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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 chr 7:122,263,034...122,311,642
Ensembl chr 7:122,263,032...122,311,642 		JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Adrb2 adrenoceptor beta 2 IEP mRNA,protein:decreased expression:brown adipose tissue, heart: RGD PMID:1651697 RGD:8548533 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Alad aminolevulinate dehydratase IEP protein:decreased activity:blood (rat) RGD PMID:17720948 RGD:4144163 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:9022675 RGD:2306952 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Anxa2 annexin A2 IEP protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Anxa5 annexin A5 IEP protein:increased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoa5 apolipoprotein A5 IEP protein:decreased expression:liver RGD PMID:15941710 RGD:1601661 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apoc3 apolipoprotein C3 IDA RGD PMID:8429259 RGD:1599190 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E IEP protein:increased expression:plasma, high-density lipoprotein particle (rat) RGD PMID:6816881 RGD:12904658 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) IEP RGD PMID:12595491 RGD:704374 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Arsa arylsulfatase A IDA RGD PMID:7901316 RGD:1599223 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IEP mRNA:decreased expression:heart left ventricle RGD PMID:21217071 RGD:6904140 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101 		JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP treatment IEP protein:decreased expression:liver, mitochondrion (rat) RGD PMID:19878644 PMID:9733093 RGD:13830874, RGD:13838730 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592 		JBrowse link
G Bad BCL2-associated agonist of cell death IEP RGD PMID:22513421 RGD:10053713 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:20600205 RGD:4891132 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cat catalase treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cav1 caveolin 1 IEP protein:increased expression:cerebellum RGD PMID:21611807 RGD:6784532 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 IEP RGD PMID:22987596 RGD:13782376 NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP mRNA:increased expression:heart ventricle RGD PMID:8745212 RGD:7257542 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col2a1 collagen type II alpha 1 chain treatment IDA RGD PMID:17310101 RGD:8661259 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Cs citrate synthase IDA RGD PMID:15817832 PMID:29748131 RGD:243048477, RGD:243048482 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 IEP mRNA:increased expression:ovary (rat) RGD PMID:20149258 RGD:4890368 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Dcx doublecortin IEP protein:altered expression:cerebellum RGD PMID:22595232 RGD:12904757 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 IEP mRNA, protein:increased expression:thyroid gland RGD PMID:11694350 RGD:2316251 NCBI chr15:41,005,551...41,111,724
Ensembl chr15:41,005,551...41,111,829 		JBrowse link
G Elavl4 ELAV like RNA binding protein 4 IEP mRNA,protein:increased expression:brain: RGD PMID:12859688 RGD:1579855 NCBI chr 5:125,056,848...125,200,543
Ensembl chr 5:125,056,848...125,200,446 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 IEP mRNA,protein:increased expression,increased activity:hippocampus: RGD PMID:15811553 RGD:9685476 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317 		JBrowse link
G F7 coagulation factor VII IEP protein:increased expression:plasma (rat) RGD PMID:989968 RGD:2312322 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Foxp3 forkhead box P3 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:increased expression:plasma (rat) RGD PMID:9030821 RGD:2312549 NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IDA RGD PMID:22733496 RGD:7257534 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP mRNA:increased expression:heart (rat) RGD PMID:19728039 RGD:5685027 NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262 		JBrowse link
G Gsn gelsolin IEP Protein:increased expression:cochlea RGD PMID:2848627 RGD:1599872 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Ifng interferon gamma treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1380443 RGD:12910458 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 IEP RGD PMID:11834454 RGD:1626512 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937 		JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:24534949 PMID:29896255 RGD:11049472, RGD:38549578 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Isl1 ISL LIM homeobox 1 susceptibility ISO RGD PMID:26296153 RGD:11353031 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G L1cam L1 cell adhesion molecule IEP mRNA,protein:increased expression: cerebral cortex: RGD PMID:11085884 RGD:11570514 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lipc lipase C, hepatic type IDA protein:reduced expression:plasma (rat)
mRNA, protein:reduced expression:hepatocyte, extracellular space (rat)		 RGD PMID:12841343 PMID:9106496 RGD:2308783, RGD:2308790 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Map1a microtubule-associated protein 1A IEP protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 3:108,263,217...108,283,936
Ensembl chr 3:108,263,151...108,282,899 		JBrowse link
G Map1b microtubule-associated protein 1B IEP protein:increased expression:cerebellum RGD PMID:3252178 RGD:2304042 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317 		JBrowse link
G Mbp myelin basic protein IEP RGD PMID:11592121 RGD:27226698 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein IEP RGD PMID:11592121 RGD:27226698 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563 		JBrowse link
G Mstn myostatin IEP RGD PMID:18997488 RGD:2303545 NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IEP mRNA:decreased expression:brain, heart RGD PMID:7763274 RGD:2302314 NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt3 metallothionein 3 IEP mRNA:increased expression:brain RGD PMID:10407136 RGD:9685800 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase IEP protein:decreased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Myh6 myosin heavy chain 6 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 IEP RGD PMID:2950137 PMID:1703406 RGD:12792943, RGD:12798563 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:increased expression:hippocampus RGD PMID:20412599 RGD:2326028 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014 		JBrowse link
G Ncoa1 nuclear receptor coactivator 1 IEP mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 IEP mRNA:altered expression:brain RGD PMID:11850121 RGD:2306463 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032 		JBrowse link
G Nefh neurofilament heavy chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nefm neurofilament medium chain treatment IEP RGD PMID:10439464 RGD:9743942 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755 		JBrowse link
G Ngf nerve growth factor IEP mRNA:decreased expression:hypothalamus RGD PMID:19233274 RGD:2303791 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP mRNA, protein:altered expression:cerebral cortex RGD PMID:21196918 RGD:4891143 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased activity:ovary (rat) RGD PMID:29214681 RGD:13504721 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IEP RGD PMID:1315530 RGD:10448989 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705 		JBrowse link
G Nrgn neurogranin treatment IEP protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn RGD PMID:20041985 PMID:16004982 RGD:9835423, RGD:9835430 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516 		JBrowse link
G Otof otoferlin IEP mRNA, protein:decreased expression:cochlea (rat) RGD PMID:17376979 RGD:9491752 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase IEP mRNA:increased stability:pituitary gland RGD PMID:8940376 RGD:2302427 NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965 		JBrowse link
G Pcna proliferating cell nuclear antigen IEP RGD PMID:21273639 RGD:10448988 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 IEP mRNA:increased expression:hypothalamus, hippocampus, cortex (rat)
protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat)		 RGD PMID:15291740 PMID:16926379 RGD:2308889, RGD:1600414 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 IDA RGD PMID:2774570 RGD:70269 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA, protein:decreased expression:ovary, granulosa cell RGD PMID:17982271 RGD:5131997 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 IEP mRNA:decreased expression:multiple organs RGD PMID:15817667 RGD:2314536 NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960 		JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 treatment IEP RGD PMID:19619606 RGD:14985223 NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:19924240 RGD:6483332 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO RGD PMID:22493691 RGD:6484670 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Reln reelin IEP protein:increased expression:layers of neocortex, hypothalamus (rat) RGD PMID:10436054 RGD:634730 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human) RGD PMID:17588142 RGD:5147628 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:17588142 RGD:5147628 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Serpina7 serpin family A member 7 IEP protein:increased expression:liver RGD PMID:2106883 RGD:1600137 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP mRNA:decreased expression:cerebellum RGD PMID:18827446 RGD:2306294 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31121238 NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:25741868 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 IEP
ISO		 protein:altered expression:cochlear outer hair cell (rat)
Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse)		 RGD PMID:17520268 PMID:19176829 RGD:9585686, RGD:9585687 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 IEP protein:decreased expression:cerebral cortex RGD PMID:16581179 RGD:12879481 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28860195 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 IEP protein:decreased expression:renal cortex, brush border membrane (rat) RGD PMID:17409279 RGD:7243134 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP protein:decreased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA
IEP		 mRNA:decreased expression:renal cortex (rat) RGD PMID:22076484 PMID:21607622 RGD:8655983, RGD:8655989 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 treatment IEP RGD PMID:29896255 RGD:38549578 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:decreased expression:epididymus (rat) RGD PMID:20303481 RGD:4891505 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461 		JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:corpus luteum (rat) RGD PMID:17244746 RGD:4889527 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tg thyroglobulin treatment IAGP
ISO		 DNA:missense mutation:CDS:p.G2320R (rat)
ClinVar Annotator: match by term: Hypothyroidism		 ClinVar
RGD		 PMID:25741868 PMID:11089535 PMID:16365524 RGD:730133, RGD:150429798 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tgrdw thyroglobulin; rdw mutant treatment IAGP compared to wild type and heterozygotes RGD PMID:16365524 PMID:11089535 RGD:150429798, RGD:730133
G Thbd thrombomodulin ISO RGD PMID:22985614 RGD:11038688 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tomm70 translocase of outer mitochondrial membrane 70 IEP mRNA:increased expression:striatum RGD PMID:10582581 RGD:11522362 NCBI chr11:43,378,719...43,417,166
Ensembl chr11:43,377,216...43,417,202 		JBrowse link
G Tpo thyroid peroxidase ISO Hypothyroidism, congenital OMIA PMID:1748985 PMID:2061865 PMID:2307615 PMID:3223852 PMID:7695146 More... NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199 		JBrowse link
G Trh thyrotropin releasing hormone IEP protein:increased expression:hypothalamus, neuron RGD PMID:16926379 RGD:1600414 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637 		JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO DNA:nonsense mutation:exon:94G>T (p.E11X) (human)
ClinVar Annotator: match by term: TSH deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... RGD:737692 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism ClinVar PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 More... NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
G Ucp2 uncoupling protein 2 IEP mRNA, protein:decreased expression:kidney RGD PMID:21190599 RGD:7175296 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Ucp3 uncoupling protein 3 IEP protein:decreased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
G Wnt3a Wnt family member 3A IEP mRNA:decreased expression:hippocampus RGD PMID:19233274 RGD:2303791 NCBI chr10:44,034,174...44,078,366
Ensembl chr10:44,034,194...44,078,324 		JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Foxe1 forkhead box E1 ISO
ISS		 ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835 		JBrowse link
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 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966 		JBrowse link
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001 		JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108 		JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021 		JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738 		JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004 		JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496 		JBrowse link
G Arf6 ADP-ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510 		JBrowse link
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Brms1l BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:73,266,673...73,300,630
Ensembl chr 6:73,266,691...73,300,631 		JBrowse link
G C15h14orf119 similar to human chromosome 14 open reading frame 119 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180 		JBrowse link
G C15h14orf93 similar to human chromosome 14 open reading frame 93 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274 		JBrowse link
G C6h14orf28 similar to human chromosome 14 open reading frame 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558 		JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225 		JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612 		JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340 		JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285 		JBrowse link
G Cideb cell death-inducing DFFA-like effector b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605 		JBrowse link
G Clec14a C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612 		JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233 		JBrowse link
G Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109 		JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044 		JBrowse link
G Ctsg cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353 		JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,677,286...27,697,120
Ensembl chr15:27,677,268...27,697,347 		JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669 		JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838 		JBrowse link
G Dhrs2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644 		JBrowse link
G Dhrs4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127 		JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199 		JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427 		JBrowse link
G Eapp E2F-associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734 		JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025 		JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902 		JBrowse link
G Egln3 egl-9 family hypoxia-inducible factor 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766 		JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098 		JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Fbxo33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669 		JBrowse link
G Fitm1 fat storage-inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015 		JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011 		JBrowse link
G Foxa1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607 		JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,527,849...82,530,641 JBrowse link
G G2e3 G2/M-phase specific E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924 		JBrowse link
G Gemin2 gem (nuclear organelle) associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153 		JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935 		JBrowse link
G Gpr33-ps1 G protein-coupled receptor 33, pseudogene 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440 		JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814 		JBrowse link
G Gzmf granzyme F ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649 		JBrowse link
G Haus4 HAUS augmin-like complex, subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938 		JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773 		JBrowse link
G Hectd1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,181,429...69,268,045
Ensembl chr 6:69,181,436...69,268,053 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183 		JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745 		JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893 		JBrowse link
G Insm2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,973,861...72,976,453 JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285 		JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236 		JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573 		JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967 		JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424 		JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187 		JBrowse link
G Klhl28 kelch-like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578 		JBrowse link
G LOC103693823 epididymal secretory protein E3-beta-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623 		JBrowse link
G Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505 		JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894 		JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,263,199...29,265,716 JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316 		JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374 		JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126 		JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905 		JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041 		JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177 		JBrowse link
G Mia2 MIA SH3 domain ER export factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211 		JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,755,293...75,090,403
Ensembl chr 6:74,755,395...75,086,811 		JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Mis18bp1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626 		JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160 		JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841 		JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977 		JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220 		JBrowse link
G Nova1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:63,780,105...63,905,567
Ensembl chr 6:63,783,489...63,906,289 		JBrowse link
G Npas3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832 		JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215 		JBrowse link
G Or10g1b olfactory receptor family 10 subfamily G member 1B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188 		JBrowse link
G Or10g3 olfactory receptor family 10 subfamily G member 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615 		JBrowse link
G Or4e2 olfactory receptor family 4 subfamily E member 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297 		JBrowse link
G Or5au1 olfactory receptor family 5 subfamily AU member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632 		JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319 		JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703 		JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283 		JBrowse link
G Pnn pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889 		JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305 		JBrowse link
G Ppp1r3e protein phosphatase 1, regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603 		JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491 		JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416 		JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825 		JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554 		JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,084,736...28,085,655 JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440 		JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890 		JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946 		JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113 		JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348 		JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326 		JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121 		JBrowse link
G Rn7sl1 RNA component of signal recognition particle 7SL1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103 		JBrowse link
G Rnase1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624 		JBrowse link
G Rnase13 ribonuclease A family member 13 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670 		JBrowse link
G Rnase2 ribonuclease A family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479 		JBrowse link
G Rnase3 ribonuclease A family member 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790 		JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117 		JBrowse link
G Rnase6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328 		JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347 		JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816 		JBrowse link
G Rpl36al1 ribosomal protein L36A like 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,654,808...87,656,202
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr10:97,766,179...97,768,892 		JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636 		JBrowse link
G Sall2 spalt-like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918 		JBrowse link
G Scfd1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078 		JBrowse link
G Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560 		JBrowse link
G Sec23a Sec23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035 		JBrowse link
G Slc22a17 solute carrier family 22, member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799 		JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680 		JBrowse link
G Slc39a2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717 		JBrowse link
G Snx6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911 		JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		JBrowse link
G Sptssa serine palmitoyltransferase, small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214 		JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189 		JBrowse link
G Sstr1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802 		JBrowse link
G Strn3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102 		JBrowse link
G Stxbp6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024 		JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846 		JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523 		JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984 		JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349 		JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807 		JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833 		JBrowse link
G Tppp2 tubulin polymerization-promoting protein family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967 		JBrowse link
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024 		JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128 		JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178 		JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000 		JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128 		JBrowse link
G Zfp219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030 		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 ISO 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 OMIM
ClinVar		 PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex, subunit 5 IEP protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410 		JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d IEP protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr10:100,657,700...100,662,960
Ensembl chr10:100,657,708...100,663,479 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein IDA mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Duox2 dual oxidase 2 ISO
ISS		 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 chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749 NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968 		JBrowse link
G Egr1 early growth response 1 IEP RGD PMID:23079472 RGD:10395304 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit IEP mRNA:decreased expression:hippocampus RGD PMID:29330744 RGD:405650592 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Foxe1 forkhead box E1 ISS MouseDO NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghr growth hormone receptor treatment IEP RGD PMID:21162131 RGD:10003146 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Inhbb inhibin subunit beta B IEP mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832 		JBrowse link
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319 		JBrowse link
G Nefh neurofilament heavy chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nefm neurofilament medium chain IDA protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755 		JBrowse link
G Ngfr nerve growth factor receptor treatment IEP RGD PMID:23312094 RGD:10414076 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Pax8 paired box 8 ISO
ISS		 nongoitrous congenital hypothyroidism 2, OMIM:218700
ClinVar Annotator: match by term: Congenital hypothyroidism		 ClinVar
MouseDO
RGD		 PMID:16763387 PMID:25146893 PMID:26362610 PMID:9590296 RGD:1600298 NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISS MouseDO NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO
ISS		 ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar
MouseDO		 PMID:31372509 NCBI chr 5:27,884,400...28,021,865
Ensembl chr 5:27,887,042...28,021,658 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P
ClinVar Annotator: match by term: Congenital hypothyroidism		 ClinVar
RGD		 PMID:3998954 PMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749 More... RGD:1624273 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
G Tg thyroglobulin ISS
ISO		 ClinVar Annotator: match by term: Congenital hypothyroidism MouseDO
ClinVar		 PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 More... NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tpo thyroid peroxidase ISO
ISS		 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 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199 		JBrowse link
G Trhr thyrotropin releasing hormone receptor ISS MouseDO NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO
ISS
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypothyroidism		 CTD
MouseDO
ClinVar
RGD		 PMID:11442002 PMID:12629076 PMID:15693879 PMID:16756469 PMID:17526952 More... RGD:150521601 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
G Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit IMP RGD PMID:29507327 RGD:150521601
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 More... NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063 		JBrowse link
Congenital Nongoitrous Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199 		JBrowse link
G Tshr thyroid stimulating hormone receptor treatment IMP
ISO		 ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE ClinVar
RGD		 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... RGD:150521601 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
G Tshrem1Mlit thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit treatment IMP RGD PMID:29507327 RGD:150521601
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1		 CTD
ClinVar		 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: Ectopic thyroid ClinVar PMID:32989326 PMID:33675180 NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010 		JBrowse link
G Pax8 paired box 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2		 OMIM
CTD
ClinVar		 PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 More... NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar PMID:25741868 NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257 		JBrowse link
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Pituitary cretinism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559 		JBrowse link
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809 PMID:25741868 PMID:34008892 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705 		JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6		 OMIM
CTD
ClinVar		 PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 More... NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936 		JBrowse link
congenital nongoitrous hypothyroidism 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trhr thyrotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 OMIM
ClinVar		 PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309 		JBrowse link
congenital nongoitrous hypothyroidism 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1x transducin (beta)-like 1 X-linked ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 OMIM
ClinVar		 PMID:25741868 PMID:27603907 PMID:30591955 NCBI chr  X:41,574,558...41,731,117
Ensembl chr  X:41,576,047...41,731,101 		JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 OMIM
ClinVar		 PMID:25741868 PMID:30061370 NCBI chr  X:105,344,020...105,360,004 JBrowse link
familial thyroid dyshormonogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16199547 PMID:16322276 PMID:18765513 PMID:20972728 More... NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar PMID:28492532 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
Generalized Thyroid Hormone Resistance, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:1159077 PMID:1314846 PMID:1324420 PMID:1358935 PMID:1400869 More... NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		JBrowse link
Generalized Thyroid Hormone Resistance, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1653889 PMID:1682340 PMID:1991834 PMID:4163616 PMID:8013151 More... NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		JBrowse link
IGSF1 deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement ClinVar NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO
ISS		 OMIM:300888
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement		 OMIM
MouseDO
CTD
ClinVar		 PMID:23143598 PMID:23966245 PMID:25741868 PMID:27310681 PMID:28492532 More... NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO
ISS		 ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
OMIM:243800
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... RGD:155882463, RGD:155882462 NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204 		JBrowse link
Li-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Li-Campeau syndrome ClinVar PMID:33340455 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Li-Campeau syndrome OMIM
ClinVar		 PMID:25741868 PMID:33340455 NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477 		JBrowse link
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis3 GLIS family zinc finger 3 ISO
ISS		 OMIM:610199
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism		 OMIM
MouseDO
CTD
ClinVar		 PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 More... NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899 		JBrowse link
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 ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094 		JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chr10:12,714,137...12,715,568 JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Foxi1 forkhead box I1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:274600
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome		 CTD
MouseDO
ClinVar		 PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO 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 chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO
ISS		 ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
OMIM:274600
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7421514, RGD:7421510, RGD:7411554 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
thyroid dyshormonogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More... NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
thyroid dyshormonogenesis 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: 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		 OMIM
ClinVar
CTD		 PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199 		JBrowse link
thyroid dyshormonogenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sla src-like adaptor ISO ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648 		JBrowse link
G Tg thyroglobulin susceptibility ISO CTD Direct Evidence: marker/mechanism
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
OMIM
ClinVar		 PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More... NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
thyroid dyshormonogenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More... NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319 		JBrowse link
thyroid dyshormonogenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 More... NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968 		JBrowse link
thyroid dyshormonogenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: 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 chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
thyroid hormone resistance syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncoa1 nuclear receptor coactivator 1 ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664 		JBrowse link
G Thra thyroid hormone receptor alpha ISS OMIM:188570 | OMIM:274300 MouseDO NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936 		JBrowse link
G Thrb thyroid hormone receptor beta susceptibility ISO
ISS		 DNA:missense mutation:exon:p.I276L (human)
ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: THRB-related condition | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome
OMIM:188570 | OMIM:274300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1324420 PMID:1358935 PMID:1400869 PMID:1548332 PMID:1661299 More... RGD:1601659 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		JBrowse link
G Trhr thyrotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9141550 NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309 		JBrowse link
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypothalamic hypothyroidism		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637 		JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO
ISS		 ClinVar Annotator: match by term: Weaver syndrome
OMIM:277590
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More... NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weaver syndrome		 CTD
ClinVar		 PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      hypothyroidism 336
        BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
        Bamforth-Lazarus syndrome 2
        Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
        IGSF1 deficiency syndrome 4
        Johanson-Blizzard syndrome 1
        Jung Wolff Back Stahl Syndrome 0
        Li-Campeau Syndrome 2
        Thyrotropin-Releasing Hormone Deficiency 1
        Zadik Barak Levin Syndrome 0
        congenital hypothyroidism + 234
        iodine hypothyroidism 0
        myxedema 0
        postsurgical hypothyroidism 0
        thyroid hormone resistance syndrome + 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        thyroid gland disease 571
          hypothyroidism 336
            BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
            Bamforth-Lazarus syndrome 2
            Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
            IGSF1 deficiency syndrome 4
            Johanson-Blizzard syndrome 1
            Jung Wolff Back Stahl Syndrome 0
            Li-Campeau Syndrome 2
            Thyrotropin-Releasing Hormone Deficiency 1
            Zadik Barak Levin Syndrome 0
            congenital hypothyroidism + 234
            iodine hypothyroidism 0
            myxedema 0
            postsurgical hypothyroidism 0
            thyroid hormone resistance syndrome + 4
paths to the root