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 (524)

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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

consortin, connexin sorting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:222,184,419...222,291,611
Ensembl chr 1:227,563,246...227,759,310

G

iodothyronine deiodinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:53,167,840...53,184,961
Ensembl chr 1:54,762,744...54,779,679

G

iodothyronine deiodinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:60,756,781...60,775,255

G

dual oxidase 2

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

PMID:25741868 PMID:28492532

NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281

G

GULP PTB domain containing engulfment adaptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:75,588,843...75,896,253
Ensembl chr2B:193,695,139...193,815,861

G

inhibitor of DNA binding 2

CTD Direct Evidence: marker/mechanism

NCBI chr2A:8,681,592...8,684,014
Ensembl chr2A:8,847,776...8,850,720

G

inhibitor of DNA binding 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:22,748,714...22,750,582
Ensembl chr 1:23,734,263...23,736,175

G

integrin subunit beta 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:121,863,676...122,013,438
Ensembl chr 3:128,762,200...128,877,172

G

KLF transcription factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:54,387,404...54,417,095
Ensembl chr 9:69,142,283...69,170,664

G

T-box transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:112,240,050...112,254,299
Ensembl chr12:115,620,002...115,631,316

G

trans-golgi network protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr2A:85,370,686...85,381,607

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 9:60,408,272...60,456,945
Ensembl chr 9:88,454,531...88,498,095

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 1:53,167,840...53,184,961
Ensembl chr 1:54,762,744...54,779,679

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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

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 chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527

G

CD4 molecule

treatment

NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204

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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

Fc receptor like 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:133,038,100...133,062,467
Ensembl chr 1:136,830,553...136,855,027

G

gap junction protein alpha 1

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

NCBI chr 6:119,213,513...119,227,617

G

gap junction protein beta 1

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

NCBI chr X:60,490,579...60,492,606
Ensembl chr X:70,547,110...70,547,961

G

gap junction protein beta 2

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

NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954

G

interferon gamma

mRNA:increased expression:thyroid:

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 17A

protein:increased expression:thyroid gland

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 4

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

severity

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

NCBI chr 7:23,415,922...23,420,767

G

HLA class II histocompatibility antigen, DQ beta 1 chain

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

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

HLA class II histocompatibility antigen, DR alpha chain

NCBI chr 6:32,105,421...32,110,579
Ensembl chr 6:32,982,228...32,987,417

G

LDL receptor related protein 2

NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697

G

mannose binding lectin 2

susceptibility

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

PMID:19703233 PMID:22360648

RGD:14696815 RGD:8693703

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

proteasome 20S subunit beta 9

DNA:missense mutation: cds: Arg60His

NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402

G

protein tyrosine phosphatase non-receptor type 22

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

Src like adaptor

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

NCBI chr 8:129,690,546...129,757,660
Ensembl chr 8:132,666,411...132,732,669

G

thyroglobulin

susceptibility

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 chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

G

toll like receptor 3

protein:increased expression:thyroid gland (human)

NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728

G

tumor necrosis factor

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 chr 8:131,148,934...131,383,113
Ensembl chr 8:134,102,879...134,337,255

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 chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

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

NCBI chr 9:68,943,747...68,947,226

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 chr14:3,434,357...3,448,471
Ensembl chr14:21,535,753...21,549,856

G

apoptotic chromatin condensation inducer 1

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

NCBI chr14:3,878,426...3,915,802
Ensembl chr14:21,975,370...22,012,092

G

adenylate cyclase 4

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

NCBI chr14:5,094,899...5,111,603
Ensembl chr14:23,218,178...23,234,861

G

ajuba LIM protein

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

NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700

G

A-kinase anchoring protein 6

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

NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166

G

angiogenin

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

NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393

G

adaptor related protein complex 1 subunit gamma 2

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

NCBI chr14:4,378,017...4,386,319
Ensembl chr14:22,471,343...22,479,801

G

adaptor related protein complex 4 subunit sigma 1

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

NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239

G

ADP ribosylation factor 6

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

NCBI chr14:30,482,191...30,486,741
Ensembl chr14:48,789,329...48,789,856

G

Rho GTPase activating protein 5

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

NCBI chr14:12,844,042...12,934,411
Ensembl chr14:31,036,511...31,125,349

G

Rho guanine nucleotide exchange factor 40

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

NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466

G

bromodomain adjacent to zinc finger domain 1A

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

NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473

G

BRMS1 like transcriptional repressor

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

NCBI chr14:16,579,323...16,628,005
Ensembl chr14:34,759,935...34,807,803

G

chromosome 15 C14orf119 homolog

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

NCBI chr14:3,915,675...3,918,781

G

chromosome 15 C14orf28 homolog

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

NCBI chr14:25,514,741...25,524,710
Ensembl chr14:43,843,018...43,852,917

G

chromosome 15 C14orf93 homolog

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

NCBI chr14:3,807,076...3,830,892
Ensembl chr14:21,905,028...21,928,242

G

capping protein regulator and myosin 1 linker 3

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

NCBI chr14:4,830,041...4,847,897
Ensembl chr14:22,954,274...22,971,981

G

cerebellin 3 precursor

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

NCBI chr14:5,200,297...5,206,018

G

cadherin 24

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

NCBI chr14:3,866,958...3,877,393
Ensembl chr14:21,964,897...21,972,528

G

CCAAT enhancer binding protein epsilon

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

NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219

G

cofilin 2

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

NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473

G

chromodomain helicase DNA binding protein 8

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

NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361

G

charged multivesicular body protein 4A

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

NCBI chr14:4,985,642...4,989,985

G

C-type lectin domain containing 14A

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

NCBI chr14:19,014,672...19,018,551
Ensembl chr14:37,374,493...37,375,965

G

chymase 1

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

NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548

G

CKLF like MARVEL transmembrane domain containing 5

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

NCBI chr14:4,195,460...4,198,422
Ensembl chr14:22,290,354...22,292,592

G

cochlin

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

NCBI chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943

G

copine 6

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

NCBI chr14:4,848,845...4,856,085
Ensembl chr14:22,973,157...22,980,341

G

cathepsin G

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

NCBI chr14:5,342,517...5,345,218
Ensembl chr14:23,466,265...23,468,960

G

defender against cell death 1

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

NCBI chr14:3,401,048...3,425,359
Ensembl chr14:21,502,618...21,526,793

G

DDB1 and CUL4 associated factor 11

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

NCBI chr14:4,890,956...4,900,296
Ensembl chr14:23,015,680...23,024,650

G

dehydrogenase/reductase 1

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

NCBI chr14:5,066,996...5,076,229
Ensembl chr14:23,190,323...23,199,587

G

dehydrogenase/reductase 4

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

Ensembl chr14:22,831,756...22,846,695

G

dynein axonemal assembly factor 2

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

NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800

G

D-aminoacyl-tRNA deacylase 2

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

NCBI chr14:12,222,744...12,234,227
Ensembl chr14:30,419,810...30,431,296

G

E2F associated phosphoprotein

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

NCBI chr14:15,273,149...15,297,241
Ensembl chr14:33,462,959...33,485,186

G

epididymal protein 3A

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

NCBI chr14:1,608,955...1,610,069
Ensembl chr14:19,666,172...19,666,615

G

epididymal protein 3B

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

NCBI chr14:1,630,027...1,632,566
Ensembl chr14:19,688,641...19,689,084

G

embryonal Fyn-associated substrate

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

NCBI chr14:4,174,676...4,185,215
Ensembl chr14:22,270,952...22,278,732

G

egl-9 family hypoxia inducible factor 3

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

NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241

G

ER membrane protein complex subunit 9

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

NCBI chr14:4,915,214...4,917,889
Ensembl chr14:23,039,400...23,042,054

G

FA complementation group M

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

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

G

F-box protein 33

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

NCBI chr14:20,170,332...20,205,181
Ensembl chr14:38,526,437...38,558,626

G

fat storage inducing transmembrane protein 1

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

NCBI chr14:4,906,504...4,909,119
Ensembl chr14:23,031,818...23,033,459

G

FKBP prolyl isomerase 3

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

NCBI chr14:25,732,308...25,750,885
Ensembl chr14:44,060,160...44,078,742

G

forkhead box A1

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

NCBI chr14:18,347,284...18,352,705

G

forkhead box G1

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

G

fibrous sheath CABYR binding protein

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

NCBI chr14:25,124,746...25,127,510

G

G2/M-phase specific E3 ubiquitin protein ligase

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

NCBI chr14:11,338,212...11,398,545
Ensembl chr14:29,484,584...29,539,430

G

gem nuclear organelle associated protein 2

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

NCBI chr14:19,884,100...19,906,823
Ensembl chr14:38,240,379...38,261,925

G

guanosine monophosphate reductase 2

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

NCBI chr14:5,008,664...5,015,461
Ensembl chr14:23,132,227...23,139,044

G

G protein-coupled receptor 33

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

NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789

G

granzyme B

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

NCBI chr14:5,399,888...5,403,200
Ensembl chr14:23,523,619...23,526,931

G

granzyme H

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

NCBI chr14:5,375,775...5,379,021
Ensembl chr14:23,499,513...23,502,674

G

HAUS augmin like complex subunit 4

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

NCBI chr14:3,766,343...3,777,591
Ensembl chr14:21,865,257...21,875,756

G

HEAT repeat containing 5A

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

NCBI chr14:12,070,011...12,230,065
Ensembl chr14:30,267,861...30,395,893

G

HECT domain E3 ubiquitin protein ligase 1

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

NCBI chr14:11,871,973...11,979,548
Ensembl chr14:30,070,567...30,176,915

G

heterogeneous nuclear ribonucleoprotein C

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

NCBI chr14:2,022,280...2,083,215

G

homeobox and leucine zipper encoding

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

NCBI chr14:4,093,357...4,106,323
Ensembl chr14:22,188,881...22,200,496

G

interleukin 25

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

NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498

G

INSM transcriptional repressor 2

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

NCBI chr14:16,287,866...16,290,884

G

importin 4

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

NCBI chr14:4,956,456...4,965,305
Ensembl chr14:23,079,910...23,088,610

G

interferon regulatory factor 9

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

NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824

G

junctophilin 4

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

NCBI chr14:4,386,487...4,397,552
Ensembl chr14:22,479,813...22,490,924

G

KH and NYN domain containing

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

NCBI chr14:5,205,650...5,216,436
Ensembl chr14:23,329,932...23,340,966

G

kelch domain containing 1

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

NCBI chr14:30,272,009...30,334,693
Ensembl chr14:48,580,779...48,642,724

G

kelch domain containing 2

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

NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105

G

kelch like family member 28

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

NCBI chr14:25,540,348...25,578,933
Ensembl chr14:43,869,220...43,905,989

G

L-2-hydroxyglutarate dehydrogenase

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

NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993

G

dehydrogenase/reductase SDR family member 2, mitochondrial

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

NCBI chr14:4,457,316...4,466,551
Ensembl chr14:22,551,645...22,558,926

G

myosin-7

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

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

leukotriene B4 receptor 2

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

NCBI chr14:5,076,270...5,085,596
Ensembl chr14:23,199,608...23,208,877

G

putative uncharacterized protein encoded by LINC01599

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

NCBI chr14:30,671,031...30,680,109

G

olfactory receptor 4E2

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

NCBI chr14:2,474,364...2,475,305
Ensembl chr14:20,591,011...20,591,952

G

non-secretory ribonuclease

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

NCBI chr14:1,759,482...1,760,873
Ensembl chr14:19,841,364...19,841,849

G

signal recognition particle subunit SRP54

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

NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151

G

olfactory receptor 5AU1

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

NCBI chr14:1,969,308...1,970,494
Ensembl chr14:20,051,042...20,052,130

G

olfactory receptor 10G3

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

NCBI chr14:2,386,394...2,387,532
Ensembl chr14:20,462,044...20,462,985

G

olfactory receptor 10G2

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

NCBI chr14:2,418,780...2,419,723

G

leucine rich repeat and fibronectin type III domain containing 5

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

NCBI chr14:22,185,289...22,480,641
Ensembl chr14:40,676,278...40,814,212

G

LDL receptor related protein 10

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

NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936

G

leucine rich repeat protein 1

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

NCBI chr14:30,176,924...30,192,847
Ensembl chr14:48,486,914...48,502,794

G

leukotriene B4 receptor

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

NCBI chr14:5,088,907...5,094,571
Ensembl chr14:23,215,469...23,216,527

G

MAP3K12 binding inhibitory protein 1

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

NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746

G

MAM domain containing glycosylphosphatidylinositol anchor 2

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

NCBI chr14:27,434,904...28,274,969
Ensembl chr14:45,752,214...46,583,991

G

magnesium dependent phosphatase 1

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

NCBI chr14:4,987,859...4,992,300
Ensembl chr14:23,112,062...23,116,606

G

methyltransferase like 17

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

NCBI chr14:1,804,655...1,811,771
Ensembl chr14:19,886,675...19,893,901

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

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

NCBI chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906

G

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

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

NCBI chr14:30,199,011...30,201,566

G

MIA SH3 domain ER export factor 2

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

NCBI chr14:20,006,513...20,123,814
Ensembl chr14:38,361,828...38,513,998

G

mirror-image polydactyly 1

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

NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352

G

MIS18 binding protein 1

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

NCBI chr14:25,819,302...25,869,819
Ensembl chr14:44,147,183...44,189,888

G

matrix metallopeptidase 14

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

NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058

G

mitochondrial ribosomal protein L52

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

NCBI chr14:3,647,387...3,651,940
Ensembl chr14:21,746,646...21,751,108

G

myosin heavy chain 6

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

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

NDRG family member 2

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

NCBI chr14:1,831,764...1,840,819
Ensembl chr14:19,913,674...19,967,470

G

NEDD8 ubiquitin like modifier

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

NCBI chr14:4,993,011...5,008,620
Ensembl chr14:23,117,271...23,132,249

G

nuclear export mediator factor

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

NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258

G

nuclear factor of activated T cells 4

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

NCBI chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249

G

NFKB inhibitor alpha

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

NCBI chr14:16,155,331...16,158,588

G

neuroguidin

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

NCBI chr14:4,288,325...4,296,671
Ensembl chr14:22,382,334...22,390,718

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 chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339

G

NOVA alternative splicing regulator 1

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

NCBI chr14:7,193,308...7,345,535
Ensembl chr14:25,314,077...25,466,861

G

neuronal PAS domain protein 3

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

NCBI chr14:13,701,786...14,568,738
Ensembl chr14:31,893,101...32,758,096

G

neural retina leucine zipper

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

NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187

G

NUBP iron-sulfur cluster assembly factor, mitochondrial

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

NCBI chr14:12,338,341...12,628,346

G

NYN domain and retroviral integrase containing

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

NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905

G

OXA1L mitochondrial inner membrane protein

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

NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101

G

poly(A) binding protein nuclear 1

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

NCBI chr14:4,126,179...4,144,810
Ensembl chr14:22,220,986...22,239,403

G

paired box 9

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

NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697

G

phosphoenolpyruvate carboxykinase 2, mitochondrial

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

NCBI chr14:4,872,276...4,882,118
Ensembl chr14:22,996,813...23,006,775

G

pinin, desmosome associated protein

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

NCBI chr14:19,945,185...19,952,922
Ensembl chr14:38,300,782...38,308,512

G

DNA polymerase epsilon 2, accessory subunit

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

NCBI chr14:30,222,957...30,268,455
Ensembl chr14:48,531,945...48,576,700

G

protein phosphatase 1 regulatory subunit 3E

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

NCBI chr14:4,118,827...4,122,294
Ensembl chr14:22,215,635...22,216,794

G

protein phosphatase 2 regulatory subunit B''gamma

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

NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842

G

protein kinase D1

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

NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030

G

protein arginine methyltransferase 5

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

NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018

G

protein only RNase P catalytic subunit

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

NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657

G

pre-mRNA processing factor 39

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

NCBI chr14:25,700,636...25,732,012
Ensembl chr14:44,027,452...44,059,865

G

proteasome 20S subunit alpha 6

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

NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347

G

proteasome subunit beta 11

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

NCBI chr14:3,861,823...3,863,949
Ensembl chr14:21,959,146...21,960,048

G

proteasome 20S subunit beta 5

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

NCBI chr14:3,845,951...3,855,335
Ensembl chr14:21,943,432...21,952,169

G

proteasome activator subunit 1

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

NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405

G

proteasome activator subunit 2

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

NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296

G

RAB2B, member RAS oncogene family

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

NCBI chr14:2,276,798...2,294,730
Ensembl chr14:20,353,701...20,371,629

G

Rab geranylgeranyltransferase subunit alpha

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

NCBI chr14:5,041,694...5,047,775
Ensembl chr14:23,163,034...23,171,311

G

Ral GTPase activating protein catalytic subunit alpha 1

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

NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430

G

RNA binding motif protein 23

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

NCBI chr14:3,710,492...3,736,415
Ensembl chr14:21,817,434...21,835,668

G

REC8 meiotic recombination protein

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

NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948

G

RRAD and GEM like GTPase 2

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

NCBI chr14:3,700,397...3,704,897
Ensembl chr14:21,800,155...21,804,692

G

receptor interacting serine/threonine kinase 3

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

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

ribonuclease A family member 1, pancreatic

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

NCBI chr14:1,663,595...1,665,121
Ensembl chr14:19,720,127...19,720,597

G

ribonuclease A family member 13 (inactive)

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

NCBI chr14:1,847,810...1,849,797

G

ribonuclease A family member 4

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

NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201

G

ribonuclease A family member k6

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

NCBI chr14:1,642,819...1,644,582
Ensembl chr14:19,700,536...19,700,988

G

ribonuclease A family member 7

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

NCBI chr14:1,857,213...1,858,781
Ensembl chr14:19,939,884...19,940,354

G

ribonuclease A family member 8

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

NCBI chr14:1,872,595...1,873,331
Ensembl chr14:19,954,680...19,955,147

G

ring finger protein 212B

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

NCBI chr14:4,056,671...4,093,210
Ensembl chr14:22,153,247...22,188,319

G

ring finger protein 31

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

NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923

G

RPGR interacting protein 1

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

NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064

G

ribosomal protein L10 like

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

NCBI chr14:27,254,150...27,255,381
Ensembl chr14:45,565,079...45,565,723

G

ribosomal protein L36a like

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

NCBI chr14:30,196,924...30,198,944
Ensembl chr14:48,506,945...48,507,265

G

ribosomal protein S29

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

NCBI chr14:30,155,559...30,164,677

G

spalt like transcription factor 2

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

NCBI chr14:2,338,806...2,354,970
Ensembl chr14:20,416,071...20,431,000

G

sec1 family domain containing 1

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

NCBI chr14:11,401,378...11,508,418
Ensembl chr14:29,602,241...29,709,133

G

short chain dehydrogenase/reductase family 39U member 1

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

NCBI chr14:5,216,102...5,219,234
Ensembl chr14:23,339,388...23,342,423

G

SEC23 homolog A, COPII coat complex component

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

NCBI chr14:19,802,612...19,873,076
Ensembl chr14:38,159,381...38,229,550

G

solute carrier family 22 member 17

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

NCBI chr14:4,165,419...4,172,002
Ensembl chr14:22,260,079...22,266,667

G

solute carrier family 25 member 21

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

NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633

G

solute carrier family 39 member 2

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

NCBI chr14:1,813,992...1,818,226
Ensembl chr14:19,896,112...19,898,728

G

solute carrier family 7 member 7

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

NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057

G

solute carrier family 7 member 8

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

NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112

G

sorting nexin 6

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

NCBI chr14:15,319,526...15,388,326
Ensembl chr14:33,511,019...33,576,705

G

SOS Ras/Rho guanine nucleotide exchange factor 2

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

NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764

G

serine palmitoyltransferase small subunit A

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

NCBI chr14:15,190,833...15,219,882

G

somatostatin receptor 1

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

NCBI chr14:18,968,969...18,973,560
Ensembl chr14:37,329,309...37,330,484

G

striatin 3

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

NCBI chr14:11,668,426...11,798,776
Ensembl chr14:29,869,414...29,997,838

G

syntaxin binding protein 6

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

NCBI chr14:5,578,254...5,819,152

G

SPT16 homolog, facilitates chromatin remodeling subunit

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

NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074

G

transglutaminase 1

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

NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477

G

thiamine triphosphatase

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

NCBI chr14:4,374,439...4,378,028
Ensembl chr14:22,467,506...22,471,356

G

TERF1 interacting nuclear factor 2

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

NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825

G

transmembrane 9 superfamily member 1

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

NCBI chr14:4,965,352...4,972,476

G

transmembrane protein 253

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

NCBI chr14:1,913,655...1,917,874

G

TOG array regulator of axonemal microtubules 1

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

NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042

G

TOX high mobility group box family member 4

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

NCBI chr14:2,294,892...2,316,901
Ensembl chr14:20,371,820...20,393,696

G

tubulin polymerization promoting protein family member 2

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

NCBI chr14:1,839,314...1,847,789
Ensembl chr14:19,927,478...19,928,973

G

trafficking protein particle complex subunit 6B

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

NCBI chr14:19,917,745...19,940,589
Ensembl chr14:38,273,526...38,296,231

G

testis specific serine kinase 4

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

NCBI chr14:4,980,178...4,984,291
Ensembl chr14:23,104,197...23,108,037

G

tetratricopeptide repeat domain 6

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

NCBI chr14:18,363,956...18,601,589
Ensembl chr14:36,740,892...36,962,078

G

valosin containing protein lysine methyltransferase

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

NCBI chr14:30,695,992...30,707,327
Ensembl chr14:49,002,181...49,013,187

G

zinc finger homeobox 2

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

NCBI chr14:4,339,326...4,370,756
Ensembl chr14:22,433,148...22,463,925

G

zinc finger protein 219

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

NCBI chr14:1,904,632...1,919,304
Ensembl chr14:19,986,653...20,000,300

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 chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

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 chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

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 1:159,156,229...159,165,898
Ensembl chr 1:163,311,111...163,323,554

G

ATP synthase peripheral stalk subunit d

protein:altered expression:cerebral cortex (rat)

NCBI chr17:68,986,362...68,994,246
Ensembl chr17:74,541,363...74,549,700

G

bone gamma-carboxyglutamate protein

mRNA,protein:decreased expression:skull, serum

NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432

G

dual oxidase 2

ClinVar Annotator: match by term: Congenital hypothyroidism

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

NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281

G

dual oxidase maturation factor 2

ClinVar Annotator: match by term: Congenital hypothyroidism

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

NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974

G

early growth response 1

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

forkhead box E1

NCBI chr 9:68,943,747...68,947,226

G

glucose-6-phosphate dehydrogenase

protein:decreased expression:hippocampus

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

growth hormone receptor

treatment

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

insulin like growth factor 1

protein:decreased expression:serum (rat)

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

immunoglobulin superfamily member 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,406,725...120,422,636
Ensembl chr X:130,714,061...130,729,963

G

inhibin subunit beta B

mRNA:decreased expression:testes (rat)

NCBI chr2B:7,278,944...7,284,632

G

iodotyrosine deiodinase

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr 6:148,178,638...148,216,122
Ensembl chr 6:152,886,373...152,922,152

G

somatotropin

treatment

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

neurofilament heavy chain

protein:decreased expression, increased phosphorylation

NCBI chr22:10,525,738...10,536,788

G

neurofilament light chain

protein:decreased expression, increased phosphorylation

NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694

G

neurofilament medium chain

protein:decreased expression, increased phosphorylation

NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468

G

nerve growth factor receptor

treatment

NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966

G

paired box 8

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:16763387 PMID:25146893 PMID:26362610

NCBI chr2A:88,845,877...88,905,266
Ensembl chr2A:114,162,110...114,222,865

G

PPARG coactivator 1 alpha

mRNA:decreased expression:cerebellum (rat)

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

RUNX family transcription factor 2

NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637

G

solute carrier family 26 member 7

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr 8:87,908,807...88,057,623
Ensembl chr 8:89,861,279...90,009,899

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 chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

G

thyroglobulin

ClinVar Annotator: match by term: Congenital hypothyroidism

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

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

G

thyroid peroxidase

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

G

thyrotropin releasing hormone receptor

NCBI chr 8:105,739,651...105,780,470
Ensembl chr 8:107,886,593...107,918,825

G

thyroid stimulating hormone subunit beta

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532

NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Congenital hypothyroidism

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

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 chr20:55,370,122...55,377,616
Ensembl chr20:56,730,882...56,738,741

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 chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447

G

immunoglobulin superfamily member 1

ClinVar Annotator: match by term: TSH RESISTANCE

PMID:25741868 PMID:28492532

NCBI chr X:120,406,725...120,422,636
Ensembl chr X:130,714,061...130,729,963

G

thyroid peroxidase

ClinVar Annotator: match by term: TSH RESISTANCE

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

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 chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447

G

immunoglobulin superfamily member 1

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

PMID:25741868 PMID:28492532

NCBI chr X:120,406,725...120,422,636
Ensembl chr X:130,714,061...130,729,963

G

thyroid peroxidase

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

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

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 chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104

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 chr2A:88,845,877...88,905,266
Ensembl chr2A:114,162,110...114,222,865

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 chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028

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 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514

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 chr17:17,188,390...17,196,315
Ensembl chr17:17,409,669...17,417,600

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 chr17:17,196,459...17,226,263

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 chr 8:105,739,651...105,780,470
Ensembl chr 8:107,886,593...107,918,825

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:2,096,684...2,352,951
Ensembl chr X:9,525,194...9,604,290

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:97,818,895...97,835,986
Ensembl chr X:108,202,208...108,205,821

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 chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

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 chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923

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 chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

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 chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447

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 chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374

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...

Ensembl chr 1:136,007,476...136,047,355

G

prolactin receptor

OMIM:155240

NCBI chr 5:75,139,852...75,321,695
Ensembl chr 5:80,532,058...80,600,403

G

ret proto-oncogene

susceptibility

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 chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

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 chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281

G

solute carrier family 5 member 5

ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

G

thyroglobulin

ClinVar Annotator: match by term: Thyroid dyshormonogenesis

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

chromobox 7

protein:decreased expression:thyroid gland:

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

glycoprotein hormones, alpha polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300

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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078

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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

multiple inositol-polyphosphate phosphatase 1

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

NCBI chr10:84,230,676...84,280,042
Ensembl chr10:87,737,649...87,787,130

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 chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

paired box 8

CTD Direct Evidence: marker/mechanism

NCBI chr2A:88,845,877...88,905,266
Ensembl chr2A:114,162,110...114,222,865

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

phosphatase and tensin homolog

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

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

SLIT-ROBO Rho GTPase activating protein 1

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

PMID:23539728 PMID:25741868 PMID:28492532

NCBI chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180

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 chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960

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 chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960

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:42,137,523...42,299,716
Ensembl chr X:49,854,165...50,006,363

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 chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637

G

TEK receptor tyrosine kinase

mRNA:increased expression:thyroid

NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572

G

thyroglobulin

susceptibility

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

PMID:1752952 PMID:8094490 PMID:24582622

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

G

thyroid peroxidase

CTD Direct Evidence: marker/mechanism

PMID:12564727 PMID:14751036 PMID:17547680

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

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 chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

C-C motif chemokine ligand 2

mRNA:increased expression:orbital fat (human)

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cytotoxic T-lymphocyte associated protein 4

no_association
severity

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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

intercellular adhesion molecule 1

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

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interferon gamma

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

insulin like growth factor 1

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

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

interleukin 10

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

PMID:11753760 PMID:21067483

RGD:7364859 RGD:7365083

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 18

treatment

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 alpha

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 receptor antagonist

severity
susceptibility

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

PMID:12186498 PMID:19702713

RGD:7387296 RGD:8549808

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 2

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

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 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815

G

interleukin 3

DNA: SNP: : rs40401

NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213

G

kinesin family member 1A

NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326

G

peroxisome proliferator activated receptor gamma

mRNA:increased expression:orbital fat (human)

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

protein tyrosine phosphatase non-receptor type 22

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

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

stearoyl-CoA desaturase

CTD Direct Evidence: marker/mechanism

NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776

G

serpin family E member 1

severity

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

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

tumor necrosis factor

susceptibility

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

PMID:8444271 PMID:15219383 PMID:16191343

RGD:12904066 RGD:7365073 RGD:7794734

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

thyroid stimulating hormone receptor

severity

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

PMID:20237164 PMID:22673349 PMID:31705858

RGD:8548662 RGD:8548673

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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

associated with thyroid diseases; protein:increased expression:serum

PMID:18997483 PMID:20583542

RGD:5686818 RGD:5686857

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

adrenoceptor beta 2

susceptibility

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

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr2A:62,276,662...62,305,286
Ensembl chr2A:63,435,289...63,436,482

G

butyrophilin like 2

onset

DNA:SNP: :rs17577980(human)

NCBI chr 6:32,067,223...32,126,032

G

complement C4A (Chido/Rodgers blood group)

NCBI chr 6:31,648,710...31,655,792

G

catalase

treatment

protein:decreased activity:erythrocyte:

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

CD4 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204

G

CD40 molecule

no_association
onset

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

PMID:12593727 PMID:15307939 PMID:18755875

RGD:8547766 RGD:8547769 RGD:8547778

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

treatment

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

cytotoxic T-lymphocyte associated protein 4

susceptibility
no_association

DNA:SNP: :rs231779(human)
DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human)
DNA:SNP:promoter:-318C>T (human)
DNA:polymorphism:exon:49G>A(human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :-318C>T(rs11571302)(human)
DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

cytochrome P450 family 1 subfamily A member 1

associated with Herpesviridae Infections

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

DNA methyltransferase 1

treatment

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

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

G

estrogen receptor 2

no_association
susceptibility

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

PMID:11180758 PMID:17941906

RGD:10045850 RGD:8693348

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

Fas cell surface death receptor

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

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fc receptor like 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:133,038,100...133,062,467
Ensembl chr 1:136,830,553...136,855,027

G

FKBP prolyl isomerase 1B

NCBI chr2A:24,047,287...24,065,765
Ensembl chr2A:24,145,893...24,159,082

G

GC vitamin D binding protein

susceptibility

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

PMID:12050214 PMID:16868893

RGD:5509883 RGD:5509886

NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism: :

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

intercellular adhesion molecule 1

onset
no_association

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

PMID:12357047 PMID:14557478 PMID:17873320

RGD:8158121 RGD:8158124 RGD:8547702

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170

G

interferon gamma

treatment
susceptibility

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

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

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

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

insulin like growth factor 1

mRNA,protein:increased expression:thyroid gland:

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

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

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 10

no_association

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

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

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

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

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 chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548

G

interleukin 17A

susceptibility

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

PMID:22816799 PMID:33132244

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

no_association

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

PMID:12689659 PMID:16571086

RGD:8655878 RGD:8655916

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 beta

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

PMID:2674184 PMID:16025481

RGD:7401177 RGD:7401207

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 2

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

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 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815

G

interleukin 3

DNA: SNP: : rs40401

NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

disease_progression

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

PMID:12818091 PMID:16372246 PMID:21235536

RGD:7829719 RGD:7829750

NCBI chr 7:23,415,922...23,420,767

G

interleukin 6 receptor

disease_progression

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

PMID:12818091 PMID:16372246

NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089

G

integrin subunit beta 3

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

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

PMID:10468909 PMID:11272094

RGD:7421572 RGD:7483568

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

class I histocompatibility antigen, Gogo-B*0101 alpha chain

onset
susceptibility

DNA:polymorphism:cds:HLA-B39 (human)
DNA:polymorphism:cds:HLA-B8 (human)
DNA:polymorphism, haplotype:cds:HLA-B*5801 (human)
DNA:polymorphism:cds:HLA-B*46 (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 chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067

G

lymphotoxin alpha

no_association

DNA:polymorphism

PMID:1346144 PMID:7928443

RGD:8548778 RGD:8548790

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

methylenetetrahydrofolate reductase

susceptibility

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

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

8-oxoguanine DNA glycosylase

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

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

programmed cell death 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:130,849,353...130,858,776

G

protein tyrosine phosphatase non-receptor type 22

no_association

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

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

RGD:6484538 RGD:7829738 RGD:7829763

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

ribonuclease T2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:164,895,396...164,923,008
Ensembl chr 6:169,872,780...169,899,599

G

serpin family E member 1

treatment

protein:increased expression:tears (human)

PMID:11980614 PMID:22385289

RGD:8547709 RGD:8547756

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

signal transducer and activator of transcription 4

NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011

G

signal transducer and activator of transcription 6

Ensembl chr12:32,068,679...32,085,099

G

thyroglobulin

no_association
treatment

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

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

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

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

tumor necrosis factor

susceptibility

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

PMID:15219383 PMID:17348243 PMID:19732761

RGD:7365073 RGD:7394790 RGD:7394807

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

G

tumor protein p53

susceptibility

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

thyroid peroxidase

CTD Direct Evidence: marker/mechanism

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

G

thyroid stimulating hormone subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028

G

thyroid stimulating hormone receptor

no_association
treatment

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

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 chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

G

vitamin D receptor

no_association

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

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

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

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

G

vascular endothelial growth factor A

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

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

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 chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527

G

complement C1s

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614

G

catalase

protein:increased activity:plasma:

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

CD40 molecule

protein:increased expression:serum

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

protein:increased expression:serum

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

estrogen receptor 2

no_association

DNA:repeat

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

Fas cell surface death receptor

severity

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

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

heat shock protein family D (Hsp60) member 1

protein:increased expression:throcyte:

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

intercellular adhesion molecule 1

protein:increased expression:serum

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interferon gamma

severity

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

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 6

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

PMID:16372246 PMID:21235536

NCBI chr 7:23,415,922...23,420,767

G

interleukin 6 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089

G

HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

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

PMID:8157715 PMID:19254248

RGD:5147613 RGD:7483569

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

mannose binding lectin 2

susceptibility

DNA:polymorphism:exon:

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

proteasome 20S subunit beta 9

NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402

G

protein tyrosine phosphatase non-receptor type 22

DNA: snp: cds: rs2476601

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

thyroglobulin

no_association

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

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

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

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

G

thyroid stimulating hormone receptor

DNA:SNP:intron:rs3783938 (human)

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

annexin A1

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

annexin A2

protein:decreased expression:thyroid gland:

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

G

annexin A5

protein:decreased expression:thyroid gland:

NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972

G

apolipoprotein A1

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein A2

NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959

G

apolipoprotein C3

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

aquaporin 1 (Colton blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141

G

3-hydroxybutyrate dehydrogenase 1

protein:decreased activity:liver, mitochondrion (rat)

NCBI chr 3:194,917,904...194,979,451
Ensembl chr 3:204,797,757...204,863,889

G

calcium binding protein 39

mRNA,protein:increased expression:muscle:

NCBI chr2B:117,965,688...118,074,063
Ensembl chr2B:236,809,549...236,870,646

G

CART prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 5:43,591,683...43,593,586
Ensembl chr 5:44,236,114...44,238,229

G

catalase

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

PMID:19914224 PMID:23391542

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

CD40 molecule

treatment

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

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 chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

ceruloplasmin

protein:increased expression:serum

NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544

G

citrate synthase

NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854

G

cathepsin L

mRNA:increased expression:extensor digitorum longus (rat)

NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

glutathione-disulfide reductase

treatment

CTD Direct Evidence: marker/mechanism

PMID:19914224 PMID:25242845

NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557

G

heme oxygenase 1

treatment

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

insulin like growth factor 1 receptor

protein:increased expression:myocardium

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 10

associated with Graves Disease

PMID:21474590 PMID:24534949

RGD:11049472 RGD:7364857

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

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

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

minichromosome maintenance complex component 7

NCBI chr 7:92,128,037...92,136,976
Ensembl chr 7:105,561,591...105,570,720

G

methylenetetrahydrofolate reductase

protein:increased activity:liver (rat)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

nuclear receptor subfamily 1 group D member 1

NCBI chr17:17,188,390...17,196,315
Ensembl chr17:17,409,669...17,417,600

G

proprotein convertase subtilisin/kexin type 1

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

PMID:15291740 PMID:16497799

RGD:1601276 RGD:2308889

NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

PPARG coactivator 1 alpha

protein:increased expression:soleus muscle (rat)

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

parathyroid hormone

ClinVar Annotator: match by term: Primary hyperthyroidism

PMID:1425431 PMID:18784115 PMID:25741868

NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802

G

serpin family A member 7

protein:decreased expression:serum (rat)

NCBI chr X:95,163,842...95,169,230
Ensembl chr X:105,541,475...105,548,132

G

serpin family E member 1

protein:increased expression:plasma (human)

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

solute carrier family 34 member 1

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

NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975

G

solute carrier family 9 member A1

protein:increased expression:heart, microsome

NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089

G

superoxide dismutase 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:19914224 PMID:22476324

NCBI chr21:18,029,831...18,037,526

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

serine/threonine kinase 11

mRNA,protein:increased expression:muscle:

Ensembl chr19:1,188,537...1,210,677

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

PMID:7800007 PMID:8413627 PMID:8964822

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

G

uncoupling protein 3

protein:increased expression:skeletal muscle, mitochondrion

NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274

G

vimentin

protein:increased expression, hyperphosphorylation:testis

NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642

hyperthyroxinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

susceptibility

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

iodothyronine deiodinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:53,167,840...53,184,961
Ensembl chr 1:54,762,744...54,779,679

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 chr12:49,082,122...49,158,524
Ensembl chr12:49,941,914...50,011,140

G

activity dependent neuroprotector homeobox

ClinVar Annotator: match by term: Hypothyroidism

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

NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387

G

adrenoceptor beta 2

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

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

G

aminolevulinate dehydratase

protein:decreased activity:blood (rat)

NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784

G

annexin A1

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

annexin A2

protein:increased expression:thyroid gland:

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

G

annexin A5

protein:increased expression:thyroid gland:

NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972

G

apolipoprotein A5

protein:decreased expression:liver

NCBI chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286

G

apolipoprotein C3

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

apolipoprotein E

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

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

aquaporin 3 (Gill blood group)

NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438

G

arylsulfatase A

NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

mRNA:decreased expression:heart left ventricle

NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923

G

ATP synthase peripheral stalk subunit OSCP

treatment

protein:decreased expression:liver, mitochondrion (rat)

PMID:9733093 PMID:19878644

RGD:13830874 RGD:13838730

NCBI chr21:20,270,442...20,282,865

G

BCL2 associated agonist of cell death

NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257

G

brain derived neurotrophic factor

NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239

G

catalase

treatment

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

caveolin 1

protein:increased expression:cerebellum

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

cyclin dependent kinase 5 regulatory subunit 1

NCBI chr17:24,285,069...24,289,311
Ensembl chr17:24,577,537...24,579,232

G

chromodomain helicase DNA binding protein 7

ClinVar Annotator: match by term: Hypothyroidism

NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186

G

collagen type I alpha 2 chain

mRNA:increased expression:heart ventricle

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

G

collagen type II alpha 1 chain

treatment

NCBI chr12:40,726,137...40,757,690

G

complement C3b/C4b receptor 1 (Knops blood group)

ClinVar Annotator: match by term: Hypothyroidism

NCBI chr 1:183,094,601...183,246,957

G

citrate synthase

PMID:15817832 PMID:29748131

RGD:243048477 RGD:243048482

NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854

G

cytochrome P450 family 19 subfamily A member 1

mRNA:increased expression:ovary (rat)

NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554

G

doublecortin

protein:altered expression:cerebellum

NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582

G

dihydropyrimidinase like 2

mRNA, protein:increased expression:thyroid gland

NCBI chr 8:25,786,950...25,927,782
Ensembl chr 8:22,693,863...22,834,080

G

ELAV like RNA binding protein 4

mRNA,protein:increased expression:brain:

NCBI chr 1:49,288,364...49,444,457
Ensembl chr 1:50,853,276...50,951,058

G

ectonucleoside triphosphate diphosphohydrolase 1

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

NCBI chr10:92,365,267...92,511,852
Ensembl chr10:95,828,094...95,983,257

G

coagulation factor VII

protein:increased expression:plasma (rat)

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

forkhead box P3

treatment

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

gastric inhibitory polypeptide

protein:increased expression:plasma (rat)

NCBI chr17:8,573,104...8,580,424

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 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614

G

glutathione peroxidase 1

treatment

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

G protein-coupled receptor kinase 3

mRNA:increased expression:heart (rat)

NCBI chr22:6,579,664...6,789,846
Ensembl chr22:24,353,533...24,509,560

G

gelsolin

Protein:increased expression:cochlea

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

G

interferon gamma

treatment

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

insulin like growth factor 1

protein:decreased expression:serum (rat)

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor binding protein 2

NCBI chr2B:103,893,724...103,925,318

G

interleukin 10

treatment

PMID:24534949 PMID:29896255

RGD:11049472 RGD:38549578

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 4

treatment

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

ISL LIM homeobox 1

susceptibility

NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674

G

L1 cell adhesion molecule

mRNA,protein:increased expression: cerebral cortex:

NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228

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 chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005

G

HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

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

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

myosin-7

PMID:1703406 PMID:2950137

RGD:12792943 RGD:12798563

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

microtubule associated protein 1A

protein:increased expression:cerebellum

NCBI chr15:22,472,641...22,493,293
Ensembl chr15:40,627,099...40,647,752

G

microtubule associated protein 1B

protein:increased expression:cerebellum

NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393

G

myelin basic protein

NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351

G

myelin associated oligodendrocyte basic protein

NCBI chr 3:39,372,102...39,450,066
Ensembl chr 3:39,688,104...39,699,486

G

myostatin

NCBI chr2B:77,364,927...77,452,426
Ensembl chr2B:195,283,903...195,290,922

G

metallothionein 3

mRNA:increased expression:brain

NCBI chr16:36,875,919...36,877,558
Ensembl chr16:56,007,922...56,028,093

G

methylenetetrahydrofolate reductase

protein:decreased activity:liver (rat)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

myosin heavy chain 6

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

neural cell adhesion molecule 1

protein:increased expression:hippocampus

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

nuclear receptor coactivator 1

mRNA:altered expression:brain

NCBI chr2A:24,485,068...24,764,135
Ensembl chr2A:24,733,117...24,859,488

G

nuclear receptor corepressor 1

mRNA:altered expression:brain

NCBI chr17:34,934,452...35,121,195

G

neurofilament heavy chain

treatment

NCBI chr22:10,525,738...10,536,788

G

neurofilament light chain

treatment

NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694

G

neurofilament medium chain

treatment

NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468

G

nerve growth factor

mRNA:decreased expression:hypothalamus

NCBI chr 1:87,223,597...87,276,759

G

nitric oxide synthase 2

mRNA, protein:altered expression:cerebral cortex

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nitric oxide synthase 3

protein:decreased activity:ovary (rat)

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

nuclear receptor subfamily 1 group D member 1

NCBI chr17:17,188,390...17,196,315
Ensembl chr17:17,409,669...17,417,600

G

neurogranin

treatment

protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn

PMID:16004982 PMID:20041985

RGD:9835423 RGD:9835430

NCBI chr11:119,566,934...119,574,248

G

otoferlin

mRNA, protein:decreased expression:cochlea (rat)

NCBI chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278

G

peptidylglycine alpha-amidating monooxygenase

mRNA:increased stability:pituitary gland

NCBI chr 5:98,104,058...98,385,157
Ensembl chr 5:103,913,456...104,085,774

G

proliferating cell nuclear antigen

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

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 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486

G

phosphorylase kinase regulatory subunit alpha 1

NCBI chr X:61,816,613...61,949,179
Ensembl chr X:71,900,762...72,033,055

G

paired like homeodomain 2

mRNA, protein:decreased expression:ovary, granulosa cell

NCBI chr 4:103,112,624...103,137,356

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

mRNA:decreased expression:multiple organs

NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

mRNA:decreased expression:multiple organs

NCBI chr 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

mRNA:decreased expression:multiple organs

NCBI chr 7:93,347,335...93,358,921
Ensembl chr 7:106,587,858...106,599,605

G

patatin like phospholipase domain containing 3

treatment

NCBI chr22:24,812,831...24,836,161
Ensembl chr22:43,004,499...43,027,003

G

proteasome 20S subunit beta 9

NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402

G

protein tyrosine phosphatase non-receptor type 22

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

reelin

protein:increased expression:layers of neocortex, hypothalamus (rat)

NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037

G

ret proto-oncogene

ClinVar Annotator: match by term: Hypothyroidism

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More...

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

serpin family A member 7

protein:increased expression:liver

NCBI chr X:95,163,842...95,169,230
Ensembl chr X:105,541,475...105,548,132

G

sonic hedgehog signaling molecule

mRNA:decreased expression:cerebellum

NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651

G

solute carrier family 16 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:63,673,992...63,787,011
Ensembl chr X:73,791,200...73,903,727

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Hypothyroidism

NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637

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 chr 7:95,363,028...95,437,527
Ensembl chr 7:108,088,197...108,178,578

G

solute carrier family 2 member 1

protein:decreased expression:cerebral cortex

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

solute carrier family 30 member 10

CTD Direct Evidence: marker/mechanism

NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228

G

solute carrier family 34 member 1

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

NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975

G

solute carrier family 9 member A1

protein:decreased expression:heart, microsome

NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089

G

superoxide dismutase 1

treatment

mRNA:decreased expression:renal cortex (rat)

PMID:21607622 PMID:22076484

RGD:8655983 RGD:8655989

NCBI chr21:18,029,831...18,037,526

G

superoxide dismutase 2

treatment

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

steroid 5 alpha-reductase 1

mRNA:decreased expression:epididymus (rat)

NCBI chr 5:6,953,795...6,996,010
Ensembl chr 5:6,629,093...6,664,264

G

steroidogenic acute regulatory protein

mRNA:increased expression:corpus luteum (rat)

NCBI chr 8:37,446,334...37,454,102
Ensembl chr 8:34,623,201...34,629,544

G

thyroglobulin

treatment

ClinVar Annotator: match by term: Hypothyroidism

PMID:16365524 PMID:25741868

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

G

thrombomodulin

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

translocase of outer mitochondrial membrane 70

mRNA:increased expression:striatum

NCBI chr 3:97,459,180...97,497,175
Ensembl chr 3:104,139,473...104,178,074

G

thyroid peroxidase

Hypothyroidism, congenital

PMID:1748985 PMID:2061865 PMID:2307615 PMID:3223852 PMID:7695146 More...

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

G

thyrotropin releasing hormone

protein:increased expression:hypothalamus, neuron

NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736

G

thyrotropin releasing hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:105,739,651...105,780,470
Ensembl chr 8:107,886,593...107,918,825

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 chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Hypothyroidism

PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 More...

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

G

uncoupling protein 2

mRNA, protein:decreased expression:kidney

NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185

G

uncoupling protein 3

protein:decreased expression:skeletal muscle, mitochondrion

NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274

G

Wnt family member 3A

mRNA:decreased expression:hippocampus

NCBI chr 1:203,409,294...203,463,214
Ensembl chr 1:208,628,706...208,674,469

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 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201

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:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817

G

FA complementation group C

ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement

NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198

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:120,406,725...120,422,636
Ensembl chr X:130,714,061...130,729,963

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:95,163,842...95,169,230
Ensembl chr X:105,541,475...105,548,132

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 chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028

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 chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725

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 chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201

G

ubiquitin protein ligase E3 component n-recognin 7

ClinVar Annotator: match by term: Li-Campeau syndrome

PMID:25741868 PMID:33340455

NCBI chr14:73,839,702...73,861,830
Ensembl chr14:93,176,149...93,198,150

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 chr14:31,122,551...31,222,537
Ensembl chr14:49,476,733...49,524,392

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 chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

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 9:3,633,416...4,125,420
Ensembl chr 9:3,827,712...4,300,658

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 chr 7:23,415,922...23,420,767

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 chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447

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 chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975

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 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409

G

ubiquitin protein ligase E3B

ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome

NCBI chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216

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 chr16:1,953,439...1,956,349
Ensembl chr16:3,127,610...3,128,263

G

diaphanous related formin 1

ClinVar Annotator: match by term: Pendred syndrome

NCBI chr 5:136,876,396...136,980,097

G

forkhead box I1

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome

PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386

NCBI chr 5:165,468,600...165,473,088
Ensembl chr 5:172,228,840...172,232,692

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 chr 1:135,391,321...135,424,100

G

myosin VIIA

ClinVar Annotator: match by term: Pendred syndrome

PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709

NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752

G

otoferlin

ClinVar Annotator: match by term: Pendred syndrome

NCBI chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278

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 chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637

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 chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960

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 chr10:84,230,676...84,280,042
Ensembl chr10:87,737,649...87,787,130

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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

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 chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Thyroid cancer

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

G

cadherin 16

mRNA, protein:decreased expression:Thyroid

NCBI chr16:47,223,506...47,234,305
Ensembl chr16:66,325,615...66,335,657

G

mitogen-activated protein kinase 1

disease_progression

mRNA, protein:increased expression

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

MYC proto-oncogene, bHLH transcription factor

mRNA:increased expression:thyroid (mouse)

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

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 chr 9:68,943,747...68,947,226

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 chr10:110,146,311...110,182,871
Ensembl chr10:113,580,321...113,616,810

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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

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 chr 8:17,140,458...17,246,165
Ensembl chr 8:14,093,988...14,199,691

G

RAD50 interactor 1

ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1

PMID:16199547 PMID:25741868 PMID:28492532 PMID:31204009 PMID:33471991

NCBI chr 7:97,522,208...97,567,897
Ensembl chr 7:110,252,776...110,287,702

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 chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

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 chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

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 chr 8:129,690,546...129,757,660
Ensembl chr 8:132,666,411...132,732,669

G

thyroglobulin

susceptibility

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 chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

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 6:148,178,638...148,216,122
Ensembl chr 6:152,886,373...152,922,152

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 chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974

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 chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281

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,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:
mRNA:decreased expression:thyroid gland:

PMID:18701502 PMID:19706751

RGD:9586729 RGD:9587357

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

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 chr16:1,370,460...1,376,775
Ensembl chr16:2,613,096...2,619,204

G

baculoviral IAP repeat containing 3

disease_progression

mRNA:increased expression:thyroid gland (human)

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:thyroid gland (human)

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

baculoviral IAP repeat containing 7

disease_progression

mRNA:increased expression:thyroid gland (human)

NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932

G

CD34 molecule

treatment

NCBI chr 1:183,459,028...183,489,583
Ensembl chr 1:188,272,551...188,297,384

G

CD93 molecule

treatment

NCBI chr20:23,022,834...23,033,440
Ensembl chr20:23,377,777...23,384,789

G

cadherin 5

treatment

NCBI chr16:46,684,545...46,722,740
Ensembl chr16:65,787,370...65,825,360

G

endomucin

treatment

NCBI chr 4:92,813,553...92,942,098
Ensembl chr 4:103,474,788...103,603,125

G

fms related receptor tyrosine kinase 1

treatment

NCBI chr13:9,584,850...9,779,542

G

fms related receptor tyrosine kinase 4

treatment

NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006

G

kinase insert domain receptor

treatment

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

protein tyrosine phosphatase receptor type B

treatment

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

G

ret proto-oncogene

ClinVar Annotator: match by term: Thyroid gland carcinoma

PMID:2904651 PMID:3078962 PMID:7608256 PMID:7824936 PMID:7849700 More...

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

roundabout guidance receptor 4

treatment

NCBI chr11:119,711,023...119,724,701
Ensembl chr11:123,626,063...123,639,837

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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

protein kinase cAMP-dependent type I regulatory subunit alpha

OMIM:188470

NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

G

phosphatase and tensin homolog

OMIM:188470

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

thyroid hormone receptor beta

CTD Direct Evidence: marker/mechanism
OMIM:188470

NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960

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 chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

proteasome 20S subunit beta 9

NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402

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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

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 chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

brain enriched guanylate kinase associated

CTD Direct Evidence: marker/mechanism

NCBI chr14:81,157,642...81,209,503
Ensembl chr14:100,471,969...100,512,416

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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

bromodomain containing 4

mRNA, protein:increased expression:thyroid

NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600

G

chromosome 9 C11orf65 homolog

ClinVar Annotator: match by term: Papillary thyroid carcinoma

PMID:19404735 PMID:20305132 PMID:23555315 PMID:25186627 PMID:25741868 More...

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

G

calcium/calmodulin dependent protein kinase II inhibitor 1

mRNA:increased expression:thyroid gland

NCBI chr 1:19,437,761...19,441,573
Ensembl chr 1:20,479,562...20,482,600

G

catalase

protein:increased activity:plasma:

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

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chromobox 7

mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:
mRNA:decreased expression:thyroid gland (mouse)

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

coiled-coil domain containing 6

CTD Direct Evidence: marker/mechanism

NCBI chr10:56,322,619...56,440,410
Ensembl chr10:58,537,553...58,655,454

G

cyclin D1

mRNA:increased expression:thyroid

NCBI chr11:64,737,006...64,750,353

G

cadherin 1

DNA:hypermethylation:promoter

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

G

catenin beta 1

disease_progression

mRNA:increased expression:thyroid

PMID:28677753 PMID:29498921

RGD:13792558 RGD:13792605

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

iodothyronine deiodinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:82,188,126...82,190,220

G

dynein cytoplasmic 1 heavy chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475

G

lysine methyltransferase 2D

associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

lymphoid enhancer binding factor 1

mRNA:increased expression:thyroid

NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980

G

DNA ligase 4

ClinVar Annotator: match by term: Papillary thyroid carcinoma

NCBI chr13:89,336,434...89,347,418
Ensembl chr13:108,475,820...108,478,555

G

tropomyosin alpha-3 chain

mRNA:increased expression:thyroid

NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894

G

MYC proto-oncogene, bHLH transcription factor

mRNA:increased expression:thyroid

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

plasminogen activator, urokinase

severity

mRNA:increased expression:thyroid gland (human)

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

protein phosphatase 2 regulatory subunit B'gamma

CTD Direct Evidence: marker/mechanism

NCBI chr14:82,383,086...82,549,822
Ensembl chr14:102,206,396...102,372,978

G

RAP1 GTPase activating protein

protein:decreased expression:thyroid gland (human)

NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

G

retinoid X receptor gamma

mRNA:increased expression:thyroid

NCBI chr 1:140,832,717...140,877,046
Ensembl chr 1:144,623,133...144,723,494

G

snail family transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733

G

snail family transcriptional repressor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,341,857...45,345,544
Ensembl chr 8:42,723,971...42,730,904

G

tumor protein p53

susceptibility

associated with Radiation-Induced Neoplasms;DNA:SNPs, haplotypes:exon 4: p.R72P (rs1042522) (human)

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tryptophanyl-tRNA synthetase 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,954,852...80,996,316
Ensembl chr14:100,268,845...100,310,662

G

WD repeat domain 20

CTD Direct Evidence: marker/mechanism

NCBI chr14:82,759,715...82,843,491
Ensembl chr14:102,577,138...102,660,459

G

WD repeat domain 3

susceptibility

DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human)

NCBI chr 1:84,561,424...84,595,602
Ensembl chr 1:119,560,287...119,590,508

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X-ray repair cross complementing 1

susceptibility

DNA:SNP:exon 10: p.R399Q (rs25487) (Human)

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

G

zinc finger E-box binding homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550

G

zinc finger E-box binding homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500

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 chr2A:24,485,068...24,764,135
Ensembl chr2A:24,733,117...24,859,488

G

thyroid hormone receptor alpha

OMIM:188570 | OMIM:274300

NCBI chr17:17,196,459...17,226,263

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 chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960

G

thyrotropin releasing hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:105,739,651...105,780,470
Ensembl chr 8:107,886,593...107,918,825

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 chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104

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 chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566

G

ATP binding cassette subfamily A member 8

CTD Direct Evidence: marker/mechanism

NCBI chr17:62,803,735...62,892,397
Ensembl chr17:68,192,993...68,281,666

G

ATP binding cassette subfamily B member 6 (LAN blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626

G

ATP binding cassette subfamily B member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:142,614,508...142,634,600
Ensembl chr 7:154,768,766...154,787,318

G

ATP binding cassette subfamily C member 10

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,019,469...43,042,441
Ensembl chr 6:44,311,237...44,333,610

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 chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

AKT serine/threonine kinase 2

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

bromodomain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr11:64,737,006...64,750,353

G

cyclin dependent kinase 1

mRNA, protein:increased expression:thyroid gland (rat)

NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434

G

cyclin dependent kinase inhibitor 1A

protein:decreased expression:thyroid gland

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

chitinase 3 like 1

mRNA:increased expression:tumor (human)

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

ceruloplasmin

mRNA:increased expression:thyroid gland

NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

C-X-C motif chemokine ligand 10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

DEAH-box helicase 32 (putative)

ClinVar Annotator: match by term: Neoplasm of the thyroid gland

NCBI chr10:122,397,461...122,457,583
Ensembl chr10:126,661,521...126,706,460

G

ectonucleotide pyrophosphatase/phosphodiesterase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:116,248,587...116,364,966
Ensembl chr 8:118,998,530...119,114,273

G

erythropoietin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

erythropoietin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

golgin A5

reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas

NCBI chr14:73,430,700...73,475,979
Ensembl chr14:92,770,342...92,815,444

G

hyaluronan binding protein 2

NCBI chr10:110,146,311...110,182,871
Ensembl chr10:113,580,321...113,616,810

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

15-hydroxyprostaglandin dehydrogenase

CTD Direct Evidence: therapeutic

NCBI chr 4:166,716,386...166,749,225
Ensembl chr 4:178,949,137...178,982,910

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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

interleukin 12B

NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

KLF transcription factor 5

CTD Direct Evidence: therapeutic

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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

laminin subunit alpha 2

NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337

G

interferon alpha-2

CTD Direct Evidence: therapeutic

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

G

tropomyosin alpha-3 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 1:129,511,914...129,538,703
Ensembl chr 1:133,126,641...133,161,894

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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

multiple inositol-polyphosphate phosphatase 1

DNA:loss of heterozygosity

NCBI chr10:84,230,676...84,280,042
Ensembl chr10:87,737,649...87,787,130

G

mutS homolog 6

CTD Direct Evidence: marker/mechanism

NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

G

nuclear receptor coactivator 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:43,159,014...43,184,558
Ensembl chr10:46,420,952...46,443,223

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 chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

p21 (RAC1) activated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:72,372,577...72,524,817
Ensembl chr11:76,015,998...76,104,197

G

platelet derived growth factor subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:648,722...672,023

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 chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: therapeutic

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

PR/SET domain 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:12,838,201...12,963,735
Ensembl chr 1:13,853,895...13,961,610
Ensembl chr 1:13,853,895...13,961,610

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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin E synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:99,241,257...99,249,022
Ensembl chr 9:127,912,363...127,918,036

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

RAP1 GTPase activating protein

protein:decreased expression:thyroid gland (human)
CTD Direct Evidence: marker/mechanism

PMID:17646383 PMID:22614916

NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405

G

Rap guanine nucleotide exchange factor 3

protein:altered expression:thyroid gland (human)

NCBI chr12:40,974,756...40,999,471
Ensembl chr12:41,848,785...41,873,252

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 chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

retinoid X receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704

G

solute carrier family 5 member 5

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16954431 PMID:17045167

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

G

superoxide dismutase 2

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

transcription factor 7 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:85,186,660...85,363,033
Ensembl chr2A:86,739,417...86,913,905

G

telomerase reverse transcriptase

mRNA:increased expression:plasma
CTD Direct Evidence: marker/mechanism

PMID:12915632 PMID:14654933 PMID:25383969

RGD:2291969 RGD:2291994

Ensembl chr 5:1,300,960...1,338,872

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

translocated promoter region, nuclear basket protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:161,842,037...161,903,567
Ensembl chr 1:165,993,726...166,055,223

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

PMID:8413627 PMID:9062474

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

G

zinc finger RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,890,015...77,980,332
Ensembl chr 5:83,295,040...83,361,615

Thyroid Nodule

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroglobulin

treatment

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

thyroiditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 associated X, apoptosis regulator

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

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 1:176,639,189...176,712,171
Ensembl chr 1:180,941,836...181,014,823

G

class I histocompatibility antigen, Gogo-B*0101 alpha chain

protein:increased expression:peripheral blood cell (human)

NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067

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 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

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 chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736

Weaver syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 6 C7orf33 homolog

ClinVar Annotator: match by term: Weaver syndrome

NCBI chr 7:140,317,024...140,342,184
Ensembl chr 7:152,798,008...152,823,097

G

contactin associated protein 2

ClinVar Annotator: match by term: Weaver syndrome

NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818

G

cullin 1

ClinVar Annotator: match by term: Weaver syndrome

NCBI chr 7:140,428,442...140,531,136
Ensembl chr 7:152,908,303...153,011,254

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 chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

polycomb protein SUZ12

ClinVar Annotator: match by term: Weaver syndrome

PMID:25741868 PMID:30019515

NCBI chr17:24,790,921...24,853,790

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Weaver syndrome

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

Term paths to the root

Path 1
Term	Annotations
disease	17996
disease of anatomical entity	15260
endocrine system disease	5967
thyroid gland disease	524
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 +	120
euthyroid sick syndrome	1
goiter +	75
hyperthyroidism +	99
hyperthyroxinemia +	7
hypothyroidism +	326
thyrocalcitonin secretion disease	0
thyroid crisis	0
thyroid malformation +	3
thyroiditis +	35

paths to the root