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
Accession: DOID:1459
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 .
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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
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Adnp
activity-dependent neuroprotector homeobox
ISO
ClinVar Annotator: match by term: Hypothyroidism
ClinVar
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 PMID:28492532 PMID:29475819 PMID:29724491 PMID:29911927 PMID:33004838 More...
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Col2a1
collagen type II alpha 1 chain
treatment
IDA
RGD
PMID:17310101
RGD:8661259
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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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
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
IEP
mRNA:increased expression:ovary (rat)
RGD
PMID:20149258
RGD:4890368
NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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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
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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
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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
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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
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F7
coagulation factor VII
IEP
protein:increased expression:plasma (rat)
RGD
PMID:989968
RGD:2312322
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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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
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Gip
gastric inhibitory polypeptide
IEP
protein:increased expression:plasma (rat)
RGD
PMID:9030821
RGD:2312549
NCBI chr10:80,968,410...80,976,506
Ensembl chr10:80,968,352...80,976,503
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Hypothyroidism
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Mstn
myostatin
IEP
RGD
PMID:18997488
RGD:2303545
NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
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Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
IEP
mRNA:decreased expression:brain, heart
RGD
PMID:7763274
RGD:2302314
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Hypothyroidism
ClinVar
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17895320 PMID:17963006 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 PMID:28873162 PMID:30660595 PMID:31510104 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Tgrdw
thyroglobulin; rdw mutant
treatment
IAGP
compared to wild type and heterozygotes
RGD
PMID:16365524 PMID:11089535
RGD:150429798 , RGD:730133
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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
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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
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Tpo
thyroid peroxidase
ISO
Hypothyroidism, congenital
OMIA
PMID:1748985 PMID:2061865 PMID:2307615 PMID:3223852 PMID:7695146 PMID:7730121 PMID:7744675 PMID:8091179 PMID:8116929 PMID:8175472 PMID:8496104 PMID:8592797 PMID:8731132 PMID:8799987 PMID:8885174 PMID:8913019 PMID:9282344 PMID:9444634 PMID:9503354 PMID:9590447 PMID:9682425 PMID:10088086 PMID:10340243 PMID:10340250 PMID:11316303 PMID:11860240 PMID:12125189 PMID:12219595 PMID:12416867 PMID:12564727 PMID:12741092 PMID:12892299 PMID:14518649 PMID:16300118 PMID:16451201 PMID:17197623 PMID:17619002 PMID:17619004 PMID:21541884 PMID:23113744 PMID:23223904 PMID:23683021 PMID:25290378 PMID:25555336 PMID:25958183 PMID:26261983 PMID:26401337 PMID:26401340 PMID:26478542 PMID:26696394 PMID:27267591 PMID:35610669 PMID:37167252 More...
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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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
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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
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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:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:15297803 PMID:18031379 PMID:22606512 PMID:24423284 PMID:24729111 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27362444 PMID:27387040 PMID:28492532 PMID:31166470 PMID:1971148 More...
RGD:737692
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Tshr
thyroid stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Hypothyroidism
ClinVar
PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 PMID:27060741 PMID:28492532 PMID:28561265 More...
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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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
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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
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Wnt3a
Wnt family member 3A
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:19233274
RGD:2303791
NCBI chr10:44,034,174...44,078,463
Ensembl chr10:44,034,194...44,078,324
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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
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Foxe1
forkhead box E1
ISO
ClinVar Annotator: match by term: Bamforth-Lazarus syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:25381600 PMID:25741868 PMID:28492532 PMID:35963604 More...
NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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Kat6b
lysine acetyltransferase 6B
ISO
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar OMIM RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28492532 PMID:28758091 PMID:30353918 PMID:32424177 PMID:22077973 More...
RGD:9588484
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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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
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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
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
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
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
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
G
Ang
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,317,733...24,323,361
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
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
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
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
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
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
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
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...73,300,631
Ensembl chr 6:73,266,691...73,300,631
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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
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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
G
Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,361,885...29,364,778
Ensembl chr15:29,362,302...29,364,612
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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
G
Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,169,885...28,171,283
Ensembl chr15:28,169,704...28,171,814
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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
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
G
Cideb
cell death-inducing DFFA-like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,252,203...29,256,759
Ensembl chr15:29,252,213...29,256,605
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
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
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
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
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
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
G
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,677,285...27,697,275
Ensembl chr15:27,677,268...27,697,347
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
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
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
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
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
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
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
G
Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,343,835...24,346,774
Ensembl chr15:24,345,573...24,346,025
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
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
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
G
Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,632,587...72,647,052
Ensembl chr 6:72,632,623...72,647,553
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
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
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
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
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
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
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
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
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
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
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
G
Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,343,361...30,346,792
Ensembl chr15:30,173,603...30,346,814
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
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
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
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...69,267,803
Ensembl chr 6:69,181,436...69,268,053
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
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
G
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
G
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,973,897...72,977,777
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
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
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
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
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
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
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
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
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
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
G
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,921,105...27,927,507
Ensembl chr15:27,920,259...27,927,505
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
G
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,263,126...29,265,716
G
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,258,427...29,260,340
Ensembl chr15:29,259,240...29,260,316
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
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
G
Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,148,994...29,153,091
Ensembl chr15:29,148,994...29,151,905
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
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
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
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
G
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,755,314...75,090,403
Ensembl chr 6:74,755,395...75,086,811
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome 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 ClinVar RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:18788921 PMID:19176457 PMID:19336474 PMID:22825795 PMID:22832740 PMID:23379327 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30746413 PMID:26839702 PMID:18788921 PMID:23379327 PMID:23911641 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
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
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
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...63,905,950
Ensembl chr 6:63,783,489...63,906,289
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
G
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,008,104...29,009,832
Ensembl chr15:29,008,104...29,009,832
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,081,148...28,087,326
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
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
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
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
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
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
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
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
G
RGD1307621
hypothetical LOC314168
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
G
RGD1565222
similar to RIKEN cDNA 4931414P19
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
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
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
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...24,363,658
Ensembl chr15:24,361,927...24,363,624
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
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
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
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...24,330,116
Ensembl chr15:24,312,464...24,330,117
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
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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
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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
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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
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Rpl10l1
ribosomal protein L10 like 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
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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
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Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,635,229...87,636,605
Ensembl chr 6:87,635,230...87,636,636
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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
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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
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Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,378,026...29,381,075
Ensembl chr15:29,378,026...29,381,560
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
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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
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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
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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
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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
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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
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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
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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
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Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,127,585...29,135,349
Ensembl chr15:29,127,584...29,135,349
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:32083401 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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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
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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
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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
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Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 PMID:18765513 PMID:19789206 PMID:20972728 PMID:21565790 PMID:24033266 PMID:24423310 PMID:24735383 PMID:25741868 PMID:26990548 PMID:27525530 PMID:27557340 PMID:27821020 PMID:28492532 PMID:28666341 PMID:30084132 PMID:30240412 PMID:30487145 PMID:31044655 PMID:32765423 PMID:12110737 More...
RGD:734905
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Duoxa2
dual oxidase maturation factor 2
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
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Egr1
early growth response 1
IEP
RGD
PMID:23079472
RGD:10395304
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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Foxe1
forkhead box E1
ISS
MouseDO
NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Slc5a5
solute carrier family 5 member 5
ISO
iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar RGD
PMID:3998954 PMID:10487695 PMID:9171822
RGD:1624273
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Tg
thyroglobulin
ISS ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
MouseDO ClinVar
PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 PMID:11484898 PMID:14764776 PMID:15769978 PMID:16199547 PMID:16403815 PMID:17532758 PMID:19837936 PMID:20410234 PMID:21128992 PMID:21372558 PMID:23164529 PMID:25741868 PMID:28492532 More...
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tpo
thyroid peroxidase
ISO
total iodide organification defect, OMIM:274500 ClinVar Annotator: match by term: Congenital hypothyroidism CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868 PMID:7550241 More...
RGD:1599648
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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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
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Tshb
thyroid stimulating hormone subunit beta
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
PMID:25741868
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Tshr
thyroid stimulating hormone receptor
ISO IMP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital hypothyroidism
CTD ClinVar RGD
PMID:11442002 PMID:12629076 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 PMID:19506388 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22405933 PMID:22876533 PMID:23926367 PMID:24033266 PMID:24895636 PMID:25741868 PMID:26709262 PMID:27084275 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:30083029 PMID:31356790 PMID:29507327 More...
RGD:150521601
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Tshrem1Mlit
thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit
IMP
RGD
PMID:29507327
RGD:150521601
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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
NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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Cep128
centrosomal protein 128
ISO
ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar
PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:16060907 PMID:17062880 PMID:17705697 PMID:18727713 PMID:21186955 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30372544 More...
NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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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
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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
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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:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9329388 PMID:9385128 PMID:9589634 PMID:10037069 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16060907 PMID:16756469 PMID:17062880 PMID:17524032 PMID:17526952 PMID:17705697 PMID:17953807 PMID:18379122 PMID:18727713 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19506388 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21186955 PMID:21586576 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22112806 PMID:22359649 PMID:22405933 PMID:22876533 PMID:23356285 PMID:23535966 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27578510 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265 PMID:29092890 PMID:30083029 PMID:30372544 PMID:31356790 PMID:29507327 More...
RGD:150521601
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Tshrem1Mlit
thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit
treatment
IMP
RGD
PMID:29507327
RGD:150521601
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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 PMID:16060907 PMID:17062880 PMID:17705697 PMID:18727713 PMID:21186955 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30372544 More...
NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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
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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
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Tshr
thyroid stimulating hormone receptor
ISO
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1955520 PMID:7528344 PMID:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9329388 PMID:9385128 PMID:9589634 PMID:10037069 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16060907 PMID:16756469 PMID:17062880 PMID:17524032 PMID:17526952 PMID:17705697 PMID:17953807 PMID:18379122 PMID:18727713 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19506388 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21186955 PMID:21586576 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22112806 PMID:22359649 PMID:22405933 PMID:22876533 PMID:23356285 PMID:23535966 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27578510 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265 PMID:29092890 PMID:30083029 PMID:30372544 PMID:31356790 More...
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Fbxo31
F-box protein 31
ISO
ClinVar Annotator: match by term: Ectopic thyroid
ClinVar
PMID:32989326 PMID:33675180
NCBI chr19:49,624,818...49,656,083
Ensembl chr19:49,627,686...49,656,010
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Pax8
paired box 8
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
OMIM ClinVar
PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 PMID:12116225 PMID:15356023 PMID:15718293 PMID:17437516 PMID:17980011 PMID:20302910 PMID:23647375 PMID:25741868 PMID:28060725 PMID:28444304 PMID:28492532 PMID:29159607 PMID:30222900 More...
NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
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Tshb
thyroid stimulating hormone subunit beta
ISO
ClinVar Annotator: match by term: Pituitary cretinism
OMIM ClinVar
PMID:1971148 PMID:2792087 PMID:8636437 PMID:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:15297803 PMID:22606512 PMID:24423284 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27362444 PMID:27387040 PMID:28492532 PMID:31166470 More...
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5
OMIM ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21110066 PMID:22920929 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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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
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Thra
thyroid hormone receptor alpha
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6
OMIM ClinVar
PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 PMID:25670821 PMID:25741868 PMID:28492532 PMID:34008892 More...
NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936
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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
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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
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Irs4
insulin receptor substrate 4
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9
OMIM ClinVar
PMID:25741868 PMID:30061370
NCBI chr X:105,344,016...105,359,985
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Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis
ClinVar
PMID:12110737 PMID:16322276 PMID:18765513 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 PMID:24735383 PMID:25248169 PMID:25741868 PMID:26709262 PMID:26990548 PMID:27525530 PMID:27821020 PMID:28492532 PMID:28666341 PMID:29092890 PMID:29650690 PMID:30084132 PMID:30240412 PMID:30487145 PMID:31044655 PMID:32765423 More...
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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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
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Tg
thyroglobulin
ISO
ClinVar Annotator: match by term: Thyroid dyshormonogenesis
ClinVar
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Thrb
thyroid hormone receptor beta
ISO
ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant
OMIM ClinVar
PMID:1159077 PMID:1314846 PMID:1324420 PMID:1358935 PMID:1400869 PMID:1400873 PMID:1563081 PMID:1587388 PMID:1619012 PMID:1653889 PMID:1661299 PMID:1677564 PMID:1682340 PMID:1846005 PMID:1973914 PMID:1991834 PMID:2153155 PMID:2510172 PMID:2555064 PMID:2879243 PMID:3571851 PMID:7200565 PMID:7528740 PMID:7593433 PMID:7616549 PMID:7833659 PMID:7838159 PMID:8013151 PMID:8040303 PMID:8175986 PMID:8200958 PMID:8319599 PMID:8381821 PMID:8384535 PMID:8496318 PMID:8514853 PMID:8535442 PMID:8563471 PMID:8664910 PMID:8670802 PMID:8674808 PMID:8786093 PMID:8828460 PMID:8875752 PMID:8889584 PMID:8958790 PMID:9001191 PMID:9086567 PMID:9086569 PMID:9092799 PMID:9100577 PMID:9140079 PMID:9141558 PMID:9315673 PMID:9605924 PMID:9707435 PMID:9804773 PMID:10350052 PMID:10487671 PMID:10852467 PMID:10918302 PMID:11167935 PMID:11518118 PMID:11701667 PMID:11704998 PMID:11734632 PMID:12201835 PMID:12356724 PMID:12554782 PMID:15598685 PMID:15771554 PMID:15802373 PMID:15815068 PMID:16099238 PMID:16804041 PMID:17610520 PMID:18363280 PMID:18844476 PMID:19268523 PMID:19378427 PMID:19439650 PMID:20050372 PMID:20237409 PMID:21340159 PMID:21622532 PMID:21703645 PMID:21760978 PMID:21795843 PMID:21871106 PMID:22319036 PMID:22551329 PMID:22947347 PMID:23457315 PMID:23633200 PMID:23926384 PMID:24174637 PMID:24393243 PMID:24722129 PMID:25040256 PMID:25063548 PMID:25135573 PMID:25502991 PMID:25738994 PMID:25741868 PMID:25867808 PMID:25905418 PMID:26041374 PMID:26273722 PMID:26425626 PMID:26467025 PMID:27168936 PMID:27980311 PMID:28235578 PMID:28257829 PMID:28492532 PMID:28938413 PMID:29262478 PMID:30148208 PMID:30430796 PMID:30497070 PMID:30672388 PMID:30707410 PMID:30976996 PMID:31341516 PMID:32581500 PMID:32635414 PMID:33353459 PMID:33768782 PMID:34382419 More...
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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Thrb
thyroid hormone receptor beta
ISO
ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive
OMIM ClinVar
PMID:1653889 PMID:1682340 PMID:1991834 PMID:4163616 PMID:8013151 PMID:22319036 PMID:24393243 PMID:25135573 PMID:26467025 More...
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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Aopep
aminopeptidase O
ISO
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
ClinVar
NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
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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
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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
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Igsf1
immunoglobulin superfamily, member 1
ISO
ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OMIM ClinVar
PMID:23143598 PMID:23966245 PMID:25741868 PMID:27310681 PMID:28492532 PMID:30086211 More...
NCBI chr X:129,069,891...129,085,331
Ensembl chr X:129,069,896...129,085,139
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Ubr1
ubiquitin protein ligase E3 component n-recognin 1
ISO
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human) DNA:splice-site mutation:cds:IVS26+5G>A (human) ClinVar Annotator: match by term: Johanson-Blizzard syndrome
OMIM ClinVar RGD
PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 PMID:24599544 PMID:25741868 PMID:28492532 PMID:21711208 PMID:19006206 More...
RGD:155882463 , RGD:155882462
NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
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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
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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
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Glis3
GLIS family zinc finger 3
ISO
ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism
OMIM ClinVar
PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 PMID:24033266 PMID:25741868 PMID:26259131 PMID:27899417 PMID:28253873 PMID:28444304 PMID:28492532 PMID:29146476 PMID:29992946 PMID:31415576 PMID:32425884 PMID:32693112 PMID:35394098 More...
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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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
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Diaph1
diaphanous-related formin 1
ISO
ClinVar Annotator: match by term: Pendred syndrome
ClinVar
PMID:30311386
NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
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Foxi1
forkhead box I1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome
CTD 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
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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 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23924083 PMID:24193250 PMID:24561201 PMID:25741868 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27677466 PMID:27875746 PMID:28492532 PMID:28747464 PMID:32062759 More...
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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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
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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
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Slc26a4
solute carrier family 26 member 4
ISO
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 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
OMIM ClinVar CTD RGD
PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9604973 PMID:9618166 PMID:9618167 PMID:9920104 PMID:10190331 PMID:10571950 PMID:10602116 PMID:10644529 PMID:10700480 PMID:10718825 PMID:10861298 PMID:10874637 PMID:10878664 PMID:10902795 PMID:11317356 PMID:11375792 PMID:11405873 PMID:11502831 PMID:11700190 PMID:11716048 PMID:11748854 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12354788 PMID:12642503 PMID:12676893 PMID:12788906 PMID:12920581 PMID:12974744 PMID:14508505 PMID:14679580 PMID:14715652 PMID:15099345 PMID:15279074 PMID:15355436 PMID:15531480 PMID:15574297 PMID:15611902 PMID:15679828 PMID:15689455 PMID:15720248 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16199547 PMID:16275403 PMID:16283880 PMID:16460646 PMID:16482981 PMID:16570074 PMID:16684826 PMID:16711435 PMID:16773579 PMID:16791000 PMID:16914891 PMID:16924389 PMID:16950989 PMID:16952406 PMID:17125574 PMID:17146393 PMID:17309986 PMID:17322586 PMID:17357124 PMID:17443271 PMID:17503324 PMID:17576681 PMID:17697873 PMID:17718863 PMID:17766716 PMID:17851929 PMID:17876604 PMID:17940114 PMID:18075246 PMID:18167283 PMID:18250610 PMID:18274916 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:18427006 PMID:18585793 PMID:18641518 PMID:18665027 PMID:18813951 PMID:18988928 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19199245 PMID:19204907 PMID:19287372 PMID:19318451 PMID:19426954 PMID:19429184 PMID:19509082 PMID:19565036 PMID:19578036 PMID:19608655 PMID:19615760 PMID:19620588 PMID:19645628 PMID:19648736 PMID:19718752 PMID:19744334 PMID:19786220 PMID:19787632 PMID:19888295 PMID:20128824 PMID:20137612 PMID:20146813 PMID:20301640 PMID:20483489 PMID:20553101 PMID:20583162 PMID:20597900 PMID:20601923 PMID:20621367 PMID:20668687 PMID:20826203 PMID:20842945 PMID:20981092 PMID:21045265 PMID:21154317 PMID:21366435 PMID:21416585 PMID:21551164 PMID:21557232 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116359 PMID:22116360 PMID:22285650 PMID:22289209 PMID:22384008 PMID:22389666 PMID:22412181 PMID:22717225 PMID:22796198 PMID:22884721 PMID:22903915 PMID:22975760 PMID:23151025 PMID:23151031 PMID:23185506 PMID:23208854 PMID:23266159 PMID:23273637 PMID:23280318 PMID:23296490 PMID:23336812 PMID:23385134 PMID:23401162 PMID:23504402 PMID:23555729 PMID:23617710 PMID:23638949 PMID:23705809 PMID:23718755 PMID:23770805 PMID:23804846 PMID:23838540 PMID:23918157 PMID:23958391 PMID:23965030 PMID:23967202 PMID:23980138 PMID:24007330 PMID:24033266 PMID:24051746 PMID:24105851 PMID:24156272 PMID:24222258 PMID:24224479 PMID:24245694 PMID:24248179 PMID:24338212 PMID:24341454 PMID:24599119 PMID:24612839 PMID:24804242 PMID:24853665 PMID:24860705 PMID:24875928 PMID:24913939 PMID:24949729 PMID:25015771 PMID:25149764 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25358692 PMID:25372295 PMID:25373420 PMID:25394566 PMID:25468468 PMID:25488846 PMID:25491636 PMID:25525159 PMID:25528277 PMID:25587757 PMID:25724631 PMID:25741868 PMID:25761933 PMID:25788563 PMID:25830873 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26022370 PMID:26035154 PMID:26100058 PMID:26188157 PMID:26226137 PMID:26252218 PMID:26346818 PMID:26397989 PMID:26445815 PMID:26467025 PMID:26485571 PMID:26549381 PMID:26683941 PMID:26744121 PMID:26752218 PMID:26763877 PMID:26764160 PMID:26886089 PMID:26894580 PMID:26900070 PMID:26969326 PMID:27068579 PMID:27090054 PMID:27214836 PMID:27240500 PMID:27247933 PMID:27344577 PMID:27373559 PMID:27466889 PMID:27541434 PMID:27573290 PMID:27610647 PMID:27771369 PMID:27792752 PMID:27861301 PMID:27863619 PMID:27884173 PMID:27997596 PMID:28000701 PMID:28215547 PMID:28273078 PMID:28281779 PMID:28341401 PMID:28389359 PMID:28444304 PMID:28492532 PMID:28576516 PMID:28604962 PMID:28717060 PMID:28786104 PMID:28941661 PMID:28964290 PMID:28984810 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29372807 PMID:29501320 PMID:29546359 PMID:29605365 PMID:29739340 PMID:29907799 PMID:30068397 PMID:30077349 PMID:30086623 PMID:30113565 PMID:30139988 PMID:30154845 PMID:30240412 PMID:30245029 PMID:30268946 PMID:30303587 PMID:30311386 PMID:30484383 PMID:30622556 PMID:30693673 PMID:30760291 PMID:30842343 PMID:30896630 PMID:31020658 PMID:31033086 PMID:31035178 PMID:31095577 PMID:31124793 PMID:31387071 PMID:31427586 PMID:31541171 PMID:31581539 PMID:31589614 PMID:31599023 PMID:31633822 PMID:31656273 PMID:31700827 PMID:31971949 PMID:32165640 PMID:32417962 PMID:32447495 PMID:32459320 PMID:32645618 PMID:32658404 PMID:32681043 PMID:32747562 PMID:32770655 PMID:33111345 PMID:33152970 PMID:33199029 PMID:33502066 PMID:33597575 PMID:33614372 PMID:33801843 PMID:34161886 PMID:34170635 PMID:34171171 PMID:34410491 PMID:34545167 PMID:34599368 PMID:34801268 PMID:35802133 PMID:36633841 PMID:15355436 PMID:14508505 PMID:11152663 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
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: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
OMIM ClinVar
PMID:3451231 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 PMID:9657379 PMID:9709973 PMID:9745458 PMID:9814502 PMID:10487695 PMID:10902780 PMID:12161518 PMID:21565787 PMID:25525159 PMID:25741868 PMID:28492532 PMID:32805706 More...
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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
OMIM ClinVar
PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 PMID:9814507 PMID:10084596 PMID:10468986 PMID:11061528 PMID:11238503 PMID:11916616 PMID:12213873 PMID:12843174 PMID:12938097 PMID:14751036 PMID:15055360 PMID:15279913 PMID:15745925 PMID:17468186 PMID:17547680 PMID:18029453 PMID:23236987 PMID:23512414 PMID:24482635 PMID:24790296 PMID:25241611 PMID:25564141 PMID:25741868 PMID:26565538 PMID:27373559 PMID:27617131 PMID:28492532 PMID:29546359 PMID:30022773 PMID:30240412 PMID:31430255 PMID:32424871 PMID:32425884 PMID:32765423 PMID:34426522 PMID:35002963 More...
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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Sla
src-like adaptor
ISO
ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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Tg
thyroglobulin
susceptibility
ISO
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 PMID:9588493 PMID:10199792 PMID:10403171 PMID:10404833 PMID:11484898 PMID:12915634 PMID:14657345 PMID:14764776 PMID:15579800 PMID:15611820 PMID:15769978 PMID:16187910 PMID:16187918 PMID:16199547 PMID:16403815 PMID:16477365 PMID:16720658 PMID:17033963 PMID:17244789 PMID:19339519 PMID:19438905 PMID:19837936 PMID:20410234 PMID:20447071 PMID:20981092 PMID:21128992 PMID:21372558 PMID:21900383 PMID:21958696 PMID:23164529 PMID:23455760 PMID:23457309 PMID:23535966 PMID:23933148 PMID:24033266 PMID:25741868 PMID:26595189 PMID:26742565 PMID:26777470 PMID:26813946 PMID:27373559 PMID:27498126 PMID:28492532 PMID:29590070 PMID:31042289 PMID:34248839 PMID:34780050 More...
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Iyd
iodotyrosine deiodinase
ISO
ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
OMIM ClinVar
PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 PMID:28492532 More...
NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319
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Duoxa2
dual oxidase maturation factor 2
ISO
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5
OMIM ClinVar
PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 PMID:30110704 PMID:31044655 PMID:32252219 PMID:32860008 More...
NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
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Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6
OMIM ClinVar
PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 PMID:16608528 PMID:17121535 PMID:17374849 PMID:17576681 PMID:18765513 PMID:19789206 PMID:20187165 PMID:20972728 PMID:21565790 PMID:21900383 PMID:22336364 PMID:23457309 PMID:24033266 PMID:24127536 PMID:24423310 PMID:24735383 PMID:25248169 PMID:25616291 PMID:25741868 PMID:25928756 PMID:26301257 PMID:26334177 PMID:26349762 PMID:26565538 PMID:26709262 PMID:26742565 PMID:26990548 PMID:27108200 PMID:27166716 PMID:27349010 PMID:27498126 PMID:27525530 PMID:27557340 PMID:27821020 PMID:28444304 PMID:28492532 PMID:28541007 PMID:28648510 PMID:28666341 PMID:28683258 PMID:29092890 PMID:29546359 PMID:29650690 PMID:30022773 PMID:30084132 PMID:30154845 PMID:30240412 PMID:30487145 PMID:30512158 PMID:30894704 PMID:31030636 PMID:31044655 PMID:32319661 PMID:32425884 PMID:32459320 PMID:32765423 PMID:33631011 PMID:34248839 PMID:34276565 PMID:34564849 More...
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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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
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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
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Thrb
thyroid hormone receptor beta
susceptibility
ISO
DNA:missense mutation:exon:p.I276L (human) ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1324420 PMID:1400869 PMID:1548332 PMID:8013151 PMID:8828460 PMID:9349583 PMID:9804773 PMID:10660344 PMID:20808683 PMID:22947347 PMID:25040256 PMID:25741868 PMID:26273722 PMID:26467025 PMID:28235578 PMID:30430796 PMID:30497070 PMID:15913586 More...
RGD:1601659
NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
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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
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Trh
thyrotropin releasing hormone
ISO
ClinVar Annotator: match by term: Hypothalamic hypothyroidism
OMIM ClinVar
PMID:25741868
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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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
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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
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Weaver syndrome
OMIM ClinVar
PMID:4366187 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22177091 PMID:22190405 PMID:23680131 PMID:24214728 PMID:24728327 PMID:25741868 PMID:26380986 PMID:26694085 PMID:28492532 PMID:29802153 PMID:30613354 PMID:31785789 PMID:32243864 More...
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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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
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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
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