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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:thyroid gland disease
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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.



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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cnst consortin, connexin sorting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr13:91,296,740...91,373,531
Ensembl chr13:91,296,142...91,373,531
JBrowse link
G Dio1 iodothyronine deiodinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17105838 NCBI chr 5:122,074,285...122,090,983
Ensembl chr 5:122,074,279...122,090,970
JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809
JBrowse link
G Gulp1 GULP PTB domain containing engulfment adaptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 9:46,622,699...46,899,005
Ensembl chr 9:46,622,669...46,899,005
JBrowse link
G Id2 inhibitor of DNA binding 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 6:41,740,556...41,742,393
Ensembl chr 6:41,728,946...41,744,400
JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
JBrowse link
G Itgb5 integrin subunit beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
JBrowse link
G Klf9 Kruppel-like factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 1:220,700,108...220,725,029
Ensembl chr 1:220,700,108...220,725,037
JBrowse link
G Tbx3 T-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708
JBrowse link
G Tgoln2 trans-golgi network protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 4:104,663,356...104,671,208
Ensembl chr 4:104,663,353...104,671,164
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:24033266 PMID:25741868 PMID:29882503 NCBI chr17:13,538,513...13,569,573
Ensembl chr17:13,538,513...13,569,523
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chr 4:157,668,878...157,695,366 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
RGD
PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532 PMID:16352685 More... RGD:2302003, RGD:7421515, RGD:1300386 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Ifng interferon gamma IEP mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il4 interleukin 4 IMP RGD PMID:9892610 RGD:8142396 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO RGD PMID:10404822 RGD:1641847 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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 1:228,016,439...228,024,736 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22374238 RGD:6484667 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12948297 RGD:2301816 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:12126634 RGD:5147805 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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
RGD
PMID:10403171 PMID:12915634 PMID:14657345 PMID:15579800 PMID:19339519 More... RGD:5147557, RGD:8548629 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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 7:99,886,954...100,054,288
Ensembl chr 7:99,886,954...100,054,274
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 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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 More... NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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 Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 More... NCBI chr15:2,593,473...2,634,019
Ensembl chr15:2,593,578...2,633,503
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
RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 More... RGD:9588484 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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
RGD
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 More... RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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 chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:26467025 NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
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 chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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 More... NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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 More... NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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 More... NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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 chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410
JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d IEP protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr10:100,657,700...100,662,960
Ensembl chr10:100,657,708...100,663,479
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IDA mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 More... RGD:734905 NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:28492532 NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23079472 RGD:10395304 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Foxe1 forkhead box E1 ISS MouseDO NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Ghr growth hormone receptor treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139
JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319
JBrowse link
G Nefh neurofilament heavy chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nefm neurofilament medium chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
JBrowse link
G Ngfr nerve growth factor receptor treatment IEP RGD PMID:23312094 RGD:10414076 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Pax8 paired box 8 ISO
ISS
nongoitrous congenital hypothyroidism 2, OMIM:218700
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
MouseDO
RGD
PMID:16763387 PMID:25146893 PMID:26362610 PMID:9590296 RGD:1600298 NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Runx2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chr 5:27,884,400...28,021,865
Ensembl chr 5:27,887,042...28,021,658
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
RGD
PMID:3998954 PMID:10487695 PMID:9171822 RGD:1624273 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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 More... NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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
RGD
PMID:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868 More... RGD:1599648 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD
ClinVar
RGD
PMID:11442002 PMID:12629076 PMID:15693879 PMID:17526952 PMID:19158199 More... RGD:150521601 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit IMP RGD PMID:29507327 RGD:150521601
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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 More... NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
JBrowse link
G Tshr thyroid stimulating hormone receptor treatment ISO
IMP
ClinVar Annotator: match by term: TSH RESISTANCE ClinVar
RGD
PMID:1955520 PMID:9385128 PMID:10037069 PMID:17062880 PMID:24728327 More... RGD:150521601 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit treatment IMP RGD PMID:29507327 RGD:150521601
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 More... NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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 More... NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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 More... NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
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 More... NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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 PMID:34008892 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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 More... NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936
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 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309
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:41,574,558...41,731,117
Ensembl chr  X:41,576,047...41,731,101
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:105,344,016...105,359,985 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 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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 chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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
RGD
PMID:683332 PMID:1859851 PMID:1946412 PMID:2104980 PMID:2226433 More... RGD:11035290, RGD:11035292 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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:25741868 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
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 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Prlr prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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 More... NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Cbx7 chromobox 7 ISO protein:decreased expression:thyroid gland: RGD PMID:18701502 RGD:9587357 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
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 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730
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 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pax8 paired box 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15785241 NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:15785241 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 ClinVar NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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 More... NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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 More... NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
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
RGD
PMID:15279074 PMID:16053392 PMID:17322586 PMID:12974744 RGD:1599217 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link
G Tek TEK receptor tyrosine kinase IEP mRNA:increased expression:thyroid RGD PMID:11397875 RGD:1601510 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
JBrowse link
G Tg thyroglobulin susceptibility ISO associated with Hypothyroidism;DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8094490 PMID:24582622 PMID:1752952 RGD:1600141 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tpo thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12564727 PMID:14751036 PMID:17547680 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Kif1a kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tshr thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:31705858 PMID:22673349 PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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 chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
JBrowse link
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:96,808,473...96,833,674
Ensembl chr14:96,806,664...96,835,273
JBrowse link
G Btnl2 butyrophilin-like 2 onset ISO DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr20:4,490,904...4,502,557
Ensembl chr20:4,489,517...4,503,341
JBrowse link
G C4a complement C4A ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
JBrowse link
G C4b complement C4B (Chido blood group) ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
JBrowse link
G Cat catalase treatment ISO protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 4:157,668,878...157,695,366 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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:8875745 RGD:8547747 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
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
RGD
PMID:19731979 PMID:21841780 PMID:23104008 PMID:9861324 PMID:10404810 More... RGD:2302000, RGD:11352245, RGD:7421517, RGD:7421515, RGD:7421507, RGD:7421505, RGD:1300388, RGD:2302001 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dnmt1 DNA methyltransferase 1 treatment ISO DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISO RGD PMID:15497458 RGD:1580387 NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:27,838,802...27,848,653
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
RGD
PMID:12050214 PMID:16868893 PMID:12050214 RGD:5509883, RGD:5509886 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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
RGD
PMID:33132244 PMID:9848715 PMID:15544617 PMID:16970687 PMID:15068623 More... RGD:8142372, RGD:8157604, RGD:8157599, RGD:8142393, RGD:8142373 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snp:intron:IVS1+18G>A (rs3819025) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:33132244 PMID:22816799 RGD:9068423 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2279527 RGD:8662947 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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
RGD
PMID:16372246 PMID:21235536 PMID:12818091 RGD:7829719, RGD:7829750 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16372246 PMID:12818091 RGD:7829750 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:23109646 RGD:8693341 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:1346144 PMID:7928443 RGD:8548778, RGD:8548790 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Pdcd1 programmed cell death 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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
RGD
PMID:21190368 PMID:15504986 PMID:17608818 PMID:18687223 RGD:6484538, RGD:7829763, RGD:7829738 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Rnaset2 ribonuclease T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 susceptibility
onset
ISO DNA:polymorphism:cds:HLA-B39 (human)
DNA:polymorphism, haplotype:cds:HLA-B*5801 (human)
DNA:polymorphism:cds:HLA-B8 (human)
DNA:polymorphism:cds:HLA-B*46 (human)
DNA:polymorphism, haplotype:cds:HLA-B8 (human)
RGD PMID:2401095 PMID:8096501 PMID:8894996 PMID:12694583 PMID:23329888 RGD:7365094 RGD:7365098 RGD:7365110 RGD:7365112 RGD:7365118 NCBI chr20:4,905,309...4,914,593 JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms::HLA-DQA1*0501; RGD PMID:8706297 RGD:8547558 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 NCBI chr20:3,314,984...3,318,037 JBrowse link
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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
RGD
PMID:33132244 PMID:14636875 PMID:95586 PMID:17550957 PMID:22662162 More... RGD:8548606, RGD:8548645, RGD:8548644, RGD:8548643, RGD:8548630 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tpo thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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
RGD
PMID:1955520 PMID:21841780 PMID:21642385 PMID:9528975 PMID:21155717 More... RGD:8548654, RGD:8548669, RGD:8548665, RGD:8548664, RGD:8548663, RGD:8548661, RGD:8548657, RGD:8548656, RGD:8548655 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Tshr-ps1 thyroid stimulating hormone receptor, pseudogene 1 ISO RGD PMID:23538203 RGD:8548657 NCBI chr 4:92,142,656...92,143,138 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 More... RGD:1331525, RGD:8158053, RGD:8158053, RGD:8157632, RGD:8157628, RGD:8157628, RGD:8157624 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
JBrowse link
G Cat catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
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
RGD
PMID:25741868 PMID:26884280 PMID:27577878 PMID:28492532 PMID:18752454 RGD:7421513 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma severity ISO DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il6 interleukin 6 ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16372246 PMID:21235536 RGD:7829719 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:19254248 RGD:5147613 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tg thyroglobulin no_association ISO
IDA
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:multiple
CTD
RGD
PMID:30373627 PMID:14636875 PMID:3052944 PMID:18656705 PMID:21559421 RGD:8548606, RGD:8548647, RGD:8548630, RGD:8548607 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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:9360556 PMID:9398746 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:9022675 RGD:2306952 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Anxa2 annexin A2 IEP protein:decreased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
JBrowse link
G Anxa5 annexin A5 IEP protein:decreased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Apoa1 apolipoprotein A1 IDA RGD PMID:1466661 RGD:1599158 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa2 apolipoprotein A2 IEP RGD PMID:1466661 RGD:1599158 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
JBrowse link
G Apoc3 apolipoprotein C3 IDA RGD PMID:8429259 RGD:1599190 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12621104 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Bdh1 3-hydroxybutyrate dehydrogenase 1 IEP protein:decreased activity:liver, mitochondrion (rat) RGD PMID:3422549 RGD:4105460 NCBI chr11:69,302,534...69,343,173
Ensembl chr11:69,302,534...69,337,671
JBrowse link
G Cab39 calcium binding protein 39 IEP mRNA,protein:increased expression:muscle: RGD PMID:18669938 RGD:10059691 NCBI chr 9:86,463,008...86,524,545
Ensembl chr 9:86,463,095...86,524,544
JBrowse link
G Cartpt CART prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12395121 NCBI chr 2:31,255,098...31,257,452
Ensembl chr 2:31,255,098...31,290,713
JBrowse link
G Cat catalase IEP
ISO
mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23391542 PMID:19914224 RGD:9068475 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:16756463 RGD:8547761 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cp ceruloplasmin IEP protein:increased expression:serum RGD PMID:18210749 RGD:2314689 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:extensor digitorum longus (rat) RGD PMID:19777444 RGD:2315547 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Gpx1 glutathione peroxidase 1 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19914224 PMID:19914224 RGD:9068475 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19914224 PMID:25242845 RGD:10401891 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23623788 RGD:10755742 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:increased expression:myocardium RGD PMID:17447016 RGD:2311524 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il10 interleukin 10 ISO
IEP
associated with Graves Disease RGD PMID:21474590 PMID:24534949 RGD:7364857, RGD:11049472 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Mcm7 minichromosome maintenance complex component 7 IEP RGD PMID:17394799 RGD:2317698 NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063
JBrowse link
G Mthfr methylenetetrahydrofolate reductase IEP protein:increased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IEP RGD PMID:1315530 RGD:10448989 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14678291 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:increased expression:soleus muscle (rat) RGD PMID:18669938 RGD:10059691 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Serpina7 serpin family A member 7 IEP protein:decreased expression:serum (rat) RGD PMID:2505856 RGD:1600139 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:14512089 RGD:8547758 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP protein:increased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19914224 PMID:22476324 RGD:8655984 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19914224 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Stk11 serine/threonine kinase 11 IEP mRNA,protein:increased expression:muscle: RGD PMID:18669938 RGD:10059691 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7800007 PMID:8413627 PMID:8964822 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Ucp3 uncoupling protein 3 IEP protein:increased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA:increased expression:hepatocyte RGD PMID:14620509 RGD:1600445 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Vim vimentin IEP protein:increased expression, hyperphosphorylation:testis RGD PMID:17306450 RGD:6480446 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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 chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Dio1 iodothyronine deiodinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3346351 NCBI chr 5:122,074,285...122,090,983
Ensembl chr 5:122,074,279...122,090,970
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 5:122,074,285...122,090,983
Ensembl chr 5:122,074,279...122,090,970
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 7:122,263,034...122,311,642
Ensembl chr 7:122,263,032...122,311,642
JBrowse link
G Adrb2 adrenoceptor beta 2 IEP mRNA,protein:decreased expression:brown adipose tissue, heart: RGD PMID:1651697 RGD:8548533 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Alad aminolevulinate dehydratase IEP protein:decreased activity:blood (rat) RGD PMID:17720948 RGD:4144163 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:9022675 RGD:2306952 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Anxa2 annexin A2 IEP protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
JBrowse link
G Anxa5 annexin A5 IEP protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Apoa5 apolipoprotein A5 IEP protein:decreased expression:liver RGD PMID:15941710 RGD:1601661 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apoc3 apolipoprotein C3 IDA RGD PMID:8429259 RGD:1599190 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apoe apolipoprotein E IEP protein:increased expression:plasma, high-density lipoprotein particle (rat) RGD PMID:6816881 RGD:12904658 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) IEP RGD PMID:12595491 RGD:704374 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
JBrowse link
G Arsa arylsulfatase A IDA RGD PMID:7901316 RGD:1599223 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IEP mRNA:decreased expression:heart left ventricle RGD PMID:21217071 RGD:6904140 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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 chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
JBrowse link
G Bad BCL2-associated agonist of cell death IEP RGD PMID:22513421 RGD:10053713 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:20600205 RGD:4891132 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Cat catalase treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cav1 caveolin 1 IEP protein:increased expression:cerebellum RGD PMID:21611807 RGD:6784532 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 IEP RGD PMID:22987596 RGD:13782376 NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP mRNA:increased expression:heart ventricle RGD PMID:8745212 RGD:7257542 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Col2a1 collagen type II alpha 1 chain treatment IDA RGD PMID:17310101 RGD:8661259 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Dcx doublecortin IEP protein:altered expression:cerebellum RGD PMID:22595232 RGD:12904757 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 IEP mRNA, protein:increased expression:thyroid gland RGD PMID:11694350 RGD:2316251 NCBI chr15:41,005,551...41,111,724
Ensembl chr15:41,005,551...41,111,829
JBrowse link
G Elavl4 ELAV like RNA binding protein 4 IEP mRNA,protein:increased expression:brain: RGD PMID:12859688 RGD:1579855 NCBI chr 5:125,056,848...125,200,543
Ensembl chr 5:125,056,848...125,200,446
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP mRNA,protein:increased expression,increased activity:hippocampus: RGD PMID:15811553 RGD:9685476 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
G F7 coagulation factor VII IEP protein:increased expression:plasma (rat) RGD PMID:989968 RGD:2312322 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Foxp3 forkhead box P3 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:increased expression:plasma (rat) RGD PMID:9030821 RGD:2312549 NCBI chr10:80,968,410...80,976,506
Ensembl chr10:80,968,352...80,976,503
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 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IDA RGD PMID:22733496 RGD:7257534 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP mRNA:increased expression:heart (rat) RGD PMID:19728039 RGD:5685027 NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262
JBrowse link
G Gsn gelsolin IEP Protein:increased expression:cochlea RGD PMID:2848627 RGD:1599872 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Ifng interferon gamma treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1380443 RGD:12910458 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 IEP RGD PMID:11834454 RGD:1626512 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:24534949 PMID:29896255 RGD:11049472, RGD:38549578 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G L1cam L1 cell adhesion molecule IEP mRNA,protein:increased expression: cerebral cortex: RGD PMID:11085884 RGD:11570514 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
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 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Map1a microtubule-associated protein 1A IEP protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 3:108,263,217...108,283,936
Ensembl chr 3:108,263,151...108,282,899
JBrowse link
G Map1b microtubule-associated protein 1B IEP protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
JBrowse link
G Mbp myelin basic protein IEP RGD PMID:11592121 RGD:27226698 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein IEP RGD PMID:11592121 RGD:27226698 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
JBrowse link
G Mstn myostatin IEP RGD PMID:18997488 RGD:2303545 NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
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 chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Mthfr methylenetetrahydrofolate reductase IEP protein:decreased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Myh6 myosin heavy chain 6 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 IEP RGD PMID:2950137 PMID:1703406 RGD:12792943, RGD:12798563 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:increased expression:hippocampus RGD PMID:20412599 RGD:2326028 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Ncoa1 nuclear receptor coactivator 1 IEP mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 IEP mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
JBrowse link
G Nefh neurofilament heavy chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nefl neurofilament light chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nefm neurofilament medium chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
JBrowse link
G Ngf nerve growth factor IEP mRNA:decreased expression:hypothalamus RGD PMID:19233274 RGD:2303791 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nos2 nitric oxide synthase 2 IEP mRNA, protein:altered expression:cerebral cortex RGD PMID:21196918 RGD:4891143 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased activity:ovary (rat) RGD PMID:29214681 RGD:13504721 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IEP RGD PMID:1315530 RGD:10448989 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
JBrowse link
G Otof otoferlin IEP mRNA, protein:decreased expression:cochlea (rat) RGD PMID:17376979 RGD:9491752 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase IEP mRNA:increased stability:pituitary gland RGD PMID:8940376 RGD:2302427 NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965
JBrowse link
G Pcna proliferating cell nuclear antigen IEP RGD PMID:21273639 RGD:10448988 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 IDA RGD PMID:2774570 RGD:70269 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA, protein:decreased expression:ovary, granulosa cell RGD PMID:17982271 RGD:5131997 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 treatment IEP RGD PMID:19619606 RGD:14985223 NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22493691 RGD:6484670 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Reln reelin IEP protein:increased expression:layers of neocortex, hypothalamus (rat) RGD PMID:10436054 RGD:634730 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:17588142 RGD:5147628 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Serpina7 serpin family A member 7 IEP protein:increased expression:liver RGD PMID:2106883 RGD:1600137 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040
JBrowse link
G Shh sonic hedgehog signaling molecule IEP mRNA:decreased expression:cerebellum RGD PMID:18827446 RGD:2306294 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31121238 NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
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 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
JBrowse link
G Slc2a1 solute carrier family 2 member 1 IEP protein:decreased expression:cerebral cortex RGD PMID:16581179 RGD:12879481 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28860195 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP protein:decreased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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 chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:decreased expression:epididymus (rat) RGD PMID:20303481 RGD:4891505 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Tg thyroglobulin treatment IAGP
ISO
DNA:missense mutation:CDS:p.G2320R (rat)
ClinVar Annotator: match by term: Hypothyroidism
ClinVar
RGD
PMID:11089535 PMID:16365524 RGD:730133, RGD:150429798 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
JBrowse link
G Tgrdw thyroglobulin; rdw mutant treatment IAGP compared to wild type and heterozygotes RGD PMID:16365524 PMID:11089535 RGD:150429798, RGD:730133
G Thbd thrombomodulin ISO RGD PMID:22985614 RGD:11038688 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tomm70 translocase of outer mitochondrial membrane 70 IEP mRNA:increased expression:striatum RGD PMID:10582581 RGD:11522362 NCBI chr11:43,378,719...43,417,166
Ensembl chr11:43,377,216...43,417,202
JBrowse link
G Tpo thyroid peroxidase ISO Hypothyroidism, congenital OMIA PMID:2307615 PMID:7695146 PMID:7730121 PMID:7744675 PMID:8091179 More... NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Trh thyrotropin releasing hormone IEP protein:increased expression:hypothalamus, neuron RGD PMID:16926379 RGD:1600414 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309
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
RGD
PMID:1971148 PMID:2792087 PMID:8636437 PMID:9589689 PMID:11297590 More... RGD:737692 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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 More... NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Ucp2 uncoupling protein 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:21190599 RGD:7175296 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ucp3 uncoupling protein 3 IEP protein:decreased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Wnt3a Wnt family member 3A IEP mRNA:decreased expression:hippocampus RGD PMID:19233274 RGD:2303791 NCBI chr10:44,034,174...44,078,463
Ensembl chr10:44,034,194...44,078,324
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 chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
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:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139
JBrowse link
Inherited Thyroxine-Binding Globulin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina7 serpin family A member 7 ISO ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P ClinVar PMID:1901689 PMID:2155256 PMID:2495303 PMID:18407078 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040
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 More... NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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 More... NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
JBrowse link
Li-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Li-Campeau syndrome ClinVar PMID:33340455 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
JBrowse link
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 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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 OMIM:138800
OMIM
ClinVar
PMID:6261577 PMID:9295070 PMID:9345104 PMID:18570301 PMID:19556464 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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 More... NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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 More... NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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
RGD
PMID:1955520 PMID:7124278 PMID:7800007 PMID:7920658 PMID:8954020 More... RGD:8548658 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr10:12,714,137...12,715,568 JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17503324 NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
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 chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B
ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: Pendred's syndrome
ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
OMIM
ClinVar
CTD
RGD
PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 PMID:9070918 More... RGD:7421514, RGD:7421510, RGD:7411554 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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 More... NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730
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 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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 More... NCBI chr 1:255,315,870...255,350,161
Ensembl chr 1:255,315,915...255,350,160
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 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
JBrowse link
G Pcm1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Nonmedullary thyroid carcinoma 1 ClinVar PMID:10980597 PMID:25741868 NCBI chr16:51,008,315...51,105,261
Ensembl chr16:51,008,315...51,105,091
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 More... NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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: IODIDE PEROXIDASE DEFICIENCY
ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY
ClinVar Annotator: match by OMIM:274500
OMIM
ClinVar
PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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 More... NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319
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:25675383 PMID:25741868 PMID:28492532 More... NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
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 More... NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:thyroid gland: RGD PMID:20956945 RGD:41404697 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15887859 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
thyroid gland cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Thyroid cancer ClinVar PMID:28492532 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Thyroid cancer ClinVar PMID:25741868 PMID:26315354 PMID:26976419 PMID:28492532 NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
JBrowse link
G Cdh16 cadherin 16 ISO mRNA, protein:decreased expression:Thyroid RGD PMID:22028439 RGD:13792552 NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007
JBrowse link
G Mapk1 mitogen activated protein kinase 1 disease_progression ISO mRNA, protein:increased expression RGD PMID:28992617 RGD:13792721 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mir21 microRNA 21 ameliorates IMP RGD PMID:20956945 RGD:41404697 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:thyroid (mouse) RGD PMID:25246276 RGD:13825129 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Thyroid cancer ClinVar PMID:28492532 NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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 chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Thyroid carcinoma ClinVar PMID:2904651 PMID:3078962 PMID:7608256 PMID:7824936 PMID:7849700 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27440272 NCBI chr 4:178,185,418...178,218,484 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 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISS OMIM:188470 MouseDO NCBI chr 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730
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 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISS OMIM:188470 MouseDO NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:188470 MouseDO NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISS OMIM:188470 MouseDO NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27440272 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by OMIM:607464 OMIM
ClinVar
PMID:15841082 NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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 More... NCBI chr 4:178,185,418...178,218,484 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:7536460 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
thyroid gland papillary carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:19404735 PMID:20305132 PMID:25186627 PMID:25741868 PMID:26467025 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Begain brain-enriched guanylate kinase-associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:127,943,651...127,979,876
Ensembl chr 6:127,943,651...127,979,841
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
RGD
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... RGD:7241798, RGD:32716372 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Brd4 bromodomain containing 4 ISO mRNA, protein:increased expression:thyroid RGD PMID:26707881 RGD:11085509 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
JBrowse link
G Cat catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Ccdc6 coiled-coil domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr20:18,432,177...18,528,186
Ensembl chr20:18,433,695...18,528,658
JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:promoter RGD PMID:25520863 RGD:13792554 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Dio3 iodothyronine deiodinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:129,285,747...129,287,608
Ensembl chr 6:129,285,749...129,286,660
JBrowse link
G Dio3os DIO3 opposite strand upstream RNA ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation RGD PMID:32024448 RGD:150523759 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:25741868 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
JBrowse link
G Mir134 microRNA 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,748,908...128,748,980 JBrowse link
G Mir136 microRNA 136 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
JBrowse link
G Mir299b microRNA 299b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,723,635...128,723,752
Ensembl chr 6:128,723,635...128,723,752
JBrowse link
G Mir300 microRNA 300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,738,513...128,738,591
Ensembl chr 6:128,738,505...128,738,594
JBrowse link
G Mir323 microRNA 323 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,725,539...128,725,624
Ensembl chr 6:128,725,539...128,725,624
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
JBrowse link
G Mir3581 microRNA 3581 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Mir370 microRNA 370 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,572,257...128,572,335
Ensembl chr 6:128,572,257...128,572,335
JBrowse link
G Mir377 microRNA 377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,755,051...128,755,122 JBrowse link
G Mir381 microRNA 381 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,740,976...128,741,036 JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
JBrowse link
G Mir411 microRNA 411 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,723,189...128,723,264
Ensembl chr 6:128,723,184...128,723,279
JBrowse link
G Mir412 microRNA 412 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,757,932...128,758,001
Ensembl chr 6:128,757,926...128,758,005
JBrowse link
G Mir431 microRNA 431 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,544,210...128,544,323
Ensembl chr 6:128,544,210...128,544,323
JBrowse link
G Mir433 microRNA 433 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,545,119...128,545,211
Ensembl chr 6:128,545,112...128,545,217
JBrowse link
G Mir487b microRNA 487b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
JBrowse link
G Mir494 microRNA 494 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
JBrowse link
G Mir496 microRNA 496 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,753,644...128,753,722
Ensembl chr 6:128,753,644...128,753,722
JBrowse link
G Mir770 microRNA 770 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 6:128,515,843...128,515,918
Ensembl chr 6:128,515,835...128,515,928
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Nkx2-1