

G

nitric oxide synthase 2

mRNA, protein:altered expression:cerebral cortex

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

nitric oxide synthase 3

protein:decreased activity:ovary (rat)

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

nuclear receptor subfamily 1 group D member 1

NCBI chr 9:22,461,556...22,469,243
Ensembl chr 9:22,461,705...22,469,053

G

neurogranin

treatment

protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn

PMID:16004982 PMID:20041985

RGD:9835423 RGD:9835430

NCBI chr 5:9,673,107...9,679,819
Ensembl chr 5:9,673,809...9,679,799

G

otoferlin

mRNA, protein:decreased expression:cochlea (rat)

NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750

G

peptidylglycine alpha-amidating monooxygenase

mRNA:increased stability:pituitary gland

NCBI chr 3:8,141,508...8,312,081
Ensembl chr 3:8,142,061...8,290,477

G

proliferating cell nuclear antigen

NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992

G

proprotein convertase subtilisin/kexin type 1

mRNA:increased expression:hypothalamus, hippocampus, cortex (rat)
protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat)

PMID:15291740 PMID:16926379

RGD:1600414 RGD:2308889

NCBI chr 3:13,233,342...13,276,921
Ensembl chr 3:13,233,594...13,274,094

G

phosphorylase kinase regulatory subunit alpha 1

NCBI chr X:56,579,538...56,758,293
Ensembl chr X:56,581,435...56,757,905

G

paired like homeodomain 2

mRNA, protein:decreased expression:ovary, granulosa cell

NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

mRNA:decreased expression:multiple organs

NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

mRNA:decreased expression:multiple organs

NCBI chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

mRNA:decreased expression:multiple organs

NCBI chr 6:8,664,135...8,671,637
Ensembl chr 6:8,664,358...8,671,620

G

patatin like phospholipase domain containing 3

treatment

NCBI chr10:21,708,439...21,722,282
Ensembl chr10:21,712,378...21,722,135

G

proteasome 20S subunit beta 9

NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069

G

protein tyrosine phosphatase non-receptor type 22

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

G

reelin

protein:increased expression:layers of neocortex, hypothalamus (rat)

NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875

G

ret proto-oncogene

ClinVar Annotator: match by term: Hypothyroidism

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

serpin family A member 7

protein:increased expression:liver

NCBI chr X:79,571,169...79,589,199
Ensembl chr X:79,571,169...79,576,759

G

sonic hedgehog signaling molecule

mRNA:decreased expression:cerebellum

NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903

G

solute carrier family 16 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:57,845,865...57,859,827
Ensembl chr X:57,845,488...57,857,518

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Hypothyroidism

NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212

G

solute carrier family 26 member 5

protein:altered expression:cochlear outer hair cell (rat)
Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse)

PMID:17520268 PMID:19176829

RGD:9585686 RGD:9585687

NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940

G

solute carrier family 2 member 1

protein:decreased expression:cerebral cortex

NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140

G

solute carrier family 30 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540

G

solute carrier family 34 member 1

protein:decreased expression:renal cortex, brush border membrane (rat)

NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657

G

solute carrier family 9 member A1

protein:decreased expression:heart, microsome

NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364

G

superoxide dismutase 1

treatment

mRNA:decreased expression:renal cortex (rat)

PMID:21607622 PMID:22076484

RGD:8655983 RGD:8655989

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

superoxide dismutase 2

treatment

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

steroid 5 alpha-reductase 1

mRNA:decreased expression:epididymus (rat)

NCBI chr34:7,118,814...7,144,828
Ensembl chr34:7,118,814...7,144,828

G

steroidogenic acute regulatory protein

mRNA:increased expression:corpus luteum (rat)

NCBI chr16:27,326,355...27,331,025
Ensembl chr16:27,326,355...27,331,025

G

thyroglobulin

treatment

ClinVar Annotator: match by term: Hypothyroidism

PMID:16365524 PMID:25741868

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

G

thrombomodulin

NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649

G

translocase of outer mitochondrial membrane 70

mRNA:increased expression:striatum

NCBI chr33:6,976,322...7,009,618
Ensembl chr33:6,976,934...7,009,594

G

thyroid peroxidase

Hypothyroidism, congenital

PMID:1748985 PMID:2061865 PMID:2307615 PMID:3223852 PMID:7695146 More...

NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043

G

thyrotropin releasing hormone

protein:increased expression:hypothalamus, neuron

NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866

G

thyrotropin releasing hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr13:9,642,565...9,681,778
Ensembl chr13:9,642,387...9,674,831

G

thyroid stimulating hormone subunit beta

ClinVar Annotator: match by term: TSH deficiency

PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More...

NCBI chr17:52,659,137...52,685,388
Ensembl chr17:52,681,357...52,685,390

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Hypothyroidism

PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 More...

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

G

uncoupling protein 2

mRNA, protein:decreased expression:kidney

NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128

G

uncoupling protein 3

protein:decreased expression:skeletal muscle, mitochondrion

NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639

G

Wnt family member 3A

mRNA:decreased expression:hippocampus

NCBI chr14:864,393...899,698
Ensembl chr14:863,424...896,412

IGSF1 deficiency syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminopeptidase O (putative)

ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement

NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395

G

FA complementation group B

ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr X:10,690,826...11,140,838
Ensembl chr X:11,095,200...11,141,029

G

FA complementation group C

ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement

NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506

G

immunoglobulin superfamily member 1

ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement

PMID:23143598 PMID:23966245 PMID:25741868 PMID:27310681 PMID:28492532 More...

NCBI chr X:102,359,980...102,376,838
Ensembl chr X:102,359,986...102,377,018

Inherited Thyroxine-Binding Globulin Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family A member 7

ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P

PMID:1901689 PMID:2155256 PMID:2495303 PMID:18407078 PMID:25741868 More...

NCBI chr X:79,571,169...79,589,199
Ensembl chr X:79,571,169...79,576,759

Isolated Thyrotropin Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid stimulating hormone subunit beta

ClinVar Annotator: match by term: Thyrotropin deficiency, isolated

PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More...

NCBI chr17:52,659,137...52,685,388
Ensembl chr17:52,681,357...52,685,390

Johanson-Blizzard syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness

PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More...

NCBI chr30:9,869,769...10,006,994
Ensembl chr30:9,870,021...10,006,947

Li-Campeau Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Li-Campeau syndrome

NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414

G

ubiquitin protein ligase E3 component n-recognin 7

ClinVar Annotator: match by term: Li-Campeau syndrome

PMID:25741868 PMID:33340455

NCBI chr 8:62,410,589...62,426,436
Ensembl chr 8:62,410,640...62,435,677

Lingual Thyroids

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atlastin GTPase 1

ClinVar Annotator: match by term: Lingual thyroid

NCBI chr 8:26,959,697...27,034,190
Ensembl chr 8:26,959,749...27,120,114

Multinodular Goiter 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Euthyroid goiter | ClinVar Annotator: match by term: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

PMID:6261577 PMID:9295070 PMID:9345104 PMID:16199547 PMID:18570301 More...

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

neonatal diabetes mellitus with congenital hypothyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GLIS family zinc finger 3

ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism

PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 More...

NCBI chr 1:92,278,521...92,824,303
Ensembl chr 1:92,282,164...92,734,468

nodular goiter

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

nonautoimmune hyperthyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 128

ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune

PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More...

NCBI chr 8:52,915,455...53,311,963
Ensembl chr 8:52,916,182...53,311,733

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT

PMID:1955520 PMID:7124278 PMID:7528344 PMID:7800007 PMID:7920658 More...

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

Ohdo syndrome, SBBYS variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome

PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More...

NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome

NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622

G

ubiquitin protein ligase E3B

ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome

NCBI chr26:17,544,082...17,597,318
Ensembl chr26:17,540,918...17,597,722

Pendred syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 9

ClinVar Annotator: match by term: Pendred syndrome

PMID:30311386 PMID:35802133 PMID:36633841

NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203

G

diaphanous related formin 1

ClinVar Annotator: match by term: Pendred syndrome

NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320

G

forkhead box I1

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition

PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386

NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836

G

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome

PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More...

NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813

G

myosin VIIA

ClinVar Annotator: match by term: Pendred syndrome

PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

otoferlin

ClinVar Annotator: match by term: Pendred syndrome

NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition

PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More...

NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212

selective pituitary thyroid hormone resistance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid hormone receptor beta

ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone

PMID:1159077 PMID:1358935 PMID:1400873 PMID:7593433 PMID:7838159 More...

NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283

thyroid adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multiple inositol-polyphosphate phosphatase 1

ClinVar Annotator: match by term: Thyroid adenoma

NCBI chr26:37,585,096...37,629,221
Ensembl chr26:37,586,727...37,626,618

thyroid cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Thyroid cancer

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Thyroid cancer

PMID:25186627 PMID:25741868 PMID:26315354 PMID:26787654 PMID:26976419 More...

NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Thyroid cancer

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

cadherin 16

mRNA, protein:decreased expression:Thyroid

NCBI chr 5:82,398,443...82,417,807
Ensembl chr 5:82,398,541...82,408,061

G

mitogen-activated protein kinase 1

disease_progression

mRNA, protein:increased expression

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

microRNA mir-21

ameliorates

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

MYC proto-oncogene, bHLH transcription factor

mRNA:increased expression:thyroid (mouse)

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

Thyroid Cancer, Nonmedullary, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box E1

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4

PMID:25381600 PMID:25741868 PMID:28444304 PMID:32428920

NCBI chr11:55,143,389...55,145,954

Thyroid Cancer, Nonmedullary, 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronan binding protein 2

susceptibility

ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5

PMID:12138371 PMID:12578864 PMID:15486068 PMID:25741868 PMID:26222560 More...

NCBI chr28:24,489,665...24,522,336
Ensembl chr28:24,489,773...24,522,263

Thyroid Carcinoma, Nonmedullary 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

NK2 homeobox 1

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1

PMID:19176457 PMID:25741868 PMID:28492532

G

pericentriolar material 1

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1

PMID:10980597 PMID:25741868

NCBI chr16:41,212,733...41,291,654
Ensembl chr16:41,214,417...41,291,376

G

RAD50 interactor 1

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1

PMID:16199547 PMID:25741868 PMID:28492532 PMID:31204009 PMID:33471991

NCBI chr18:14,843,820...14,877,334
Ensembl chr18:14,843,829...14,877,607

thyroid dyshormonogenesis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 5 member 5

ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1

PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More...

NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209

thyroid dyshormonogenesis 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid peroxidase

ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A

PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More...

NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043

thyroid dyshormonogenesis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Src like adaptor

ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

PMID:25741868 PMID:28492532

NCBI chr13:29,503,304...29,590,679
Ensembl chr13:29,504,867...29,569,773

G

thyroglobulin

ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More...

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

thyroid dyshormonogenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

iodotyrosine deiodinase

ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4

PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More...

NCBI chr 1:40,890,402...40,908,437
Ensembl chr 1:40,890,435...40,908,439

thyroid dyshormonogenesis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dual oxidase maturation factor 2

ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5

PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 More...

NCBI chr30:11,541,849...11,546,019
Ensembl chr30:11,542,078...11,545,811

thyroid dyshormonogenesis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dual oxidase 2

ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6

PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 More...

NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716

thyroid gland anaplastic carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromobox 7

mRNA,protein:decreased expression:thyroid gland:
mRNA:decreased expression:thyroid gland:
mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:

PMID:18701502 PMID:19706751

RGD:9586729 RGD:9587357

NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501

G

microRNA mir-21

RNA:increased expression:thyroid gland:

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

tumor protein p53

ClinVar Annotator: match by term: Thyroid gland undifferentiated (anaplastic) carcinoma

PMID:1565144 PMID:1631137 PMID:7732013 PMID:8423216 PMID:9242456 More...

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

thyroid gland carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V0 subunit c

disease_progression

DNA:hypermethylation:promoter

NCBI chr 6:38,519,869...38,525,217
Ensembl chr 6:38,520,765...38,525,062

G

baculoviral IAP repeat containing 3

disease_progression

mRNA:increased expression:thyroid gland (human)

NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:thyroid gland (human)

NCBI chr 9:2,930,308...2,959,307

G

baculoviral IAP repeat containing 7

disease_progression

mRNA:increased expression:thyroid gland (human)

NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495

G

CD34 molecule

treatment

NCBI chr 7:6,734,363...6,747,991
Ensembl chr 7:6,734,363...6,748,581

G

CD93 molecule

treatment

NCBI chr24:559,570...565,909
Ensembl chr24:560,025...563,211

G

cadherin 5

treatment

NCBI chr 5:82,830,505...82,863,931
Ensembl chr 5:82,830,939...82,863,882

G

endomucin

treatment

NCBI chr32:22,225,159...22,320,240
Ensembl chr32:22,226,042...22,320,063

G

fms related receptor tyrosine kinase 1

treatment

NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621

G

fms related receptor tyrosine kinase 4

treatment

NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165

G

kinase insert domain receptor

treatment

NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042

G

microRNA mir-181d

RNA:increased expression:thyroid gland

NCBI chr20:48,593,158...48,593,221

G

microRNA mir-221

RNA:increased expression:thyroid gland

NCBI chr X:39,523,890...39,523,951
Ensembl chr X:39,523,885...39,523,954

G

microRNA mir-222

RNA:increased expression:thyroid gland

NCBI chr X:39,524,519...39,524,608
Ensembl chr X:39,524,519...39,524,608

G

protein tyrosine phosphatase receptor type B

treatment

NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435

G

ret proto-oncogene

ClinVar Annotator: match by term: Thyroid gland carcinoma

PMID:2904651 PMID:3078962 PMID:7608256 PMID:7824936 PMID:7849700 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

roundabout guidance receptor 4

treatment

NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702

thyroid gland follicular carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

protein kinase cAMP-dependent type I regulatory subunit alpha

OMIM:188470

NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

G

phosphatase and tensin homolog

OMIM:188470

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

thyroid hormone receptor beta

CTD Direct Evidence: marker/mechanism
OMIM:188470

NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283

thyroid gland Hurthle cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromobox 7

protein:decreased expression:thyroid Human)

NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501

G

NADH:ubiquinone oxidoreductase subunit A13

ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid

PMID:15841082 PMID:25741868

NCBI chr20:43,721,568...43,730,607
Ensembl chr20:43,721,640...43,730,295

G

proteasome 20S subunit beta 9

NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069

thyroid gland medullary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Medullary thyroid gland carcinoma

PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

ret proto-oncogene

ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma

PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

thyroid gland papillary carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

susceptibility

associated with Radiation-Induced Neoplasms;DNA:SNPs,haplotypes:exon 39,intron 22,intron 48: p.D1853N, IVS22-77 T>C, IVS48 + 238 C>G (rs1801516, rs664677, rs609429)
ClinVar Annotator: match by term: Papillary thyroid carcinoma

PMID:19286843 PMID:19404735 PMID:20305132 PMID:23555315 PMID:25186627 More...

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

brain enriched guanylate kinase associated

CTD Direct Evidence: marker/mechanism

NCBI chr 8:68,794,403...68,838,471
Ensembl chr 8:68,795,049...68,838,789

G

B-Raf proto-oncogene, serine/threonine kinase

onset

DNA:mutation:cds:p.V600E(human)
ClinVar Annotator: match by term: Papillary thyroid carcinoma

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More...

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

bromodomain containing 4

mRNA, protein:increased expression:thyroid

NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608

G

chromosome 5 C11orf65 homolog

ClinVar Annotator: match by term: Papillary thyroid carcinoma

PMID:19404735 PMID:20305132 PMID:23555315 PMID:25186627 PMID:25741868 More...

NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291

G

calcium/calmodulin dependent protein kinase II inhibitor 1

mRNA:increased expression:thyroid gland

G

catalase

protein:increased activity:plasma:

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

chromobox 7

mRNA:decreased expression:thyroid gland (mouse)
mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:

NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501

G

coiled-coil domain containing 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:11,966,366...12,077,797
Ensembl chr 4:11,970,097...12,077,484

G

cyclin D1

mRNA:increased expression:thyroid

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cadherin 1

DNA:hypermethylation:promoter

NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878

G

catenin beta 1

disease_progression

mRNA:increased expression:thyroid

PMID:28677753 PMID:29498921

RGD:13792558 RGD:13792605

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

iodothyronine deiodinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,696,779...69,698,880

G

dynein cytoplasmic 1 heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825

G

lysine methyltransferase 2D

associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation

NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490

G

lymphoid enhancer binding factor 1

mRNA:increased expression:thyroid

NCBI chr32:28,516,002...28,633,759
Ensembl chr32:28,517,108...28,634,019

G

DNA ligase 4

ClinVar Annotator: match by term: Papillary thyroid carcinoma

NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357

G

microRNA mir-127

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,104,938...69,104,997
Ensembl chr 8:69,104,906...69,105,016

G

microRNA mir-134

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,283,496...69,283,568

G

microRNA mir-136

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,106,615...69,106,670
Ensembl chr 8:69,106,598...69,106,687

G

microRNA mir-323

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,257,494...69,257,549
Ensembl chr 8:69,257,479...69,257,564

G

microRNA mir-369

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,294,073...69,294,128

G

microRNA mir-370

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,132,786...69,132,864
Ensembl chr 8:69,132,786...69,132,864

G

microRNA mir-377

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,290,937...69,291,005

G

microRNA mir-381

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,274,983...69,275,057

G

microRNA mir-409

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,293,782...69,293,835

G

microRNA mir-410

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,294,377...69,294,432

G

microRNA mir-432

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,106,415...69,106,501
Ensembl chr 8:69,106,415...69,106,501

G

microRNA mir-433

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,103,838...69,103,911
Ensembl chr 8:69,103,820...69,103,928

G

microRNA mir-487a

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,281,078...69,281,157
Ensembl chr 8:69,281,078...69,281,157

G

microRNA mir-487b

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,275,496...69,275,553
Ensembl chr 8:69,275,473...69,275,576

G

microRNA mir-494

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465

G

microRNA mir-496

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,289,410...69,289,507
Ensembl chr 8:69,289,410...69,289,507

G

microRNA mir-539

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,276,311...69,276,386

G

microRNA mir-543

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,263,406...69,263,463

G

MYC proto-oncogene, bHLH transcription factor

mRNA:increased expression:thyroid

NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309

G

NK2 homeobox 1

CTD Direct Evidence: marker/mechanism

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Papillary thyroid carcinoma

PMID:25741868 PMID:28492532

NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745

G

plasminogen activator, urokinase

severity

mRNA:increased expression:thyroid gland (human)

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

protein phosphatase 2 regulatory subunit B'gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,846,311...69,969,409
Ensembl chr 8:69,846,446...69,967,578

G

RAP1 GTPase activating protein

protein:decreased expression:thyroid gland (human)

NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

G

retinoid X receptor gamma

mRNA:increased expression:thyroid

NCBI chr38:17,867,123...17,912,328
Ensembl chr38:17,867,182...17,920,085

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628

G

snail family transcriptional repressor 2

CTD Direct Evidence: marker/mechanism

NCBI chr29:1,154,132...1,156,653
Ensembl chr29:1,154,036...1,156,653

G

tumor protein p53

susceptibility

associated with Radiation-Induced Neoplasms;DNA:SNPs, haplotypes:exon 4: p.R72P (rs1042522) (human)

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tropomyosin 3

mRNA:increased expression:thyroid

NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296

G

tryptophanyl-tRNA synthetase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:68,610,105...68,644,616
Ensembl chr 8:68,610,090...68,643,467

G

WD repeat domain 20

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,150,090...70,208,683
Ensembl chr 8:70,146,967...70,199,975

G

WD repeat domain 3

susceptibility

DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human)

NCBI chr17:55,225,097...55,254,404
Ensembl chr17:55,225,226...55,254,254

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP:exon 10: p.R399Q (rs25487) (Human)

NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816

G

zinc finger E-box binding homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:15,300,401...15,481,535
Ensembl chr 2:15,299,723...15,481,495

G

zinc finger E-box binding homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122

thyroid hormone resistance syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor coactivator 1

OMIM:188570 | OMIM:274300

NCBI chr17:18,880,676...19,124,300
Ensembl chr17:18,880,383...19,122,258

G

thyroid hormone receptor alpha

OMIM:188570 | OMIM:274300

NCBI chr 9:22,469,466...22,493,445
Ensembl chr 9:22,468,594...22,493,445

G

thyroid hormone receptor beta

susceptibility

DNA:missense mutation:exon:p.I276L (human)
ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: THRB-related condition | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome

PMID:1324420 PMID:1358935 PMID:1400869 PMID:1548332 PMID:1661299 More...

NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283

G

thyrotropin releasing hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr13:9,642,565...9,681,778
Ensembl chr13:9,642,387...9,674,831

thyroid malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box protein 31

ClinVar Annotator: match by term: Ectopic thyroid

PMID:32989326 PMID:33675180

NCBI chr 5:65,703,591...65,734,956
Ensembl chr 5:65,703,575...65,731,056

Thyroid Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 12

CTD Direct Evidence: marker/mechanism

NCBI chr37:22,136,732...22,306,917
Ensembl chr37:22,138,245...22,405,736

G

ATP binding cassette subfamily A member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:15,420,305...15,497,175

G

ATP binding cassette subfamily B member 6

CTD Direct Evidence: marker/mechanism

NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841

G

ATP binding cassette subfamily B member 8

CTD Direct Evidence: marker/mechanism

NCBI chr16:15,082,866...15,098,928
Ensembl chr16:15,082,917...15,096,593

G

ATP binding cassette subfamily C member 10

CTD Direct Evidence: marker/mechanism

NCBI chr12:11,898,493...11,919,622
Ensembl chr12:11,898,352...11,919,609

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

AKT serine/threonine kinase 2

NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131

G

B-Raf proto-oncogene, serine/threonine kinase

treatment

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

PMID:12068308 PMID:12198537 PMID:12960123 PMID:14679157 PMID:15035987 More...

NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:39,008,187...39,009,932

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

cyclin dependent kinase 1

mRNA, protein:increased expression:thyroid gland (rat)

NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197

G

cyclin dependent kinase inhibitor 1A

protein:decreased expression:thyroid gland

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

chitinase 3 like 1

mRNA:increased expression:tumor (human)

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

ceruloplasmin

mRNA:increased expression:thyroid gland

NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

C-X-C motif chemokine ligand 10

CTD Direct Evidence: marker/mechanism

NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

DEAH-box helicase 32 (putative)

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

NCBI chr28:34,999,030...35,035,964
Ensembl chr28:34,999,204...35,035,964

G

ectonucleotide pyrophosphatase/phosphodiesterase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:18,586,886...18,697,339
Ensembl chr13:18,587,129...18,697,324

G

erythropoietin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

erythropoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856

G

golgin A5

reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas

NCBI chr 8:1,874,716...1,907,251
Ensembl chr 8:1,874,833...1,907,403

G

hyaluronan binding protein 2

NCBI chr28:24,489,665...24,522,336
Ensembl chr28:24,489,773...24,522,263

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

15-hydroxyprostaglandin dehydrogenase

CTD Direct Evidence: therapeutic

NCBI chr25:24,964,908...24,993,276
Ensembl chr25:24,964,908...24,993,297

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

PMID:1904555 PMID:2999610 PMID:3018526 PMID:3510078 PMID:3537694 More...

NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717

G

interleukin 12B

NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

KLF transcription factor 5

CTD Direct Evidence: therapeutic

NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:6320174 More...

NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369

G

laminin subunit alpha 2

NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

PMID:1904555 PMID:2999610 PMID:3018526 PMID:3510078 PMID:3537694 More...

NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220

G

mitogen-activated protein kinase kinase 3

NCBI chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

multiple inositol-polyphosphate phosphatase 1

DNA:loss of heterozygosity

NCBI chr26:37,585,096...37,629,221
Ensembl chr26:37,586,727...37,626,618

G

microRNA mir-497

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,045,759...32,045,825
Ensembl chr 5:32,045,759...32,045,825

G

mutS homolog 6

CTD Direct Evidence: marker/mechanism

NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028

G

nuclear receptor coactivator 4

CTD Direct Evidence: marker/mechanism

NCBI chr28:1,801,655...1,867,705
Ensembl chr28:1,802,678...1,825,020

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

PMID:2674680 PMID:8120410 PMID:12460918 PMID:16291983 PMID:18390968 More...

NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788

G

p21 (RAC1) activated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:21,341,530...21,409,535
Ensembl chr21:21,265,484...21,408,416

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

PMID:15930273 PMID:17376864 PMID:22120714 PMID:22949682 PMID:23246288 More...

NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: therapeutic

NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981

G

PR/SET domain 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:83,381,021...83,429,640
Ensembl chr 2:83,382,552...83,465,687

G

phosphatase and tensin homolog

severity

DNA:loss of heterozygosity:cds: (human)
mRNA:decreased expression:thyroid gland (human)

PMID:10793080 PMID:12203792

RGD:12832747 RGD:12832749

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

prostaglandin E synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,343,424...55,349,349
Ensembl chr 9:55,343,424...55,348,959

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

RAP1 GTPase activating protein

protein:decreased expression:thyroid gland (human)
CTD Direct Evidence: marker/mechanism

PMID:17646383 PMID:22614916

NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205

G

Rap guanine nucleotide exchange factor 3

protein:altered expression:thyroid gland (human)

NCBI chr27:6,993,452...7,030,372
Ensembl chr27:6,993,452...7,017,316

G

ret proto-oncogene

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More...

NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210

G

retinoid X receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119

G

solute carrier family 5 member 5

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16954431 PMID:17045167

NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209

G

superoxide dismutase 2

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

secreted phosphoprotein 1

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

transcription factor 7 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:39,699,958...39,859,167
Ensembl chr17:39,699,958...39,858,182

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:plasma

PMID:12915632 PMID:14654933 PMID:25383969

RGD:2291969 RGD:2291994

NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

tropomyosin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296

G

translocated promoter region, nuclear basket protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,376,951...19,442,368
Ensembl chr 7:19,376,975...19,442,303

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

PMID:8413627 PMID:9062474

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

G

zinc finger RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:75,038,248...75,124,154
Ensembl chr 4:74,982,467...75,123,053

Thyroid Nodule

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroglobulin

treatment

NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040

thyroiditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 associated X, apoptosis regulator

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

Thyrotoxic Periodic Paralysis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 S

ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1

PMID:7847370 PMID:7987325 PMID:9066893 PMID:9199552 PMID:9536098 More...

NCBI chr 7:2,108,716...2,172,246
Ensembl chr 7:2,108,455...2,303,220

G

MHC class I DLA-88

protein:increased expression:peripheral blood cell (human)

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

thyrotoxicosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

protein:increased expression:plasma

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

mitochondrially encoded cytochrome b

protein:decreased expression:mitochondrion, brain, kidney, liver

NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898

Thyrotropin-Releasing Hormone Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyrotropin releasing hormone

ClinVar Annotator: match by term: Hypothalamic hypothyroidism

NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866

Weaver syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

contactin associated protein 2

ClinVar Annotator: match by term: Weaver syndrome

NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416

G

cullin 1

ClinVar Annotator: match by term: Weaver syndrome

NCBI chr16:1,995,637...2,086,853
Ensembl chr16:1,995,960...2,052,864

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

ClinVar Annotator: match by term: Weaver syndrome

PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More...

NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Weaver syndrome

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999

G

SUZ12 polycomb repressive complex 2 subunit

ClinVar Annotator: match by term: Weaver syndrome

PMID:25741868 PMID:30019515

NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645

Term paths to the root

Path 1
Term	Annotations
disease	17774
disease of anatomical entity	15146
endocrine system disease	6016
thyroid gland disease	544
Abnormal Thyroid Hormone Metabolism 1	1
Abnormal Thyroid Hormone Metabolism 2	1
Abnormal Thyroid Hormone Metabolism 3	0
Akesson Syndrome	0
Inherited Thyroxine-Binding Globulin Deficiency	1
Thyrocerebral-Retinal Syndrome	0
Thyroid Neoplasms +	144
euthyroid sick syndrome	1
goiter +	76
hyperthyroidism +	101
hyperthyroxinemia +	7
hypothyroidism +	321
thyrocalcitonin secretion disease	0
thyroid crisis	0
thyroid malformation +	3
thyroiditis +	36

paths to the root