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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital hypothyroidism
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Accession:DOID:0050328 term browser browse the term
Definition:A hypothyroidism that is present at birth. (DO)
Synonyms:exact_synonym: Cretinism;   Endemic Cretinism;   Fetal Iodine Deficiency Disorder;   congenital myxedema
 narrow_synonym: experimental congenital hypothyroidism
 primary_id: MESH:D003409
 alt_id: OMIM:228355
 xref: GARD:1487;   ICD10CM:E00.1;   ICD9CM:243;   NCI:C26734;   NCI:C98921;   OMIM:PS275200


show annotations for term's descendants           Sort by:
congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC5 actin related protein 2/3 complex subunit 5 ISO protein:decreased expression:frontal cortex (rat) RGD PMID:23459330 RGD:11049475 NCBI chr 1:159,156,229...159,165,898
Ensembl chr 1:163,311,111...163,323,554 		JBrowse link
G ATP5PD ATP synthase peripheral stalk subunit d ISO protein:altered expression:cerebral cortex (rat) RGD PMID:21575372 RGD:11049155 NCBI chr17:68,986,362...68,994,246
Ensembl chr17:74,541,363...74,549,700 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO mRNA,protein:decreased expression:skull, serum RGD PMID:7920889 RGD:6483557 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432 		JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:12110737 PMID:16322276 PMID:16608528 PMID:17121535 PMID:18765513 More... NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749 NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974 		JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:23079472 RGD:10395304 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260 		JBrowse link
G FOXE1 forkhead box E1 ISO MouseDO NCBI chr 9:68,943,747...68,947,226 JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:decreased expression:hippocampus RGD PMID:23693027 RGD:10449124 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674 		JBrowse link
G GHR growth hormone receptor treatment ISO RGD PMID:21162131 RGD:10003146 NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:serum (rat) RGD PMID:1718729 RGD:12910128 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143598 NCBI chr  X:120,406,725...120,422,636
Ensembl chr  X:130,714,061...130,729,963 		JBrowse link
G INHBB inhibin subunit beta B ISO mRNA:decreased expression:testes (rat) RGD PMID:7819453 RGD:9743921 NCBI chr2B:7,278,944...7,284,632 JBrowse link
G IYD iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 6:148,178,638...148,216,122
Ensembl chr 6:152,886,373...152,922,152 		JBrowse link
G LOC100971425 somatotropin treatment ISO RGD PMID:21162131 RGD:10003146 NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067 		JBrowse link
G NEFH neurofilament heavy chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr22:10,525,738...10,536,788 JBrowse link
G NEFL neurofilament light chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694 		JBrowse link
G NEFM neurofilament medium chain ISO protein:decreased expression, increased phosphorylation RGD PMID:18845185 RGD:9693732 NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468 		JBrowse link
G NGFR nerve growth factor receptor treatment ISO RGD PMID:23312094 RGD:10414076 NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966 		JBrowse link
G PAX8 paired box 8 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:16763387 PMID:25146893 PMID:26362610 NCBI chr2A:88,845,877...88,905,266
Ensembl chr2A:114,162,110...114,222,865 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:20515651 RGD:10059677 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO MouseDO NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637 		JBrowse link
G SLC26A7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:31372509 NCBI chr 8:87,908,807...88,057,623
Ensembl chr 8:89,861,279...90,009,899 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:3998954 PMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749 NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480 		JBrowse link
G TG thyroglobulin ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 More... NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918 		JBrowse link
G TPO thyroid peroxidase ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055 		JBrowse link
G TRHR thyrotropin releasing hormone receptor ISO MouseDO NCBI chr 8:105,739,651...105,780,470
Ensembl chr 8:107,886,593...107,918,825 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028 		JBrowse link
G TSHR thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:11442002 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 More... NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890 		JBrowse link
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Congenital hypothyroidism ClinVar PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 More... NCBI chr20:55,370,122...55,377,616
Ensembl chr20:56,730,882...56,738,741 		JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,434,357...3,448,471
Ensembl chr14:21,535,753...21,549,856 		JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,878,426...3,915,802
Ensembl chr14:21,975,370...22,012,092 		JBrowse link
G ADCY4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,094,899...5,111,603
Ensembl chr14:23,218,178...23,234,861 		JBrowse link
G AJUBA ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700 		JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166 		JBrowse link
G ANG angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393 		JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,378,017...4,386,319
Ensembl chr14:22,471,343...22,479,801 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239 		JBrowse link
G ARF6 ADP ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,482,191...30,486,741
Ensembl chr14:48,789,329...48,789,856 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,844,042...12,934,411
Ensembl chr14:31,036,511...31,125,349 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466 		JBrowse link
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473 		JBrowse link
G BRMS1L BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,579,323...16,628,005
Ensembl chr14:34,759,935...34,807,803 		JBrowse link
G C15H14orf119 chromosome 15 C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,915,675...3,918,781 JBrowse link
G C15H14orf28 chromosome 15 C14orf28 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,514,741...25,524,710
Ensembl chr14:43,843,018...43,852,917 		JBrowse link
G C15H14orf93 chromosome 15 C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,807,076...3,830,892
Ensembl chr14:21,905,028...21,928,242 		JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,830,041...4,847,897
Ensembl chr14:22,954,274...22,971,981 		JBrowse link
G CBLN3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,200,297...5,206,018 JBrowse link
G CDH24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,866,958...3,877,393
Ensembl chr14:21,964,897...21,972,528 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361 		JBrowse link
G CHMP4A charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,985,642...4,989,985 JBrowse link
G CLEC14A C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,014,672...19,018,551
Ensembl chr14:37,374,493...37,375,965 		JBrowse link
G CMA1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548 		JBrowse link
G CMTM5 CKLF like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,195,460...4,198,422
Ensembl chr14:22,290,354...22,292,592 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943 		JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,848,845...4,856,085
Ensembl chr14:22,973,157...22,980,341 		JBrowse link
G CTSG cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,342,517...5,345,218
Ensembl chr14:23,466,265...23,468,960 		JBrowse link
G DAD1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,401,048...3,425,359
Ensembl chr14:21,502,618...21,526,793 		JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,890,956...4,900,296
Ensembl chr14:23,015,680...23,024,650 		JBrowse link
G DHRS1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,066,996...5,076,229
Ensembl chr14:23,190,323...23,199,587 		JBrowse link
G DHRS4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 Ensembl chr14:22,831,756...22,846,695 JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800 		JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,222,744...12,234,227
Ensembl chr14:30,419,810...30,431,296 		JBrowse link
G EAPP E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,273,149...15,297,241
Ensembl chr14:33,462,959...33,485,186 		JBrowse link
G EDDM3A epididymal protein 3A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,608,955...1,610,069
Ensembl chr14:19,666,172...19,666,615 		JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,630,027...1,632,566
Ensembl chr14:19,688,641...19,689,084 		JBrowse link
G EFS embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,174,676...4,185,215
Ensembl chr14:22,270,952...22,278,732 		JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241 		JBrowse link
G EMC9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,915,214...4,917,889
Ensembl chr14:23,039,400...23,042,054 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958 		JBrowse link
G FBXO33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,170,332...20,205,181
Ensembl chr14:38,526,437...38,558,626 		JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,906,504...4,909,119
Ensembl chr14:23,031,818...23,033,459 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,732,308...25,750,885
Ensembl chr14:44,060,160...44,078,742 		JBrowse link
G FOXA1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,347,284...18,352,705 JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,124,746...25,127,510 JBrowse link
G G2E3 G2/M-phase specific E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,338,212...11,398,545
Ensembl chr14:29,484,584...29,539,430 		JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,884,100...19,906,823
Ensembl chr14:38,240,379...38,261,925 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,008,664...5,015,461
Ensembl chr14:23,132,227...23,139,044 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789 		JBrowse link
G GZMB granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,399,888...5,403,200
Ensembl chr14:23,523,619...23,526,931 		JBrowse link
G GZMH granzyme H ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,375,775...5,379,021
Ensembl chr14:23,499,513...23,502,674 		JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,766,343...3,777,591
Ensembl chr14:21,865,257...21,875,756 		JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,070,011...12,230,065
Ensembl chr14:30,267,861...30,395,893 		JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,871,973...11,979,548
Ensembl chr14:30,070,567...30,176,915 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,022,280...2,083,215 JBrowse link
G HOMEZ homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,093,357...4,106,323
Ensembl chr14:22,188,881...22,200,496 		JBrowse link
G IL25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498 		JBrowse link
G INSM2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,287,866...16,290,884 JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,956,456...4,965,305
Ensembl chr14:23,079,910...23,088,610 		JBrowse link
G IRF9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824 		JBrowse link
G JPH4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,386,487...4,397,552
Ensembl chr14:22,479,813...22,490,924 		JBrowse link
G KHNYN KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,205,650...5,216,436
Ensembl chr14:23,329,932...23,340,966 		JBrowse link
G KLHDC1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,272,009...30,334,693
Ensembl chr14:48,580,779...48,642,724 		JBrowse link
G KLHDC2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105 		JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,540,348...25,578,933
Ensembl chr14:43,869,220...43,905,989 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993 		JBrowse link
G LOC100976049 dehydrogenase/reductase SDR family member 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,457,316...4,466,551
Ensembl chr14:22,551,645...22,558,926 		JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G LOC100979193 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,076,270...5,085,596
Ensembl chr14:23,199,608...23,208,877 		JBrowse link
G LOC100980742 putative uncharacterized protein encoded by LINC01599 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,671,031...30,680,109 JBrowse link
G LOC100980776 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,474,364...2,475,305
Ensembl chr14:20,591,011...20,591,952 		JBrowse link
G LOC100981889 non-secretory ribonuclease ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,759,482...1,760,873
Ensembl chr14:19,841,364...19,841,849 		JBrowse link
G LOC100987236 signal recognition particle subunit SRP54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151 		JBrowse link
G LOC100988821 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,969,308...1,970,494
Ensembl chr14:20,051,042...20,052,130 		JBrowse link
G LOC100992784 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,386,394...2,387,532
Ensembl chr14:20,462,044...20,462,985 		JBrowse link
G LOC100993494 olfactory receptor 10G2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,418,780...2,419,723 JBrowse link
G LRFN5 leucine rich repeat and fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,185,289...22,480,641
Ensembl chr14:40,676,278...40,814,212 		JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936 		JBrowse link
G LRR1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,176,924...30,192,847
Ensembl chr14:48,486,914...48,502,794 		JBrowse link
G LTB4R leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,088,907...5,094,571
Ensembl chr14:23,215,469...23,216,527 		JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746 		JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:27,434,904...28,274,969
Ensembl chr14:45,752,214...46,583,991 		JBrowse link
G MDP1 magnesium dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,987,859...4,992,300
Ensembl chr14:23,112,062...23,116,606 		JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,804,655...1,811,771
Ensembl chr14:19,886,675...19,893,901 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,199,011...30,201,566 JBrowse link
G MIA2 MIA SH3 domain ER export factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,006,513...20,123,814
Ensembl chr14:38,361,828...38,513,998 		JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352 		JBrowse link
G MIS18BP1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,819,302...25,869,819
Ensembl chr14:44,147,183...44,189,888 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058 		JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,647,387...3,651,940
Ensembl chr14:21,746,646...21,751,108 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331 		JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,831,764...1,840,819
Ensembl chr14:19,913,674...19,967,470 		JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,993,011...5,008,620
Ensembl chr14:23,117,271...23,132,249 		JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,155,331...16,158,588 JBrowse link
G NGDN neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,288,325...4,296,671
Ensembl chr14:22,382,334...22,390,718 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM
ClinVar		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More...
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339 		JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:7,193,308...7,345,535
Ensembl chr14:25,314,077...25,466,861 		JBrowse link
G NPAS3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:13,701,786...14,568,738
Ensembl chr14:31,893,101...32,758,096 		JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,338,341...12,628,346 JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,126,179...4,144,810
Ensembl chr14:22,220,986...22,239,403 		JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,872,276...4,882,118
Ensembl chr14:22,996,813...23,006,775 		JBrowse link
G PNN pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,945,185...19,952,922
Ensembl chr14:38,300,782...38,308,512 		JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,222,957...30,268,455
Ensembl chr14:48,531,945...48,576,700 		JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,118,827...4,122,294
Ensembl chr14:22,215,635...22,216,794 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842 		JBrowse link
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,700,636...25,732,012
Ensembl chr14:44,027,452...44,059,865 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347 		JBrowse link
G PSMB11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,861,823...3,863,949
Ensembl chr14:21,959,146...21,960,048 		JBrowse link
G PSMB5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,845,951...3,855,335
Ensembl chr14:21,943,432...21,952,169 		JBrowse link
G PSME1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405 		JBrowse link
G PSME2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,276,798...2,294,730
Ensembl chr14:20,353,701...20,371,629 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,041,694...5,047,775
Ensembl chr14:23,163,034...23,171,311 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430 		JBrowse link
G RBM23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,710,492...3,736,415
Ensembl chr14:21,817,434...21,835,668 		JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948 		JBrowse link
G REM2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,700,397...3,704,897
Ensembl chr14:21,800,155...21,804,692 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,663,595...1,665,121
Ensembl chr14:19,720,127...19,720,597 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,847,810...1,849,797 JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201 		JBrowse link
G RNASE6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,642,819...1,644,582
Ensembl chr14:19,700,536...19,700,988 		JBrowse link
G RNASE7 ribonuclease A family member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,857,213...1,858,781
Ensembl chr14:19,939,884...19,940,354 		JBrowse link
G RNASE8 ribonuclease A family member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,872,595...1,873,331
Ensembl chr14:19,954,680...19,955,147 		JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,056,671...4,093,210
Ensembl chr14:22,153,247...22,188,319 		JBrowse link
G RNF31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064 		JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:27,254,150...27,255,381
Ensembl chr14:45,565,079...45,565,723 		JBrowse link
G RPL36AL ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,196,924...30,198,944
Ensembl chr14:48,506,945...48,507,265 		JBrowse link
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,155,559...30,164,677 JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,338,806...2,354,970
Ensembl chr14:20,416,071...20,431,000 		JBrowse link
G SCFD1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,401,378...11,508,418
Ensembl chr14:29,602,241...29,709,133 		JBrowse link
G SDR39U1 short chain dehydrogenase/reductase family 39U member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,216,102...5,219,234
Ensembl chr14:23,339,388...23,342,423 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,802,612...19,873,076
Ensembl chr14:38,159,381...38,229,550 		JBrowse link
G SLC22A17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,165,419...4,172,002
Ensembl chr14:22,260,079...22,266,667 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,813,992...1,818,226
Ensembl chr14:19,896,112...19,898,728 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112 		JBrowse link
G SNX6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,319,526...15,388,326
Ensembl chr14:33,511,019...33,576,705 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,190,833...15,219,882 JBrowse link
G SSTR1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,968,969...18,973,560
Ensembl chr14:37,329,309...37,330,484 		JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,668,426...11,798,776
Ensembl chr14:29,869,414...29,997,838 		JBrowse link
G STXBP6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,578,254...5,819,152 JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477 		JBrowse link
G THTPA thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,374,439...4,378,028
Ensembl chr14:22,467,506...22,471,356 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825 		JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,965,352...4,972,476 JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,913,655...1,917,874 JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042 		JBrowse link
G TOX4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,294,892...2,316,901
Ensembl chr14:20,371,820...20,393,696 		JBrowse link
G TPPP2 tubulin polymerization promoting protein family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,839,314...1,847,789
Ensembl chr14:19,927,478...19,928,973 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,917,745...19,940,589
Ensembl chr14:38,273,526...38,296,231 		JBrowse link
G TSSK4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,980,178...4,984,291
Ensembl chr14:23,104,197...23,108,037 		JBrowse link
G TTC6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,363,956...18,601,589
Ensembl chr14:36,740,892...36,962,078 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,695,992...30,707,327
Ensembl chr14:49,002,181...49,013,187 		JBrowse link
G ZFHX2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,339,326...4,370,756
Ensembl chr14:22,433,148...22,463,925 		JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,904,632...1,919,304
Ensembl chr14:19,986,653...20,000,300 		JBrowse link
Congenital Nongoitrous Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP128 centrosomal protein 128 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:120,406,725...120,422,636
Ensembl chr  X:130,714,061...130,729,963 		JBrowse link
G TPO thyroid peroxidase ISO ClinVar Annotator: match by term: TSH RESISTANCE ClinVar PMID:25741868 NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055 		JBrowse link
G TSHR thyroid stimulating hormone receptor 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 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890 		JBrowse link
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447 		JBrowse link
G IGSF1 immunoglobulin superfamily member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:120,406,725...120,422,636
Ensembl chr  X:130,714,061...130,729,963 		JBrowse link
G TPO thyroid peroxidase ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055 		JBrowse link
G TSHR thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890 		JBrowse link
congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: Ectopic thyroid ClinVar PMID:32989326 PMID:33675180 NCBI chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104 		JBrowse link
G 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 More... NCBI chr2A:88,845,877...88,905,266
Ensembl chr2A:114,162,110...114,222,865 		JBrowse link
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSHB thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Pituitary cretinism OMIM
ClinVar		 PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028 		JBrowse link
congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809 PMID:25741868 PMID:34008892 NCBI chr17:17,188,390...17,196,315
Ensembl chr17:17,409,669...17,417,600 		JBrowse link
G THRA thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 OMIM
ClinVar		 PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 More... NCBI chr17:17,196,459...17,226,263 JBrowse link
congenital nongoitrous hypothyroidism 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRHR thyrotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 OMIM
ClinVar		 PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 NCBI chr 8:105,739,651...105,780,470
Ensembl chr 8:107,886,593...107,918,825 		JBrowse link
congenital nongoitrous hypothyroidism 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBL1X transducin beta like 1 X-linked ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 OMIM
ClinVar		 PMID:25741868 PMID:27603907 PMID:30591955 NCBI chr  X:2,096,684...2,352,951
Ensembl chr  X:9,525,194...9,604,290 		JBrowse link
congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRS4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 OMIM
ClinVar		 PMID:25741868 PMID:30061370 NCBI chr  X:97,818,895...97,835,986
Ensembl chr  X:108,202,208...108,205,821 		JBrowse link
familial thyroid dyshormonogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16322276 PMID:18765513 PMID:20972728 PMID:21565790 More... NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480 		JBrowse link
G TG thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar PMID:28492532 NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918 		JBrowse link
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLIS3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: 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 More... NCBI chr 9:3,633,416...4,125,420
Ensembl chr 9:3,827,712...4,300,658 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome OMIM
ClinVar		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		JBrowse link
G UBE3B ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216 		JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chr16:1,953,439...1,956,349
Ensembl chr16:3,127,610...3,128,263 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 5:136,876,396...136,980,097 JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition ClinVar PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:165,468,600...165,473,088
Ensembl chr 5:172,228,840...172,232,692 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr 1:135,391,321...135,424,100 JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278 		JBrowse link
G 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 | ClinVar Annotator: match by term: SLC26A4-related condition OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637 		JBrowse link
thyroid dyshormonogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC5A5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 OMIM
ClinVar		 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More... NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480 		JBrowse link
thyroid dyshormonogenesis 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPO thyroid peroxidase ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A OMIM
ClinVar		 PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055 		JBrowse link
thyroid dyshormonogenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLA Src like adaptor ISO ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:129,690,546...129,757,660
Ensembl chr 8:132,666,411...132,732,669 		JBrowse link
G TG thyroglobulin ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar
OMIM		 PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More... NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918 		JBrowse link
thyroid dyshormonogenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IYD iodotyrosine deiodinase ISO ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4 OMIM
ClinVar		 PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More... NCBI chr 6:148,178,638...148,216,122
Ensembl chr 6:152,886,373...152,922,152 		JBrowse link
thyroid dyshormonogenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 OMIM
ClinVar		 PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 More... NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974 		JBrowse link
thyroid dyshormonogenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 OMIM
ClinVar		 PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 More... NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281 		JBrowse link
Weaver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6H7orf33 chromosome 6 C7orf33 homolog ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:140,317,024...140,342,184
Ensembl chr 7:152,798,008...152,823,097 		JBrowse link
G CNTNAP2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818 		JBrowse link
G CUL1 cullin 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:28492532 NCBI chr 7:140,428,442...140,531,136
Ensembl chr 7:152,908,303...153,011,254 		JBrowse link
G 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:17576681 PMID:18414213 PMID:22177091 More... NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G LOC103785028 polycomb protein SUZ12 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:25741868 PMID:30019515 NCBI chr17:24,790,921...24,853,790 JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Weaver syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital hypothyroidism 228
        Biologically Inactive Thyrotropin 0
        Brain-Lung-Thyroid Syndrome 174
        Congenital Nongoitrous Hypothyroidism + 13
        Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
        Kocher-Debre-Semelaigne Syndrome 0
        Ohdo syndrome, SBBYS variant 3
        Weaver syndrome 6
        familial thyroid dyshormonogenesis + 14
        neonatal diabetes mellitus with congenital hypothyroidism 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2299
              Dwarfism 851
                congenital hypothyroidism 228
                  Biologically Inactive Thyrotropin 0
                  Brain-Lung-Thyroid Syndrome 174
                  Congenital Nongoitrous Hypothyroidism + 13
                  Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
                  Kocher-Debre-Semelaigne Syndrome 0
                  Ohdo syndrome, SBBYS variant 3
                  Weaver syndrome 6
                  familial thyroid dyshormonogenesis + 14
                  neonatal diabetes mellitus with congenital hypothyroidism 1
paths to the root