Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:thyroid gland disease
go back to main search page
Accession:DOID:50 term browser browse the term
Definition:Pathological processes involving the THYROID GLAND.
Synonyms:exact_synonym: Thyroid Disease;   Thyroid Diseases
 primary_id: MESH:D013959;   RDO:0000834
 xref: ICD10CM:E07.9;   ICD9CM:246.9;   NCI:C26893
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
thyroid gland disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cnst consortin, connexin sorting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr13:97,838,325...97,915,131
Ensembl chr13:97,838,361...97,913,082
JBrowse link
G Dio1 iodothyronine deiodinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17105838 NCBI chr 5:126,894,837...126,911,532
Ensembl chr 5:126,895,286...126,911,520
JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
JBrowse link
G Gulp1 GULP PTB domain containing engulfment adaptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 9:51,263,484...51,538,066
Ensembl chr 9:51,263,622...51,538,072
JBrowse link
G Id2 inhibitor of DNA binding 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 6:44,360,077...44,361,908
Ensembl chr 6:44,348,501...44,363,915
JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 5:154,489,603...154,491,172
Ensembl chr 5:154,489,590...154,491,223
JBrowse link
G Itgb5 integrin subunit beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr11:70,056,500...70,172,164
Ensembl chr11:70,056,500...70,172,372
JBrowse link
G Klf9 Kruppel-like factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 1:240,908,483...240,933,198
Ensembl chr 1:240,908,483...240,933,198
JBrowse link
G Tbx3 T-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr12:42,479,518...42,494,588
Ensembl chr12:42,480,560...42,492,526
JBrowse link
G Tgoln2 trans-golgi network protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 4:100,475,415...100,483,229
Ensembl chr 4:100,475,416...100,483,168
JBrowse link
Abnormal Thyroid Hormone Metabolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Secisbp2 SECIS binding protein 2 ISO ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609698
OMIM
ClinVar
CTD
PMID:16228000 PMID:19602558 PMID:25741868 PMID:29882503 NCBI chr17:13,555,348...13,586,595
Ensembl chr17:13,555,349...13,586,554
JBrowse link
Autoimmune Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE ClinVar PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
autoimmune thyroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bank1 B-cell scaffold protein with ankyrin repeats 1 onset ISO DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3' utr:6230G>A (rs3087243) (human)
ClinVar Annotator: match by term: Hashimoto's thyroiditis
DNA:SNP: :-318C>T(rs11571302)(human)
ClinVar PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532, PMID:16352685, PMID:14986169, PMID:9398726 RGD:2302003, RGD:7421515, RGD:1300386 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb1 gap junction protein, beta 1 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Ifng interferon gamma IEP mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il4 interleukin 4 IMP RGD PMID:9892610 RGD:8142396 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 severity ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) RGD PMID:19301205 RGD:2307256 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:10404822 RGD:1641847 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:
associated with hepatitis C;DNA:SNP:exon:
RGD PMID:22360648, PMID:19703233 RGD:8693703, RGD:14696815 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22374238 RGD:6484667 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12948297 RGD:2301816 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) RGD PMID:20825955 RGD:5147571 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:12126634 RGD:5147805 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:21683551, PMID:12126634, PMID:20825955 RGD:5147557, RGD:5147805, RGD:5147571 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tg thyroglobulin susceptibility ISO ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608175
DNA:SNPs, haplotype:exon:multiple
ClinVar
OMIM
CTD
PMID:10403171 PMID:12915634 PMID:14657345 PMID:15579800 PMID:19339519 PMID:21757724 PMID:24033266 PMID:25741868 PMID:28942902 PMID:29385629 PMID:29590070, PMID:21683551, PMID:14657345 RGD:5147557, RGD:8548629 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Zfat zinc finger and AT hook domain containing susceptibility ISO ClinVar Annotator: match by OMIM:608175
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11440990 PMID:15294872 NCBI chr 7:109,037,777...109,207,511
Ensembl chr 7:109,037,845...109,205,354
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
ClinVar Annotator: match by term: Bamforth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:241850
ClinVar Annotator: match by synonym: Hypothyroidism, thyroidal, with spiky hair and cleft palate
OMIM
ClinVar
CTD
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:25381600 PMID:25741868 PMID:28492532 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
ClinVar Annotator: match by OMIM:610978
OMIM
ClinVar
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:18788921 PMID:19176457 PMID:19336474 PMID:24555207 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29538355, PMID:26839702, PMID:18788921, PMID:23379327, PMID:23911641 RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
Chronic Thyroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma susceptibility ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16970687 RGD:8157599 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
Combined Pituitary Hormone Deficiency, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:26467025 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by OMIM:613038
OMIM
ClinVar
PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 PMID:2634610 PMID:7670563 PMID:7721104 PMID:7833912 PMID:8768831 PMID:9392392 PMID:9588494 PMID:9626142 PMID:11222742 PMID:11297581 PMID:11924936 PMID:12629113 PMID:15928241 PMID:16968807 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by OMIM:262700
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
OMIM
ClinVar
PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23029363 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex, subunit 5 IEP protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chr13:70,174,970...70,183,879
Ensembl chr13:70,174,936...70,183,879
JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d IEP protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr10:103,967,340...103,972,552
Ensembl chr10:103,967,312...103,972,668
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IDA mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 PMID:19789206 PMID:20972728 PMID:21565790 PMID:24033266 PMID:24423310 PMID:25741868 PMID:26990548 PMID:27557340 PMID:27821020 PMID:28492532 PMID:28666341 PMID:30240412, PMID:12110737 RGD:734905 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:28492532 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23079472 RGD:10395304 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Foxe1 forkhead box E1 ISS MouseDO NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr13:35,436,532...35,442,222
Ensembl chr13:35,436,532...35,442,222
JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 1:40,086,513...40,100,966
Ensembl chr 1:40,086,470...40,101,840
JBrowse link
G Nefh neurofilament heavy chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Ngfr nerve growth factor receptor treatment IEP RGD PMID:23312094 RGD:10414076 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Pax8 paired box 8 ISO
ISS
nongoitrous congenital hypothyroidism 2, OMIM:218700
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
MouseDO
PMID:16763387 PMID:25146893 PMID:26362610, PMID:9590296 RGD:1600298 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Runx2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chr 5:27,986,656...28,131,294
Ensembl chr 5:27,986,663...28,177,340
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar PMID:3998954 PMID:10487695, PMID:9171822 RGD:1624273 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Tg thyroglobulin ISS
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism MouseDO
ClinVar
PMID:8325944 PMID:9588493 PMID:10404833 PMID:11484898 PMID:14764776 PMID:15769978 PMID:16403815 PMID:17532758 PMID:20410234 PMID:21128992 PMID:23164529 PMID:25741868 PMID:28492532 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tpo thyroid peroxidase ISO total iodide organification defect, OMIM:274500
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868, PMID:7550241 RGD:1599648 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD
ClinVar
PMID:11442002 PMID:12629076 PMID:15693879 PMID:17526952 PMID:19158199 PMID:19506388 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22405933 PMID:22876533 PMID:23926367 PMID:24033266 PMID:24895636 PMID:25741868 PMID:26709262 PMID:27084275 PMID:27637299 PMID:28444304 PMID:28455095 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
Congenital Nongoitrous Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520 PMID:9385128 PMID:10037069 PMID:17062880 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520 PMID:9385128 PMID:10037069 PMID:17062880 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:17062880 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar
OMIM
PMID:1955520 PMID:7528344 PMID:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9329388 PMID:9385128 PMID:9589634 PMID:9589691 PMID:10037069 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16756469 PMID:17062880 PMID:17526952 PMID:17953807 PMID:18379122 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19506388 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21586576 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22359649 PMID:22405933 PMID:22876533 PMID:23356285 PMID:23535966 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27578510 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
ClinVar Annotator: match by term: Thyroid, ectopic
OMIM
ClinVar
PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 PMID:12116225 PMID:15356023 PMID:15718293 PMID:17437516 PMID:17980011 PMID:20302910 PMID:23647375 PMID:25741868 PMID:28060725 PMID:28492532 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Pituitary cretinism
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
OMIM
ClinVar
PMID:1971148 PMID:2792087 PMID:8636437 PMID:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:24423284 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27387040 PMID:28492532 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 OMIM
ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809 PMID:25741868 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Thra thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 OMIM
ClinVar
PMID:11075809 PMID:22168587 PMID:22494134 PMID:25326635 PMID:25670821 PMID:25741868 PMID:28492532 NCBI chr10:86,657,285...86,684,935
Ensembl chr10:86,657,285...86,684,933
JBrowse link
congenital nongoitrous hypothyroidism 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trhr thyrotropin releasing hormone receptor ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 OMIM
ClinVar
PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
congenital nongoitrous hypothyroidism 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1x transducin (beta)-like 1 X-linked ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 OMIM
ClinVar
PMID:25741868 PMID:27603907 PMID:30591955 NCBI chr  X:44,959,883...44,988,551
Ensembl chr  X:44,830,849...44,988,551
JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9
OMIM
ClinVar
PMID:25741868 PMID:30061370 NCBI chr  X:113,003,824...113,018,088 JBrowse link
dystransthyretinemic hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttr transthyretin ISO ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2
ClinVar Annotator: match by term: Dystransthyretinemic euthyroidal hyperthyroxinemia
OMIM
ClinVar
PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2590199 PMID:2646319 PMID:3030336 PMID:3229002 PMID:3627183 PMID:3934968 PMID:7868124 PMID:8698351 PMID:8784093 PMID:9017939 PMID:10762172 PMID:10842715 PMID:11385707 PMID:11752419 PMID:11752443 PMID:12050338 PMID:12217248 PMID:12874413 PMID:12874414 PMID:14569203 PMID:14640030 PMID:15123043 PMID:15299606 PMID:15820680 PMID:16011990 PMID:16432141 PMID:16631014 PMID:16631015 PMID:17251346 PMID:17503405 PMID:18276611 PMID:18318779 PMID:18830126 PMID:19781421 PMID:20301373 PMID:20435197 PMID:21600538 PMID:22083004 PMID:22184092 PMID:22745357 PMID:22877808 PMID:22995991 PMID:23414091 PMID:23713495 PMID:23716704 PMID:24033266 PMID:24073013 PMID:24131106 PMID:24184229 PMID:24474780 PMID:24517438 PMID:24633258 PMID:24818650 PMID:24945718 PMID:25225131 PMID:25395306 PMID:25551524 PMID:25741868 PMID:25819286 PMID:25846356 PMID:26123279 PMID:26428663 PMID:26467025 PMID:26537620 PMID:27188913 PMID:27386769 PMID:27838833 PMID:28492532 PMID:28798025 PMID:30953182 PMID:31135624 PMID:31821430 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
euthyroid sick syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment IEP associated with congestive heart failure RGD PMID:27737323 RGD:13782084 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
Familial Dysalbuminemic Hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin severity ISO ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic
ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1
ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:683332 PMID:1859851 PMID:1946412 PMID:2104980 PMID:2226433 PMID:2247440 PMID:2304452 PMID:2339130 PMID:2901102 PMID:3338164 PMID:3479777 PMID:3780972 PMID:5926635 PMID:8022807 PMID:8048949 PMID:8064810 PMID:9329347 PMID:9589637 PMID:11743520 PMID:12743361 PMID:15251607 PMID:18029235 PMID:19336879 PMID:22230555 PMID:25741868 PMID:28492532 PMID:29133890, PMID:3129213, PMID:19844712 RGD:11035290, RGD:11035292 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
Familial Gestational Hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hyperthyroidism, familial gestational OMIM
ClinVar
PMID:9854118 PMID:25741868 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar PMID:10330344 PMID:10443680 PMID:11139246 PMID:11159935 PMID:11719521 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Prlr prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 2:60,131,410...60,325,686
Ensembl chr 2:60,131,776...60,325,692
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: MEN2A and FMTC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 PMID:7633441 PMID:7647787 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849720 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7915165 PMID:7915166 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8625130 PMID:8675603 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8880581 PMID:8918855 PMID:9003111 PMID:9090527 PMID:9111992 PMID:9111993 PMID:9146685 PMID:9174404 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9467562 PMID:9498388 PMID:9506724 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9681852 PMID:9727738 PMID:9745455 PMID:9760196 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10235148 PMID:10323403 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10549772 PMID:10646792 PMID:10679286 PMID:10777380 PMID:10790203 PMID:10876191 PMID:10982477 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11436122 PMID:11454140 PMID:11524247 PMID:11562352 PMID:11589684 PMID:11739416 PMID:11900218 PMID:11932300 PMID:11935126 PMID:11939755 PMID:12000816 PMID:12116277 PMID:12150334 PMID:12193298 PMID:12205548 PMID:12409662 PMID:12490841 PMID:12566528 PMID:12604374 PMID:12686527 PMID:12694233 PMID:12864791 PMID:14517954 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14633923 PMID:14715928 PMID:14718397 PMID:15164440 PMID:15184865 PMID:15240641 PMID:15277225 PMID:15281979 PMID:15292360 PMID:15452453 PMID:15531714 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15771139 PMID:15855933 PMID:15858153 PMID:15870131 PMID:16118333 PMID:16314641 PMID:16343097 PMID:16388093 PMID:16441254 PMID:16469774 PMID:16507829 PMID:16532227 PMID:16649977 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16813623 PMID:16865646 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17021738 PMID:17047083 PMID:17097365 PMID:17102091 PMID:17108110 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17483988 PMID:17540634 PMID:17610518 PMID:17704047 PMID:17848262 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:18805915 PMID:19041016 PMID:19138318 PMID:19169500 PMID:19201392 PMID:19240193 PMID:19255327 PMID:19258401 PMID:19469690 PMID:19472011 PMID:19826964 PMID:19906784 PMID:20065189 PMID:20080836 PMID:20087666 PMID:20103606 PMID:20368568 PMID:20442138 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20739875 PMID:20833330 PMID:20847059 PMID:20979234 PMID:20981092 PMID:21253810 PMID:21254918 PMID:21311890 PMID:21422799 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21626080 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22403753 PMID:22584710 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22965292 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23084198 PMID:23210566 PMID:23295303 PMID:23461807 PMID:23527089 PMID:23660872 PMID:23723040 PMID:23745650 PMID:23756355 PMID:24033266 PMID:24064755 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24449023 PMID:24569963 PMID:24616773 PMID:24617864 PMID:24684035 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24805091 PMID:24845513 PMID:25157968 PMID:25319874 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25628771 PMID:25629635 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25767701 PMID:25810047 PMID:25887804 PMID:25950813 PMID:26046350 PMID:26084817 PMID:26230854 PMID:26247112 PMID:26269449 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26678667 PMID:26920351 PMID:27153395 PMID:27539324 PMID:27673361 PMID:27807060 PMID:27809725 PMID:27884173 PMID:27994876 PMID:28166811 PMID:28323957 PMID:28492532 PMID:28647780 PMID:28946813 PMID:28951487 PMID:29026273 PMID:29097883 PMID:29386230 PMID:29408964 PMID:29549836 PMID:29625052 PMID:29656518 PMID:29684080 PMID:30392857 PMID:30644554 PMID:30877234 PMID:30927507 PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
familial thyroid dyshormonogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16322276 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 PMID:25248169 PMID:25741868 PMID:26709262 PMID:26990548 PMID:27821020 PMID:28492532 PMID:28666341 PMID:30240412 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
follicular adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Thyroid adenoma, follicular ClinVar PMID:11297621 NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
JBrowse link
Follicular Thyroid Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 ClinVar PMID:12068308 PMID:12198537 PMID:12960123 PMID:14679157 PMID:15035987 PMID:16187918 PMID:21639808 PMID:22048237 PMID:22663011 PMID:22972589 PMID:24033266 PMID:25157968 PMID:26619011 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cbx7 chromobox 7 ISO protein:decreased expression:thyroid gland: RGD PMID:18701502 RGD:9587357 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2
ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2
OMIM
ClinVar
PMID:12727991 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:19855393 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2
ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2
ClinVar PMID:12727991 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:19855393 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 OMIM
ClinVar
PMID:11297621 NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:12460918 PMID:12727991 PMID:14508525 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18948947 PMID:19075190 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:25157968 PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Pax8 paired box 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15785241 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15785241 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 ClinVar NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 OMIM
ClinVar
PMID:23539728 PMID:25741868 NCBI chr 7:63,968,915...64,251,449
Ensembl chr 7:63,973,279...64,251,110
JBrowse link
Generalized Thyroid Hormone Resistance, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant
ClinVar Annotator: match by OMIM:188570
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1159077 PMID:1314846 PMID:1324420 PMID:1358935 PMID:1400869 PMID:1563081 PMID:1587388 PMID:1619012 PMID:1653889 PMID:1661299 PMID:1682340 PMID:1846005 PMID:1973914 PMID:1991834 PMID:2153155 PMID:2510172 PMID:2555064 PMID:2879243 PMID:3571851 PMID:7200565 PMID:7616549 PMID:7833659 PMID:8013151 PMID:8040303 PMID:8175986 PMID:8384535 PMID:8496318 PMID:8514853 PMID:8535442 PMID:8563471 PMID:8664910 PMID:8674808 PMID:8875752 PMID:8889584 PMID:8958790 PMID:9086567 PMID:9092799 PMID:9100577 PMID:9141558 PMID:9605924 PMID:9707435 PMID:9804773 PMID:10487671 PMID:10918302 PMID:11518118 PMID:11701667 PMID:11734632 PMID:15598685 PMID:15771554 PMID:16099238 PMID:16804041 PMID:18844476 PMID:19268523 PMID:19378427 PMID:20050372 PMID:20237409 PMID:21340159 PMID:21622532 PMID:21703645 PMID:21871106 PMID:22319036 PMID:22551329 PMID:23457315 PMID:23633200 PMID:23926384 PMID:24174637 PMID:24393243 PMID:25040256 PMID:25135573 PMID:25502991 PMID:25741868 PMID:25867808 PMID:25905418 PMID:26041374 PMID:26273722 PMID:26425626 PMID:26467025 PMID:28492532 PMID:30672388 PMID:30976996 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
Generalized Thyroid Hormone Resistance, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive
ClinVar Annotator: match by OMIM:274300
OMIM
ClinVar
PMID:1653889 PMID:1682340 PMID:1991834 PMID:4163616 PMID:8013151 PMID:22319036 PMID:24393243 PMID:25135573 PMID:26467025 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16306076 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15279074 PMID:16053392 PMID:17322586, PMID:12974744 RGD:1599217 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
G Tek TEK receptor tyrosine kinase IEP mRNA:increased expression:thyroid RGD PMID:11397875 RGD:1601510 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
G Tg thyroglobulin susceptibility ISO associated with Hypothyroidism;DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD PMID:8094490 PMID:24582622, PMID:1752952 RGD:1600141 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tpo thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12564727 PMID:14751036 PMID:17547680 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
Graves Ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase treatment ISO protein:decreased activity:blood:
protein:increased activity:plasma:
RGD PMID:20394549, PMID:15158621 RGD:9071200, RGD:9086875 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 severity
no_association
ISO associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)
protein:increased expression:serum:
RGD PMID:16893393, PMID:19734241, PMID:22663548 RGD:7421511, RGD:7421523, RGD:7421521 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum
RGD PMID:21067483, PMID:11753760 RGD:7364859, RGD:7365083 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity
susceptibility
ISO protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human)
RGD PMID:12186498, PMID:19702713 RGD:7387296, RGD:8549808 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il23r interleukin 23 receptor no_association
susceptibility
ISO DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)
RGD PMID:22663548, PMID:18073300 RGD:7421521, RGD:8549554 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Kif1a kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) RGD PMID:17608818 RGD:7829763 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Serpine1 serpin family E member 1 severity ISO associated with Graves Disease;protein:increased expression:tears (human) RGD PMID:22385289 RGD:8547756 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-863C>A (human)
RGD PMID:15219383, PMID:16191343, PMID:8444271 RGD:7365073, RGD:12904066, RGD:7794734 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tshr thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:31705858, PMID:22673349, PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
Graves' disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing severity ISO protein:increased expression:serum
associated with thyroid diseases; protein:increased expression:serum
RGD PMID:18997483, PMID:20583542 RGD:5686818, RGD:5686857 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) RGD PMID:17143563 RGD:8548467 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr20:21,713,900...21,881,193
Ensembl chr20:21,564,975...21,880,715
JBrowse link
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:107,592,336...107,617,189
Ensembl chr14:107,592,336...107,617,161
JBrowse link
G Btnl2 butyrophilin-like 2 onset ISO DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
JBrowse link
G C4a complement C4A ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:2,651,599...2,678,183
Ensembl chr20:2,651,599...2,678,141
JBrowse link
G C4b complement C4B (Chido blood group) ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:4,302,344...4,316,752
Ensembl chr20:4,302,344...4,316,715
JBrowse link
G Cat catalase treatment ISO protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cd40 CD40 molecule onset
no_association
ISO DNA:SNP:5' utr:-1C>T (human) RGD PMID:12593727, PMID:18755875, PMID:15307939 RGD:8547766, RGD:8547778, RGD:8547769 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:8875745 RGD:8547747 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 no_association
susceptibility
ISO DNA:SNP:promoter:-318C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:49G>A(human)
DNA:SNP: :rs231779(human)
DNA:SNP: :-318C>T(rs11571302)(human)
DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human)
DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human)
CTD PMID:19731979 PMID:21841780 PMID:23104008, PMID:9861324, PMID:10404810, PMID:20352109, PMID:14986169, PMID:15785242, PMID:12780750, PMID:10369864, PMID:9672157 RGD:2302000, RGD:11352245, RGD:7421517, RGD:7421515, RGD:7421507, RGD:7421505, RGD:1300388, RGD:2302001 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dnmt1 DNA methyltransferase 1 treatment ISO DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Esr2 estrogen receptor 2 susceptibility
no_association
ISO DNA:snp:intron:IVS8G>A (rs4986938) (human)
DNA:repeat
RGD PMID:17941906, PMID:11180758 RGD:8693348, RGD:10045850 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISO RGD PMID:15497458 RGD:1580387 NCBI chr 6:29,975,863...29,987,252
Ensembl chr 6:29,977,797...29,987,451
JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human)
CTD Direct Evidence: marker/mechanism
DNA:repeats:intron
CTD
OMIM
PMID:12050214, PMID:16868893, PMID:12050214 RGD:5509883, RGD:5509886 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Icam1 intercellular adhesion molecule 1 no_association
onset
ISO protein:increased expression:blood, lymphocyte
DNA:SNP: :p.K469E (rs5498) (human)
DNA:polymorphism: :c.721G>A (human)
RGD PMID:12357047, PMID:17873320, PMID:14557478 RGD:8158121, RGD:8547702, RGD:8158124 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Ifng interferon gamma susceptibility
treatment
ISO DNA:microsatellite repeats:intron:
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:+874A>T(human)
DNA:repeats:intron:
protein:increased expression:serum:
CTD PMID:33132244, PMID:9848715, PMID:15544617, PMID:16970687, PMID:15068623, PMID:2125901 RGD:8142372, RGD:8157604, RGD:8157599, RGD:8142393, RGD:8142373 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: increased expression: blood: T cells and B cells RGD PMID:18832736 RGD:5686433 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP: :rs1800896 (human)
DNA:SNPs:promoter:multiple
protein:increased expression:serum
DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD PMID:21424183, PMID:15497451, PMID:19250272, PMID:19882211 RGD:7364858, RGD:7365074, RGD:7365026, RGD:7364862 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 disease_progression
susceptibility
ISO DNA:SNP:promoter:-1112C>T (rs1800925) (human)
DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human)
RGD PMID:21235536, PMID:15483090 RGD:7829719, RGD:8549544 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snp:intron:IVS1+18G>A (rs3819025) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:33132244, PMID:22816799 RGD:9068423 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 no_association ISO protein:increased expression:serum
DNA:SNPs:promoter, exon:multiple
RGD PMID:12689659, PMID:16571086 RGD:8655878, RGD:8655916 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNP:promoter:-511C>T (human) RGD PMID:16025481, PMID:2674184 RGD:7401177, RGD:7401207 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2279527 RGD:8662947 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il23r interleukin 23 receptor susceptibility
no_association
ISO DNA:SNP: :rs7530511(human)
DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)
RGD PMID:18073300, PMID:19021011 RGD:8549554, RGD:8549564 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 disease_progression ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD PMID:16372246, PMID:21235536, PMID:12818091 RGD:7829719, RGD:7829750 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD PMID:16372246, PMID:12818091 RGD:7829750 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:23109646 RGD:8693341 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:1346144, PMID:7928443 RGD:8548778, RGD:8548790 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:21465496 RGD:8657376 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pdcd1 programmed cell death 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: SNP: cds: C1858T
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human)
DNA:SNP, haplotype:promoter:-1123G>C (human)
CTD PMID:21190368, PMID:15504986, PMID:17608818, PMID:18687223 RGD:6484538, RGD:7829763, RGD:7829738 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Rnaset2 ribonuclease T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms::HLA-DQA1*0501; RGD PMID:8706297 RGD:8547558 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human)
DNA:polymorphism:cds:HLA-DQB1*0602 (human)
RGD PMID:10468909, PMID:11272094 RGD:7421572, RGD:7483568 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility
onset
ISO DNA:polymorphisms:cds:HLA-B*46 (human)
DNA:polymorphisms:cds:HLA-B39 (human)
DNA:polymorphisms:cds:HLA-B8 (human)
DNA:polymorphisms, haplotype:cds:HLA-B8 (human)
DNA:polymorphisms, haplotype:cds:HLA-B*5801 (human)
RGD PMID:23329888, PMID:8894996, PMID:2401095, PMID:8096501, PMID:12694583 RGD:7365094, RGD:7365110, RGD:7365118, RGD:7365112, RGD:7365098
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*12:02, HLA-DRB1*16:02(human)
DNA:polymorphism: :HLA-DRB1*0301(human)
DNA:polymorphism: :HLA-DRB1*03(human)
RGD PMID:21307958, PMID:11263477, PMID:15219383 RGD:7365065, RGD:7365089, RGD:7365073 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpine1 serpin family E member 1 treatment ISO protein:increased expression:tears (human) RGD PMID:11980614, PMID:22385289 RGD:8547709, RGD:8547756 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tg thyroglobulin treatment
no_association
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
DNA:SNP:exon
DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human)
DNA:SNPs:exon:multiple
CTD PMID:33132244, PMID:14636875, PMID:95586, PMID:17550957, PMID:22662162, PMID:18656705 RGD:8548606, RGD:8548645, RGD:8548644, RGD:8548643, RGD:8548630 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human)
DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human)
DNA:polymorphism: :-863A>C
RGD PMID:15219383, PMID:19732761, PMID:17348243 RGD:7365073, RGD:7394807, RGD:7394790 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tpo thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
G Tshr thyroid stimulating hormone receptor no_association
treatment
ISO DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human)
DNA:polymorphism: :pD727E (human)
DNA:SNPs: :multiple
DNA:SNPs:intron:rs179247, rs12101255 (human)
CTD
OMIM
PMID:1955520 PMID:21841780, PMID:21642385, PMID:9528975, PMID:21155717, PMID:24518168, PMID:7828357, PMID:11887032, PMID:23538203, PMID:19244275, PMID:21124799 RGD:8548654, RGD:8548669, RGD:8548665, RGD:8548664, RGD:8548663, RGD:8548661, RGD:8548657, RGD:8548656, RGD:8548655 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Tshr-ps1 thyroid stimulating hormone receptor, pseudogene 1 ISO RGD PMID:23538203 RGD:8548657 NCBI chr 4:93,447,412...93,448,194 JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs: :rs731236, rs7975232 (human)
DNA:SNPs: :rs1544410, rs10735810 (human)
DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs2228570 (human)
DNA:SNPs: :rs1544410, rs7975232 (human)
DNA:polymorphisms, haplotype
GAD
RGD
PMID:15118671, PMID:16279845, PMID:16279845, PMID:17506475, PMID:11134121, PMID:11134121, PMID:16100768 RGD:1331525, RGD:8158053, RGD:8158053, RGD:8157632, RGD:8157628, RGD:8157628, RGD:8157624 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) RGD PMID:22771446 RGD:7483621 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Hashimoto Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G Cat catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO ClinVar Annotator: match by term: Hashimoto Disease
DNA:SNP:cds:+49A/G (rs231775)(human)
OMIM
ClinVar
PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532, PMID:18752454 RGD:7421513 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) RGD PMID:15242568 RGD:8662824 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma severity ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16372246, PMID:21235536 RGD:7829719 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms (human)
associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human)
RGD PMID:19254248, PMID:8157715 RGD:5147613, RGD:7483569 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tg thyroglobulin no_association ISO
IDA
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:multiple
CTD PMID:30373627, PMID:14636875, PMID:3052944, PMID:18656705, PMID:21559421 RGD:8548606, RGD:8548647, RGD:8548630, RGD:8548607 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
Hyperfunctioning Thyroid Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning ClinVar PMID:7800007 PMID:8413627 PMID:9253356 PMID:9294132 PMID:9360556 PMID:9398746 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing IEP RGD PMID:17161219 RGD:1599133 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:9022675 RGD:2306952 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Anxa2 annexin A2 IEP protein:decreased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Anxa5 annexin A5 IEP protein:decreased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apoa1 apolipoprotein A1 IDA RGD PMID:1466661 RGD:1599158 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa2 apolipoprotein A2 IEP RGD PMID:1466661 RGD:1599158 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apoc3 apolipoprotein C3 IDA RGD PMID:8429259 RGD:1599190 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12621104 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Bdh1 3-hydroxybutyrate dehydrogenase 1 IEP protein:decreased activity:liver, mitochondrion (rat) RGD PMID:3422549 RGD:4105460 NCBI chr11:72,577,547...72,619,435
Ensembl chr11:72,578,533...72,614,176
JBrowse link
G Cab39 calcium binding protein 39 IEP mRNA,protein:increased expression:muscle: RGD PMID:18669938 RGD:10059691 NCBI chr 9:92,834,327...92,895,778
Ensembl chr 9:92,834,357...92,895,778
JBrowse link
G Cartpt CART prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12395121 NCBI chr 2:30,125,249...30,127,408
Ensembl chr 2:30,125,249...30,127,269
JBrowse link
G Cat catalase IEP
ISO
mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:23391542, PMID:19914224 RGD:9068475 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:16756463 RGD:8547761 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cp ceruloplasmin IEP protein:increased expression:serum RGD PMID:18210749 RGD:2314689 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:extensor digitorum longus (rat) RGD PMID:19777444 RGD:2315547 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Gpx1 glutathione peroxidase 1 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19914224, PMID:19914224 RGD:9068475 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19914224, PMID:25242845 RGD:10401891 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23623788 RGD:10755742 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:increased expression:myocardium RGD PMID:17447016 RGD:2311524 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il10 interleukin 10 ISO
IEP
associated with Graves Disease RGD PMID:21474590, PMID:24534949 RGD:7364857, RGD:11049472 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mcm7 minichromosome maintenance complex component 7 IEP RGD PMID:17394799 RGD:2317698 NCBI chr12:19,306,615...19,313,877
Ensembl chr12:19,306,607...19,314,016
JBrowse link
G Mthfr methylenetetrahydrofolate reductase IEP protein:increased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IEP RGD PMID:1315530 RGD:10448989 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 IEP mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat)
protein:decreased expression:paraventricular nucleus, median eminence (rat)
RGD PMID:15291740, PMID:16497799 RGD:2308889, RGD:1601276 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14678291 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:increased expression:soleus muscle (rat) RGD PMID:18669938 RGD:10059691 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human) RGD PMID:17194971 RGD:7421571 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Serpina7 serpin family A member 7 IEP protein:decreased expression:serum RGD PMID:2505856 RGD:1600139 NCBI chr  X:110,226,565...110,232,202
Ensembl chr  X:110,226,572...110,232,179
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:14512089 RGD:8547758 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc34a1 solute carrier family 34 member 1 IEP protein:increased expression:renal cortex, brush border membrane (rat) RGD PMID:10098486 RGD:7243131 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP protein:increased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19914224, PMID:22476324 RGD:8655984 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19914224 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Stk11 serine/threonine kinase 11 IEP mRNA,protein:increased expression:muscle: RGD PMID:18669938 RGD:10059691 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7800007 PMID:8413627 PMID:8964822 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Ucp3 uncoupling protein 3 IEP protein:increased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA:increased expression:hepatocyte RGD PMID:14620509 RGD:1600445 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Vim vimentin IEP protein:increased expression, hyperphosphorylation:testis RGD PMID:17306450 RGD:6480446 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin susceptibility ISO RGD PMID:8048949 RGD:1599027 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Dio1 iodothyronine deiodinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3346351 NCBI chr 5:126,894,837...126,911,532
Ensembl chr 5:126,895,286...126,911,520
JBrowse link
Hyperthyroxinemia due to Decreased Peripheral Conversion of T4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dio1 iodothyronine deiodinase 1 ISO OMIM NCBI chr 5:126,894,837...126,911,532
Ensembl chr 5:126,895,286...126,911,520
JBrowse link
hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd2 ATP binding cassette subfamily D member 2 treatment ISO RGD PMID:28200172 RGD:13673918 NCBI chr 7:132,294,564...132,343,169
Ensembl chr 7:132,294,562...132,343,169
JBrowse link
G Adrb2 adrenoceptor beta 2 IEP mRNA,protein:decreased expression:brown adipose tissue, heart: RGD PMID:1651697 RGD:8548533 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alad aminolevulinate dehydratase IEP protein:decreased activity:blood (rat) RGD PMID:17720948 RGD:4144163 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:9022675 RGD:2306952 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Anxa2 annexin A2 IEP protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Anxa5 annexin A5 IEP protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apoa5 apolipoprotein A5 IEP protein:decreased expression:liver RGD PMID:15941710 RGD:1601661 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc3 apolipoprotein C3 IDA RGD PMID:8429259 RGD:1599190 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E IEP protein:increased expression:plasma, high-density lipoprotein particle (rat) RGD PMID:6816881 RGD:12904658 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) IEP RGD PMID:12595491 RGD:704374 NCBI chr 5:57,423,735...57,429,252
Ensembl chr 5:57,423,734...57,429,245
JBrowse link
G Arsa arylsulfatase A IDA RGD PMID:7901316 RGD:1599223 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IEP mRNA:decreased expression:heart left ventricle RGD PMID:21217071 RGD:6904140 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP treatment IEP protein:decreased expression:liver, mitochondrion (rat) RGD PMID:19878644, PMID:9733093 RGD:13830874, RGD:13838730 NCBI chr11:32,081,606...32,087,918
Ensembl chr11:32,081,574...32,088,002
JBrowse link
G Bad BCL2-associated agonist of cell death IEP RGD PMID:22513421 RGD:10053713 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:20600205 RGD:4891132 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cat catalase treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cav1 caveolin 1 IEP protein:increased expression:cerebellum RGD PMID:21611807 RGD:6784532 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 IEP RGD PMID:22987596 RGD:13782376 NCBI chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP mRNA:increased expression:heart ventricle RGD PMID:8745212 RGD:7257542 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col2a1 collagen type II alpha 1 chain treatment IDA RGD PMID:17310101 RGD:8661259 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 IEP mRNA:increased expression:ovary (rat) RGD PMID:20149258 RGD:4890368 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Dcx doublecortin IEP protein:altered expression:cerebellum RGD PMID:22595232 RGD:12904757 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 IEP mRNA, protein:increased expression:thyroid gland RGD PMID:11694350 RGD:2316251 NCBI chr15:43,475,640...43,581,725
Ensembl chr15:43,477,629...43,542,939
JBrowse link
G Elavl4 ELAV like RNA binding protein 4 IEP mRNA,protein:increased expression:brain: RGD PMID:12859688 RGD:1579855 NCBI chr 5:130,001,387...130,144,557
Ensembl chr 5:130,001,372...130,085,838
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP mRNA,protein:increased expression,increased activity:hippocampus: RGD PMID:15811553 RGD:9685476 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
G F7 coagulation factor VII IEP protein:increased expression:plasma (rat) RGD PMID:989968 RGD:2312322 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Foxp3 forkhead box P3 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:increased expression:plasma (rat) RGD PMID:9030821 RGD:2312549 NCBI chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:31735425 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IDA RGD PMID:22733496 RGD:7257534 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP mRNA:increased expression:heart (rat) RGD PMID:19728039 RGD:5685027 NCBI chr12:49,626,871...49,750,389
Ensembl chr12:49,626,871...49,746,272
JBrowse link
G Gsn gelsolin IEP Protein:increased expression:cochlea RGD PMID:2848627 RGD:1599872 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527
G Ifng interferon gamma treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1380443 RGD:12910458 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 IEP RGD PMID:11834454 RGD:1626512 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:24534949, PMID:29896255 RGD:11049472, RGD:38549578 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G L1cam L1 cell adhesion molecule IEP mRNA,protein:increased expression: cerebral cortex: RGD PMID:11085884 RGD:11570514 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lipc lipase C, hepatic type IDA protein:reduced expression:plasma (rat)
mRNA, protein:reduced expression:hepatocyte, extracellular space (rat)
RGD PMID:12841343, PMID:9106496 RGD:2308783, RGD:2308790 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Map1a microtubule-associated protein 1A IEP protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 3:113,251,918...113,272,193
Ensembl chr 3:113,251,778...113,272,186
JBrowse link
G Map1b microtubule-associated protein 1B IEP protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
JBrowse link
G Mbp myelin basic protein IEP RGD PMID:11592121 RGD:27226698 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein IEP RGD PMID:11592121 RGD:27226698 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Mstn myostatin IEP RGD PMID:18997488 RGD:2303545 NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IEP mRNA:decreased expression:brain, heart RGD PMID:7763274 RGD:2302314 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt3 metallothionein 3 IEP mRNA:increased expression:brain RGD PMID:10407136 RGD:9685800 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Mthfr methylenetetrahydrofolate reductase IEP protein:decreased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myh6 myosin heavy chain 6 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 IEP RGD PMID:2950137, PMID:1703406 RGD:12792943, RGD:12798563 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:increased expression:hippocampus RGD PMID:20412599 RGD:2326028 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Ncoa1 nuclear receptor coactivator 1 IEP mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr 6:28,677,563...28,931,844
Ensembl chr 6:28,677,540...28,931,843
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 IEP mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Nefh neurofilament heavy chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Ngf nerve growth factor IEP mRNA:decreased expression:hypothalamus RGD PMID:19233274 RGD:2303791 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos2 nitric oxide synthase 2 IEP mRNA, protein:altered expression:cerebral cortex RGD PMID:21196918 RGD:4891143 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased activity:ovary (rat) RGD PMID:29214681 RGD:13504721 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IEP RGD PMID:1315530 RGD:10448989 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Nrgn neurogranin treatment IEP protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn RGD PMID:20041985, PMID:16004982 RGD:9835423, RGD:9835430 NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
JBrowse link
G Otof otoferlin IEP mRNA, protein:decreased expression:cochlea (rat) RGD PMID:17376979 RGD:9491752 NCBI chr 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase IEP mRNA:increased stability:pituitary gland RGD PMID:8940376 RGD:2302427 NCBI chr 9:111,028,543...111,177,588
Ensembl chr 9:111,028,575...111,177,602
JBrowse link
G Pcna proliferating cell nuclear antigen IEP RGD PMID:21273639 RGD:10448988 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 IEP mRNA:increased expression:hypothalamus, hippocampus, cortex (rat)
protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat)
RGD PMID:15291740, PMID:16926379 RGD:2308889, RGD:1600414 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 IDA RGD PMID:2774570 RGD:70269 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA, protein:decreased expression:ovary, granulosa cell RGD PMID:17982271 RGD:5131997 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr12:22,716,421...22,726,982
Ensembl chr12:22,716,423...22,726,982
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 treatment IEP RGD PMID:19619606 RGD:14985223 NCBI chr 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22493691 RGD:6484670 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Reln reelin IEP protein:increased expression:layers of neocortex, hypothalamus (rat) RGD PMID:10436054 RGD:634730 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8880581 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:15281979 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17848262 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19240193 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human) RGD PMID:17588142 RGD:5147628 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:17588142 RGD:5147628 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpina7 serpin family A member 7 IEP protein:increased expression:liver RGD PMID:2106883 RGD:1600137 NCBI chr  X:110,226,565...110,232,202
Ensembl chr  X:110,226,572...110,232,179
JBrowse link
G Shh sonic hedgehog signaling molecule IEP mRNA:decreased expression:cerebellum RGD PMID:18827446 RGD:2306294 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31121238 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
G Slc26a5 solute carrier family 26 member 5 IEP
ISO
protein:altered expression:cochlear outer hair cell (rat)
Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse)
RGD PMID:17520268, PMID:19176829 RGD:9585686, RGD:9585687 NCBI chr 4:9,795,811...9,860,904
Ensembl chr 4:9,821,541...9,860,571
JBrowse link
G Slc2a1 solute carrier family 2 member 1 IEP protein:decreased expression:cerebral cortex RGD PMID:16581179 RGD:12879481 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28860195 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Slc34a1 solute carrier family 34 member 1 IEP protein:decreased expression:renal cortex, brush border membrane (rat) RGD PMID:17409279 RGD:7243134 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP protein:decreased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA
IEP
mRNA:decreased expression:renal cortex (rat) RGD PMID:22076484, PMID:21607622 RGD:8655983, RGD:8655989 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:decreased expression:epididymus (rat) RGD PMID:20303481 RGD:4891505 NCBI chr 1:36,320,504...36,354,694
Ensembl chr 1:36,320,461...36,354,756
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Tg thyroglobulin IAGP
ISO
DNA:missense mutation:CDS:p.G2320R (rat)
ClinVar Annotator: match by term: Hypothyroidism
ClinVar PMID:11089535 RGD:730133 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22985614 RGD:11038688 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tomm70 translocase of outer mitochondrial membrane 70 IEP mRNA:increased expression:striatum RGD PMID:10582581 RGD:11522362 NCBI chr11:45,477,053...45,511,409
Ensembl chr11:45,480,250...45,510,961
JBrowse link
G Trh thyrotropin releasing hormone IEP protein:increased expression:hypothalamus, neuron RGD PMID:16926379 RGD:1600414 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO DNA:nonsense mutation:exon:94G>T (p.E11X) (human)
ClinVar Annotator: match by term: TSH deficiency
ClinVar Annotator: match by term: THYROID-STIMULATING HORMONE DEFICIENCY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1971148 PMID:2792087 PMID:8636437 PMID:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:18031379 PMID:24423284 PMID:24729111 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27387040 PMID:28492532, PMID:1971148 RGD:737692 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 PMID:27060741 PMID:28492532 PMID:28561265 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Ucp2 uncoupling protein 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:21190599 RGD:7175296 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Ucp3 uncoupling protein 3 IEP protein:decreased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
JBrowse link
G Wnt3a Wnt family member 3A IEP mRNA:decreased expression:hippocampus RGD PMID:19233274 RGD:2303791 NCBI chr10:45,598,898...45,643,151
Ensembl chr10:45,598,912...45,638,035
JBrowse link
IGSF1 deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by term: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by OMIM:300888
OMIM
ClinVar
PMID:23143598 PMID:23966245 PMID:25741868 PMID:27310681 PMID:30086211 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
JBrowse link
Isolated Thyrotropin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Thyrotropin deficiency, isolated ClinVar PMID:1971148 PMID:2792087 PMID:8636437 PMID:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:24423284 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27387040 PMID:28492532 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by OMIM:243800
OMIM
ClinVar
PMID:16311597 PMID:18553553 PMID:19006206 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:112,800,557...112,910,038
Ensembl chr 3:112,800,557...112,876,773
JBrowse link
Li-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: LI-CAMPEAU SYNDROME OMIM
ClinVar
PMID:33340455 NCBI chr 6:126,636,596...126,656,513
Ensembl chr 6:126,636,491...126,656,507
JBrowse link
multinodular goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Goiter, multinodular 1, with or without sertoli-leydig cell tumors
ClinVar Annotator: match by term: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
ClinVar Annotator: match by OMIM:138800
ClinVar
OMIM
PMID:6261577 PMID:9295070 PMID:9345104 PMID:18570301 PMID:19556464 PMID:21036787 PMID:21205968 PMID:22187960 PMID:24728327 PMID:25741868 PMID:26033159 PMID:26545620 PMID:26555935 PMID:26925222 PMID:27459524 PMID:28323992 PMID:28492532 PMID:29474644 PMID:29881993 PMID:30178239 PMID:30989777 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Diabetes mellitus, neonatal, with congenital hypothyroidism
ClinVar Annotator: match by OMIM:610199
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 PMID:24033266 PMID:25741868 PMID:26259131 PMID:28253873 PMID:28492532 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
JBrowse link
nodular goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
Nonautoimmune Hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune
ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT
ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:17062880 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO DNA:missense mutation: :2071A>T (p.I691F) (human)
ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune
ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:1955520 PMID:7124278 PMID:7800007 PMID:7920658 PMID:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9253356 PMID:9360555 PMID:9360556 PMID:9385128 PMID:9398746 PMID:9589634 PMID:10037069 PMID:10199795 PMID:10870027 PMID:11442002 PMID:11549687 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16106256 PMID:16756469 PMID:17062880 PMID:17526952 PMID:17953807 PMID:18379122 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19506388 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21586576 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22359649 PMID:22405933 PMID:22876533 PMID:23356285 PMID:23535966 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27578510 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265, PMID:18306976 RGD:8548658 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17503324 NCBI chr10:19,160,566...19,164,505
Ensembl chr10:19,160,582...19,164,505
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by OMIM:274600
ClinVar Annotator: match by term: Pendred's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23869231 PMID:25741868 PMID:27677466 PMID:27875746 PMID:28492532 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: Pendred's syndrome
ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
OMIM
ClinVar
CTD
PMID:2422447 PMID:8541853 PMID:8630498 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9604973 PMID:9618166 PMID:9618167 PMID:9920104 PMID:10190331 PMID:10571950 PMID:10602116 PMID:10644529 PMID:10700480 PMID:10718825 PMID:10861298 PMID:10874637 PMID:10878664 PMID:10902795 PMID:11317356 PMID:11375792 PMID:11405873 PMID:11502831 PMID:11700190 PMID:11716048 PMID:11748854 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12354788 PMID:12642503 PMID:12676893 PMID:12788906 PMID:12920581 PMID:12974744 PMID:14508505 PMID:14679580 PMID:14715652 PMID:15099345 PMID:15279074 PMID:15355436 PMID:15531480 PMID:15574297 PMID:15611902 PMID:15679828 PMID:15689455 PMID:15720248 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16275403 PMID:16283880 PMID:16460646 PMID:16482981 PMID:16570074 PMID:16684826 PMID:16711435 PMID:16773579 PMID:16791000 PMID:16914891 PMID:16924389 PMID:16950989 PMID:16952406 PMID:17125574 PMID:17146393 PMID:17309986 PMID:17322586 PMID:17357124 PMID:17443271 PMID:17503324 PMID:17697873 PMID:17718863 PMID:17766716 PMID:17851929 PMID:17876604 PMID:17940114 PMID:18075246 PMID:18167283 PMID:18250610 PMID:18274916 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:18427006 PMID:18585793 PMID:18641518 PMID:18813951 PMID:18988928 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19199245 PMID:19204907 PMID:19287372 PMID:19318451 PMID:19426954 PMID:19429184 PMID:19509082 PMID:19565036 PMID:19578036 PMID:19608655 PMID:19615760 PMID:19620588 PMID:19645628 PMID:19648736 PMID:19718752 PMID:19744334 PMID:19786220 PMID:19787632 PMID:19888295 PMID:20128824 PMID:20137612 PMID:20146813 PMID:20301640 PMID:20553101 PMID:20583162 PMID:20597900 PMID:20601923 PMID:20621367 PMID:20668687 PMID:20826203 PMID:20842945 PMID:20981092 PMID:21045265 PMID:21154317 PMID:21366435 PMID:21551164 PMID:21557232 PMID:21704276 PMID:21811566 PMID:21961810 PMID:22116358 PMID:22116359 PMID:22116360 PMID:22285650 PMID:22289209 PMID:22384008 PMID:22389666 PMID:22412181 PMID:22717225 PMID:22796198 PMID:22884721 PMID:22903915 PMID:22975760 PMID:23151025 PMID:23151031 PMID:23185506 PMID:23208854 PMID:23266159 PMID:23273637 PMID:23280318 PMID:23296490 PMID:23336812 PMID:23385134 PMID:23401162 PMID:23504402 PMID:23555729 PMID:23617710 PMID:23638949 PMID:23705809 PMID:23718755 PMID:23770805 PMID:23838540 PMID:23918157 PMID:23958391 PMID:23965030 PMID:23967202 PMID:23980138 PMID:24007330 PMID:24033266 PMID:24051746 PMID:24105851 PMID:24156272 PMID:24224479 PMID:24248179 PMID:24338212 PMID:24341454 PMID:24599119 PMID:24612839 PMID:24804242 PMID:24860705 PMID:24875928 PMID:24913939 PMID:24949729 PMID:25015771 PMID:25149764 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25290043 PMID:25358692 PMID:25372295 PMID:25373420 PMID:25394566 PMID:25468468 PMID:25488846 PMID:25491636 PMID:25525159 PMID:25528277 PMID:25724631 PMID:25741868 PMID:25761933 PMID:25788563 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26022370 PMID:26035154 PMID:26100058 PMID:26188157 PMID:26226137 PMID:26252218 PMID:26346818 PMID:26397989 PMID:26445815 PMID:26467025 PMID:26485571 PMID:26549381 PMID:26683941 PMID:26744121 PMID:26752218 PMID:26763877 PMID:26764160 PMID:26886089 PMID:26894580 PMID:26969326 PMID:27068579 PMID:27090054 PMID:27214836 PMID:27240500 PMID:27247933 PMID:27344577 PMID:27373559 PMID:27541434 PMID:27573290 PMID:27771369 PMID:27792752 PMID:27861301 PMID:27863619 PMID:27884173 PMID:27997596 PMID:28000701 PMID:28273078 PMID:28281779 PMID:28389359 PMID:28444304 PMID:28492532 PMID:28604962 PMID:28717060 PMID:28786104 PMID:28901477 PMID:28964290 PMID:28984810 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29372807 PMID:29546359 PMID:29739340 PMID:30068397 PMID:30077349 PMID:30113565 PMID:30139988 PMID:30240412 PMID:30245029 PMID:30268946 PMID:30303587 PMID:30484383 PMID:30622556 PMID:30693673 PMID:30760291 PMID:31599023, PMID:15355436, PMID:14508505, PMID:11152663 RGD:7421514, RGD:7421510, RGD:7411554 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
selective pituitary thyroid hormone resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Thyroid hormone resistance, selective pituitary
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:145650
OMIM
ClinVar
PMID:1159077 PMID:1400873 PMID:8013151 PMID:8040303 PMID:8381821 PMID:8384535 PMID:8496318 PMID:8514853 PMID:8674808 PMID:8889584 PMID:8958790 PMID:10022392 PMID:11518118 PMID:16464943 PMID:16804041 PMID:21871106 PMID:22551329 PMID:24174637 PMID:25040256 PMID:26041374 PMID:26467025 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
thyroid adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Thyroid adenoma ClinVar PMID:11297621 NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
JBrowse link
Thyroid Cancer, Nonmedullary, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4 ClinVar
OMIM
PMID:25381600 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
Thyroid Cancer, Nonmedullary, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Habp2 hyaluronan binding protein 2 ISO ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO OMIM
ClinVar
PMID:12138371 PMID:12578864 PMID:15486068 PMID:26222560 PMID:26581001 PMID:26581002 PMID:26581003 PMID:26581004 PMID:26581005 NCBI chr 1:277,068,715...277,104,567
Ensembl chr 1:277,068,761...277,104,566
JBrowse link
Thyroid Carcinoma, Nonmedullary 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Nonmedullary thyroid carcinoma 1 OMIM
ClinVar
PMID:19176457 PMID:25741868 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
G Pcm1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Nonmedullary thyroid carcinoma 1 ClinVar PMID:10980597 PMID:25741868 NCBI chr16:54,040,721...54,137,675
Ensembl chr16:54,040,721...54,137,660
JBrowse link
thyroid dyshormonogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 1
ClinVar Annotator: match by OMIM:274400
OMIM
ClinVar
PMID:3451231 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 PMID:9657379 PMID:9709973 PMID:9745458 PMID:9814502 PMID:10487695 PMID:10902780 PMID:12161518 PMID:21565787 PMID:25525159 PMID:25741868 PMID:28492532 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
thyroid dyshormonogenesis 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY
ClinVar Annotator: match by term: IODIDE PEROXIDASE DEFICIENCY
ClinVar Annotator: match by OMIM:274500
OMIM
ClinVar
PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 PMID:9814507 PMID:10084596 PMID:10468986 PMID:11061528 PMID:11238503 PMID:11916616 PMID:12213873 PMID:12843174 PMID:14751036 PMID:15055360 PMID:15279913 PMID:15745925 PMID:16684826 PMID:17468186 PMID:18029453 PMID:23236987 PMID:23512414 PMID:24482635 PMID:24790296 PMID:25241611 PMID:25741868 PMID:26565538 PMID:27373559 PMID:27525530 PMID:27617131 PMID:28492532 PMID:30240412 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
thyroid dyshormonogenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sla src-like adaptor ISO ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:107,585,055...107,604,950
Ensembl chr 7:107,584,118...107,634,335
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar Annotator: match by OMIM:274700
OMIM
ClinVar
PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 PMID:9588493 PMID:10199792 PMID:10403171 PMID:10404833 PMID:11484898 PMID:12915634 PMID:14657345 PMID:14764776 PMID:15579800 PMID:15611820 PMID:15769978 PMID:16187910 PMID:16187918 PMID:16403815 PMID:16477365 PMID:16720658 PMID:17033963 PMID:17244789 PMID:19339519 PMID:20410234 PMID:20447071 PMID:20981092 PMID:21128992 PMID:21900383 PMID:21958696 PMID:23164529 PMID:23455760 PMID:23457309 PMID:23535966 PMID:23933148 PMID:24033266 PMID:25741868 PMID:26595189 PMID:26742565 PMID:26777470 PMID:26813946 PMID:27373559 PMID:27498126 PMID:28492532 PMID:29590070 PMID:31042289 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
JBrowse link
thyroid dyshormonogenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
ClinVar Annotator: match by OMIM:274800
OMIM
ClinVar
PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 NCBI chr 1:40,086,513...40,100,966
Ensembl chr 1:40,086,470...40,101,840
JBrowse link
thyroid dyshormonogenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5
ClinVar Annotator: match by OMIM:274900
OMIM
ClinVar
PMID:18042646 PMID:23292166 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
JBrowse link
thyroid dyshormonogenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6
ClinVar Annotator: match by term: Nongoitrous Euthyroid Hyperthyrotropinemia
ClinVar Annotator: match by OMIM:607200
OMIM
ClinVar
PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 PMID:18765513 PMID:19789206 PMID:20187165 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 PMID:25248169 PMID:25741868 PMID:25928756 PMID:26334177 PMID:26349762 PMID:26709262 PMID:26742565 PMID:26990548 PMID:27108200 PMID:27166716 PMID:27498126 PMID:27557340 PMID:27821020 PMID:28444304 PMID:28492532 PMID:28541007 PMID:28666341 PMID:29092890 PMID:30022773 PMID:30154845 PMID:30240412 PMID:31030636 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
thyroid gland anaplastic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx7 chromobox 7 ISO mRNA,protein:decreased expression:thyroid gland:
mRNA:decreased expression:thyroid gland:
mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:
RGD PMID:19706751, PMID:18701502, PMID:18701502 RGD:9586729, RGD:9587357, RGD:9587357 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:thyroid gland: RGD PMID:20956945 RGD:41404697 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15887859 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Anaplastic thyroid carcinoma ClinVar PMID:1565144 PMID:7732013 PMID:8423216 PMID:9242456 PMID:9569050 PMID:10864200 PMID:12672316 PMID:12826609 PMID:15390294 PMID:15607980 PMID:15951970 PMID:16401470 PMID:16489069 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:20128691 PMID:20516128 PMID:20693561 PMID:21343334 PMID:21484931 PMID:21552135 PMID:21761402 PMID:22811390 PMID:22899716 PMID:23161690 PMID:24381225 PMID:24487413 PMID:24641375 PMID:24677579 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:26467025 PMID:26619011 PMID:26681312 PMID:27374712 PMID:28453743 PMID:28492532 PMID:29489754 PMID:30224644 PMID:30816478 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
thyroid gland cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh16 cadherin 16 ISO mRNA, protein:decreased expression:Thyroid RGD PMID:22028439 RGD:13792552 NCBI chr19:568,329...578,513
Ensembl chr19:568,287...578,520
JBrowse link
G Mapk1 mitogen activated protein kinase 1 disease_progression ISO mRNA, protein:increased expression RGD PMID:28992617 RGD:13792721 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mir21 microRNA 21 ameliorates IMP RGD PMID:20956945 RGD:41404697 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:thyroid (mouse) RGD PMID:25246276 RGD:13825129 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
thyroid gland carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0c ATPase H+ transporting V0 subunit C disease_progression ISO DNA:hypermethylation:promoter RGD PMID:30884810 RGD:14696825 NCBI chr10:13,537,031...13,543,407
Ensembl chr10:13,537,033...13,542,077
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Thyroid carcinoma ClinVar PMID:2904651 PMID:3078962 PMID:7595171 PMID:7608256 PMID:7824936 PMID:7849700 PMID:7874109 PMID:7907913 PMID:7915822 PMID:8099202 PMID:8103403 PMID:8570194 PMID:8757765 PMID:8765374 PMID:8909322 PMID:8918855 PMID:9230192 PMID:9242375 PMID:9879991 PMID:9950371 PMID:10522989 PMID:11389085 PMID:11900218 PMID:11987030 PMID:12000816 PMID:12466368 PMID:12864791 PMID:15184865 PMID:15472167 PMID:15588376 PMID:16314641 PMID:16525712 PMID:16707008 PMID:16778204 PMID:16817830 PMID:16849421 PMID:16865647 PMID:16868135 PMID:17065770 PMID:17102080 PMID:17102083 PMID:17178962 PMID:17270543 PMID:17316110 PMID:17573899 PMID:17605401 PMID:17639058 PMID:17895320 PMID:18062802 PMID:18063059 PMID:18209889 PMID:18976013 PMID:19015274 PMID:19825962 PMID:21449769 PMID:21765987 PMID:21810974 PMID:22900816 PMID:23416954 PMID:23617071 PMID:23861463 PMID:24561444 PMID:24784869 PMID:25027091 PMID:25157968 PMID:25440022 PMID:25515555 PMID:25741868 PMID:26467025 PMID:27539324 PMID:27698838 PMID:28469506 PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
thyroid gland follicular carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISS
ISO
OMIM:188470
ClinVar Annotator: match by term: Follicular thyroid carcinoma
MouseDO
ClinVar
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27440272 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Follicular thyroid carcinoma ClinVar PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISS OMIM:188470 MouseDO NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO
ISS
ClinVar Annotator: match by term: Follicular thyroid carcinoma
OMIM:188470
ClinVar
MouseDO
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:12460918 PMID:12727991 PMID:14508525 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18948947 PMID:19075190 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:25157968 PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISS OMIM:188470 MouseDO NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:188470 MouseDO NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISS OMIM:188470 MouseDO NCBI chr 7:63,968,915...64,251,449
Ensembl chr 7:63,973,279...64,251,110
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27440272 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
thyroid gland Hurthle cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx7 chromobox 7 ISO protein:decreased expression:thyroid Human) RGD PMID:25759796 RGD:11352710 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by OMIM:607464 OMIM
ClinVar
PMID:15841082 NCBI chr16:21,275,311...21,282,246
Ensembl chr16:21,275,311...21,282,246
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
thyroid gland medullary carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Medullary Thyroid Cancer ClinVar PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medullary thyroid carcinoma
ClinVar Annotator: match by term: Medullary thyroid cancer (MTC)
CTD
ClinVar
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7491519 PMID:7536460 PMID:7595171 PMID:7608256 PMID:7633441 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849700 PMID:7849720 PMID:7860065 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7914213 PMID:7915165 PMID:7915822 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8556059 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8675603 PMID:8757765 PMID:8765374 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8880581 PMID:8909322 PMID:8918855 PMID:9012462 PMID:9067749 PMID:9090527 PMID:9111992 PMID:9146685 PMID:9174404 PMID:9223675 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9498388 PMID:9506724 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9699127 PMID:9820617 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10235148 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10522989 PMID:10679286 PMID:11114642 PMID:11230481 PMID:11351254 PMID:11389085 PMID:11524247 PMID:11562352 PMID:11739416 PMID:11900218 PMID:11935126 PMID:11939755 PMID:11987030 PMID:12000816 PMID:12116277 PMID:12205548 PMID:12466368 PMID:12566528 PMID:12604374 PMID:12686527 PMID:12711285 PMID:12746565 PMID:12788868 PMID:12864791 PMID:14561794 PMID:14715928 PMID:14718397 PMID:15184865 PMID:15277225 PMID:15281979 PMID:15292360 PMID:15472167 PMID:15523405 PMID:15531714 PMID:15588376 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15855933 PMID:15858153 PMID:15870131 PMID:16053382 PMID:16099853 PMID:16118333 PMID:16314641 PMID:16322339 PMID:16343097 PMID:16388093 PMID:16419493 PMID:16469774 PMID:16525712 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16778204 PMID:16817830 PMID:16849421 PMID:16865647 PMID:16868135 PMID:17021738 PMID:17047083 PMID:17065770 PMID:17097365 PMID:17102080 PMID:17102083 PMID:17102091 PMID:17108110 PMID:17178962 PMID:17209045 PMID:17270543 PMID:17316110 PMID:17483988 PMID:17527003 PMID:17540634 PMID:17573899 PMID:17605401 PMID:17610518 PMID:17639058 PMID:17848262 PMID:17895320 PMID:17898100 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18206480 PMID:18209889 PMID:18252215 PMID:18541894 PMID:18794325 PMID:18976013 PMID:19015274 PMID:19041016 PMID:19062722 PMID:19169500 PMID:19240193 PMID:19255327 PMID:19336503 PMID:19469690 PMID:19472011 PMID:19825962 PMID:19826964 PMID:19906784 PMID:20065189 PMID:20080836 PMID:20103606 PMID:20368568 PMID:20516206 PMID:20554711 PMID:20847059 PMID:20943719 PMID:20979234 PMID:21054478 PMID:21253810 PMID:21254918 PMID:21311890 PMID:21422799 PMID:21422803 PMID:21449769 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21551259 PMID:21655256 PMID:21690267 PMID:21765987 PMID:21810974 PMID:21986619 PMID:22025146 PMID:22068382 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22584710 PMID:22676344 PMID:22703879 PMID:22900816 PMID:22992277 PMID:23056499 PMID:23295303 PMID:23404858 PMID:23416954 PMID:23617071 PMID:23660872 PMID:23723040 PMID:23861463 PMID:24033266 PMID:24055113 PMID:24064755 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24375508 PMID:24449023 PMID:24561444 PMID:24617864 PMID:24716929 PMID:24784869 PMID:24805091 PMID:24845513 PMID:25027091 PMID:25157968 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25515555 PMID:25628771 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25810047 PMID:25887804 PMID:25950813 PMID:26046350 PMID:26084817 PMID:26269449 PMID:26332594 PMID:26356818 PMID:26467025 PMID:26556299 PMID:26732158 PMID:27153395 PMID:27406704 PMID:27539324 PMID:27673361 PMID:27698838 PMID:27807060 PMID:27994876 PMID:28099363 PMID:28166811 PMID:28323957 PMID:28469506 PMID:28492532 PMID:28647780 PMID:28946813 PMID:28951487 PMID:29097883 PMID:29133048 PMID:29197744 PMID:29656518 PMID:30644554 PMID:30927507 PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
thyroid gland papillary carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Begain brain-enriched guanylate kinase-associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:132,936,964...132,972,569
Ensembl chr 6:132,936,970...132,972,511
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase onset ISO
IMP
DNA:mutation:cds:p.V600E(human)
ClinVar Annotator: match by term: Thyroid cancer, papillary
DNA:missense mutation:cds;p.V600E(rat)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27222248 PMID:27404270 PMID:27480103 PMID:28030816 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627, PMID:22702340, PMID:31953036 RGD:7241798, RGD:32716372 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Brd4 bromodomain containing 4 ISO mRNA, protein:increased expression:thyroid RGD PMID:26707881 RGD:11085509 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Camk2n1 calcium/calmodulin-dependent protein kinase II inhibitor 1 ISO mRNA:increased expression:thyroid gland RGD PMID:23569218 RGD:18337285 NCBI chr 5:156,876,706...156,878,486
Ensembl chr 5:156,876,706...156,878,486
JBrowse link
G Cat catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cbx7 chromobox 7 ISO mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:
mRNA:decreased expression:thyroid gland (mouse)
RGD PMID:18701502, PMID:18701502 RGD:9587357, RGD:9587357 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Ccdc6 coiled-coil domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr20:19,729,005...19,825,219
Ensembl chr20:19,732,894...19,825,150
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:promoter RGD PMID:25520863 RGD:13792554 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Ctnnb1 catenin beta 1 disease_progression ISO mRNA:increased expression:thyroid RGD PMID:29498921, PMID:28677753 RGD:13792558, RGD:13792605 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Dio3 iodothyronine deiodinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:134,627,278...134,629,139
Ensembl chr 6:134,627,278...134,629,138
JBrowse link
G Dio3os DIO3 opposite strand upstream RNA ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:134,623,450...134,626,974 JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 2:236,232,115...236,345,061
Ensembl chr 2:236,233,239...236,345,056
JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:25741868 NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,713,430...133,713,526
Ensembl chr 6:133,713,430...133,713,526
JBrowse link
G Mir134 microRNA 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,884,547...133,884,619
Ensembl chr 6:133,884,531...133,884,633
JBrowse link
G Mir136 microRNA 136 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,716,761...133,716,842
Ensembl chr 6:133,716,761...133,716,842
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,888,586...133,888,669
Ensembl chr 6:133,888,586...133,888,669
JBrowse link
G Mir299b microRNA 299b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,859,295...133,859,412
Ensembl chr 6:133,859,295...133,859,412
JBrowse link
G Mir300 microRNA 300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,874,152...133,874,230
Ensembl chr 6:133,874,144...133,874,233
JBrowse link
G Mir323 microRNA 323 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,861,199...133,861,284
Ensembl chr 6:133,861,199...133,861,284
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,705,920...133,706,016
Ensembl chr 6:133,705,920...133,706,016
JBrowse link
G Mir3581 microRNA 3581 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,893,418...133,893,497
Ensembl chr 6:133,893,418...133,893,497
JBrowse link
G Mir370 microRNA 370 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,739,916...133,739,994
Ensembl chr 6:133,739,916...133,739,994
JBrowse link
G Mir377 microRNA 377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,890,690...133,890,761
Ensembl chr 6:133,890,646...133,890,779
JBrowse link
G Mir381 microRNA 381 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,876,615...133,876,675
Ensembl chr 6:133,876,586...133,876,693
JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,893,997...133,894,072
Ensembl chr 6:133,893,993...133,894,073
JBrowse link
G Mir411 microRNA 411 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,858,849...133,858,924
Ensembl chr 6:133,858,844...133,858,939
JBrowse link
G Mir412 microRNA 412 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,893,571...133,893,640
Ensembl chr 6:133,893,565...133,893,644
JBrowse link
G Mir431 microRNA 431 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,711,425...133,711,538
Ensembl chr 6:133,711,425...133,711,538
JBrowse link
G Mir433 microRNA 433 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,712,334...133,712,426
Ensembl chr 6:133,712,334...133,712,426
JBrowse link
G Mir487b microRNA 487b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,877,124...133,877,205
Ensembl chr 6:133,877,124...133,877,205
JBrowse link
G Mir494 microRNA 494 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,864,370...133,864,452
Ensembl chr 6:133,864,369...133,864,453
JBrowse link
G Mir496 microRNA 496 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,889,283...133,889,361
Ensembl chr 6:133,889,283...133,889,361
JBrowse link
G Mir770 microRNA 770 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:133,682,965...133,683,040
Ensembl chr 6:133,682,957...133,683,050
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Plau plasminogen activator, urokinase severity ISO mRNA:increased expression:thyroid gland (human) RGD PMID:22702340 RGD:7241798 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:134,804,128...134,941,912
Ensembl chr 6:134,804,141...134,939,358
JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO protein:decreased expression:thyroid gland (human) RGD PMID:19066305 RGD:9835342 NCBI chr 5:156,008,868...156,074,350
Ensembl chr 5:156,026,911...156,074,395
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:25520863 RGD:13792554 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Rxrg retinoid X receptor gamma ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr13:85,818,473...85,868,555
Ensembl chr13:85,818,427...85,868,552
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 3:164,274,710...164,279,199
Ensembl chr 3:164,274,710...164,279,378
JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797
JBrowse link
G Tpm3 tropomyosin 3 ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 2:189,423,534...189,451,340
Ensembl chr 2:189,423,559...189,451,029
JBrowse link
G Wars1 tryptophanyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210
JBrowse link
G Wdr20 WD repeat domain 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:135,156,984...135,226,425
Ensembl chr 6:135,156,984...135,226,425
JBrowse link
G Wdr3 WD repeat domain 3 susceptibility ISO DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human) RGD PMID:20578902 RGD:11041898 NCBI chr 2:202,447,749...202,470,398
Ensembl chr 2:202,447,745...202,470,399
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
thyroid hormone resistance syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncoa1 nuclear receptor coactivator 1 ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr 6:28,677,563...28,931,844
Ensembl chr 6:28,677,540...28,931,843
JBrowse link
G Thra thyroid hormone receptor alpha ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr10:86,657,285...86,684,935
Ensembl chr10:86,657,285...86,684,933
JBrowse link
G Thrb thyroid hormone receptor beta susceptibility ISO DNA:missense mutation:exon:p.I276L (human)
ClinVar Annotator: match by term: Thyroid hormone resistance syndrome
ClinVar Annotator: match by term: Thyroid Hormone Resistance
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1324420 PMID:8013151 PMID:9349583 PMID:9804773 PMID:10660344 PMID:25040256 PMID:25741868 PMID:26273722 PMID:26467025, PMID:15913586 RGD:1601659 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519
JBrowse link
thyroid malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Thyroid dysgenesis ClinVar PMID:9382140