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: newborn respiratory distress syndrome
Accession: DOID:12716
browse the term
Definition: A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. (DO)
Synonyms: exact_synonym: HMD - hyaline membrane disease; NEONATAL RESPIRATORY DISTRESS; Neonatal Respiratory Distress Syndrome; RDS - Infants; infantile respiratory distress syndrome; pulmonary hyaline membrane disease; pulmonary hypoperfusion syndrome of newborn; respiratory distress syndrome of newborn; respiratory distress syndrome, infant
primary_id: MESH:D012127
alt_id: DOID:9002636; MESH:C538359 ; OMIA:000101
xref: EFO:1000644 ; ICD10CM:P22.0
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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CAT
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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DES
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 More...
NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
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DYNC2H1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
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EPAS1
endothelial PAS domain protein 1
ISO
OMIM:267450
MouseDO
NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
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GJB2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
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HMOX1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:19837405 PMID:20888423
RGD:4145440 RGD:4145493
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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LOC103783265
pulmonary surfactant-associated protein A1
susceptibility
ISO
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 PMID:11504697
RGD:4143428 RGD:4143433
NCBI chr10:76,571,312...76,575,820
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MBL2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
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MEGF10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr 5:122,639,155...122,877,324
Ensembl chr 5:128,466,095...128,641,043
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MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
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NDST1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:267450
MouseDO
NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668
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NPRL2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 3:50,273,611...50,277,175
Ensembl chr 3:51,508,932...51,512,776
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NPSR1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 7:35,274,102...35,494,389
Ensembl chr 7:35,663,335...35,883,988
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SFTPB
surfactant protein B
susceptibility
ISO
DNA:polymorphism:intron (human) mRNA, protein:decreased expression:lung DNA:polymorphism: :p.T131I (human)
RGD
PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 PMID:18353230 More...
RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455
NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332
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SFTPC
surfactant protein C
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
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SFTPD
surfactant protein D
susceptibility
ISO
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:11504697 PMID:17524024
RGD:4143428 RGD:4143507
NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181
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SOD1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr21:18,029,831...18,037,526
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TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr 1:176,957,298...176,976,033
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VEGFA
vascular endothelial growth factor A
ISO
OMIM:267450
MouseDO
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35936615 More...
NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659
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ABHD4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,434,357...3,448,471
Ensembl chr14:21,535,753...21,549,856
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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CARMIL3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,830,041...4,847,897
Ensembl chr14:22,954,274...22,971,981
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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FOXG1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
RNASE6
ribonuclease A family member 6
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
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
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
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
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
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
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
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
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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
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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
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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
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SDR39U1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,216,102...5,219,234
Ensembl chr14:23,339,388...23,342,423
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SEC23A
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,802,612...19,873,076
Ensembl chr14:38,159,381...38,229,550
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SLC22A17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,165,419...4,172,002
Ensembl chr14:22,260,079...22,266,667
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SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633
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SLC39A2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,813,992...1,818,226
Ensembl chr14:19,896,112...19,898,728
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SLC7A7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057
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SLC7A8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112
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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
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SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764
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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
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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
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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
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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
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SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074
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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
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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
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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
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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
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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
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TOGARAM1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042
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TOX4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,294,892...2,316,901
Ensembl chr14:20,371,820...20,393,696
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TPPP2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,839,314...1,847,789
Ensembl chr14:19,927,478...19,928,973
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TRAPPC6B
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,917,745...19,940,589
Ensembl chr14:38,273,526...38,296,231
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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
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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
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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
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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
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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
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ERF
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808
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LOC103783265
pulmonary surfactant-associated protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr10:76,571,312...76,575,820
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SERPINE1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SFTPC
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
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COL2A1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia
OMIM ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30408610 More...
NCBI chr12:40,726,137...40,757,690
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HSPG2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:31127727 PMID:34244600 PMID:34906502 PMID:35982159 More...
NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
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LDLRAD2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
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