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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:Brain-Lung-Thyroid Syndrome
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Accession:DOID:9004758 term browser browse the term
Synonyms:exact_synonym: CAHTP;   choreoathetosis and congenital hypothyroidism;   choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction;   choreoathetosis, hypothyroidism, and neonatal respiratory distress
 primary_id: MESH:C567034
 alt_id: OMIM:610978
 xref: NCI:C202546


show annotations for term's descendants           Sort by:
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,598,300...22,612,963
Ensembl chr14:22,598,290...22,612,963 		JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,058,564...23,095,614
Ensembl chr14:23,058,564...23,095,614 		JBrowse link
G ADCY4 adenylate cyclase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,318,359...24,335,071
Ensembl chr14:24,318,349...24,335,093 		JBrowse link
G AJUBA ajuba LIM protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,971,177...22,982,551
Ensembl chr14:22,971,177...22,982,551 		JBrowse link
G AKAP6 A-kinase anchoring protein 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684 		JBrowse link
G ANG angiogenin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G AP1G2 adaptor related protein complex 1 subunit gamma 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,559,567...23,567,791
Ensembl chr14:23,559,565...23,568,070 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G ARF6 ADP ribosylation factor 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,893,082...49,897,054
Ensembl chr14:49,893,079...49,897,054 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,077,304...32,159,728
Ensembl chr14:32,076,114...32,159,728 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,061,264...21,090,248
Ensembl chr14:21,070,273...21,090,248 		JBrowse link
G BAZ1A bromodomain adjacent to zinc finger domain 1A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647 		JBrowse link
G BCL2L2 BCL2 like 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,751 		JBrowse link
G BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,306,833...23,326,163
Ensembl chr14:23,306,833...23,326,175 		JBrowse link
G BRMS1L BRMS1 like transcriptional repressor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,826,338...35,871,963
Ensembl chr14:35,826,338...35,932,325 		JBrowse link
G C14orf119 chromosome 14 open reading frame 119 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,095,505...23,100,456
Ensembl chr14:23,095,505...23,100,456 		JBrowse link
G C14orf28 chromosome 14 open reading frame 28 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,897,275...44,907,257
Ensembl chr14:44,897,275...44,907,257 		JBrowse link
G C14orf93 chromosome 14 open reading frame 93 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,985,894...23,010,143
Ensembl chr14:22,985,894...23,010,166 		JBrowse link
G CARMIL3 capping protein regulator and myosin 1 linker 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,052,009...24,069,729
Ensembl chr14:24,052,009...24,069,729 		JBrowse link
G CBLN3 cerebellin 3 precursor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,426,545...24,429,668
Ensembl chr14:24,426,545...24,430,954 		JBrowse link
G CDH24 cadherin 24 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,047,067...23,057,520
Ensembl chr14:23,047,062...23,057,538 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256 		JBrowse link
G CFL2 cofilin 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHMP4A charged multivesicular body protein 4A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,209,615...24,213,488
Ensembl chr14:24,209,615...24,213,830 		JBrowse link
G CIDEB cell death inducing DFFA like effector b IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,305,187...24,311,435
Ensembl chr14:24,305,187...24,311,430 		JBrowse link
G CLEC14A C-type lectin domain containing 14A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:38,254,000...38,256,093
Ensembl chr14:38,254,000...38,256,093 		JBrowse link
G CMA1 chymase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265 		JBrowse link
G CMTM5 CKLF like MARVEL transmembrane domain containing 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,376,771...23,379,772
Ensembl chr14:23,376,773...23,379,772 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G CPNE6 copine 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,070,949...24,078,087
Ensembl chr14:24,070,837...24,078,100 		JBrowse link
G CTSG cathepsin G IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,573,518...24,576,250
Ensembl chr14:24,573,518...24,576,250 		JBrowse link
G DAD1 defender against cell death 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,564,907...22,589,224
Ensembl chr14:22,564,907...22,589,224 		JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,114,777...24,125,242
Ensembl chr14:24,114,195...24,125,242 		JBrowse link
G DHRS1 dehydrogenase/reductase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,290,598...24,299,780
Ensembl chr14:24,290,598...24,299,780 		JBrowse link
G DHRS2 dehydrogenase/reductase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,630,115...23,645,639
Ensembl chr14:23,630,115...23,645,639 		JBrowse link
G DHRS4 dehydrogenase/reductase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,953,770...23,969,279
Ensembl chr14:23,953,734...23,969,279 		JBrowse link
G DHRS4L1 dehydrogenase/reductase 4 like 1 (pseudogene) IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,007,084...24,051,377
Ensembl chr14:23,969,931...24,051,377
Ensembl chr14:23,969,931...24,051,377 		JBrowse link
G DHRS4L2 dehydrogenase/reductase 4 like 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,969,874...24,006,408
Ensembl chr14:23,969,874...24,006,408 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506 		JBrowse link
G EAPP E2F associated phosphoprotein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,515,938...34,539,701
Ensembl chr14:34,515,938...34,539,704 		JBrowse link
G EDDM3A epididymal protein 3A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,735,946...20,748,380
Ensembl chr14:20,745,887...20,748,380 		JBrowse link
G EDDM3B epididymal protein 3B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,768,404...20,770,948
Ensembl chr14:20,768,404...20,770,948 		JBrowse link
G EFS embryonal Fyn-associated substrate IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,356,406...23,365,172
Ensembl chr14:23,356,403...23,365,752 		JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:33,924,227...33,951,074
Ensembl chr14:33,924,227...34,462,774 		JBrowse link
G EMC9 ER membrane protein complex subunit 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,138,965...24,141,591
Ensembl chr14:24,138,959...24,141,591 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,044,907...35,083,383
Ensembl chr14:35,045,117...35,116,630 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO33 F-box protein 33 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,397,684...39,432,433
Ensembl chr14:39,397,684...39,432,466 		JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,130,659...24,132,847
Ensembl chr14:24,130,659...24,132,849 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,115,599...45,134,481
Ensembl chr14:45,115,599...45,135,319 		JBrowse link
G FOXA1 forkhead box A1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059 		JBrowse link
G FOXG1 forkhead box G1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G FSCB fibrous sheath CABYR binding protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,504,149...44,507,283
Ensembl chr14:44,504,149...44,507,283 		JBrowse link
G G2E3 G2/M-phase specific E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,559,158...30,620,064
Ensembl chr14:30,559,158...30,620,064 		JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,114,323...39,136,973
Ensembl chr14:39,114,285...39,136,973 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,232,622...24,239,242
Ensembl chr14:24,232,422...24,239,242 		JBrowse link
G GPR33 G protein-coupled receptor 33 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039 		JBrowse link
G GZMB granzyme B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,630,954...24,634,190
Ensembl chr14:24,630,954...24,634,267 		JBrowse link
G GZMH granzyme H IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,606,480...24,609,685
Ensembl chr14:24,606,480...24,609,699 		JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,946,228...22,957,090
Ensembl chr14:22,946,228...22,957,161 		JBrowse link
G HEATR5A HEAT repeat containing 5A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550 		JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,100,117...31,207,793
Ensembl chr14:31,100,117...31,207,804 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494 		JBrowse link
G HOMEZ homeobox and leucine zipper encoding IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,272,422...23,286,132
Ensembl chr14:23,272,422...23,299,796 		JBrowse link
G IL25 interleukin 25 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,372,809...23,376,403
Ensembl chr14:23,372,809...23,376,403 		JBrowse link
G INSM2 INSM transcriptional repressor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,534,164...35,537,054
Ensembl chr14:35,534,164...35,537,054 		JBrowse link
G IPO4 importin 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,180,219...24,188,816
Ensembl chr14:24,180,219...24,188,869 		JBrowse link
G IRF9 interferon regulatory factor 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,161,265...24,166,565
Ensembl chr14:24,161,234...24,168,043 		JBrowse link
G JPH4 junctophilin 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,568,038...23,578,790
Ensembl chr14:23,568,038...23,578,790 		JBrowse link
G KHNYN KH and NYN domain containing IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,423,165...24,441,843
Ensembl chr14:24,429,286...24,441,843 		JBrowse link
G KLHDC1 kelch domain containing 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,693,120...49,753,150
Ensembl chr14:49,693,105...49,753,150 		JBrowse link
G KLHDC2 kelch domain containing 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,768,153...49,786,385
Ensembl chr14:49,768,130...49,786,385 		JBrowse link
G KLHL28 kelch like family member 28 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,924,324...44,961,947
Ensembl chr14:44,924,324...45,042,322 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G LINC01588 long intergenic non-protein coding RNA 1588 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,981,669...50,007,520
Ensembl chr14:49,927,571...50,105,102 		JBrowse link
G LINC01599 long intergenic non-protein coding RNA 1599 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,007,313...50,105,043
Ensembl chr14:49,927,571...50,105,102 		JBrowse link
G LRFN5 leucine rich repeat and fibronectin type III domain containing 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:41,606,876...41,904,549
Ensembl chr14:41,606,876...41,904,549 		JBrowse link
G LRP10 LDL receptor related protein 10 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,871,740...22,881,713
Ensembl chr14:22,871,740...22,881,713 		JBrowse link
G LRR1 leucine rich repeat protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,598,940...49,614,672
Ensembl chr14:49,598,761...49,614,672 		JBrowse link
G LTB4R leukotriene B4 receptor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,311,502...24,318,036
Ensembl chr14:24,311,450...24,318,036 		JBrowse link
G LTB4R2 leukotriene B4 receptor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,310,140...24,312,038
Ensembl chr14:24,305,734...24,312,053 		JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,298,564...36,320,637
Ensembl chr14:36,298,564...36,320,637 		JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:46,839,623...47,675,605
Ensembl chr14:46,840,092...47,675,605 		JBrowse link
G MDP1 magnesium dependent phosphatase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,213,943...24,216,066
Ensembl chr14:24,213,943...24,216,070 		JBrowse link
G METTL17 methyltransferase like 17 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,989,980...20,997,035
Ensembl chr14:20,989,973...20,997,035 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,498,138...21,511,340
Ensembl chr14:21,498,133...21,511,342 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MIA2 MIA SH3 domain ER export factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,233,915...39,388,522
Ensembl chr14:39,230,231...39,388,513 		JBrowse link
G MIPOL1 mirror-image polydactyly 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,197,937...37,552,361
Ensembl chr14:37,197,894...37,579,125 		JBrowse link
G MIR208A microRNA 208a IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,388,596...23,388,666
Ensembl chr14:23,388,596...23,388,666 		JBrowse link
G MIR208B microRNA 208b IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,417,987...23,418,063
Ensembl chr14:23,417,987...23,418,063 		JBrowse link
G MIS18BP1 MIS18 binding protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,203,190...45,253,202
Ensembl chr14:45,203,190...45,253,540 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,829,887...22,835,037
Ensembl chr14:22,829,879...22,835,037 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NDRG2 NDRG family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,016,763...21,070,872
Ensembl chr14:21,016,763...21,070,872 		JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,216,857...24,232,367
Ensembl chr14:24,216,857...24,232,367 		JBrowse link
G NEDD8-MDP1 NEDD8-MDP1 readthrough IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,213,943...24,232,367
Ensembl chr14:24,213,955...24,232,352 		JBrowse link
G NEMF nuclear export mediator factor IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,782,083...49,852,788
Ensembl chr14:49,782,083...49,852,821 		JBrowse link
G NFATC4 nuclear factor of activated T cells 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,366,911...24,379,604
Ensembl chr14:24,365,673...24,379,604 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NGDN neuroguidin IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,469,703...23,478,826
Ensembl chr14:23,469,679...23,509,862 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP
EXP		 DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NKX2-1-AS1 NKX2-1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:36,519,278...36,523,016
Ensembl chr14:36,519,278...36,523,016 		JBrowse link
G NKX2-8 NK2 homeobox 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,580,004...36,582,614
Ensembl chr14:36,580,004...36,582,614 		JBrowse link
G NOP9 NOP9 nucleolar protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,271,203...24,309,124
Ensembl chr14:24,299,850...24,309,124 		JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:26,443,090...26,598,033
Ensembl chr14:26,443,090...26,598,033 		JBrowse link
G NPAS3 neuronal PAS domain protein 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:32,934,785...33,804,173
Ensembl chr14:32,934,396...33,820,863 		JBrowse link
G NRL neural retina leucine zipper IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,399,003...24,419,283
Ensembl chr14:24,399,003...24,419,283 		JBrowse link
G OR10G2 olfactory receptor family 10 subfamily G member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,633,836...21,634,940
Ensembl chr14:21,633,836...21,634,940 		JBrowse link
G OR10G3 olfactory receptor family 10 subfamily G member 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,568,520...21,580,076
Ensembl chr14:21,568,520...21,580,076 		JBrowse link
G OR4E2 olfactory receptor family 4 subfamily E member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,653,835...21,667,642
Ensembl chr14:21,653,835...21,667,642 		JBrowse link
G OR5AU1 olfactory receptor family 5 subfamily AU member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,154,865...21,156,063
Ensembl chr14:21,148,370...21,159,060 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,766,688...22,773,042
Ensembl chr14:22,766,522...22,773,042 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163 		JBrowse link
G PAX9 paired box 9 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598 		JBrowse link
G PNN pinin, desmosome associated protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,175,254...39,183,220
Ensembl chr14:39,175,183...39,183,220 		JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,643,555...49,688,214
Ensembl chr14:49,643,555...49,688,422 		JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,295,652...23,302,859
Ensembl chr14:23,295,652...23,302,859 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRKD1 protein kinase D1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:45,084,116...45,116,282
Ensembl chr14:45,084,107...45,116,282 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493 		JBrowse link
G PSMB11 proteasome subunit beta 11 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,042,212...23,044,060
Ensembl chr14:23,042,212...23,044,060 		JBrowse link
G PSMB5 proteasome 20S subunit beta 5 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,025,851...23,035,220
Ensembl chr14:23,016,543...23,035,230 		JBrowse link
G PSME1 proteasome activator subunit 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967 		JBrowse link
G PSME2 proteasome activator subunit 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,143,365...24,146,610
Ensembl chr14:24,143,362...24,147,570 		JBrowse link
G PTCSC3 papillary thyroid carcinoma susceptibility candidate 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,134,890...36,176,722
Ensembl chr14:36,130,677...36,217,284 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,459,020...21,476,959
Ensembl chr14:21,459,020...21,476,960 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,265,538...24,271,627
Ensembl chr14:24,265,538...24,271,611 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
G RBM23 RNA binding motif protein 23 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,893,204...22,919,149
Ensembl chr14:22,893,204...22,919,182 		JBrowse link
G REC8 REC8 meiotic recombination protein IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257 		JBrowse link
G REM2 RRAD and GEM like GTPase 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,883,222...22,887,678
Ensembl chr14:22,883,222...22,887,678 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022 		JBrowse link
G RN7SL1 RNA component of signal recognition particle 7SL1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,586,580...49,586,878
Ensembl chr14:49,586,580...49,586,878 		JBrowse link
G RN7SL2 RNA component of signal recognition particle 7SL2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,862,551...49,862,849
Ensembl chr14:49,862,550...49,862,849 		JBrowse link
G RN7SL3 RNA component of signal recognition particle 7SL3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,853,616...49,853,914
Ensembl chr14:49,853,616...49,853,914 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,801,228...20,802,844
Ensembl chr14:20,801,228...20,802,855 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,032,818...21,034,807
Ensembl chr14:21,032,818...21,034,807 		JBrowse link
G RNASE2 ribonuclease A family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,955,487...20,956,436
Ensembl chr14:20,955,487...20,956,436 		JBrowse link
G RNASE3 ribonuclease A family member 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348 		JBrowse link
G RNASE4 ribonuclease A family member 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216 		JBrowse link
G RNASE6 ribonuclease A family member k6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,781,070...20,782,467
Ensembl chr14:20,781,268...20,782,467 		JBrowse link
G RNASE7 ribonuclease A family member 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,042,362...21,044,233
Ensembl chr14:21,042,316...21,044,234 		JBrowse link
G RNASE8 ribonuclease A family member 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,057,822...21,058,455
Ensembl chr14:21,057,822...21,058,455 		JBrowse link
G RNF212B ring finger protein 212B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,185,336...23,273,477
Ensembl chr14:23,185,316...23,273,477 		JBrowse link
G RNF31 ring finger protein 31 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,146,875...24,160,655
Ensembl chr14:24,146,683...24,160,660 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G RPL36AL ribosomal protein L36a like IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,618,530...49,620,626
Ensembl chr14:49,618,530...49,620,626 		JBrowse link
G RPS29 ribosomal protein S29 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G SALL2 spalt like transcription factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,521,080...21,537,121
Ensembl chr14:21,521,080...21,537,216 		JBrowse link
G SCFD1 sec1 family domain containing 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,622,254...30,735,850
Ensembl chr14:30,622,291...30,737,694 		JBrowse link
G SDR39U1 short chain dehydrogenase/reductase family 39U member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,439,766...24,442,843
Ensembl chr14:24,439,766...24,442,905 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress		 ClinVar PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More... NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,288...36,513,829
Ensembl chr14:36,473,288...36,513,829 		JBrowse link
G SLC22A17 solute carrier family 22 member 17 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,346,311...23,352,887
Ensembl chr14:23,346,314...23,352,912 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,999,293...21,001,871
Ensembl chr14:20,999,255...21,001,871 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,125,295...23,183,660
Ensembl chr14:23,125,295...23,183,674 		JBrowse link
G SNX6 sorting nexin 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,561,093...34,630,148
Ensembl chr14:34,561,093...34,630,160 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240 		JBrowse link
G SRP54 signal recognition particle 54 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SSTR1 somatostatin receptor 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:38,207,904...38,213,067
Ensembl chr14:38,207,904...38,213,067 		JBrowse link
G STRN3 striatin 3 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,893,804...31,026,379
Ensembl chr14:30,893,799...31,026,401 		JBrowse link
G STXBP6 syntaxin binding protein 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,809,454...25,050,147
Ensembl chr14:24,809,454...25,050,147 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019 		JBrowse link
G TGM1 transglutaminase 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G THTPA thiamine triphosphatase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,511,760...23,560,271
Ensembl chr14:23,555,988...23,560,271 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,189,149...24,195,441
Ensembl chr14:24,189,149...24,195,687 		JBrowse link
G TMEM253 transmembrane protein 253 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,098,836...21,103,724
Ensembl chr14:21,098,811...21,103,724 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TOX4 TOX high mobility group box family member 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,477,195...21,499,170
Ensembl chr14:21,476,597...21,499,175 		JBrowse link
G TPPP2 tubulin polymerization promoting protein family member 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,024,299...21,036,352
Ensembl chr14:21,024,109...21,036,276 		JBrowse link
G TRA T cell receptor alpha locus IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,621,904...22,552,132 JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532 		JBrowse link
G TSSK4 testis specific serine kinase 4 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:24,205,696...24,208,248
Ensembl chr14:24,205,696...24,208,362 		JBrowse link
G TTC6 tetratricopeptide repeat domain 6 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:37,595,629...37,842,717
Ensembl chr14:37,595,629...38,041,442 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:50,102,716...50,116,572
Ensembl chr14:50,108,632...50,116,600 		JBrowse link
G ZFHX2 zinc finger homeobox 2 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:23,520,857...23,555,952
Ensembl chr14:23,520,857...23,556,192 		JBrowse link
G ZNF219 zinc finger protein 219 IAGP ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:21,090,077...21,104,722
Ensembl chr14:21,090,077...21,104,722 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    syndrome 18145
      Brain-Lung-Thyroid Syndrome 193
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        central nervous system disease 23611
          brain disease 22049
            movement disease 3287
              Dyskinesias 2694
                Athetosis 196
                  Brain-Lung-Thyroid Syndrome 193
paths to the root