Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:thyroid gland disease
go back to main search page
Accession:DOID:50 term browser browse the term
Definition:An endocrine system disease that is located_in the thyroid. (DO)
Synonyms:exact_synonym: Thyroid Disease;   Thyroid Diseases
 related_synonym: ABNORMAL CIRCULATING THYROID HORMONE CONCENTRATION;   ABNORMAL THYROID HORMONE LEVEL
 primary_id: MESH:D013959
 xref: EFO:1000627;   ICD10CM:E07.9;   ICD9CM:246.9;   MP:0005468;   NCI:C26893;   OMIM:PS609698
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
thyroid gland disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CNST consortin, connexin sorting protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 1:246,566,456...246,668,595
Ensembl chr 1:246,566,444...246,668,595 		JBrowse link
G DIO1 iodothyronine deiodinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17105838 NCBI chr 1:53,894,187...53,911,086
Ensembl chr 1:53,891,239...53,911,086 		JBrowse link
G DIO2 iodothyronine deiodinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757 		JBrowse link
G DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration ClinVar PMID:25741868 PMID:28492532 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G GULP1 GULP PTB domain containing engulfment adaptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 2:188,291,874...188,595,926
Ensembl chr 2:188,291,669...188,595,931 		JBrowse link
G ID2 inhibitor of DNA binding 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 2:8,682,056...8,684,461
Ensembl chr 2:8,678,845...8,684,461 		JBrowse link
G ID3 inhibitor of DNA binding 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 1:23,557,926...23,559,501
Ensembl chr 1:23,557,926...23,559,501 		JBrowse link
G ITGB5 integrin subunit beta 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418 		JBrowse link
G KLF9 KLF transcription factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 9:70,384,604...70,414,657
Ensembl chr 9:70,384,604...70,414,657 		JBrowse link
G TBX3 T-box transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TGOLN2 trans-golgi network protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr 2:85,318,027...85,327,989
Ensembl chr 2:85,318,027...85,328,251 		JBrowse link
G ZNF676 zinc finger protein 676 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23397585 NCBI chr19:22,179,089...22,260,304
Ensembl chr19:22,179,089...22,215,801 		JBrowse link
Abnormal Thyroid Hormone Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SECISBP2 SECIS binding protein 2 IAGP
EXP		 ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16228000 PMID:19602558 PMID:24033266 PMID:25741868 PMID:29882503 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal 1 ClinVar PMID:26854926 PMID:34956927 NCBI chr19:45,478,601...45,478,687 JBrowse link
Abnormal Thyroid Hormone Metabolism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIO1 iodothyronine deiodinase 1 IAGP ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal, 2 OMIM
ClinVar		 PMID:32718224 NCBI chr 1:53,894,187...53,911,086
Ensembl chr 1:53,891,239...53,911,086 		JBrowse link
Abnormal Thyroid Hormone Metabolism 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal, 3 OMIM
ClinVar		 PMID:26854926 PMID:34956927 NCBI chr19:45,478,601...45,478,687 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 IAGP ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		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 IAGP DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:1680568 RGD:10058966 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP DNA:SNP:3' utr:6230G>A (rs3087243) (human)
ClinVar Annotator: match by term: Hashimoto thyroiditis
DNA:SNP: :-318C>T(rs11571302)(human)		 ClinVar
RGD		 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... RGD:2302003, RGD:7421515, RGD:1300386 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G FCRL3 Fc receptor like 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr 1:157,676,481...157,700,956
Ensembl chr 1:157,674,321...157,700,769 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB1 gap junction protein beta 1 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GJB2 gap junction protein beta 2 ISO mRNA,protein:decreased expression, altered expression:thyroid gland: RGD PMID:8770903 RGD:7349390 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12948297 RGD:2301816 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human) RGD PMID:20825955 RGD:5147571 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRA major histocompatibility complex, class II, DR alpha IMP RGD PMID:12126634 RGD:5147805 NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IMP
IAGP		 DNA:polymorphism (human) RGD PMID:21683551 PMID:12126634 PMID:20825955 RGD:5147557, RGD:5147805, RGD:5147571 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IFNG interferon gamma ISO mRNA:increased expression:thyroid: RGD PMID:10560963 RGD:10755769 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:thyroid gland RGD PMID:17046971 RGD:4841878 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9892610 RGD:8142396 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LRP2 LDL receptor related protein 2 IDA RGD PMID:10404822 RGD:1641847 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:polymorphism:exon:
associated with hepatitis C;DNA:SNP:exon:		 RGD PMID:22360648 PMID:19703233 RGD:8693703, RGD:14696815 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP DNA:missense mutation: cds: Arg60His RGD PMID:12189117 RGD:6483439 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP RGD PMID:22374238 RGD:6484667 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SLA Src like adaptor IAGP ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 ClinVar PMID:25741868 NCBI chr 8:133,036,728...133,102,602
Ensembl chr 8:133,036,728...133,102,912 		JBrowse link
G TG thyroglobulin ISO
IAGP
EXP		 ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3
ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:exon:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:8325944 PMID:9588493 PMID:10403171 PMID:10404833 PMID:11484898 More... RGD:5147557, RGD:8548629 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TLR3 toll like receptor 3 IEP protein:increased expression:thyroid gland (human) RGD PMID:15661832 RGD:5128798 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:17046971 RGD:4841878 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TSHR thyroid stimulating hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17952073 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G ZFAT zinc finger and AT-hook domain containing susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11440990 PMID:15294872 PMID:25741868 PMID:25741915 PMID:28940097 NCBI chr 8:134,477,788...134,832,339
Ensembl chr 8:134,477,788...134,713,049 		JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G FOXE1 forkhead box E1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,598,300...22,612,963
Ensembl chr14:22,598,290...22,612,963 		JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,058,564...23,095,614
Ensembl chr14:23,058,564...23,095,614 		JBrowse link
G ADCY4 adenylate cyclase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,318,359...24,335,071
Ensembl chr14:24,318,349...24,335,093 		JBrowse link
G AJUBA ajuba LIM protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,971,177...22,982,551
Ensembl chr14:22,971,177...22,982,551 		JBrowse link
G AKAP6 A-kinase anchoring protein 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684 		JBrowse link
G ANG angiogenin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,559,567...23,567,791
Ensembl chr14:23,559,565...23,568,070 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G ARF6 ADP ribosylation factor 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,893,082...49,897,054
Ensembl chr14:49,893,079...49,897,054 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,077,304...32,159,728
Ensembl chr14:32,076,114...32,159,728 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,061,264...21,090,248
Ensembl chr14:21,070,273...21,090,248 		JBrowse link
G BAZ1A bromodomain adjacent to zinc finger domain 1A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647 		JBrowse link
G BCL2L2 BCL2 like 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,751 		JBrowse link
G BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,306,833...23,326,163
Ensembl chr14:23,306,833...23,326,175 		JBrowse link
G BRMS1L BRMS1 like transcriptional repressor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,826,338...35,871,963
Ensembl chr14:35,826,338...35,932,325 		JBrowse link
G C14orf119 chromosome 14 open reading frame 119 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,095,505...23,100,456
Ensembl chr14:23,095,505...23,100,456 		JBrowse link
G C14orf28 chromosome 14 open reading frame 28 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,897,275...44,907,257
Ensembl chr14:44,897,275...44,907,257 		JBrowse link
G C14orf93 chromosome 14 open reading frame 93 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,985,894...23,010,143
Ensembl chr14:22,985,894...23,010,166 		JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,052,009...24,069,729
Ensembl chr14:24,052,009...24,069,729 		JBrowse link
G CBLN3 cerebellin 3 precursor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,426,545...24,429,668
Ensembl chr14:24,426,545...24,430,954 		JBrowse link
G CDH24 cadherin 24 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,047,067...23,057,520
Ensembl chr14:23,047,062...23,057,538 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256 		JBrowse link
G CFL2 cofilin 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHMP4A charged multivesicular body protein 4A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,209,615...24,213,488
Ensembl chr14:24,209,615...24,213,830 		JBrowse link
G CIDEB cell death inducing DFFA like effector b IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,305,187...24,311,435
Ensembl chr14:24,305,187...24,311,430 		JBrowse link
G CLEC14A C-type lectin domain containing 14A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:38,254,000...38,256,093
Ensembl chr14:38,254,000...38,256,093 		JBrowse link
G CMA1 chymase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265 		JBrowse link
G CMTM5 CKLF like MARVEL transmembrane domain containing 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,376,771...23,379,772
Ensembl chr14:23,376,773...23,379,772 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G CPNE6 copine 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,070,949...24,078,087
Ensembl chr14:24,070,837...24,078,100 		JBrowse link
G CTSG cathepsin G IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,573,518...24,576,250
Ensembl chr14:24,573,518...24,576,250 		JBrowse link
G DAD1 defender against cell death 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,564,907...22,589,224
Ensembl chr14:22,564,907...22,589,224 		JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,114,777...24,125,242
Ensembl chr14:24,114,195...24,125,242 		JBrowse link
G DHRS1 dehydrogenase/reductase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,290,598...24,299,780
Ensembl chr14:24,290,598...24,299,780 		JBrowse link
G DHRS2 dehydrogenase/reductase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,630,115...23,645,639
Ensembl chr14:23,630,115...23,645,639 		JBrowse link
G DHRS4 dehydrogenase/reductase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,953,770...23,969,279
Ensembl chr14:23,953,734...23,969,279 		JBrowse link
G DHRS4L1 dehydrogenase/reductase 4 like 1 (pseudogene) IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,007,084...24,051,377
Ensembl chr14:23,969,931...24,051,377
Ensembl chr14:23,969,931...24,051,377 		JBrowse link
G DHRS4L2 dehydrogenase/reductase 4 like 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,969,874...24,006,408
Ensembl chr14:23,969,874...24,006,408 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506 		JBrowse link
G EAPP E2F associated phosphoprotein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,515,938...34,539,701
Ensembl chr14:34,515,938...34,539,704 		JBrowse link
G EDDM3A epididymal protein 3A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,735,946...20,748,380
Ensembl chr14:20,745,887...20,748,380 		JBrowse link
G EDDM3B epididymal protein 3B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,768,404...20,770,948
Ensembl chr14:20,768,404...20,770,948 		JBrowse link
G EFS embryonal Fyn-associated substrate IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,356,406...23,365,172
Ensembl chr14:23,356,403...23,365,752 		JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:33,924,227...33,951,074
Ensembl chr14:33,924,227...34,462,774 		JBrowse link
G EMC9 ER membrane protein complex subunit 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,138,965...24,141,591
Ensembl chr14:24,138,959...24,141,591 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,044,907...35,083,383
Ensembl chr14:35,045,117...35,116,630 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO33 F-box protein 33 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,397,684...39,432,433
Ensembl chr14:39,397,684...39,432,466 		JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,130,659...24,132,847
Ensembl chr14:24,130,659...24,132,849 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,115,599...45,134,481
Ensembl chr14:45,115,599...45,135,319 		JBrowse link
G FOXA1 forkhead box A1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059 		JBrowse link
G FOXG1 forkhead box G1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FSCB fibrous sheath CABYR binding protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,504,149...44,507,283
Ensembl chr14:44,504,149...44,507,283 		JBrowse link
G G2E3 G2/M-phase specific E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,559,158...30,620,064
Ensembl chr14:30,559,158...30,620,064 		JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,114,323...39,136,973
Ensembl chr14:39,114,285...39,136,973 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,232,622...24,239,242
Ensembl chr14:24,232,422...24,239,242 		JBrowse link
G GPR33 G protein-coupled receptor 33 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039 		JBrowse link
G GZMB granzyme B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,630,954...24,634,190
Ensembl chr14:24,630,954...24,634,267 		JBrowse link
G GZMH granzyme H IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,606,480...24,609,685
Ensembl chr14:24,606,480...24,609,699 		JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,946,228...22,957,090
Ensembl chr14:22,946,228...22,957,161 		JBrowse link
G HEATR5A HEAT repeat containing 5A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550 		JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,100,117...31,207,793
Ensembl chr14:31,100,117...31,207,804 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494 		JBrowse link
G HOMEZ homeobox and leucine zipper encoding IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,272,422...23,286,132
Ensembl chr14:23,272,422...23,299,796 		JBrowse link
G IL25 interleukin 25 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,372,809...23,376,403
Ensembl chr14:23,372,809...23,376,403 		JBrowse link
G INSM2 INSM transcriptional repressor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,534,164...35,537,054
Ensembl chr14:35,534,164...35,537,054 		JBrowse link
G IPO4 importin 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,180,219...24,188,816
Ensembl chr14:24,180,219...24,188,869 		JBrowse link
G IRF9 interferon regulatory factor 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,161,265...24,166,565
Ensembl chr14:24,161,234...24,168,043 		JBrowse link
G JPH4 junctophilin 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,568,038...23,578,790
Ensembl chr14:23,568,038...23,578,790 		JBrowse link
G KHNYN KH and NYN domain containing IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,423,165...24,441,843
Ensembl chr14:24,429,286...24,441,843 		JBrowse link
G KLHDC1 kelch domain containing 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,693,120...49,753,150
Ensembl chr14:49,693,105...49,753,150 		JBrowse link
G KLHDC2 kelch domain containing 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,768,153...49,786,385
Ensembl chr14:49,768,130...49,786,385 		JBrowse link
G KLHL28 kelch like family member 28 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,924,324...44,961,947
Ensembl chr14:44,924,324...45,042,322 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G LINC01588 long intergenic non-protein coding RNA 1588 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,981,669...50,007,520
Ensembl chr14:49,927,571...50,105,102 		JBrowse link
G LINC01599 long intergenic non-protein coding RNA 1599 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,007,313...50,105,043
Ensembl chr14:49,927,571...50,105,102 		JBrowse link
G LRFN5 leucine rich repeat and fibronectin type III domain containing 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:41,606,876...41,904,549
Ensembl chr14:41,606,876...41,904,549 		JBrowse link
G LRP10 LDL receptor related protein 10 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,871,740...22,881,713
Ensembl chr14:22,871,740...22,881,713 		JBrowse link
G LRR1 leucine rich repeat protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,598,940...49,614,672
Ensembl chr14:49,598,761...49,614,672 		JBrowse link
G LTB4R leukotriene B4 receptor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,311,502...24,318,036
Ensembl chr14:24,311,450...24,318,036 		JBrowse link
G LTB4R2 leukotriene B4 receptor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,310,140...24,312,038
Ensembl chr14:24,305,734...24,312,053 		JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,298,564...36,320,637
Ensembl chr14:36,298,564...36,320,637 		JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:46,839,623...47,675,605
Ensembl chr14:46,840,092...47,675,605 		JBrowse link
G MDP1 magnesium dependent phosphatase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,213,943...24,216,066
Ensembl chr14:24,213,943...24,216,070 		JBrowse link
G METTL17 methyltransferase like 17 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,989,980...20,997,035
Ensembl chr14:20,989,973...20,997,035 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,498,138...21,511,340
Ensembl chr14:21,498,133...21,511,342 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MIA2 MIA SH3 domain ER export factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,233,915...39,388,522
Ensembl chr14:39,230,231...39,388,513 		JBrowse link
G MIPOL1 mirror-image polydactyly 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,197,937...37,552,361
Ensembl chr14:37,197,894...37,579,125 		JBrowse link
G MIR208A microRNA 208a IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,388,596...23,388,666
Ensembl chr14:23,388,596...23,388,666 		JBrowse link
G MIR208B microRNA 208b IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,417,987...23,418,063
Ensembl chr14:23,417,987...23,418,063 		JBrowse link
G MIS18BP1 MIS18 binding protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,203,190...45,253,202
Ensembl chr14:45,203,190...45,253,540 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,829,887...22,835,037
Ensembl chr14:22,829,879...22,835,037 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NDRG2 NDRG family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,016,763...21,070,872
Ensembl chr14:21,016,763...21,070,872 		JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,216,857...24,232,367
Ensembl chr14:24,216,857...24,232,367 		JBrowse link
G NEDD8-MDP1 NEDD8-MDP1 readthrough IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,213,943...24,232,367
Ensembl chr14:24,213,955...24,232,352 		JBrowse link
G NEMF nuclear export mediator factor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,782,083...49,852,788
Ensembl chr14:49,782,083...49,852,821 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,366,911...24,379,604
Ensembl chr14:24,365,673...24,379,604 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NGDN neuroguidin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,469,703...23,478,826
Ensembl chr14:23,469,679...23,509,862 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP
EXP		 DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
CTD Direct Evidence: marker/mechanism
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)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... RGD:12914768, RGD:12914770, RGD:11073166, RGD:12914769 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NKX2-1-AS1 NKX2-1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:36,519,278...36,523,016
Ensembl chr14:36,519,278...36,523,016 		JBrowse link
G NKX2-8 NK2 homeobox 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,580,004...36,582,614
Ensembl chr14:36,580,004...36,582,614 		JBrowse link
G NOP9 NOP9 nucleolar protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,271,203...24,309,124
Ensembl chr14:24,299,850...24,309,124 		JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:26,443,090...26,598,033
Ensembl chr14:26,443,090...26,598,033 		JBrowse link
G NPAS3 neuronal PAS domain protein 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,934,785...33,804,173
Ensembl chr14:32,934,396...33,820,863 		JBrowse link
G NRL neural retina leucine zipper IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,399,003...24,419,283
Ensembl chr14:24,399,003...24,419,283 		JBrowse link
G OR10G2 olfactory receptor family 10 subfamily G member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,633,836...21,634,940
Ensembl chr14:21,633,836...21,634,940 		JBrowse link
G OR10G3 olfactory receptor family 10 subfamily G member 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,568,520...21,580,076
Ensembl chr14:21,568,520...21,580,076 		JBrowse link
G OR4E2 olfactory receptor family 4 subfamily E member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,653,835...21,667,642
Ensembl chr14:21,653,835...21,667,642 		JBrowse link
G OR5AU1 olfactory receptor family 5 subfamily AU member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,154,865...21,156,063
Ensembl chr14:21,148,370...21,159,060 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,766,688...22,773,042
Ensembl chr14:22,766,522...22,773,042 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163 		JBrowse link
G PAX9 paired box 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598 		JBrowse link
G PNN pinin, desmosome associated protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,175,254...39,183,220
Ensembl chr14:39,175,183...39,183,220 		JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,643,555...49,688,214
Ensembl chr14:49,643,555...49,688,422 		JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,295,652...23,302,859
Ensembl chr14:23,295,652...23,302,859 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRKD1 protein kinase D1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,084,116...45,116,282
Ensembl chr14:45,084,107...45,116,282 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493 		JBrowse link
G PSMB11 proteasome subunit beta 11 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,042,212...23,044,060
Ensembl chr14:23,042,212...23,044,060 		JBrowse link
G PSMB5 proteasome 20S subunit beta 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,025,851...23,035,220
Ensembl chr14:23,016,543...23,035,230 		JBrowse link
G PSME1 proteasome activator subunit 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967 		JBrowse link
G PSME2 proteasome activator subunit 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,143,365...24,146,610
Ensembl chr14:24,143,362...24,147,570 		JBrowse link
G PTCSC3 papillary thyroid carcinoma susceptibility candidate 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,134,890...36,176,722
Ensembl chr14:36,130,677...36,217,284 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,459,020...21,476,959
Ensembl chr14:21,459,020...21,476,960 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,265,538...24,271,627
Ensembl chr14:24,265,538...24,271,611 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
G RBM23 RNA binding motif protein 23 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,893,204...22,919,149
Ensembl chr14:22,893,204...22,919,182 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G REM2 RRAD and GEM like GTPase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,883,222...22,887,678
Ensembl chr14:22,883,222...22,887,678 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022 		JBrowse link
G RN7SL1 RNA component of signal recognition particle 7SL1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,586,580...49,586,878
Ensembl chr14:49,586,580...49,586,878 		JBrowse link
G RN7SL2 RNA component of signal recognition particle 7SL2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,862,551...49,862,849
Ensembl chr14:49,862,550...49,862,849 		JBrowse link
G RN7SL3 RNA component of signal recognition particle 7SL3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,853,616...49,853,914
Ensembl chr14:49,853,616...49,853,914 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,801,228...20,802,844
Ensembl chr14:20,801,228...20,802,855 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,032,818...21,034,807
Ensembl chr14:21,032,818...21,034,807 		JBrowse link
G RNASE2 ribonuclease A family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,955,487...20,956,436
Ensembl chr14:20,955,487...20,956,436 		JBrowse link
G RNASE3 ribonuclease A family member 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348 		JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216 		JBrowse link
G RNASE6 ribonuclease A family member k6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,781,070...20,782,467
Ensembl chr14:20,781,268...20,782,467 		JBrowse link
G RNASE7 ribonuclease A family member 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,042,362...21,044,233
Ensembl chr14:21,042,316...21,044,234 		JBrowse link
G RNASE8 ribonuclease A family member 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,057,822...21,058,455
Ensembl chr14:21,057,822...21,058,455 		JBrowse link
G RNF212B ring finger protein 212B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,185,336...23,273,477
Ensembl chr14:23,185,316...23,273,477 		JBrowse link
G RNF31 ring finger protein 31 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,146,875...24,160,655
Ensembl chr14:24,146,683...24,160,660 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G RPL36AL ribosomal protein L36a like IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,618,530...49,620,626
Ensembl chr14:49,618,530...49,620,626 		JBrowse link
G RPS29 ribosomal protein S29 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G SALL2 spalt like transcription factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,521,080...21,537,121
Ensembl chr14:21,521,080...21,537,216 		JBrowse link
G SCFD1 sec1 family domain containing 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,622,254...30,735,850
Ensembl chr14:30,622,291...30,737,694 		JBrowse link
G SDR39U1 short chain dehydrogenase/reductase family 39U member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,439,766...24,442,843
Ensembl chr14:24,439,766...24,442,905 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress		 ClinVar PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,288...36,513,829
Ensembl chr14:36,473,288...36,513,829 		JBrowse link
G SLC22A17 solute carrier family 22 member 17 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,346,311...23,352,887
Ensembl chr14:23,346,314...23,352,912 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,999,293...21,001,871
Ensembl chr14:20,999,255...21,001,871 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,125,295...23,183,660
Ensembl chr14:23,125,295...23,183,674 		JBrowse link
G SNX6 sorting nexin 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,561,093...34,630,148
Ensembl chr14:34,561,093...34,630,160 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240 		JBrowse link
G SRP54 signal recognition particle 54 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SSTR1 somatostatin receptor 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:38,207,904...38,213,067
Ensembl chr14:38,207,904...38,213,067 		JBrowse link
G STRN3 striatin 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,893,804...31,026,379
Ensembl chr14:30,893,799...31,026,401 		JBrowse link
G STXBP6 syntaxin binding protein 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,809,454...25,050,147
Ensembl chr14:24,809,454...25,050,147 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G TGM1 transglutaminase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G THTPA thiamine triphosphatase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,511,760...23,560,271
Ensembl chr14:23,555,988...23,560,271 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,189,149...24,195,441
Ensembl chr14:24,189,149...24,195,687 		JBrowse link
G TMEM253 transmembrane protein 253 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,098,836...21,103,724
Ensembl chr14:21,098,811...21,103,724 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TOX4 TOX high mobility group box family member 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,477,195...21,499,170
Ensembl chr14:21,476,597...21,499,175 		JBrowse link
G TPPP2 tubulin polymerization promoting protein family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,024,299...21,036,352
Ensembl chr14:21,024,109...21,036,276 		JBrowse link
G TRA T cell receptor alpha locus IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,621,904...22,552,132 JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532 		JBrowse link
G TSSK4 testis specific serine kinase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,205,696...24,208,248
Ensembl chr14:24,205,696...24,208,362 		JBrowse link
G TTC6 tetratricopeptide repeat domain 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,595,629...37,842,717
Ensembl chr14:37,595,629...38,041,442 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,102,716...50,116,572
Ensembl chr14:50,108,632...50,116,600 		JBrowse link
G ZFHX2 zinc finger homeobox 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,520,857...23,555,952
Ensembl chr14:23,520,857...23,556,192 		JBrowse link
G ZNF219 zinc finger protein 219 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,090,077...21,104,722
Ensembl chr14:21,090,077...21,104,722 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome		 ClinVar
OMIM		 PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 More... NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		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 IAGP DNA:polymorphism:cds:+874A>T(human) RGD PMID:16970687 RGD:8157599 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		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 ISO protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		JBrowse link
G ATP5PD ATP synthase peripheral stalk subunit d ISO protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr17:75,038,863...75,046,969
Ensembl chr17:75,038,863...75,046,985 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G DUOX2 dual oxidase 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 More... RGD:734905 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:23079472 RGD:10395304 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G FOXE1 forkhead box E1 ISS MouseDO NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GH1 growth hormone 1 treatment ISO RGD PMID:21162131 RGD:10003146 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor treatment ISO RGD PMID:21162131 RGD:10003146 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G INHBB inhibin subunit beta B ISO mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr 2:120,346,136...120,351,803
Ensembl chr 2:120,346,136...120,351,803 		JBrowse link
G IYD iodotyrosine deiodinase IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G LOC126806316 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113998497-113999696 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:26362610 NCBI chr 2:113,240,920...113,242,119 JBrowse link
G NEFH neurofilament heavy chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NEFM neurofilament medium chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098 		JBrowse link
G NGFR nerve growth factor receptor treatment ISO RGD PMID:23312094 RGD:10414076 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008 		JBrowse link
G PAX8 paired box 8 IAGP
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 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G PAX8-AS1 PAX8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:16763387 PMID:25146893 PMID:26362610 NCBI chr 2:113,235,527...113,267,023
Ensembl chr 2:113,211,421...113,276,581 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A7 solute carrier family 26 member 7 IAGP
ISS		 ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
MouseDO		 PMID:31372509 NCBI chr 8:91,209,496...91,398,155
Ensembl chr 8:91,209,494...91,398,155 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P
ClinVar Annotator: match by term: Congenital hypothyroidism		 ClinVar
RGD		 PMID:3998954 PMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749 More... RGD:1624273 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G TG thyroglobulin ISS
IAGP		 ClinVar Annotator: match by term: Congenital hypothyroidism MouseDO
ClinVar		 PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 More... NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TPO thyroid peroxidase IAGP
ISS
EXP		 total iodide organification defect, OMIM:274500
ClinVar Annotator: match by term: Congenital hypothyroidism
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868 More... RGD:1599648 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TRHR thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G TSHR thyroid stimulating hormone receptor EXP
IAGP
ISS
ISO		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism		 CTD
ClinVar
MouseDO
RGD		 PMID:11442002 PMID:12629076 PMID:15693879 PMID:16756469 PMID:17526952 More... RGD:150521601 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G TUBB1 tubulin beta 1 class VI IAGP ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 More... NCBI chr20:59,016,438...59,026,654
Ensembl chr20:59,019,429...59,026,654 		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 IAGP ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr14:80,476,969...80,959,502
Ensembl chr14:80,476,983...80,959,517 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G TPO thyroid peroxidase IAGP ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TSHR thyroid stimulating hormone receptor treatment IAGP
ISO		 ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: TSH RESISTANCE		 ClinVar
RGD		 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... RGD:150521601 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP128 centrosomal protein 128 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr14:80,476,969...80,959,502
Ensembl chr14:80,476,983...80,959,517 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		JBrowse link
G TPO thyroid peroxidase IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP
EXP		 ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO31 F-box protein 31 IAGP ClinVar Annotator: match by term: Ectopic thyroid ClinVar PMID:32989326 PMID:33675180 NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142 		JBrowse link
G LOC108281110 PAX8 promoter region IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar NCBI chr 2:113,278,394...113,279,523 JBrowse link
G LOC126806316 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113998497-113999696 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:113,240,920...113,242,119 JBrowse link
G PAX8 paired box 8 IAGP
EXP		 ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 More... NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G PAX8-AS1 PAX8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar PMID:9590296 PMID:11232006 PMID:11502839 PMID:15356023 PMID:15718293 More... NCBI chr 2:113,235,527...113,267,023
Ensembl chr 2:113,211,421...113,276,581 		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 IAGP
EXP		 ClinVar Annotator: match by term: Pituitary cretinism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		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 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809 PMID:25741868 PMID:34008892 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589 		JBrowse link
G THRA thyroid hormone receptor alpha IAGP
EXP		 ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 More... NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		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 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 OMIM
ClinVar		 PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		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 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 OMIM
ClinVar		 PMID:25741868 PMID:27603907 PMID:30591955 NCBI chr  X:9,463,295...9,719,740
Ensembl chr  X:9,463,320...9,741,037 		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 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 OMIM
ClinVar		 PMID:25741868 PMID:30061370 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563 		JBrowse link
dystransthyretinemic hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTR transthyretin IAGP
EXP		 ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic
ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1358785 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		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 ISO associated with congestive heart failure RGD PMID:27737323 RGD:13782084 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093 		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 IDA
IAGP
EXP
IEP		 ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic
ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:683332 PMID:1859851 PMID:1946412 PMID:2104980 PMID:2226433 More... RGD:11035290, RGD:11035292 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G LOC111832671 albumin (ALB) 5' regulatory region IAGP ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic ClinVar NCBI chr 4:73,397,685...73,404,342 JBrowse link
familial gestational hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP128 centrosomal protein 128 IAGP ClinVar Annotator: match by term: Familial gestational hyperthyroidism ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr14:80,476,969...80,959,502
Ensembl chr14:80,476,983...80,959,517 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP
EXP		 ClinVar Annotator: match by term: Familial gestational hyperthyroidism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		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 IAGP ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar NCBI chr 1:156,840,063...156,859,117
Ensembl chr 1:156,840,063...156,859,117 		JBrowse link
G LOC106736614 RET 5' regulatory region IAGP ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar PMID:24033266 PMID:25741868 NCBI chr10:43,072,914...43,077,291 JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary		 ClinVar PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 More... NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G PRLR prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G RET ret proto-oncogene IAGP
EXP		 ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		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 IAGP ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16322276 PMID:18765513 PMID:20972728 PMID:21565790 More... NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 IAGP ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G TG thyroglobulin IAGP ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar PMID:28492532 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		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 IAGP ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 ClinVar PMID:12068308 PMID:12198537 PMID:12960123 PMID:14679157 PMID:15035987 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CBX7 chromobox 7 IEP protein:decreased expression:thyroid gland: RGD PMID:18701502 RGD:9587357 NCBI chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680 		JBrowse link
G CGA glycoprotein hormones, alpha polypeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP
EXP		 ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2
ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12727991 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP 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 chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP
EXP		 ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11297621 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP
EXP		 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 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PAX8 paired box 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15785241 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:15785241 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 ClinVar NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23539728 PMID:25741868 PMID:28492532 NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217 		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 LOC126806630 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636 IAGP ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant ClinVar PMID:1324420 PMID:8013151 PMID:8563471 PMID:8664910 PMID:9141558 More... NCBI chr 3:24,142,946...24,144,145 JBrowse link
G THRB thyroid hormone receptor beta IAGP
EXP		 ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1159077 PMID:1314846 PMID:1324420 PMID:1358935 PMID:1400869 More... NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G THRB-AS1 THRB antisense RNA 1 IAGP ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant ClinVar NCBI chr 3:24,494,087...24,500,011
Ensembl chr 3:24,494,087...24,681,711 		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 IAGP
EXP		 ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1653889 PMID:1682340 PMID:1991834 PMID:4163616 PMID:8013151 More... NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16306076 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
EXP		 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 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G TEK TEK receptor tyrosine kinase ISO mRNA:increased expression:thyroid RGD PMID:11397875 RGD:1601510 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174 		JBrowse link
G TG thyroglobulin susceptibility IAGP
EXP		 associated with Hypothyroidism;DNA:deletion:exon
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8094490 PMID:24582622 PMID:1752952 RGD:1600141 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TPO thyroid peroxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12564727 PMID:14751036 PMID:17547680 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
Graves ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase treatment IEP protein:decreased activity:blood:
protein:increased activity:plasma:		 RGD PMID:20394549 PMID:15158621 RGD:9071200, RGD:9086875 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 severity
no_association		 IAGP
IEP		 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 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IAGP DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFNG interferon gamma IEP RGD PMID:8444271 RGD:7794734 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGF1 insulin like growth factor 1 IEP mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL10 interleukin 10 IAGP
IEP		 DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum		 RGD PMID:21067483 PMID:11753760 RGD:7364859, RGD:7365083 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL18 interleukin 18 treatment IEP RGD PMID:12689659 RGD:8655878 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1A interleukin 1 alpha IEP RGD PMID:8444271 RGD:7794734 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity
susceptibility		 IEP
IAGP		 protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human)		 RGD PMID:12186498 PMID:19702713 RGD:7387296, RGD:8549808 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 IDA RGD PMID:2786308 RGD:8662939 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL23R interleukin 23 receptor no_association
susceptibility		 IAGP DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)		 RGD PMID:22663548 PMID:18073300 RGD:7421521, RGD:8549554 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL3 interleukin 3 IAGP DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204 		JBrowse link
G KIF1A kinesin family member 1A IEP RGD PMID:26451909 RGD:12911230 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IEP mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) RGD PMID:17608818 RGD:7829763 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SCD stearoyl-CoA desaturase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826 		JBrowse link
G SERPINE1 serpin family E member 1 severity IEP associated with Graves Disease;protein:increased expression:tears (human) RGD PMID:22385289 RGD:8547756 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP
IEP		 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 chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TSHR thyroid stimulating hormone receptor severity IAGP
EXP
IDA		 DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:31705858 PMID:22673349 PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		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 IEP protein:increased expression:serum
associated with thyroid diseases; protein:increased expression:serum		 RGD PMID:18997483 PMID:20583542 RGD:5686818, RGD:5686857 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility IAGP DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) RGD PMID:17143563 RGD:8548467 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G ARID5B AT-rich interaction domain 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr10:61,901,699...62,096,944
Ensembl chr10:61,901,684...62,096,944 		JBrowse link
G B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 2:62,196,115...62,224,731
Ensembl chr 2:62,196,115...62,224,731 		JBrowse link
G BTNL2 butyrophilin like 2 onset IAGP DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP RGD PMID:21943165 RGD:5688264 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP RGD PMID:21943165 RGD:5688264 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CAT catalase treatment IEP protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CD4 CD4 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G CD40 CD40 molecule onset
no_association		 IAGP DNA:SNP:5' utr:-1C>T (human) RGD PMID:12593727 PMID:18755875 PMID:15307939 RGD:8547766, RGD:8547778, RGD:8547769 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand treatment IMP RGD PMID:8875745 RGD:8547747 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
no_association		 IAGP
EXP		 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:9672157 PMID:10404810 More... RGD:2302001, RGD:11352245, RGD:7421517, RGD:7421515, RGD:7421507, RGD:7421505, RGD:1300388, RGD:2302000 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DNMT1 DNA methyltransferase 1 treatment IAGP DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G ESR2 estrogen receptor 2 susceptibility
no_association		 IAGP DNA:snp:intron:IVS8G>A (rs4986938) (human)
DNA:repeat		 RGD PMID:17941906 PMID:11180758 RGD:8693348, RGD:10045850 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FCRL3 Fc receptor like 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:157,676,481...157,700,956
Ensembl chr 1:157,674,321...157,700,769 		JBrowse link
G FKBP1B FKBP prolyl isomerase 1B IAGP RGD PMID:15497458 RGD:1580387 NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681 		JBrowse link
G GC GC vitamin D binding protein susceptibility IAGP
EXP		 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 chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility
onset		 IAGP DNA:polymorphism:cds:HLA-B*46 (human)
DNA:polymorphism:cds:HLA-B39 (human)
DNA:polymorphism:cds:HLA-B8 (human)
DNA:polymorphism, haplotype:cds:HLA-B8 (human)
DNA:polymorphism, 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 chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms::HLA-DQA1*0501; RGD PMID:8706297 RGD:8547558 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP 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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP 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 chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HLA-DRB3 major histocompatibility complex, class II, DR beta 3 IAGP RGD PMID:11678832 RGD:8548807
G ICAM1 intercellular adhesion molecule 1 no_association
onset		 IEP
IAGP		 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 chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFNG interferon gamma susceptibility
treatment		 IAGP
EXP
ISO
IEP		 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 chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGF1 insulin like growth factor 1 IEP mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IEP protein: increased expression: blood: T cells and B cells RGD PMID:18832736 RGD:5686433 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IL10 interleukin 10 no_association IAGP
IEP		 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 chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL13 interleukin 13 disease_progression
susceptibility		 IAGP 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 chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17A interleukin 17A susceptibility IAGP
EXP		 DNA:snp:intron:IVS1+18G>A (rs3819025) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:33132244 PMID:22816799 RGD:9068423 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL18 interleukin 18 no_association IEP
IAGP		 protein:increased expression:serum
DNA:SNPs:promoter, exon:multiple		 RGD PMID:12689659 PMID:16571086 RGD:8655878, RGD:8655916 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1B interleukin 1 beta IAGP
IEP		 DNA:SNP:promoter:-511C>T (human) RGD PMID:16025481 PMID:2674184 RGD:7401177, RGD:7401207 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL2 interleukin 2 IDA RGD PMID:2279527 RGD:8662947 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL23R interleukin 23 receptor susceptibility
no_association		 IAGP DNA:SNP: :rs7530511(human)
DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)		 RGD PMID:18073300 PMID:19021011 RGD:8549554, RGD:8549564 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL3 interleukin 3 IAGP DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204 		JBrowse link
G IL4 interleukin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 disease_progression IAGP
EXP
IEP		 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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6R interleukin 6 receptor disease_progression IEP
EXP		 protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16372246 PMID:12818091 RGD:7829750 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G ITGB3 integrin subunit beta 3 IEP RGD PMID:23109646 RGD:8693341 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LTA lymphotoxin alpha no_association IAGP DNA:polymorphism RGD PMID:1346144 PMID:7928443 RGD:8548778, RGD:8548790 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase IAGP DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:21465496 RGD:8657376 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G PDCD1 programmed cell death 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP
EXP		 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 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RNASET2 ribonuclease T2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191 		JBrowse link
G SERPINE1 serpin family E member 1 treatment IDA
IEP		 protein:increased expression:tears (human) RGD PMID:11980614 PMID:22385289 RGD:8547709, RGD:8547756 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G TG thyroglobulin treatment
no_association		 IDA
EXP
IEP
IAGP		 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 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP 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 chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G TP53 tumor protein p53 susceptibility IAGP DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TPO thyroid peroxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G TSHR thyroid stimulating hormone receptor no_association
treatment		 IAGP
EXP
IMP
IDA
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
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 chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G VDR vitamin D receptor no_association IEA
IAGP		 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 chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A IAGP DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) RGD PMID:22771446 RGD:7483621 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		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 IAGP DNA:SNP: :rs3733197(human) RGD PMID:24127308 RGD:9684981 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G C1S complement C1s EXP CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G CAT catalase IEP protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CD40 CD40 molecule IEP protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:serum RGD PMID:17558708 RGD:8547767 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP
EXP		 DNA:SNP:cds:+49A/G (rs231775)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hashimoto Disease		 OMIM
CTD
ClinVar
RGD		 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... RGD:7421513 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G ESR2 estrogen receptor 2 no_association IAGP DNA:repeat RGD PMID:11180758 RGD:10045850 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G FAS Fas cell surface death receptor severity IEP protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) RGD PMID:15242568 RGD:8662824 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism (human) RGD PMID:19254248 RGD:5147613 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP 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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms (human) RGD PMID:19254248 RGD:5147613 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IEP protein:increased expression:throcyte: RGD PMID:9161695 RGD:12910543 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum RGD PMID:7626551 RGD:8547592 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFNG interferon gamma severity IAGP DNA:polymorphism:cds:+874A>T(human) RGD PMID:16820703 RGD:8142375 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL6 interleukin 6 IAGP
EXP		 DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16372246 PMID:21235536 RGD:7829719 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6R interleukin 6 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:polymorphism:exon: RGD PMID:22360648 RGD:8693703 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IEP RGD PMID:19924240 RGD:6483332 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA: snp: cds: rs2476601 RGD PMID:15719322 RGD:6484548 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G TG thyroglobulin no_association IDA
EXP
ISO
IAGP
IMP		 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 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP DNA:SNP:intron:rs3783938 (human) RGD PMID:22673349 RGD:8548662 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		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 IAGP ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning ClinVar PMID:7800007 PMID:8413627 PMID:9253356 PMID:9360556 PMID:9398746 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		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 ISO RGD PMID:17161219 RGD:1599133 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ANXA1 annexin A1 ISO RGD PMID:9022675 RGD:2306952 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393 		JBrowse link
G ANXA2 annexin A2 ISO protein:decreased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883 		JBrowse link
G ANXA5 annexin A5 ISO protein:decreased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:1466661 RGD:1599158 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA2 apolipoprotein A2 ISO RGD PMID:1466661 RGD:1599158 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631 		JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:8429259 RGD:1599190 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G AQP1 aquaporin 1 (Colton blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:12621104 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517 		JBrowse link
G BDH1 3-hydroxybutyrate dehydrogenase 1 ISO protein:decreased activity:liver, mitochondrion (rat) RGD PMID:3422549 RGD:4105460 NCBI chr 3:197,509,783...197,573,343
Ensembl chr 3:197,509,783...197,573,323 		JBrowse link
G CAB39 calcium binding protein 39 ISO mRNA,protein:increased expression:muscle: RGD PMID:18669938 RGD:10059691 NCBI chr 2:230,712,842...230,821,075
Ensembl chr 2:230,712,842...230,821,075 		JBrowse link
G CARTPT CART prepropeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:12395121 NCBI chr 5:71,719,275...71,721,045
Ensembl chr 5:71,719,275...71,721,048 		JBrowse link
G CAT catalase ISO
EXP		 mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23391542 PMID:19914224 RGD:9068475 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:16756463 RGD:8547761 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ClinVar Annotator: match by term: Primary hyperthyroidism ClinVar PMID:3328816 PMID:21289244 PMID:25741868 PMID:26762354 PMID:26989398 More... NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CP ceruloplasmin ISO protein:increased expression:serum RGD PMID:18210749 RGD:2314689 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CS citrate synthase ISO RGD PMID:15817832 RGD:243048477 NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391 		JBrowse link
G CTSL cathepsin L ISO mRNA:increased expression:extensor digitorum longus (rat) RGD PMID:19777444 RGD:2315547 NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,724,051...87,731,469 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19914224 PMID:19914224 RGD:9068475 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GSR glutathione-disulfide reductase treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19914224 PMID:25242845 RGD:10401891 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human) RGD PMID:17194971 RGD:7421571 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:23623788 RGD:10755742 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:increased expression:myocardium RGD PMID:17447016 RGD:2311524 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IL10 interleukin 10 ISO associated with Graves Disease RGD PMID:21474590 PMID:24534949 RGD:7364857, RGD:11049472 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 ISO RGD PMID:17394799 RGD:2317698 NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO protein:increased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:1315530 RGD:10448989 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:decreased expression:paraventricular nucleus, median eminence (rat)
mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat)		 RGD PMID:16497799 PMID:15291740 RGD:1601276, RGD:2308889 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14678291 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:increased expression:soleus muscle (rat) RGD PMID:18669938 RGD:10059691 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PTH parathyroid hormone IAGP ClinVar Annotator: match by term: Primary hyperthyroidism ClinVar PMID:1425431 PMID:18784115 PMID:25741868 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G SERPINA7 serpin family A member 7 ISO protein:decreased expression:serum (rat) RGD PMID:2505856 RGD:1600139 NCBI chr  X:106,032,435...106,038,727
Ensembl chr  X:106,032,435...106,038,727 		JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:plasma (human) RGD PMID:14512089 RGD:8547758 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO protein:increased expression:renal cortex, brush border membrane (rat) RGD PMID:10098486 RGD:7243131 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO protein:increased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G SOD1 superoxide dismutase 1 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19914224 PMID:22476324 RGD:8655984 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19914224 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G STK11 serine/threonine kinase 11 ISO mRNA,protein:increased expression:muscle: RGD PMID:18669938 RGD:10059691 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TSHR thyroid stimulating hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:7800007 PMID:8413627 PMID:8964822 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G UCP3 uncoupling protein 3 ISO protein:increased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085 		JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 ISO mRNA:increased expression:hepatocyte RGD PMID:14620509 RGD:1600445 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300 		JBrowse link
G VIM vimentin ISO protein:increased expression, hyperphosphorylation:testis RGD PMID:17306450 RGD:6480446 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
hyperthyroxinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin susceptibility IAGP RGD PMID:8048949 RGD:1599027 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G DIO1 iodothyronine deiodinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:3346351 NCBI chr 1:53,894,187...53,911,086
Ensembl chr 1:53,891,239...53,911,086 		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 chr12:39,531,025...39,619,803
Ensembl chr12:39,550,033...39,619,803 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO mRNA,protein:decreased expression:brown adipose tissue, heart: RGD PMID:1651697 RGD:8548533 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:blood (rat) RGD PMID:17720948 RGD:4144163 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G ANXA1 annexin A1 ISO RGD PMID:9022675 RGD:2306952 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393 		JBrowse link
G ANXA2 annexin A2 ISO protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883 		JBrowse link
G ANXA5 annexin A5 ISO protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G APOA5 apolipoprotein A5 ISO protein:decreased expression:liver RGD PMID:15941710 RGD:1601661 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420 		JBrowse link
G APOC3 apolipoprotein C3 ISO RGD PMID:8429259 RGD:1599190 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G APOE apolipoprotein E ISO protein:increased expression:plasma, high-density lipoprotein particle (rat) RGD PMID:6816881 RGD:12904658 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G AQP3 aquaporin 3 (Gill blood group) ISO RGD PMID:12595491 RGD:704374 NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596 		JBrowse link
G ARSA arylsulfatase A ISO RGD PMID:7901316 RGD:1599223 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO mRNA:decreased expression:heart left ventricle RGD PMID:21217071 RGD:6904140 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093 		JBrowse link
G ATP5PO ATP synthase peripheral stalk subunit OSCP treatment ISO protein:decreased expression:liver, mitochondrion (rat) RGD PMID:19878644 PMID:9733093 RGD:13830874, RGD:13838730 NCBI chr21:33,903,453...33,915,804
Ensembl chr21:33,903,453...33,915,814 		JBrowse link
G BAD BCL2 associated agonist of cell death ISO RGD PMID:22513421 RGD:10053713 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704 		JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:20600205 RGD:4891132 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G CAT catalase treatment ISO RGD PMID:29896255 RGD:38549578 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CAV1 caveolin 1 ISO protein:increased expression:cerebellum RGD PMID:21611807 RGD:6784532 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 ISO RGD PMID:22987596 RGD:13782376 NCBI chr17:32,486,993...32,491,253
Ensembl chr17:32,486,993...32,491,253 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO mRNA:increased expression:heart ventricle RGD PMID:8745212 RGD:7257542 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain treatment ISO RGD PMID:17310101 RGD:8661259 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CR1 complement C3b/C4b receptor 1 (Knops blood group) IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 1:207,496,157...207,641,765
Ensembl chr 1:207,496,147...207,641,765 		JBrowse link
G CS citrate synthase ISO RGD PMID:15817832 PMID:29748131 RGD:243048477, RGD:243048482 NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO mRNA:increased expression:ovary (rat) RGD PMID:20149258 RGD:4890368 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DCX doublecortin ISO protein:altered expression:cerebellum RGD PMID:22595232 RGD:12904757 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DPYSL2 dihydropyrimidinase like 2 ISO mRNA, protein:increased expression:thyroid gland RGD PMID:11694350 RGD:2316251 NCBI chr 8:26,514,031...26,658,175
Ensembl chr 8:26,514,031...26,658,178 		JBrowse link
G ELAVL4 ELAV like RNA binding protein 4 ISO mRNA,protein:increased expression:brain: RGD PMID:12859688 RGD:1579855 NCBI chr 1:50,048,055...50,203,772
Ensembl chr 1:50,024,029...50,203,772 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO mRNA,protein:increased expression,increased activity:hippocampus: RGD PMID:15811553 RGD:9685476 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266 		JBrowse link
G F7 coagulation factor VII ISO protein:increased expression:plasma (rat) RGD PMID:989968 RGD:2312322 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G FOXP3 forkhead box P3 treatment ISO RGD PMID:29896255 RGD:38549578 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GIP gastric inhibitory polypeptide ISO protein:increased expression:plasma (rat) RGD PMID:9030821 RGD:2312549 NCBI chr17:48,958,554...48,968,596
Ensembl chr17:48,958,554...48,968,596 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:22733496 RGD:7257534 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GRK3 G protein-coupled receptor kinase 3 ISO mRNA:increased expression:heart (rat) RGD PMID:19728039 RGD:5685027 NCBI chr22:25,564,675...25,729,294
Ensembl chr22:25,564,675...25,729,294 		JBrowse link
G GSN gelsolin ISO Protein:increased expression:cochlea RGD PMID:2848627 RGD:1599872 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human) RGD PMID:17588142 RGD:5147628 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:17588142 RGD:5147628 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G IFNG interferon gamma treatment ISO RGD PMID:29896255 RGD:38549578 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum (rat) RGD PMID:1380443 RGD:12910458 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO RGD PMID:11834454 RGD:1626512 NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:24534949 PMID:29896255 RGD:11049472, RGD:38549578 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:29896255 RGD:38549578 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G ISL1 ISL LIM homeobox 1 susceptibility ISO RGD PMID:26296153 RGD:11353031 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO mRNA,protein:increased expression: cerebral cortex: RGD PMID:11085884 RGD:11570514 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LIPC lipase C, hepatic type ISO mRNA, protein:reduced expression:hepatocyte, extracellular space (rat)
protein:reduced expression:plasma (rat)		 RGD PMID:9106496 PMID:12841343 RGD:2308790, RGD:2308783 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G MAP1A microtubule associated protein 1A ISO protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr15:43,510,954...43,531,611
Ensembl chr15:43,510,958...43,531,620 		JBrowse link
G MAP1B microtubule associated protein 1B ISO protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G MBP myelin basic protein ISO RGD PMID:11592121 RGD:27226698 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683 		JBrowse link
G MOBP myelin associated oligodendrocyte basic protein ISO RGD PMID:11592121 RGD:27226698 NCBI chr 3:39,467,680...39,529,497
Ensembl chr 3:39,467,198...39,529,479 		JBrowse link
G MSTN myostatin ISO RGD PMID:18997488 RGD:2303545 NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO mRNA:decreased expression:brain, heart RGD PMID:7763274 RGD:2302314 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT3 metallothionein 3 ISO mRNA:increased expression:brain RGD PMID:10407136 RGD:9685800 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO protein:decreased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MYH6 myosin heavy chain 6 ISO RGD PMID:1703406 RGD:12798563 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 ISO RGD PMID:2950137 PMID:1703406 RGD:12792943, RGD:12798563 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO protein:increased expression:hippocampus RGD PMID:20412599 RGD:2326028 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436 		JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISO mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr 2:24,491,254...24,770,702
Ensembl chr 2:24,491,254...24,770,702 		JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr17:16,029,157...16,215,534
Ensembl chr17:16,029,065...16,218,185 		JBrowse link
G NEFH neurofilament heavy chain treatment ISO RGD PMID:10439464 RGD:9743942 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain treatment ISO RGD PMID:10439464 RGD:9743942 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NEFM neurofilament medium chain treatment ISO RGD PMID:10439464 RGD:9743942 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098 		JBrowse link
G NGF nerve growth factor ISO mRNA:decreased expression:hypothalamus RGD PMID:19233274 RGD:2303791 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA, protein:altered expression:cerebral cortex RGD PMID:21196918 RGD:4891143 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased activity:ovary (rat) RGD PMID:29214681 RGD:13504721 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO RGD PMID:1315530 RGD:10448989 NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589 		JBrowse link
G NRGN neurogranin treatment ISO protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn RGD PMID:20041985 PMID:16004982 RGD:9835423, RGD:9835430 NCBI chr11:124,739,942...124,747,210
Ensembl chr11:124,739,942...124,747,210 		JBrowse link
G OTOF otoferlin ISO mRNA, protein:decreased expression:cochlea (rat) RGD PMID:17376979 RGD:9491752 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G PAM peptidylglycine alpha-amidating monooxygenase ISO mRNA:increased stability:pituitary gland RGD PMID:8940376 RGD:2302427 NCBI chr 5:102,754,783...103,031,105
Ensembl chr 5:102,753,981...103,029,730 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO RGD PMID:21273639 RGD:10448988 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat)
mRNA:increased expression:hypothalamus, hippocampus, cortex (rat)		 RGD PMID:16926379 PMID:15291740 RGD:1600414, RGD:2308889 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO RGD PMID:2774570 RGD:70269 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319 		JBrowse link
G PITX2 paired like homeodomain 2 ISO mRNA, protein:decreased expression:ovary, granulosa cell RGD PMID:17982271 RGD:5131997 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 ISO mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
G PNPLA3 patatin like phospholipase domain containing 3 treatment ISO RGD PMID:19619606 RGD:14985223 NCBI chr22:43,923,805...43,947,582
Ensembl chr22:43,923,792...43,964,488 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP RGD PMID:22493691 RGD:6484670 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RELN reelin ISO protein:increased expression:layers of neocortex, hypothalamus (rat) RGD PMID:10436054 RGD:634730 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SERPINA7 serpin family A member 7 ISO protein:increased expression:liver RGD PMID:2106883 RGD:1600137 NCBI chr  X:106,032,435...106,038,727
Ensembl chr  X:106,032,435...106,038,727 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO mRNA:decreased expression:cerebellum RGD PMID:18827446 RGD:2306294 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31121238 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 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 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO protein:decreased expression:cerebral cortex RGD PMID:16581179 RGD:12879481 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28860195 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO protein:decreased expression:renal cortex, brush border membrane (rat) RGD PMID:17409279 RGD:7243134 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO protein:decreased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		JBrowse link
G SOD1 superoxide dismutase 1 treatment ISO mRNA:decreased expression:renal cortex (rat) RGD PMID:22076484 PMID:21607622 RGD:8655983, RGD:8655989 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:29896255 RGD:38549578 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:decreased expression:epididymus (rat) RGD PMID:20303481 RGD:4891505 NCBI chr 5:6,633,440...6,674,386
Ensembl chr 5:6,633,290...6,676,539 		JBrowse link
G STAR steroidogenic acute regulatory protein ISO mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G TG thyroglobulin treatment ISO
IAGP		 DNA:missense mutation:CDS:p.G2320R (rat)
ClinVar Annotator: match by term: Hypothyroidism		 ClinVar
RGD		 PMID:25741868 PMID:11089535 PMID:16365524 RGD:730133, RGD:150429798 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G THBD thrombomodulin IEP RGD PMID:22985614 RGD:11038688 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TOMM70 translocase of outer mitochondrial membrane 70 ISO mRNA:increased expression:striatum RGD PMID:10582581 RGD:11522362 NCBI chr 3:100,363,431...100,401,089
Ensembl chr 3:100,363,431...100,401,089 		JBrowse link
G TPO thyroid peroxidase ISO Hypothyroidism, congenital OMIA PMID:1748985 PMID:2061865 PMID:2307615 PMID:3223852 PMID:7695146 More... NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TRH thyrotropin releasing hormone ISO protein:increased expression:hypothalamus, neuron RGD PMID:16926379 RGD:1600414 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
G TRHR thyrotropin releasing hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta IAGP
EXP		 DNA:nonsense mutation:exon:94G>T (p.E11X) (human)
ClinVar Annotator: match by term: TSH deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... RGD:737692 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 More... NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA, protein:decreased expression:kidney RGD PMID:21190599 RGD:7175296 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843 		JBrowse link
G UCP3 uncoupling protein 3 ISO protein:decreased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085 		JBrowse link
G WNT3A Wnt family member 3A ISO mRNA:decreased expression:hippocampus RGD PMID:19233274 RGD:2303791 NCBI chr 1:228,006,998...228,061,271
Ensembl chr 1:228,006,998...228,061,271 		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 (putative) IAGP ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G FANCB FA complementation group B IAGP ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OMIM:300888
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:23143598 PMID:23966245 PMID:25741868 PMID:27310681 PMID:28492532 More... NCBI chr  X:131,273,506...131,289,464
Ensembl chr  X:131,273,506...131,578,899 		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 IAGP ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P ClinVar PMID:1901689 PMID:2155256 PMID:2495303 PMID:18407078 PMID:25741868 More... NCBI chr  X:106,032,435...106,038,727
Ensembl chr  X:106,032,435...106,038,727 		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 IAGP ClinVar Annotator: match by term: Thyrotropin deficiency, isolated ClinVar PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130056936 ATAC-STARR-seq lymphoblastoid active region 9309 IAGP ClinVar Annotator: match by term: Johanson-Blizzard syndrome ClinVar PMID:25741868 NCBI chr15:43,105,857...43,106,136 JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
OMIM:243800
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More... RGD:155882463, RGD:155882462 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		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 IAGP ClinVar Annotator: match by term: Li-Campeau syndrome ClinVar PMID:33340455 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: Li-Campeau syndrome OMIM
ClinVar		 PMID:25741868 PMID:33340455 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
Lingual Thyroids term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Lingual thyroid ClinVar PMID:32989326 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
Multinodular Goiter 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III IAGP
EXP		 ClinVar Annotator: match by term: Euthyroid goiter
ClinVar Annotator: match by term: Euthyroid goiter | ClinVar Annotator: match by term: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:6261577 PMID:9295070 PMID:9345104 PMID:16199547 PMID:18570301 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism
ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism
OMIM:610199
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 More... NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G GLIS3-AS1 GLIS3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism ClinVar PMID:25741868 PMID:27899417 PMID:28492532 PMID:29146476 PMID:29992946 More... NCBI chr 9:3,898,646...3,901,248
Ensembl chr 9:3,898,642...3,901,248 		JBrowse link
G GLIS3-AS2 GLIS3 antisense RNA 2 IAGP ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism ClinVar NCBI chr 9:4,299,301...4,309,894 JBrowse link
nodular goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		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 IAGP ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr14:80,476,969...80,959,502
Ensembl chr14:80,476,983...80,959,517 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP
EXP		 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1955520 PMID:7124278 PMID:7528344 PMID:7800007 PMID:7920658 More... RGD:8548658 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6B lysine acetyltransferase 6B IAGP
EXP		 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G FOXI1 forkhead box I1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
OMIM:274600
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: Pendred syndrome		 CTD
ClinVar		 PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome		 ClinVar PMID:9618166 PMID:9618167 PMID:10190331 PMID:10902795 PMID:11405873 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
OMIM:274600
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7411554, RGD:7421514, RGD:7421510 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome		 ClinVar PMID:9536098 PMID:11317356 PMID:11748854 PMID:11919333 PMID:12642503 More... NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		JBrowse link
selective pituitary thyroid hormone resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806630 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636 IAGP ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone ClinVar PMID:8563471 PMID:9141558 PMID:25741868 PMID:26467025 PMID:33353459 NCBI chr 3:24,142,946...24,144,145 JBrowse link
G THRB thyroid hormone receptor beta IAGP
EXP		 ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1159077 PMID:1358935 PMID:1400873 PMID:7593433 PMID:7838159 More... NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		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 IAGP ClinVar Annotator: match by term: Thyroid adenoma ClinVar PMID:11297621 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
thyroid cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Thyroid cancer ClinVar PMID:28492532 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Thyroid cancer ClinVar PMID:25186627 PMID:25741868 PMID:26315354 PMID:26787654 PMID:26976419 More... NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Thyroid cancer ClinVar PMID:28492532 NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CDH16 cadherin 16 IEP mRNA, protein:decreased expression:Thyroid RGD PMID:22028439 RGD:13792552 NCBI chr16:66,908,122...66,918,885
Ensembl chr16:66,908,122...66,918,917 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 disease_progression IEP mRNA, protein:increased expression RGD PMID:28992617 RGD:13792721 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MIR21 microRNA 21 ameliorates ISO RGD PMID:20956945 RGD:41404697 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MIR422A microRNA 422a severity IEP mRNA:decreased expression RGD PMID:28938536 RGD:13792774 NCBI chr15:63,870,930...63,871,019
Ensembl chr15:63,870,930...63,871,019 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:thyroid (mouse) RGD PMID:25246276 RGD:13825129 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		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 IAGP
EXP		 ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25381600 PMID:25741868 PMID:28444304 PMID:32428920 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		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 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12138371 PMID:12578864 PMID:15486068 PMID:25741868 PMID:26222560 More... NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602 		JBrowse link
Thyroid Carcinoma, Nonmedullary 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 ClinVar NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 OMIM
ClinVar		 PMID:19176457 PMID:25741868 PMID:28492532 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G PCM1 pericentriolar material 1 IAGP ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 ClinVar PMID:10980597 PMID:25741868 NCBI chr 8:17,922,988...18,029,948
Ensembl chr 8:17,922,842...18,029,948 		JBrowse link
G RINT1 RAD50 interactor 1 IAGP ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:31204009 PMID:33471991 NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677 		JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 ClinVar PMID:19176457 PMID:25741868 PMID:28492532 NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,288...36,513,829
Ensembl chr14:36,473,288...36,513,829 		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 IAGP
EXP		 ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More... NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
thyroid dyshormonogenesis 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806104 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:1544276-1545475 IAGP ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A
ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A		 ClinVar PMID:11061528 PMID:15055360 PMID:19243353 PMID:23236987 PMID:25564141 More... NCBI chr 2:1,540,504...1,541,703 JBrowse link
G TPO thyroid peroxidase IAGP
EXP		 ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A
ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		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 IAGP ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:133,036,728...133,102,602
Ensembl chr 8:133,036,728...133,102,912 		JBrowse link
G TG thyroglobulin IAGP
EXP		 ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More... NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		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 IAGP
EXP		 ClinVar Annotator: match by term: DEIODINASE DEFICIENCY
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More... NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		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 IAGP
EXP		 ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 More... NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		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 IAGP
EXP		 ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 More... NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		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 IEP
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 chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680 		JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:thyroid gland: RGD PMID:20956945 RGD:41404697 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15887859 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Thyroid gland undifferentiated (anaplastic) carcinoma ClinVar PMID:1565144 PMID:1631137 PMID:7732013 PMID:8423216 PMID:9242456 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		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 IDA DNA:hypermethylation:promoter RGD PMID:30884810 RGD:14696825 NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 disease_progression HEP mRNA:increased expression:thyroid gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 exacerbates HEP mRNA:increased expression:thyroid gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636 		JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 disease_progression HEP mRNA:increased expression:thyroid gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495 		JBrowse link
G CD34 CD34 molecule treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr 1:207,880,972...207,911,125
Ensembl chr 1:207,880,972...207,911,402 		JBrowse link
G CD93 CD93 molecule treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr20:23,079,360...23,086,324
Ensembl chr20:23,079,360...23,086,324 		JBrowse link
G CDH5 cadherin 5 treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784 		JBrowse link
G EMCN endomucin treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr 4:100,395,341...100,518,022
Ensembl chr 4:100,395,341...100,880,126 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G KDR kinase insert domain receptor treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G MIR181B1 microRNA 181b-1 IEP
ISO		 RNA:increased expression:thyroid gland RGD PMID:16728577 PMID:16728577 RGD:152023739, RGD:152023739 NCBI chr 1:198,858,873...198,858,982
Ensembl chr 1:198,858,873...198,858,982 		JBrowse link
G MIR221 microRNA 221 IEP
ISO		 RNA:increased expression:thyroid gland RGD PMID:16728577 PMID:16728577 RGD:152023739, RGD:152023739 NCBI chr  X:45,746,157...45,746,266
Ensembl chr  X:45,746,157...45,746,266 		JBrowse link
G MIR222 microRNA 222 IEP RNA:increased expression:thyroid gland RGD PMID:16728577 RGD:152023739 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124 		JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Thyroid gland carcinoma ClinVar PMID:2904651 PMID:3078962 PMID:7608256 PMID:7824936 PMID:7849700 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G ROBO4 roundabout guidance receptor 4 treatment IEP RGD PMID:32626543 RGD:151665104 NCBI chr11:124,883,691...124,897,865
Ensembl chr11:124,883,691...124,898,500 		JBrowse link
thyroid gland follicular carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27440272 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISS OMIM:188470 MouseDO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PTEN phosphatase and tensin homolog ISS OMIM:188470 MouseDO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G THRB thyroid hormone receptor beta EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:188470		 CTD
MouseDO		 PMID:27440272 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		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 IEP protein:decreased expression:thyroid Human) RGD PMID:25759796 RGD:11352710 NCBI chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680 		JBrowse link
G LOC130064074 ATAC-STARR-seq lymphoblastoid active region 14360 IAGP ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid ClinVar PMID:15841082 PMID:25741868 NCBI chr19:19,516,124...19,516,403 JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 IAGP
EXP		 ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15841082 PMID:25741868 NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IEP RGD PMID:19924240 RGD:6483332 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		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 IAGP ClinVar Annotator: match by term: Medullary thyroid gland carcinoma ClinVar PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G RET ret proto-oncogene EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medullary thyroid carcinoma
ClinVar Annotator: match by term: Medullary thyroid gland carcinoma		 CTD
ClinVar		 PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		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 susceptibility IAGP associated with Radiation-Induced Neoplasms;DNA:SNPs,haplotypes:exon 39,intron 22,intron 48: p.D1853N, IVS22-77 T>C, IVS48 + 238 C>G (rs1801516, rs664677, rs609429)
ClinVar Annotator: match by term: Papillary thyroid carcinoma		 ClinVar
RGD		 PMID:19404735 PMID:20305132 PMID:23555315 PMID:25186627 PMID:25741868 More... RGD:401850780 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102 		JBrowse link
G BEGAIN brain enriched guanylate kinase associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,537,147...100,587,417
Ensembl chr14:100,537,147...100,587,417 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase onset IAGP
ISS
ISO
EXP		 DNA:mutation:cds:p.V600E(human)
ClinVar Annotator: match by term: Papillary thyroid carcinoma
OMIM:188550
DNA:missense mutation:cds;p.V600E(rat)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... RGD:7241798, RGD:32716372 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRD4 bromodomain containing 4 IEP mRNA, protein:increased expression:thyroid RGD PMID:26707881 RGD:11085509 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:19404735 PMID:20305132 PMID:23555315 PMID:25186627 PMID:25741868 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 IEP mRNA:increased expression:thyroid gland RGD PMID:23569218 RGD:18337285 NCBI chr 1:20,482,391...20,486,210
Ensembl chr 1:20,482,391...20,486,210 		JBrowse link
G CAT catalase IEP protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CBX7 chromobox 7 IEP
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 chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680 		JBrowse link
G CCDC6 coiled-coil domain containing 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr10:59,788,747...59,906,556
Ensembl chr10:59,788,747...59,906,556 		JBrowse link
G CCND1 cyclin D1 IEP mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CDH1 cadherin 1 IEP DNA:hypermethylation:promoter RGD PMID:25520863 RGD:13792554 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CTNNB1 catenin beta 1 disease_progression IEP mRNA:increased expression:thyroid RGD PMID:29498921 PMID:28677753 RGD:13792558, RGD:13792605 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DIO3 iodothyronine deiodinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,561,495...101,563,452
Ensembl chr14:101,560,139...101,563,452 		JBrowse link
G DIO3OS DIO3 opposite strand upstream RNA EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,552,221...101,560,422
Ensembl chr14:101,552,221...101,620,355 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation RGD PMID:32024448 RGD:150523759 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 IEP mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956 		JBrowse link
G LIG4 DNA ligase 4 IAGP ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:25741868 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G MIR1193 microRNA 1193 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,030,052...101,030,129
Ensembl chr14:101,030,052...101,030,129 		JBrowse link
G MIR1197 microRNA 1197 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,025,564...101,025,651
Ensembl chr14:101,025,564...101,025,651 		JBrowse link
G MIR1247 microRNA 1247 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,560,287...101,560,422
Ensembl chr14:101,560,287...101,560,422 		JBrowse link
G MIR127 microRNA 127 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,882,979...100,883,075
Ensembl chr14:100,882,979...100,883,075 		JBrowse link
G MIR134 microRNA 134 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,054,687...101,054,759
Ensembl chr14:101,054,687...101,054,759 		JBrowse link
G MIR136 microRNA 136 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,884,702...100,884,783
Ensembl chr14:100,884,702...100,884,783 		JBrowse link
G MIR154 microRNA 154 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,059,755...101,059,838
Ensembl chr14:101,059,755...101,059,838 		JBrowse link
G MIR299 microRNA 299 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,023,794...101,023,856
Ensembl chr14:101,023,794...101,023,856 		JBrowse link
G MIR300 microRNA 300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,041,363...101,041,445
Ensembl chr14:101,041,363...101,041,445 		JBrowse link
G MIR323A microRNA 323a ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,025,732...101,025,817
Ensembl chr14:101,025,732...101,025,817 		JBrowse link
G MIR323B microRNA 323b EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,056,219...101,056,300
Ensembl chr14:101,056,219...101,056,300 		JBrowse link
G MIR329-1 microRNA 329-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,026,785...101,026,864
Ensembl chr14:101,026,785...101,026,864 		JBrowse link
G MIR337 microRNA 337 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,874,493...100,874,585
Ensembl chr14:100,874,493...100,874,585 		JBrowse link
G MIR369 microRNA 369 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,065,598...101,065,667
Ensembl chr14:101,065,598...101,065,667 		JBrowse link
G MIR370 microRNA 370 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,911,139...100,911,213
Ensembl chr14:100,911,139...100,911,213 		JBrowse link
G MIR376A1 microRNA 376a-1 EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,040,782...101,040,849
Ensembl chr14:101,040,782...101,040,849 		JBrowse link
G MIR376A2 microRNA 376a-2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,040,069...101,040,148
Ensembl chr14:101,040,069...101,040,148 		JBrowse link
G MIR376B microRNA 376b EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,040,436...101,040,535
Ensembl chr14:101,040,436...101,040,535 		JBrowse link
G MIR376C microRNA 376c EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,039,690...101,039,755
Ensembl chr14:101,039,690...101,039,755 		JBrowse link
G MIR377 microRNA 377 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,062,050...101,062,118
Ensembl chr14:101,062,050...101,062,118 		JBrowse link
G MIR379 microRNA 379 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,022,066...101,022,132
Ensembl chr14:101,022,066...101,022,132 		JBrowse link
G MIR380 microRNA 380 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,025,017...101,025,077
Ensembl chr14:101,025,017...101,025,077 		JBrowse link
G MIR381 microRNA 381 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,045,920...101,045,994
Ensembl chr14:101,045,920...101,045,994 		JBrowse link
G MIR382 microRNA 382 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,054,306...101,054,381
Ensembl chr14:101,054,306...101,054,381 		JBrowse link
G MIR409 microRNA 409 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,065,300...101,065,378
Ensembl chr14:101,065,300...101,065,378 		JBrowse link
G MIR410 microRNA 410 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,065,912...101,065,991
Ensembl chr14:101,065,912...101,065,991 		JBrowse link
G MIR411 microRNA 411 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,023,325...101,023,420
Ensembl chr14:101,023,325...101,023,420 		JBrowse link
G MIR412 microRNA 412 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,065,447...101,065,537
Ensembl chr14:101,065,447...101,065,537 		JBrowse link
G MIR431 microRNA 431 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,881,007...100,881,120
Ensembl chr14:100,881,007...100,881,120 		JBrowse link
G MIR432 microRNA 432 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,884,483...100,884,576
Ensembl chr14:100,884,483...100,884,576 		JBrowse link
G MIR433 microRNA 433 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,881,886...100,881,978
Ensembl chr14:100,881,886...100,881,978 		JBrowse link
G MIR485 microRNA 485 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,055,419...101,055,491
Ensembl chr14:101,055,419...101,055,491 		JBrowse link
G MIR487A microRNA 487a EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,052,446...101,052,525
Ensembl chr14:101,052,446...101,052,525 		JBrowse link
G MIR487B microRNA 487b EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,046,455...101,046,538
Ensembl chr14:101,046,455...101,046,538 		JBrowse link
G MIR493 microRNA 493 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,869,060...100,869,148
Ensembl chr14:100,869,060...100,869,148 		JBrowse link
G MIR494 microRNA 494 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714 		JBrowse link
G MIR495 microRNA 495 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,033,755...101,033,836
Ensembl chr14:101,033,755...101,033,836 		JBrowse link
G MIR496 microRNA 496 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,060,573...101,060,674
Ensembl chr14:101,060,573...101,060,674 		JBrowse link
G MIR539 microRNA 539 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,047,321...101,047,398
Ensembl chr14:101,047,321...101,047,398 		JBrowse link
G MIR543 microRNA 543 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,031,987...101,032,064
Ensembl chr14:101,031,987...101,032,064 		JBrowse link
G MIR654 microRNA 654 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,040,219...101,040,299
Ensembl chr14:101,040,219...101,040,299 		JBrowse link
G MIR655 microRNA 655 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,049,550...101,049,646
Ensembl chr14:101,049,550...101,049,646 		JBrowse link
G MIR656 microRNA 656 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,066,724...101,066,801
Ensembl chr14:101,066,724...101,066,801 		JBrowse link
G MIR758 microRNA 758 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,026,020...101,026,107
Ensembl chr14:101,026,020...101,026,107 		JBrowse link
G MIR770 microRNA 770 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,852,390...100,852,487
Ensembl chr14:100,852,390...100,852,487 		JBrowse link
G MIR889 microRNA 889 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,047,901...101,047,979
Ensembl chr14:101,047,901...101,047,979 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IEP mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G NKX2-1 NK2 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PLAU plasminogen activator, urokinase severity IEP mRNA:increased expression:thyroid gland (human) RGD PMID:22702340 RGD:7241798 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:101,760,573...101,927,992
Ensembl chr14:101,761,709...101,927,989 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein IEP protein:decreased expression:thyroid gland (human) RGD PMID:19066305 RGD:9835342 NCBI chr 1:21,596,221...21,669,357
Ensembl chr 1:21,596,221...21,669,357 		JBrowse link
G RET ret proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RUNX3 RUNX family transcription factor 3 IEP DNA:hypermethylation:promoter RGD PMID:25520863 RGD:13792554 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121 		JBrowse link
G RXRG retinoid X receptor gamma IEP mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 1:165,400,922...165,445,126
Ensembl chr 1:165,400,922...165,445,355 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 8:48,917,598...48,921,429
Ensembl chr 8:48,917,598...48,921,740 		JBrowse link
G TP53 tumor protein p53 susceptibility IAGP associated with Radiation-Induced Neoplasms;DNA:SNPs, haplotypes:exon 4: p.R72P (rs1042522) (human) RGD PMID:19286843 RGD:401850780 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TPM3 tropomyosin 3 IEP mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805 		JBrowse link
G WDR20 WD repeat domain 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr14:102,139,423...102,224,839
Ensembl chr14:102,139,503...102,224,847 		JBrowse link
G WDR3 WD repeat domain 3 susceptibility IAGP DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human) RGD PMID:20578902 RGD:11041898 NCBI chr 1:117,929,739...117,966,543
Ensembl chr 1:117,929,720...117,966,543 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:SNP:exon 10: p.R399Q (rs25487) (Human) RGD PMID:19286843 RGD:401850780 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
thyroid hormone resistance syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806630 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636 IAGP ClinVar Annotator: match by term: Thyroid hormone resistance syndrome
ClinVar Annotator: match by term: THRB-related condition		 ClinVar PMID:1324420 PMID:8013151 PMID:8664910 PMID:9707435 PMID:9804773 More... NCBI chr 3:24,142,946...24,144,145 JBrowse link
G NCOA1 nuclear receptor coactivator 1 ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr 2:24,491,254...24,770,702
Ensembl chr 2:24,491,254...24,770,702 		JBrowse link
G THRA thyroid hormone receptor alpha ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
G THRB thyroid hormone receptor beta susceptibility IAGP
ISS
EXP		 DNA:missense mutation:exon:p.I276L (human)
ClinVar Annotator: match by term: THRB-related condition
ClinVar Annotator: match by term: Thyroid hormone resistance syndrome
ClinVar Annotator: match by term: Generalized resistance to thyroid hormone
OMIM:188570 | OMIM:274300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1324420 PMID:1358935 PMID:1400869 PMID:1548332 PMID:1661299 More... RGD:1601659 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G TRHR thyrotropin releasing hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
thyroid malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO31 F-box protein 31 IAGP ClinVar Annotator: match by term: Ectopic thyroid ClinVar PMID:32989326 PMID:33675180 NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142 		JBrowse link
Thyroid Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626 		JBrowse link
G ABCA8 ATP binding cassette subfamily A member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr17:68,867,289...68,955,392
Ensembl chr17:68,867,289...68,955,392 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G ABCB8 ATP binding cassette subfamily B member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 7:151,028,450...151,047,782
Ensembl chr 7:151,028,422...151,047,782 		JBrowse link
G ABCC10 ATP binding cassette subfamily C member 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 6:43,427,541...43,451,994
Ensembl chr 6:43,427,366...43,450,427 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Neoplasm of the thyroid gland ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO RGD PMID:21743498 RGD:13504676 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase treatment IMP
IAGP
EXP		 ClinVar Annotator: match by term: Neoplasm of the thyroid gland
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12068308 PMID:12198537 PMID:12960123 PMID:14679157 PMID:15035987 More... RGD:11567260 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRD4 bromodomain containing 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26707881 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCND1 cyclin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23811263 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CDK1 cyclin dependent kinase 1 ISO mRNA, protein:increased expression:thyroid gland (rat) RGD PMID:19298605 RGD:2314685 NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:thyroid gland RGD PMID:23890812 RGD:13792775 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CHI3L1 chitinase 3 like 1 IEP mRNA:increased expression:tumor (human) RGD PMID:11752453 RGD:4892620 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CP ceruloplasmin ISO mRNA:increased expression:thyroid gland RGD PMID:19298605 RGD:2314685 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CSF2 colony stimulating factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35066776 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G DHX32 DEAH-box helicase 32 (putative) IAGP ClinVar Annotator: match by term: Neoplasm of the thyroid gland ClinVar PMID:32989326 NCBI chr10:125,836,337...125,896,485
Ensembl chr10:125,836,337...125,896,436 		JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr 8:119,557,086...119,673,390
Ensembl chr 8:119,557,086...119,673,453 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16699298 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G EPOR erythropoietin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16699298 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342 		JBrowse link
G GOLGA5 golgin A5 IAGP reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas RGD PMID:9443391 RGD:1599259 NCBI chr14:92,794,305...92,839,947
Ensembl chr14:92,794,305...92,839,947 		JBrowse link
G HABP2 hyaluronan binding protein 2 ISO RGD PMID:22715430 RGD:11353856 NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19808899 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase EXP CTD Direct Evidence: therapeutic CTD PMID:11352223 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP
EXP		 ClinVar Annotator: match by term: Neoplasm of the thyroid gland
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1904555 PMID:2999610 PMID:3018526 PMID:3078959 PMID:3510078 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: therapeutic CTD PMID:17909728 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398 		JBrowse link
G IL12B interleukin 12B ISO RGD PMID:10848872 RGD:4145421 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KLF5 KLF transcription factor 5 EXP CTD Direct Evidence: therapeutic CTD PMID:32173973 NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP
EXP		 ClinVar Annotator: match by term: Neoplasm of the thyroid gland
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:2278970 PMID:2547513 PMID:3078959 PMID:3122217 PMID:3627975 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LAMA2 laminin subunit alpha 2 ISO RGD PMID:10335943 RGD:1600207 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Neoplasm of the thyroid gland ClinVar PMID:1904555 PMID:2999610 PMID:3018526 PMID:3510078 PMID:3537694 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 IEP RGD PMID:24233520 RGD:7495808 NCBI chr17:21,284,711...21,315,240
Ensembl chr17:21,284,672...21,315,232 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34323000 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP DNA:loss of heterozygosity RGD PMID:11297621 RGD:737769 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MIR497 microRNA 497 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35066776 NCBI chr17:7,017,911...7,018,022
Ensembl chr17:7,017,911...7,018,022 		JBrowse link
G MSH6 mutS homolog 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29616133 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G NCOA4 nuclear receptor coactivator 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23811263 NCBI chr10:46,005,088...46,030,623
Ensembl chr10:46,005,088...46,030,623 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Neoplasm of the thyroid gland ClinVar PMID:2674680 PMID:8120410 PMID:12460918 PMID:16291983 PMID:18390968 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35066776 NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635 		JBrowse link
G PDGFA platelet derived growth factor subunit A EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Neoplasm of the thyroid gland ClinVar PMID:15930273 PMID:17376864 PMID:22120714 PMID:22949682 PMID:23246288 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: therapeutic CTD PMID:15785241 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PRDM2 PR/SET domain 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17103461 NCBI chr 1:13,700,188...13,825,079
Ensembl chr 1:13,700,188...13,825,079 		JBrowse link
G PTEN phosphatase and tensin homolog severity IAGP
IEP		 DNA:loss of heterozygosity:cds: (human)
mRNA:decreased expression:thyroid gland (human)		 RGD PMID:10793080 PMID:12203792 RGD:12832747, RGD:12832749 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTGES2 prostaglandin E synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22387750 NCBI chr 9:128,120,693...128,128,440
Ensembl chr 9:128,120,693...128,128,462 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22387750 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein IEP
EXP		 protein:decreased expression:thyroid gland (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22614916 PMID:17646383 RGD:9835038 NCBI chr 1:21,596,221...21,669,357
Ensembl chr 1:21,596,221...21,669,357 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 IEP protein:altered expression:thyroid gland (human) RGD PMID:25372777 RGD:9835389 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040 		JBrowse link
G RET ret proto-oncogene EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neoplasm of the thyroid gland		 CTD
ClinVar		 PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RXRA retinoid X receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:23811263 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16954431 PMID:17045167 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G SOD2 superoxide dismutase 2 IDA RGD PMID:15887859 RGD:1581241 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPP1 secreted phosphoprotein 1 IDA RGD PMID:15998773 RGD:1581369 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G TCF7L1 transcription factor 7 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23811263 NCBI chr 2:85,133,392...85,310,387
Ensembl chr 2:85,133,392...85,310,387 		JBrowse link
G TERC telomerase RNA component IEP RNA:increased expression:plasma RGD PMID:14654933 RGD:2291969 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IEP
EXP
IDA		 mRNA:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25383969 PMID:14654933 PMID:12915632 RGD:2291969, RGD:2291994 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26037280 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TP53 tumor protein p53 IEA
EXP		 CTD Direct Evidence: marker/mechanism CTD PMID:16940797 PMID:15118671 RGD:1331525 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TPM3 tropomyosin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23811263 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TPR translocated promoter region, nuclear basket protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23811263 NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693 		JBrowse link
G TSHR thyroid stimulating hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:8413627 PMID:9062474 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G ZFR zinc finger RNA binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:34323000 NCBI chr 5:32,354,350...32,444,740
Ensembl chr 5:32,354,350...32,444,740 		JBrowse link
Thyroid Nodule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TG thyroglobulin treatment IDA RGD PMID:15704609 RGD:401976497 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
thyroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAX BCL2 associated X, apoptosis regulator ISO RGD PMID:20968180 RGD:10054115 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1		 CTD
OMIM
ClinVar		 PMID:7847370 PMID:7987325 PMID:9066893 PMID:9199552 PMID:9536098 More... NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IEP protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20074522 PMID:25741868 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
thyrotoxicosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:19343192 RGD:2311054 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO protein:decreased expression:mitochondrion, brain, kidney, liver RGD PMID:6215275 RGD:2298979 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G TSHR thyroid stimulating hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9062474 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Thyrotropin-Releasing Hormone Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRH thyrotropin releasing hormone IAGP
EXP		 ClinVar Annotator: match by term: Hypothalamic hypothyroidism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C7orf33 chromosome 7 open reading frame 33 IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:148,590,766...148,615,860
Ensembl chr 7:148,590,766...148,615,860 		JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G CUL1 cullin 1 IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:148,697,756...148,801,110
Ensembl chr 7:148,697,914...148,801,110 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP
ISS
EXP		 ClinVar Annotator: match by term: Weaver syndrome
OMIM:277590
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More... NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G LOC129999534 ATAC-STARR-seq lymphoblastoid silent region 18737 IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar
G NSD1 nuclear receptor binding SET domain protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Weaver syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7702
        thyroid gland disease 626
          Abnormal Thyroid Hormone Metabolism 1 2
          Abnormal Thyroid Hormone Metabolism 2 1
          Abnormal Thyroid Hormone Metabolism 3 1
          Akesson Syndrome 0
          Inherited Thyroxine-Binding Globulin Deficiency 1
          Thyrocerebral-Retinal Syndrome 0
          Thyroid Neoplasms + 179
          euthyroid sick syndrome 1
          goiter + 81
          hyperthyroidism + 107
          hyperthyroxinemia + 10
          hypothyroidism + 361
          thyrocalcitonin secretion disease 0
          thyroid crisis 0
          thyroid malformation + 6
          thyroiditis + 37
paths to the root