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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hypothyroidism
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Accession:DOID:1459 term browser browse the term
Definition:A thyroid gland disease which involves an underproduction of thyroid hormone. (DO)
Synonyms:exact_synonym: TSH Deficiencies;   TSH deficiency;   Thyroid Stimulating Hormone Deficiency;   Thyroid-Stimulating Hormone Deficiencies;   hypothyroidisms;   thyroid deficiency;   thyroid insufficiency
 primary_id: MESH:D007037
 alt_id: OMIA:000536
 xref: EFO:0004705;   ICD10CM:E03.9;   ICD9CM:244.9;   NCI:C26800
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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...73,170,629 		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 NPY neuropeptide Y ISO mRNA, protein:altered expression:arcuate nucleus RGD PMID:26538454 RGD:11554627 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862 		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 POMC proopiomelanocortin ISO mRNA, protein:altered expression:arcuate nucleus RGD PMID:26538454 RGD:11554627 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		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...32,860,734 		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 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 STAT1 signal transducer and activator of transcription 1 IAGP ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TG thyroglobulin treatment ISO
IAGP		 DNA:missense mutation:CDS:p.G2320R (rat)
ClinVar Annotator: match by term: Hypothyroidism		 ClinVar
RGD		 PMID:11089535 PMID:16365524 RGD:730133, RGD:150429798 NCBI chr 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 chr11:73,974,061...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
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 ARF GTPase 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
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 chr14:49,927,213...50,105,121 		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 chr14:49,927,213...50,105,121 		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:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:missense mutation exon:p.L224R (c.671T>G) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 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: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
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...36,655,552 		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 6 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 chr14:36,473,207...36,521,149
Ensembl chr14:36,473,207...36,521,149 		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:24728327 PMID:25590979 PMID:25741868 PMID:28492532 More... NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LOC126861520 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:49442744-49443943 IAGP ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:49,048,961...49,050,160 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:16199547 PMID:16322276 PMID:16608528 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 FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO mRNA:decreased expression:hippocampus RGD PMID:29330744 RGD:405650592 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		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 PMID:25741868 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:8954020 PMID:8964822 PMID:9385128 PMID:10037069 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:8954020 PMID:8964822 PMID:9385128 PMID:10037069 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 PMID:25741868 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
G TTF1 transcription termination factor 1 IAGP ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar PMID:25741868 NCBI chr 9:132,375,548...132,406,840
Ensembl chr 9:132,375,548...132,406,851 		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 ClinVar Annotator: match by term: Pituitary cretinism OMIM
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
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: Congenital nongoitrous hypothyroidism 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 ClinVar Annotator: match by term: Congenital nongoitrous hypothyroidism 6 OMIM
ClinVar		 PMID:7501015 PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 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
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:16199547 PMID:16322276 PMID:18765513 PMID:20972728 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 PMID:25741868 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
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
ClinVar Annotator: match by term: HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES | 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 3:24,493,985...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 LOC126806630 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636 IAGP ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive 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: Thyroid hormone resistance, generalized, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1358935 PMID:1653889 PMID:1682340 PMID:1991834 PMID:4163616 More... NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		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 PMID:25741868 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 PMID:25741868 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		 ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OMIM:300888		 OMIM
ClinVar
MouseDO		 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
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
EXP
ISS		 ClinVar Annotator: match by term: Johanson-Blizzard syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
OMIM:243800
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 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
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...3,901,252 		JBrowse link
G GLIS3-AS2 GLIS3 antisense RNA 2 IAGP ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism ClinVar PMID:25741868 NCBI chr 9:4,299,301...4,309,894 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: 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 BAF chromatin remodeling complex subunit ATPase 2 IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 9:2,015,347...2,193,620
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
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...160,070,483 		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: Pendred syndrome
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
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: Thyroid dyshormonogenesis 1
ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 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 susceptibility 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 DUOXA1 dual oxidase maturation factor 1 IAGP ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 ClinVar PMID:21367925 NCBI chr15:45,117,366...45,129,879
Ensembl chr15:45,117,366...45,129,938 		JBrowse link
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:21367925 PMID:23292166 PMID:25675383 PMID:25741868 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 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: REFETOFF SYNDROME
ClinVar Annotator: match by term: THRB-related condition		 ClinVar PMID:1324420 PMID:8013151 PMID:8563471 PMID:8664910 PMID:9141558 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: REFETOFF SYNDROME
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:1314846 PMID:1324420 PMID:1358935 PMID:1400869 PMID:1548332 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
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 ClinVar Annotator: match by term: Hypothalamic hypothyroidism OMIM
ClinVar		 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 NCBI chr 7:148,884,205...148,884,574 JBrowse link
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...32,001,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97394
    syndrome 29822
      hypothyroidism 1769
        BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 2
        Bamforth-Lazarus syndrome 2
        Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
        IGSF1 deficiency syndrome 4
        Johanson-Blizzard syndrome 2
        Jung Wolff Back Stahl Syndrome 0
        Li-Campeau Syndrome 2
        Thyrotropin-Releasing Hormone Deficiency 1
        Zadik Barak Levin Syndrome 0
        congenital hypothyroidism + 259
        iodine hypothyroidism 0
        myxedema 0
        postsurgical hypothyroidism 0
        thyroid hormone resistance syndrome + 6
Path 2
Term Annotations click to browse term
  disease 97394
    disease of anatomical entity 91022
      endocrine system disease 12835
        thyroid gland disease 2298
          hypothyroidism 1769
            BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 2
            Bamforth-Lazarus syndrome 2
            Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
            IGSF1 deficiency syndrome 4
            Johanson-Blizzard syndrome 2
            Jung Wolff Back Stahl Syndrome 0
            Li-Campeau Syndrome 2
            Thyrotropin-Releasing Hormone Deficiency 1
            Zadik Barak Levin Syndrome 0
            congenital hypothyroidism + 259
            iodine hypothyroidism 0
            myxedema 0
            postsurgical hypothyroidism 0
            thyroid hormone resistance syndrome + 6
paths to the root