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: respiratory failure
Accession: DOID:11162
browse the term
Definition: A lung disease characterized by inadequate gas exchange by the respiratory system. (DO)
Synonyms: exact_synonym: Depressions, Ventilatory; Respiratory Depression; Respiratory Insufficiency; Ventilatory Depression; acute and chronic respiratory failure; acute-on-chronic respiratory failure; respiratory insufficiency/failure
narrow_synonym: PROGRESSIVE PULMONARY FAILURE; acute respiratory failure; chronic respiratory failure
primary_id: MESH:D012131
xref: EFO:0009686 ; EFO:0009842 ; ICD10CM:J96.0 ; ICD9CM:518.81 ; NCI:C27043
For additional species annotation, visit the
Alliance of Genome Resources .
G
Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency
ClinVar
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32558485
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
G
Cacna1s
calcium voltage-gated channel subunit alpha1 S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19822448
NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
G
Ecel1
endothelin converting enzyme-like 1
ISO
RGD
PMID:10400672
RGD:734911
NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
G
Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
G
Fst
follistatin
ISO
RGD
PMID:7885475
RGD:737711
NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
G
Ift80
intraflagellar transport 80
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17468754
NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
G
Igf1r
insulin-like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620343
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Il15
interleukin 15
ISO
associated with Influenza
RGD
PMID:20003352
RGD:4888530
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Il18
interleukin 18
ISO
associated with pancreatitis; protein:increased expression:plasma
RGD
PMID:19357034
RGD:4889556
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: Respiratory failure
ClinVar
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
G
Lztfl1
leucine zipper transcription factor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32558485
NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
G
Mapt
microtubule-associated protein tau
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14595660
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
G
Mbl2
mannose binding lectin 2
ISO
DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:18582923
RGD:4889496
NCBI chr 1:228,016,439...228,024,736
G
Mecp2
methyl CpG binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19559301
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
G
Mgme1
mitochondrial genome maintenance exonuclease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313956
NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
G
Musk
muscle associated receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Respiratory insufficiency
ClinVar
PMID:25537362 PMID:25741868 PMID:28492532 PMID:31974414
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
G
Nup188
nucleoporin 188
ISO
DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)
RGD
PMID:32275884
RGD:243048418
NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307
G
Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27192616
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
G
Pdyn
prodynorphin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6662192
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
G
Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25331496
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Respiratory insufficiency
ClinVar
PMID:25741868
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
G
Sftpb
surfactant protein B
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human) associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human)
RGD
PMID:1622844 PMID:12639841 PMID:12515908 PMID:8163685
RGD:4143460 , RGD:4143410 , RGD:4143414 , RGD:1624152
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Slc23a1
solute carrier family 23 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984597
NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
G
Tbcd
tubulin folding cofactor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27666374
NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: Respiratory failure
ClinVar
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
G
Tp73
tumor protein p73
ISO
ClinVar Annotator: match by term: Respiratory failure
ClinVar
PMID:25741868 PMID:34077761
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
G
Trh
thyrotropin releasing hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1305443 PMID:1833029
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
G
Wrn
WRN RecQ like helicase
ISO
ClinVar Annotator: match by term: Progressive pulmonary failure
ClinVar
PMID:11863428 PMID:36214313
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
G
Acaa2
acetyl-CoA acyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12204859 PMID:22009550 PMID:15118671
RGD:1331525
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Ace2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22009550
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
G
Aco2
aconitase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
G
Ager
advanced glycosylation end product-specific receptor
IEP
protein:increased expression:lung
RGD
PMID:16456142
RGD:1625343
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Akr1b1
aldo-keto reductase family 1 member B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
G
Alad
aminolevulinate dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
G
Alb
albumin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12394941
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Ambp
alpha-1-microglobulin/bikunin precursor
ISO
RGD
PMID:15710155
RGD:6904148
NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331
G
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
G
C3
complement C3
ISO
protein:increased activation:respiratory system fluid/secretion protein:increased expression:plasma
RGD
PMID:3826891 PMID:2784515
RGD:5130153 , RGD:5129694
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
C3ar1
complement C3a receptor 1
treatment
IMP
RGD
PMID:16782534
RGD:2303017
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
G
C5
complement C5
ISO IDA
protein:increased activation:respiratory system fluid/secretion associated with Burns (epidermis) associated with Sepsis;protein:increased activation:plasma
RGD
PMID:3826891 PMID:10486240 PMID:3264125
RGD:5130153 , RGD:1600658 , RGD:5130150
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
G
C5ar1
complement C5a receptor 1
treatment
IMP
RGD
PMID:16782534
RGD:2303017
NCBI chr 1:76,948,622...76,959,826
G
Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ces3a
carboxylesterase 3a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr19:32,992,386...33,000,562
G
Chpt1
choline phosphotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16292752
NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
G
Cxcl10
C-X-C motif chemokine ligand 10
IMP
RGD
PMID:9288136
RGD:2311389
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl6
C-X-C motif chemokine ligand 6
ISO
RGD
PMID:8810593
RGD:4143190
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Cyb5a
cytochrome b5 type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535 Ensembl chr18:78,202,342...78,258,535
G
Ebf1
EBF transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665
G
Edn1
endothelin 1
treatment
IEP ISO IDA
protein:increased secretion:plasma (rat) CTD Direct Evidence: marker/mechanism protein:increased secretion:plasma (human)
CTD RGD
PMID:16625121 PMID:1618274 PMID:16741035 PMID:8256914
RGD:4145073 , RGD:8662284 , RGD:4145079
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Egr1
early growth response 1
ISO
protein:increased expression:lung (mouse)
RGD
PMID:16713977
RGD:5131902
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
G
Eif2ak1
eukaryotic translation initiation factor 2 alpha kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
G
F3
coagulation factor III, tissue factor
ISO
protein:increased expression:plasma
RGD
PMID:10528607
RGD:11340213
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
G
Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
G
Fgfr4
fibroblast growth factor receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
G
G8
G8 gene
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
G
Gabrb1
gamma-aminobutyric acid type A receptor subunit beta1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr14:36,068,725...36,548,946
Ensembl chr14:36,080,393...36,548,948
G
Gnrh1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581 Ensembl chr15:41,972,905...41,973,581
G
Hmox1
heme oxygenase 1
susceptibility
ISO
DNA:polymorphism:promoter
RGD
PMID:19526221
RGD:4145346
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hspa4
heat shock protein family A (Hsp70) member 4
IDA
RGD
PMID:12235111
RGD:5688755
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
G
Icam1
intercellular adhesion molecule 1
severity
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19858233
RGD:4145485
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifrd1
interferon-related developmental regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 6:57,269,395...57,317,833
Ensembl chr 6:57,269,384...57,288,990
G
Igfbp6
insulin-like growth factor binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
G
Il10
interleukin 10
treatment
IEP
associated with Sepsis
RGD
PMID:22037734
RGD:11049486
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il15
interleukin 15
ISO
associated with Influenza;protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Il1b
interleukin 1 beta
disease_progression
ISO
protein:increased expression:lung protein:increased expression:bronchioalveolar lavage fluid (human)
RGD
PMID:18065658 PMID:8810593
RGD:4142869 , RGD:4143190
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
disease_progression
ISO IDA
RGD
PMID:8686976 PMID:22810359 PMID:8810593
RGD:4143191 , RGD:6909177 , RGD:4143190
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il9
interleukin 9
ISO
associated with Influenza;protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
G
Lcn2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Lct
lactase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
G
Lep
leptin
disease_progression
ISO
respiratory system fluid/secretion
RGD
PMID:21317313
RGD:5128773
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lim2
lens intrinsic membrane protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769
G
Lta
lymphotoxin alpha
ISO
DNA:polymorhpism:blood:
RGD
PMID:16135717
RGD:4143247
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:missense mutation:exon:p.G54N (human)
RGD
PMID:17133182
RGD:4889476
NCBI chr 1:228,016,439...228,024,736
G
Mdh1
malate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
G
Mfn1
mitofusin 1
treatment
IEP
RGD
PMID:27830717
RGD:12910765
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
G
Mir126a
microRNA 126a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Mir127
microRNA 127
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
G
Mir128-2
microRNA 128-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 8:112,085,467...112,085,550
Ensembl chr 8:112,085,467...112,085,550
G
Mir135b
microRNA 135b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr13:43,638,857...43,638,953
Ensembl chr13:43,638,857...43,638,953
G
Mir155
microRNA 155
ISO
associated with sepsis;miRNA:increased expression:lung
RGD
PMID:28125526
RGD:24922218
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mir18a
microRNA 18a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr15:92,180,765...92,180,860
Ensembl chr15:92,180,765...92,180,860
G
Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
G
Mir210
microRNA 210
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
G
Mir223
microRNA 223
ISO
RNA:increased expression:Bronchoalveolar lavage
RGD
PMID:28931657
RGD:21408568
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
G
Mir26a
microRNA 26a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
G
Mir30a
microRNA 30a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
G
Mir30b
microRNA 30b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675
G
Mir337
microRNA 337
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
G
Mir344-1
microRNA 344-1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 1:115,306,861...115,306,958
G
Mir346
microRNA 346
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr16:10,218,118...10,218,215
Ensembl chr16:10,218,118...10,218,215
G
Mir349
microRNA 349
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:120,243,311...120,243,407
Ensembl chr 7:120,243,311...120,243,407
G
Mir99a
microRNA 99a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
G
Mirlet7b
microRNA let-7b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:116,804,186...116,804,270
Ensembl chr 7:116,804,186...116,804,270
G
Mirlet7d
microRNA let-7d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:lung
RGD
PMID:21211006
RGD:5129208
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
G
Mt3
metallothionein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
G
Muc1
mucin 1, cell surface associated
ISO
associated with critical illness; protein:increased expression:plasma
RGD
PMID:16779848
RGD:5131171
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Mylk
myosin light chain kinase
ISO
DNA:missense mutations, silent mutation:CDS:p.H21P, p.P147S, p.T335T (human)
RGD
PMID:18828194
RGD:4891491
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
G
Nppb
natriuretic peptide B
ISO
associated with Ventilator-Induced Lung Injury;protein:increased expression:serum:
RGD
PMID:23837838
RGD:7247620
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
G
Parp1
poly (ADP-ribose) polymerase 1
ISO
RGD
PMID:19741160
RGD:5683903
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
G
Pdpn
podoplanin
IEP
RGD
PMID:11790662
RGD:2292244
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
G
Pla2g2a
phospholipase A2 group IIA
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:22173044
RGD:6482717
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
G
Pla2g4a
phospholipase A2 group 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10881173
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
G
Plau
plasminogen activator, urokinase
ISO
RGD
PMID:17994220
RGD:4892109
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Ppbp
pro-platelet basic protein
ISO
protein:increased expression:plasma, respiratory system fluid/secretion :
RGD
PMID:8498526
RGD:401794588
NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
G
Prdx6
peroxiredoxin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
G
Pros1
protein S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
G
Psma4
proteasome 20S subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890
G
Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:22363101
RGD:6483444
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
G
Ramp2
receptor activity modifying protein 2
IEP ISO
mRNA:decreased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25070658 PMID:17068622
RGD:1642683
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
associated with avian influenza;mRNA, protein:increased expression, increased phosphorylation:lung (human)
RGD
PMID:31080811
RGD:127229928
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
S100a4
S100 calcium-binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
G
S100a9
S100 calcium binding protein A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
G
Septin5
septin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
G
Serpina3n
serpin family A member 3N
IMP ISO
associated with pancreatitis protein:increased expression:serum
RGD
PMID:8574716 PMID:2432615
RGD:5147448 , RGD:5147458
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
G
Serpinc1
serpin family C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8810955
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
G
Serpine1
serpin family E member 1
ISO
protein:increased expression:plasma associated with Pneumonia, aspiration; protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:17667242 PMID:16284739
RGD:4144037 , RGD:4144039
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Serpinh1
serpin family H member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
G
Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung protein:increased expression:serum
RGD
PMID:17662121 PMID:10588595
RGD:4143379 , RGD:4143436
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpb
surfactant protein B
susceptibility
ISO
protein:increased expression:plasma protein:decreased expression:lung associated with Pneumonia;DNA:polymorphism: :1580C>T (human) associated with Lung Injury;DNA:polymorphism:intron (human)
RGD
PMID:9351625 PMID:17662121 PMID:15190959 PMID:14718442
RGD:4143447 , RGD:4143379 , RGD:4143404 , RGD:4143408
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:17662121 PMID:9720777
RGD:4143379 , RGD:4144159
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Sftpd
surfactant protein D
ISO
protein:increased expression:serum
RGD
PMID:10588595
RGD:4143436
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
G
Slc25a11
solute carrier family 25 member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410
G
Sod2
superoxide dismutase 2
IEP ISO
mRNA:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25070658 PMID:25070658
RGD:11035305
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Tbxa2r
thromboxane A2 receptor
treatment
IMP
RGD
PMID:1934328
RGD:11059533
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
G
Thbd
thrombomodulin
IEP ISO
protein:decreased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12707536 PMID:12707536
RGD:1601651
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
G
Tlr3
toll-like receptor 3
ISO
RGD
PMID:18849495
RGD:5129134
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr5
toll-like receptor 5
ISO
mRNA:decreased expression:lung (mouse)
RGD
PMID:12763043
RGD:5129557
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:17925007
RGD:5130709
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum associated lung injury; DNA:polymorphism:promoter:
RGD
PMID:21062445 PMID:16135717
RGD:5128683 , RGD:4143247
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:lung (mouse) protein:increased expression:plasma (human)
RGD
PMID:21512145 PMID:21070800 PMID:21283009
RGD:5131206 , RGD:5131145 , RGD:5131096
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Tnfrsf1b
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:lung (mouse) human protein in rat model
RGD
PMID:21512145 PMID:19916860 PMID:11159038
RGD:5131206 , RGD:5131423 , RGD:5131147
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Tspan8
tetraspanin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25070658
NCBI chr 7:51,444,946...51,479,360
Ensembl chr 7:51,445,074...51,479,356
G
Dnase1
deoxyribonuclease 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28780505
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
G
Gstp1
glutathione S-transferase pi 1
severity
ISO
associated with Bronchial Hyperreactivity;DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:10919500
RGD:4142525
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Il10
interleukin 10
susceptibility
ISO
DNA:SNPs (human)
RGD
PMID:17690329
RGD:4142510
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il9
interleukin 9
ISO
associated with Bronchitis, Chronic;mRNA:increased expression:respiratory system fluid/secretion, T cell
RGD
PMID:14605067
RGD:5128696
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
G
Mmp1
matrix metallopeptidase 1
ISO
associated with Asthma; DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:19191136
RGD:4890372
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25331496
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Ptgfr
prostaglandin F receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1219628
NCBI chr 2:240,731,185...240,766,674
Ensembl chr 2:240,733,375...240,765,650
G
Tfpi
tissue factor pathway inhibitor
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:23727623 PMID:23727623
RGD:11062088
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
G
Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:33532864 PMID:36263627 More...
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
G
Wdr19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26355662 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29121203 PMID:29801666 PMID:30266093 PMID:30586318 PMID:31054281 PMID:31216405 PMID:31725169 PMID:31837199 PMID:32037395 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:33875766 PMID:34295353 PMID:34529350 PMID:34906470 PMID:36909829 More...
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
G
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO ISS
DNA:mutations:multiple (human) 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:604320 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
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:35660062 PMID:35936615 PMID:11528396 More...
RGD:737748
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
G
Abhd4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966
G
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
G
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
G
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
G
Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
G
Ang
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,312,711...24,323,361
G
Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
G
Ap4s1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
G
Arf6
ADP-ribosylation factor 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114
G
Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
G
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
G
Baz1a
bromodomain adjacent to zinc finger domain, 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
G
Bcl2l2
Bcl2-like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
G
Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,266,673...73,300,630
Ensembl chr 6:73,266,691...73,300,631
G
C15h14orf119
similar to human chromosome 14 open reading frame 119
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
G
C15h14orf93
similar to human chromosome 14 open reading frame 93
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
G
C6h14orf28
similar to human chromosome 14 open reading frame 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
G
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
G
Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612
G
Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
G
Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
G
Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
G
Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
G
Cideb
cell death-inducing DFFA-like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
G
Clec14a
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612
G
Cma1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
G
Cmtm5
CKLF-like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
G
Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
G
Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
G
Ctsg
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
G
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,677,286...27,697,120
Ensembl chr15:27,677,268...27,697,347
G
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
G
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
G
Dhrs2
dehydrogenase/reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
G
Dhrs4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
G
Dnaaf2
dynein, axonemal, assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
G
Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
G
Eapp
E2F-associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734
G
Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025
G
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
G
Egln3
egl-9 family hypoxia-inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
G
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
G
Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669
G
Fitm1
fat storage-inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
G
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
G
Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
G
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
G
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,527,849...82,530,641
G
G2e3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924
G
Gemin2
gem (nuclear organelle) associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153
G
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
G
Gpr33-ps1
G protein-coupled receptor 33, pseudogene 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
G
Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
G
Gzmf
granzyme F
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
G
Haus4
HAUS augmin-like complex, subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
G
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
G
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,181,429...69,268,045
Ensembl chr 6:69,181,436...69,268,053
G
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
G
Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
G
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
G
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,973,861...72,976,453
G
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
G
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
G
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
G
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
G
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424
G
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187
G
Klhl28
kelch-like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
G
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
G
LOC103693823
epididymal secretory protein E3-beta-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623
G
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815
G
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
G
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
G
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,263,199...29,265,716
G
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316
G
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374
G
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126
G
Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905
G
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026
G
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
G
Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
G
Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211
G
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,755,293...75,090,403
Ensembl chr 6:74,755,395...75,086,811
G
Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,425,570...28,425,652
G
Mir208b
microRNA 208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
G
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383
G
Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
G
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
G
Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
G
Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
G
Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
G
Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
G
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841
G
Nfatc4
nuclear factor of activated T-cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
G
Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
G
Nkx2-1
NK2 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress DNA:missense mutation exon:p.L224R (c.671T>G) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
OMIM CTD ClinVar RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 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 PMID:26839702 PMID:18788921 PMID:23379327 PMID:23911641 More...
RGD:12914770 , RGD:11073166 , RGD:12914769 , RGD:12914768
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
G
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977
G
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
G
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:63,780,105...63,905,567
Ensembl chr 6:63,783,489...63,906,289
G
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884
G
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
G
Nubpl
NUBP iron-sulfur cluster assembly factor like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
G
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
G
Or10g1b
olfactory receptor family 10 subfamily G member 1B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188
G
Or10g3
olfactory receptor family 10 subfamily G member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615
G
Or4e2
olfactory receptor family 4 subfamily E member 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297
G
Or5au1
olfactory receptor family 5 subfamily AU member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632
G
Oxa1l
OXA1L, mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
G
Pabpn1
poly(A) binding protein, nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
G
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
G
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889
G
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
G
Ppp1r3e
protein phosphatase 1, regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
G
Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
G
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
G
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
G
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
G
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
G
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
G
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,084,736...28,085,655
G
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
G
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
G
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
G
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
G
Rabggta
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
G
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
G
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
G
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Rn7sl1
RNA component of signal recognition particle 7SL1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
G
Rnase1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624
G
Rnase13
ribonuclease A family member 13
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670
G
Rnase2
ribonuclease A family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479
G
Rnase3
ribonuclease A family member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
G
Rnase4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
G
Rnase6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328
G
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
G
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
G
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
G
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
G
Rpl36al1
ribosomal protein L36A like 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,654,808...87,656,202
Ensembl chr X:97,766,179...97,768,892 Ensembl chr10:97,766,179...97,768,892
G
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
G
Sall2
spalt-like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
G
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
G
Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560
G
Sec23a
Sec23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
G
Slc22a17
solute carrier family 22, member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
G
Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
G
Slc39a2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850
G
Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
G
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
G
Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911
G
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
G
Sptssa
serine palmitoyltransferase, small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
G
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
G
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802
G
Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102
G
Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024
G
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
G
Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
G
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
G
Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
G
Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349
G
Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
G
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
G
Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
G
Tppp2
tubulin polymerization-promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
G
Trappc6b
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024
G
Tssk4
testis-specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
G
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
G
Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
G
Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
G
Zfp219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
G
Clcn6
chloride voltage-gated channel 6
ISO
ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33217309 PMID:38877824 More...
NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
G
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 chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
G
Ascl1
achaete-scute family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar
PMID:14532329
NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
G
Bdnf
brain-derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar RGD
PMID:11840487 PMID:25741868 PMID:28492532 PMID:11840487
RGD:734643
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
G
Edn3
endothelin 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome
CTD ClinVar
PMID:8696331 PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
G
Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9497256
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
G
Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar
PMID:14532329
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
G
Phox2b
paired-like homeobox 2b
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation OMIM:209880 DNA:duplication: :c.691_698dup (human) DNA:repeats
CTD ClinVar MouseDO RGD
PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 PMID:15334515 PMID:15338462 PMID:15657873 PMID:16199547 PMID:16763219 PMID:16830328 PMID:16873766 PMID:16888290 PMID:17637745 PMID:17765533 PMID:17928950 PMID:18079495 PMID:19011468 PMID:19058226 PMID:20208042 PMID:20301600 PMID:20456320 PMID:24033266 PMID:25156769 PMID:25326635 PMID:25741868 PMID:26063465 PMID:27013732 PMID:27153395 PMID:28422456 PMID:28492532 PMID:28873162 PMID:29543228 PMID:29704303 PMID:30672101 PMID:32573669 PMID:34012823 PMID:34298581 PMID:36474027 PMID:39033378 PMID:24799442 PMID:19201717 More...
RGD:11058834 , RGD:12910557
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
G
Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation
CTD ClinVar
PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 PMID:8099202 PMID:8626834 PMID:8797874 PMID:8896569 PMID:9067749 PMID:9174404 PMID:9230192 PMID:9452077 PMID:9497256 PMID:9498388 PMID:9606292 PMID:9839497 PMID:9868860 PMID:9879991 PMID:10076558 PMID:10090908 PMID:10618407 PMID:10679286 PMID:10826520 PMID:10876191 PMID:11114642 PMID:11238493 PMID:11732489 PMID:11788682 PMID:12019403 PMID:12086152 PMID:12193298 PMID:12410354 PMID:14557476 PMID:14633923 PMID:15184865 PMID:15386323 PMID:15741265 PMID:15858153 PMID:16325365 PMID:16343097 PMID:16532227 PMID:16849421 PMID:16865647 PMID:16868135 PMID:17032739 PMID:17047083 PMID:17108762 PMID:17316110 PMID:17384210 PMID:17466010 PMID:17590169 PMID:17605401 PMID:17664273 PMID:17704047 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18299477 PMID:19445625 PMID:19958926 PMID:20013610 PMID:20039896 PMID:20041006 PMID:20142552 PMID:20369307 PMID:20473317 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20532249 PMID:20719260 PMID:20979234 PMID:21134561 PMID:21309721 PMID:21454698 PMID:21475823 PMID:21479187 PMID:21711375 PMID:21712996 PMID:21810974 PMID:22174939 PMID:22584709 PMID:22703879 PMID:22747440 PMID:22811860 PMID:23084198 PMID:23259706 PMID:23341727 PMID:23468374 PMID:23514012 PMID:24033266 PMID:24064755 PMID:24336963 PMID:24361808 PMID:24429398 PMID:24560924 PMID:24617864 PMID:24728327 PMID:24794695 PMID:25349307 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25624014 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25903693 PMID:26033033 PMID:26034076 PMID:26046350 PMID:26467025 PMID:26559152 PMID:26580448 PMID:26758973 PMID:26845104 PMID:27099842 PMID:27207748 PMID:28125075 PMID:28492532 PMID:28873162 PMID:28946813 PMID:29590403 PMID:29625052 PMID:29656518 PMID:29684080 PMID:31510104 PMID:32923848 PMID:33167350 PMID:33450337 PMID:33615670 PMID:33827484 PMID:34637071 PMID:35264596 PMID:36474027 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
G
Tlx3
T-cell leukemia, homeobox 3
ISS
OMIM:209880
MouseDO
NCBI chr10:17,789,706...17,792,207
Ensembl chr10:17,790,053...17,792,207
G
Ascl1
achaete-scute family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Haddad syndrome
ClinVar
PMID:14532329
NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
G
Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Haddad syndrome
ClinVar
PMID:14532329
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
G
Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome
ClinVar OMIM
PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 PMID:15024693 PMID:15121777 PMID:15334515 PMID:15338462 PMID:15657873 PMID:15888479 PMID:15949893 PMID:16199547 PMID:16249188 PMID:16763219 PMID:16830328 PMID:16873766 PMID:16888290 PMID:17576681 PMID:17637745 PMID:17765533 PMID:17928950 PMID:18079495 PMID:18292934 PMID:19011468 PMID:19058226 PMID:20208042 PMID:20301600 PMID:23754957 PMID:23873030 PMID:24033266 PMID:24728327 PMID:25156769 PMID:25741868 PMID:26063465 PMID:26375764 PMID:26580448 PMID:27013732 PMID:27153395 PMID:28371199 PMID:28422456 PMID:28433712 PMID:28492532 PMID:28873162 PMID:29098737 PMID:29543228 PMID:29641532 PMID:29696799 PMID:29704303 PMID:30092902 PMID:30672101 PMID:30850150 PMID:31444792 PMID:33958749 PMID:34012823 PMID:34298581 PMID:39033378 More...
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
G
Myo1h
myosin IH
ISO
ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
OMIM ClinVar
PMID:25741868 PMID:28779001
NCBI chr12:42,248,942...42,300,103
Ensembl chr12:42,247,138...42,323,730
G
Lbx1
ladybird homeobox 1
ISO
ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3
OMIM ClinVar
PMID:30487221
NCBI chr 1:244,083,873...244,085,690
Ensembl chr 1:244,083,873...244,085,690
G
Tnnc2
troponin C2, fast skeletal type
ISO
ClinVar Annotator: match by term: Congenital myopathy 15
OMIM ClinVar
PMID:33755597
NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029
G
Myod1
myogenic differentiation 1
ISO
ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
OMIM ClinVar
PMID:25741868 PMID:26733463 PMID:30403323 PMID:31260566
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
G
Dnajb4
DnaJ heat shock protein family (Hsp40) member B4
ISO
ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure
OMIM ClinVar
PMID:36264506 PMID:36344539
NCBI chr 2:241,129,346...241,159,272
Ensembl chr 2:241,130,340...241,159,089
G
Fxr1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30770808
NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
G
Gls
glutaminase
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71
OMIM ClinVar
PMID:25741868 PMID:30575854
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
G
Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
OMIM ClinVar
PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30523548 PMID:30690204 PMID:31608932 PMID:33126486 More...
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
G
Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Sftpa1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpc
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Ccl5
C-C motif chemokine ligand 5
ISO
associated with Obesity; protein:increased secretion:serum (human)
RGD
PMID:19701463
RGD:4892041
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Dctn1
dynactin subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19136952
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
G
Lep
leptin
ISO
Obesity Hypoventilation Syndrome
RGD
PMID:16179823
RGD:5128870
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Phox2b
paired-like homeobox 2b
ISO
RGD
PMID:14566559 PMID:12640453
RGD:1599147 , RGD:1599148
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
G
Oas1a
2'-5' oligoadenylate synthetase 1A
ISO
ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia
OMIM ClinVar
PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 PMID:34145065 More...
NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517
G
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:11297324 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 chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
G
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 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
G
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 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
G
Ttn
titin
ISO
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
OMIM ClinVar CTD
PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 PMID:11717165 PMID:11846417 PMID:12145747 PMID:12669942 PMID:15802564 PMID:16084088 PMID:17344846 PMID:17444505 PMID:17576681 PMID:18414213 PMID:18948003 PMID:19608031 PMID:19911250 PMID:20708934 PMID:20890277 PMID:21520333 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:22577215 PMID:22577218 PMID:22577220 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23446887 PMID:23478172 PMID:23486992 PMID:23514108 PMID:23518707 PMID:23606733 PMID:23620651 PMID:23675308 PMID:23757202 PMID:23852418 PMID:23861362 PMID:23975875 PMID:23995273 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24119082 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24384345 PMID:24395473 PMID:24440382 PMID:24444549 PMID:24459294 PMID:24476948 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24575448 PMID:24578547 PMID:24636144 PMID:24781210 PMID:24884718 PMID:24892279 PMID:24980681 PMID:25016126 PMID:25037085 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25253871 PMID:25326635 PMID:25332820 PMID:25363768 PMID:25447171 PMID:25448463 PMID:25498755 PMID:25500009 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25825243 PMID:25889363 PMID:25979592 PMID:25987458 PMID:26265630 PMID:26269091 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26473617 PMID:26498160 PMID:26516846 PMID:26518445 PMID:26522830 PMID:26559152 PMID:26567375 PMID:26573135 PMID:26597493 PMID:26627873 PMID:26676851 PMID:26701604 PMID:26718681 PMID:26735901 PMID:26773040 PMID:26777568 PMID:27040692 PMID:27066507 PMID:27066551 PMID:27194543 PMID:27273923 PMID:27302369 PMID:27321809 PMID:27400856 PMID:27418678 PMID:27437900 PMID:27437901 PMID:27493940 PMID:27532257 PMID:27566442 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27662471 PMID:27788187 PMID:27796757 PMID:27843123 PMID:27854218 PMID:27854229 PMID:27863505 PMID:27868399 PMID:27869827 PMID:27930701 PMID:27959697 PMID:28045975 PMID:28138913 PMID:28166282 PMID:28202948 PMID:28255936 PMID:28256728 PMID:28333919 PMID:28403181 PMID:28416588 PMID:28487569 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28606400 PMID:28611029 PMID:28716623 PMID:28750076 PMID:28767663 PMID:28771489 PMID:28798025 PMID:28822653 PMID:28831623 PMID:28857138 PMID:29099038 PMID:29109008 PMID:29179779 PMID:29221435 PMID:29263846 PMID:29361395 PMID:29382405 PMID:29386531 PMID:29420653 PMID:29435569 PMID:29447731 PMID:29511324 PMID:29540445 PMID:29590070 PMID:29691892 PMID:29761117 PMID:29892087 PMID:29956481 PMID:29961767 PMID:29970176 PMID:29988065 PMID:29997562 PMID:30021846 PMID:30086531 PMID:30109841 PMID:30238059 PMID:30365001 PMID:30371277 PMID:30415094 PMID:30453078 PMID:30531895 PMID:30535219 PMID:30536954 PMID:30564623 PMID:30571272 PMID:30609409 PMID:30609410 PMID:30615648 PMID:30656044 PMID:30662066 PMID:30666435 PMID:30724488 PMID:30770808 PMID:30847666 PMID:30924900 PMID:30959811 PMID:30985088 PMID:30993396 PMID:31028938 PMID:31112426 PMID:31127727 PMID:31215789 PMID:31251381 PMID:31395899 PMID:31407473 PMID:31481236 PMID:31489791 PMID:31514951 PMID:31539150 PMID:31561939 PMID:31589614 PMID:31660661 PMID:31737537 PMID:31795264 PMID:31847883 PMID:31879508 PMID:31931689 PMID:31980526 PMID:31983221 PMID:32039858 PMID:32160020 PMID:32235935 PMID:32246154 PMID:32277046 PMID:32403337 PMID:32528171 PMID:32746448 PMID:32778822 PMID:32880476 PMID:32901917 PMID:32934002 PMID:32964742 PMID:33106378 PMID:33179747 PMID:33226272 PMID:33297573 PMID:33373724 PMID:33432171 PMID:33449170 PMID:33500567 PMID:33552729 PMID:33692775 PMID:33874732 PMID:33906374 PMID:34036930 PMID:34135346 PMID:34137518 PMID:34315225 PMID:34495297 PMID:34540771 PMID:34731013 PMID:34756330 PMID:34935411 PMID:35081925 PMID:35177841 PMID:35207729 PMID:35628876 PMID:35629941 PMID:35741838 PMID:36005429 PMID:36166435 PMID:36264615 PMID:36693943 PMID:37091313 PMID:37291118 PMID:37549721 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Npy
neuropeptide Y
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9288221
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
G
Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
OMIM ClinVar
PMID:25741868 PMID:27640307 PMID:29053797 PMID:29053800 PMID:31727539
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
G
Med11
mediator complex subunit 11
ISO
ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
OMIM ClinVar
PMID:36001086
NCBI chr10:55,164,322...55,165,940
Ensembl chr10:55,164,326...55,166,533
G
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
OMIM ClinVar
PMID:25741868 PMID:32004447
NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
G
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 chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
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 chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
G
Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
G
Epas1
endothelial PAS domain protein 1
ISS
OMIM:267450
MouseDO
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
G
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Icam1
intercellular adhesion molecule 1
ISO IEP
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:20888423 PMID:19837405
RGD:4145440 , RGD:4145493
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Mbl2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr 1:228,016,439...228,024,736
G
Megf10
multiple EGF-like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
G
Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:267450
MouseDO
NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
G
Nprl2
NPR2-like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
G
Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
G
Sftpa1
surfactant protein A1
susceptibility
ISO IEP
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 PMID:11504697
RGD:4143433 , RGD:4143428
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpb
surfactant protein B
susceptibility
ISO IEP
DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung
RGD
PMID:12490037 PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:18353230 More...
RGD:4143416 , RGD:4143455 , RGD:4143433 , RGD:4143428 , RGD:4143418 , RGD:4143376
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpc
surfactant protein C
IEP ISO
mRNA, protein:decreased expression:lung ClinVar Annotator: match by term: Neonatal respiratory distress protein:altered processing:amniotic fluid, lung
ClinVar RGD
PMID:25741868 PMID:11504697 PMID:7537464
RGD:4143428 , RGD:4144127
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Sftpd
surfactant protein D
susceptibility
ISO IEP
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:17524024 PMID:11504697
RGD:4143507 , RGD:4143428
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
G
Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
G
Vegfa
vascular endothelial growth factor A
ISS
OMIM:267450
MouseDO
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Ccn4
cellular communication network factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35387687
NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
G
Skil
SKI-like proto-oncogene
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23590892
NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
G
Smad7
SMAD family member 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23590892
NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
G
Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:lung,serum:
RGD
PMID:24535699
RGD:11073678
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Dctn1
dynactin subunit 1
susceptibility
ISO
ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 PMID:16505168 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:18852346 PMID:19136952 PMID:19279216 PMID:19506225 PMID:20437543 PMID:20945553 PMID:22777741 PMID:23143281 PMID:23628468 PMID:23881933 PMID:24343258 PMID:24484619 PMID:24604904 PMID:24627108 PMID:24676999 PMID:25025039 PMID:25109764 PMID:25299611 PMID:25382069 PMID:25590979 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:26742954 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28518168 PMID:28625595 PMID:28717666 PMID:28792508 PMID:29525180 PMID:32028661 PMID:32402491 PMID:32461654 PMID:32717578 PMID:33369814 PMID:33408239 PMID:33973882 PMID:35047667 PMID:20702129 PMID:19136952 More...
RGD:5534575 , RGD:5535748
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
G
Ada
adenosine deaminase
IMP
associated with Acute Lung Injury
RGD
PMID:20228181
RGD:5128842
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25945502
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adora2a
adenosine A2a receptor
ISO
associated with Reperfusion Injury
RGD
PMID:19909990
RGD:4890361
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
G
Adrb2
adrenoceptor beta 2
IMP ISO
DNA:SNPs: :46A>G, 79C>G and 523C>A (human)
RGD
PMID:18987456 PMID:20546540
RGD:5129128 , RGD:4144884
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Agt
angiotensinogen
ISO
DNA:polymorphism: :p.M235T (human)
RGD
PMID:21393362
RGD:5129160
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Alox5
arachidonate 5-lipoxygenase
IMP
RGD
PMID:8111595
RGD:4890432
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
G
Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15612528
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl2
C-C motif chemokine ligand 2
IEP
associated with Shock, Septic;protein:increased expression:lung
RGD
PMID:18555988
RGD:2307014
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ghrh
growth hormone releasing hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22308467
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
G
Il13
interleukin 13
ISO
aosciated with Enterovirus Infections
RGD
PMID:15635619
RGD:4145737
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28600744
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
ISO
RGD
PMID:19394645
RGD:4889555
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1b
interleukin 1 beta
ISO
associated with Subarachnoid Hemorrhage;protein:increased expression:lung
RGD
PMID:19875734
RGD:4142817
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il33
interleukin 33
ISO
associated with Plasmodium falciparum malaria;protein:increased expression:lung
RGD
PMID:26437894
RGD:11342349
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Mif
macrophage migration inhibitory factor
ISO
associated with hemorrhage
RGD
PMID:17277045
RGD:4891015
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33012731
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
G
Nos2
nitric oxide synthase 2
IEP
protein:increased expression:alveolus protein:increased expression:lung
RGD
PMID:16256382 PMID:14767587
RGD:4891463 , RGD:5132626
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
IEP ISO
protein:increased expression:lung CTD Direct Evidence: therapeutic
CTD RGD
PMID:16844920 PMID:14767587
RGD:5132626
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11818323
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
G
Sftpa1
surfactant protein A1
susceptibility
ISO
DNA:SNPs:cds:1101C>T, 3192T>C, 3234T>C (human)
RGD
PMID:16162765
RGD:4144872
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sgms1
sphingomyelin synthase 1
IDA IEP IMP
mRNA:increased expression:lung (rat)
RGD
PMID:12353928 PMID:12353928 PMID:12353928
RGD:1302423 , RGD:1302423 , RGD:1302423
NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603
G
Tacr1
tachykinin receptor 1
ISO
RGD
PMID:19633070
RGD:5147816
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
G
Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11919079
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
G
Tlr4
toll-like receptor 4
ISO
associated with reperfusion injury
RGD
PMID:19376887
RGD:4144136
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:21188088 PMID:34390737 PMID:9628235
RGD:4142833
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Vegfa
vascular endothelial growth factor A
IDA
RGD
PMID:16793871
RGD:1580547
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Dnm1l
dynamin 1-like
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
G
Fis1
fission, mitochondrial 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
G
Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25373139
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
G
Hmox1
heme oxygenase 1
IEP
protein:increased expression:lung
RGD
PMID:21296072
RGD:10755745
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Mfn2
mitofusin 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
G
Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
IMP
compared to SS/JrHsdMcwi
RGD
PMID:30605394
RGD:38500203
NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
G
Kcnj16em1Mcwi
potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
compared to SS/JrHsdMcwi
RGD
PMID:30605394
RGD:38500203
G
Ghrh
growth hormone releasing hormone
IEP
mRNA, protein:decreased expression:hypothalamus (rat)
RGD
PMID:21406516
RGD:5687169
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
G
Ghrhr
growth hormone releasing hormone receptor
IEP
mRNA, protein:decreased expression:hypothalamus
RGD
PMID:21406516
RGD:5687169
NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19055
disease of anatomical entity
18391
respiratory system disease
5220
Respiration Disorders
483
respiratory failure
389
Airway Obstruction +
11
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
1
Circumvallate Placenta Syndrome
0
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
1
Hypoventilation +
13
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA
1
Infantile Apparent Life-Threatening Event
0
Laryngeal Granuloma
0
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
1
Positive-Pressure Respiration, Intrinsic
0
Respiratory Acidosis
0
Respiratory Paralysis
0
Respiratory Underresponsiveness to Hypoxia and Hypercapnia
3
Tauopathy and Respiratory Failure
0
Thompson Baraitser Syndrome
0
adult respiratory distress syndrome
108
asphyxiating thoracic dystrophy 4
1
asphyxiating thoracic dystrophy 5
1
congenital myopathy 17
1
congenital myopathy 21
1
congenital myopathy 9A
1
hantavirus pulmonary syndrome
0
myofibrillar myopathy 9
1
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
1
neonatal respiratory failure +
3
newborn respiratory distress syndrome +
205
pulmonary edema +
35
Path 2
disease
19055
disease of anatomical entity
18391
respiratory system disease
5220
lower respiratory tract disease
2353
lung disease
2314
respiratory failure
389
Airway Obstruction +
11
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
1
Circumvallate Placenta Syndrome
0
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
1
Hypoventilation +
13
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA
1
Infantile Apparent Life-Threatening Event
0
Laryngeal Granuloma
0
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
1
Positive-Pressure Respiration, Intrinsic
0
Respiratory Acidosis
0
Respiratory Paralysis
0
Respiratory Underresponsiveness to Hypoxia and Hypercapnia
3
Tauopathy and Respiratory Failure
0
Thompson Baraitser Syndrome
0
adult respiratory distress syndrome
108
asphyxiating thoracic dystrophy 4
1
asphyxiating thoracic dystrophy 5
1
congenital myopathy 17
1
congenital myopathy 21
1
congenital myopathy 9A
1
hantavirus pulmonary syndrome
0
myofibrillar myopathy 9
1
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
1
neonatal respiratory failure +
3
newborn respiratory distress syndrome +
205
pulmonary edema +
35