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: Death
Accession: DOID:9000543
browse the term
Definition: Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions.
Synonyms: narrow_synonym: Cardiac Death; DEATH IN EARLY ADULTHOOD; death by undetermined cause; death from disease
related_synonym: Determination of Death; Near-Death Experience
primary_id: MESH:D003643 ; RDO:0004928
xref: EFO:0009434 ; EFO:0030050 ; EFO:0030051
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20972769
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:19412820
RGD:2313977
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18597747
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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F12
coagulation factor XII
ISO
RGD
PMID:17388965
RGD:11041782
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Gria2
glutamate ionotropic receptor AMPA type subunit 2
ISO
RGD
PMID:7502080
RGD:737715
NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510
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Myl2
myosin light chain 2
ISO
ClinVar Annotator: match by term: Death in early adulthood
ClinVar
PMID:203862 PMID:08673105 PMID:9724616 PMID:10948063 PMID:11102452 PMID:12404107 PMID:12668451 PMID:14594949 PMID:16076902 PMID:16751284 PMID:17606808 PMID:21310275 PMID:21896538 PMID:24033266 PMID:25324513 PMID:25351510 PMID:25741868 PMID:26497160 PMID:27435932 PMID:27532257 PMID:28138913 PMID:28166811 PMID:28492532 PMID:28771489 PMID:30706179 PMID:30847666 PMID:31513939 PMID:32665702 PMID:32880476 PMID:33087929 PMID:33548158 PMID:33662488 PMID:33673806 PMID:35050212 PMID:35653365 More...
NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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Nppb
natriuretic peptide B
ISO
associated with Hypertension, Pulmonary
RGD
PMID:17296640
RGD:1642194
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Pde9a
phosphodiesterase 9A
sexual_dimorphism
ISO
associated with coronary artery disease;DNA:SNP: :rs8133010 (human)
RGD
PMID:35959094
RGD:242905186
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
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Scn1b
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Death in early adulthood
ClinVar
PMID:19808477 PMID:24033266 PMID:24055113 PMID:25741868 PMID:27435932 PMID:28492532 More...
NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Death in early adulthood
ClinVar
PMID:11997281 PMID:14760488 PMID:15840476 PMID:18071069 PMID:19716085 PMID:19841300 PMID:20129283 PMID:20486126 PMID:22378279 PMID:22581653 PMID:23414114 PMID:23631430 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24613995 PMID:24713084 PMID:25637381 PMID:25650408 PMID:25741868 PMID:26669661 PMID:27153395 PMID:27435932 PMID:27930701 PMID:28412158 PMID:28492532 PMID:28798025 PMID:29728395 PMID:29874177 PMID:30079003 PMID:30193851 PMID:31262209 PMID:31737537 PMID:32516855 PMID:32553227 PMID:34461752 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Ppa2
inorganic pyrophosphatase 2
ISO
ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:34400813 More...
NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
mRNA, protein:increased expression:myocardium, lung (rat)
RGD
PMID:17285858
RGD:9068458
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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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
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:18620825
RGD:4890002
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Sox4
SRY-box transcription factor 4
IDA
RGD
PMID:12011571
RGD:1581119
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Asphyxia neonatorum
ClinVar
PMID:8364588 PMID:25741868
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
IEP
mRNA:increased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
IEP
mRNA:decreased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:21058530
RGD:12792218
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Htra2
HtrA serine peptidase 2
treatment
IEP
protein:increased expression:kidney:
RGD
PMID:20704803
RGD:10402931
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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Map2
microtubule-associated protein 2
IEP
RGD
PMID:21858873
RGD:6483085
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Pdia3
protein disulfide isomerase family A, member 3
IEP
protein:increased expression:hippocampus:
RGD
PMID:15453273
RGD:9999183
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Psen2
presenilin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:urine
RGD
PMID:14707571
RGD:5508819
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Xrcc1
X-ray repair cross complementing 1
IEP
mRNA:increased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Hmox1
heme oxygenase 1
treatment
IEP IMP
mRNA, protein:increased expression:kidney
RGD
PMID:23356498 PMID:20819234
RGD:10755728 , RGD:10766439
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Icam1
intercellular adhesion molecule 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:20810760
RGD:4145365
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Inhbb
inhibin subunit beta B
IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:15808645
RGD:9743920
NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
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Itgam
integrin subunit alpha M
IEP
protein:increased expression:neutrophil (rat)
RGD
PMID:18347540
RGD:329901924
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Map2k4
mitogen activated protein kinase kinase 4
IDA
RGD
PMID:23157661
RGD:7495829
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Map2k6
mitogen-activated protein kinase kinase 6
IDA
RGD
PMID:23157661
RGD:7495829
NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
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Clcf1
cardiotrophin-like cytokine factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Crlf1
cytokine receptor-like factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cold-induced sweating syndrome
CTD ClinVar
PMID:20186812 PMID:25741868
NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7
kelch-like family member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Crlf1
cytokine receptor-like factor 1
ISO
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
OMIM ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:27976805 PMID:28492532 PMID:31497877 PMID:35699517 More...
NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7
kelch-like family member 7
ISO
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1
ClinVar
PMID:25741868 PMID:27392078
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Clcf1
cardiotrophin-like cytokine factor 1
ISO
ClinVar Annotator: match by term: Cold-induced sweating syndrome 2
OMIM ClinVar
PMID:16782820 PMID:20400119 PMID:25741868
NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Klhl7
kelch-like family member 7
ISO
ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31953236 PMID:35670385 PMID:35699517 More...
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Cdk2
cyclin dependent kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:18384776
RGD:2306554
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12566075
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Grk2
G protein-coupled receptor kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17008600
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Igf2
insulin-like growth factor 2
IDA
DNA:methylation: :
RGD
PMID:18778817
RGD:5509951
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il18
interleukin 18
IEP
RGD
PMID:21920610
RGD:8655947
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Lcmt1
leucine carboxyl methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17724024
NCBI chr 1:177,904,119...177,960,111
Ensembl chr 1:177,904,139...177,960,112
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Lif
LIF, interleukin 6 family cytokine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23409146
NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
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Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mir105
microRNA 105
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038060
NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601
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Nlrp5
NLR family, pyrin domain containing 5
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality
ClinVar
NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:67,777,948...68,023,736
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Parg
poly (ADP-ribose) glycohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15591342
NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273
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Sall1
spalt-like transcription factor 1
ISO
RGD
PMID:11688560
RGD:155641230
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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Sall4
spalt-like transcription factor 4
ISO
RGD
PMID:16790473
RGD:155631313
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Slc31a1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11391004
NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:22972987
RGD:155663421
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Ube2n
ubiquitin-conjugating enzyme E2N
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16738225
NCBI chr 7:30,154,330...30,184,373
Ensembl chr 7:30,154,616...30,184,355
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Ankrd11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Sudden unexplained death in childhood
ClinVar
PMID:25413698 PMID:25741868 PMID:31191201
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Brpf1
bromodomain and PHD finger containing, 1
ISO
ClinVar Annotator: match by term: Sudden unexplained death in childhood
ClinVar
PMID:25741868 PMID:32652122
NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Sudden unexplained death in childhood
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
ClinVar Annotator: match by term: Sudden unexplained death in childhood
ClinVar
PMID:25741868
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Ryr2
ryanodine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31913406
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Sudden unexplained death in childhood
ClinVar
PMID:25741868
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Ace
angiotensin I converting enzyme
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:11085286
RGD:11038921
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ahsp
alpha hemoglobin stabilizing protein
ISO
mRNA, protein:decreased expression:placenta (human)
RGD
PMID:18347943
RGD:329956422
NCBI chr 1:182,879,901...182,885,508
Ensembl chr 1:182,880,076...182,885,506
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Atr
ATR serine/threonine kinase
ISO
RGD
PMID:15282542
RGD:150340675
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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F5
coagulation factor V
no_association
ISO
RGD
PMID:14706682
RGD:1580130
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Grhl3
grainyhead-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6635991
NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:20393889
RGD:12910472
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Lpar1
lysophosphatidic acid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11087877
NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29255069
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:5067144
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11023856
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Rdh10
retinol dehydrogenase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27793605
NCBI chr 5:3,186,671...3,215,572
Ensembl chr 5:3,188,445...3,215,572
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Tfpi
tissue factor pathway inhibitor
ISO
associated with Hemorrhage;
RGD
PMID:9242522
RGD:11060259
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
associated with Endotoxemia; human protein in rat model
RGD
PMID:21187445
RGD:5131261
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Apoh
apolipoprotein H
ISO
RGD
PMID:24642748
RGD:10054118
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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Prl
prolactin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3816235
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Death in infancy
ClinVar
PMID:15075330 PMID:15178757 PMID:16253912 PMID:18782775 PMID:22581653 PMID:23631430 PMID:23861362 PMID:25351510 PMID:25741868 PMID:27435932 PMID:28492532 PMID:30615648 More...
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Gpd1l
glycerol-3-phosphate dehydrogenase 1 like
ISO
ClinVar Annotator: match by term: Death in infancy
ClinVar
PMID:11839626 PMID:17967977 PMID:19666841 PMID:19745168 PMID:20724705 PMID:22995991 PMID:23414114 PMID:24033266 PMID:25741868 PMID:26743238 PMID:27435932 PMID:28008009 PMID:28492532 PMID:28798025 PMID:31618753 PMID:32695137 More...
NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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Myl2
myosin light chain 2
ISO
ClinVar Annotator: match by term: Death in infancy
ClinVar
PMID:8673105 PMID:11102452 PMID:11748309 PMID:12668451 PMID:14594949 PMID:15483641 PMID:16837010 PMID:18929571 PMID:19150977 PMID:20855589 PMID:21415409 PMID:22958901 PMID:23299917 PMID:23343568 PMID:24111713 PMID:24842367 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26116789 PMID:26284228 PMID:27435932 PMID:28467684 PMID:28492532 PMID:28518168 PMID:31315475 PMID:33337957 PMID:33558530 PMID:34935411 PMID:35653365 More...
NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Death in infancy
ClinVar
PMID:19926015 PMID:20157052 PMID:22374134 PMID:22515980 PMID:22677073 PMID:23861362 PMID:24025405 PMID:24033266 PMID:25370123 PMID:25741868 PMID:27435932 PMID:27538377 PMID:28125075 PMID:28404607 PMID:28492532 PMID:28567303 PMID:29396286 PMID:30403697 PMID:30835254 PMID:32152366 More...
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Scn3b
sodium voltage-gated channel beta subunit 3
ISO
ClinVar Annotator: match by term: Death in infancy
ClinVar
PMID:23257389 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27435932 PMID:27711072 PMID:28492532 PMID:30662450 More...
NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Death in infancy
ClinVar
PMID:11901046 PMID:11997281 PMID:14753626 PMID:14760488 PMID:15840476 PMID:18071069 PMID:18708744 PMID:19716085 PMID:19841300 PMID:20129283 PMID:20486126 PMID:21167176 PMID:22378279 PMID:22426227 PMID:22581653 PMID:22840528 PMID:22984773 PMID:23414114 PMID:23631430 PMID:23805106 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24613995 PMID:24631775 PMID:24713084 PMID:24721456 PMID:24892747 PMID:25637381 PMID:25650408 PMID:25741868 PMID:25904541 PMID:26159999 PMID:26332594 PMID:26467025 PMID:26538325 PMID:26669661 PMID:26746457 PMID:27153395 PMID:27435932 PMID:27930701 PMID:28412158 PMID:28492532 PMID:28794082 PMID:28798025 PMID:28988457 PMID:29728395 PMID:29874177 PMID:30079003 PMID:30153324 PMID:30193851 PMID:30847666 PMID:31262209 PMID:31737537 PMID:32516855 PMID:32553227 PMID:34021086 PMID:34461752 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Smn1
survival of motor neuron 1, telomeric
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27111068
NCBI chr 2:31,490,018...31,501,065
Ensembl chr 2:31,490,015...31,501,060
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Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30770447
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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Zmiz2
zinc finger, MIZ-type containing 2
ISO
ClinVar Annotator: match by term: Death in infancy
ClinVar
NCBI chr14:81,251,391...81,267,936
Ensembl chr14:81,251,417...81,267,936
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Tle6
TLE family member 6, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality 1
OMIM ClinVar
PMID:25741868 PMID:26537248 PMID:36271123
NCBI chr 7:8,107,050...8,118,639
Ensembl chr 7:8,107,207...8,118,639
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Padi6
peptidyl arginine deiminase 6
ISO
ClinVar Annotator: match by term: Preimplantation embryonic lethality 2
OMIM ClinVar
PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 PMID:37778376 More...
NCBI chr 5:153,021,855...153,037,443
Ensembl chr 5:153,021,965...153,037,414
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Cers1
ceramide synthase 1
IEP
RGD
PMID:23625371
RGD:156431056
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Cert1
ceramide transporter 1
IEP
RGD
PMID:23625371
RGD:156431056
NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074
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Gpx3
glutathione peroxidase 3
severity
ISO
protein:increased expression:plasma
RGD
PMID:18279752
RGD:401827841
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gstt1
glutathione S-transferase theta 1
severity
ISO
DNA:deletion:: (human)
RGD
PMID:21058530
RGD:12792218
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hnrnpk
heterogeneous nuclear ribonucleoprotein K
treatment
IEP
RGD
PMID:33951501
RGD:155269042
NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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Osbp
oxysterol binding protein
IEP
RGD
PMID:23625371
RGD:156431056
NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506
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Ednrb
endothelin receptor type B
IAGP
RGD
PMID:8570650
RGD:628515
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Fancd2
FA complementation group D2
ISO
RGD
PMID:12893777
RGD:11344906
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28242822
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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Lamc3
laminin subunit gamma 3
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25741868 PMID:28492532 PMID:33639934
NCBI chr 3:15,165,220...15,226,697
Ensembl chr 3:15,165,220...15,226,697
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Pomgnt2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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Spdl1
spindle apparatus coiled-coil protein 1
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065
NCBI chr10:19,269,125...19,294,213
Ensembl chr10:19,269,127...19,294,127
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Wdr81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: Neonatal death
ClinVar
PMID:25558065 PMID:25741868 PMID:28556411
NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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Zfpm2
zinc finger protein, multitype 2
ISO
RGD
PMID:25196150
RGD:155882481
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Acsl3
acyl-CoA synthetase long-chain family member 3
disease_progression
ISO
RGD
PMID:22661490
RGD:13831296
NCBI chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627
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Adra2b
adrenoceptor alpha 2B
ISO
RGD
PMID:12535806
RGD:1559314
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
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Akap9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:12571597
RGD:734572
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Apob
apolipoprotein B
ISO
RGD
PMID:17045270
RGD:1601197
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Cep85l
centrosomal protein 85-like
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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Dpp6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
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Dsg2
desmoglein 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dsp
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Gja1
gap junction protein, alpha 1
treatment
ISO
RGD
PMID:22093512
RGD:12910124
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gpd1l
glycerol-3-phosphate dehydrogenase 1 like
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:27930701 PMID:28492532
NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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Hcn4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:25145517 PMID:25467552 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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Il6
interleukin 6
susceptibility
ISO
RGD
PMID:23906927
RGD:12792237
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Itgb3
integrin subunit beta 3
ISO
associated with arteriosclerosis; DNA:polymorphism:exon
RGD
PMID:20846430
RGD:5128476
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Kcnh2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:18508782 PMID:19716085 PMID:22581653 PMID:25417810 PMID:25741868 PMID:26704558 PMID:28492532 PMID:29725305 PMID:32475984 More...
NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kng1
kininogen 1
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Kng2
kininogen 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Family history of sudden cardiac death
CTD ClinVar
PMID:15996213 PMID:17711925 PMID:24623722 PMID:25741868 PMID:28492532
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Mybpc3
myosin binding protein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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Nebl
nebulette
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
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Pkp2
plakophilin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:27532257 PMID:28492532 PMID:29802319 PMID:31402444
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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Pln
phospholamban
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr20:32,629,537...32,639,559
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Ryr2
ryanodine receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
CTD ClinVar
PMID:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25741868 PMID:26656175 PMID:27054166 PMID:27646203 PMID:27930701 PMID:28404607 PMID:28492532 PMID:29350269 PMID:29477366 PMID:30615648 PMID:31913406 More...
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Scn3b
sodium voltage-gated channel beta subunit 3
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:14985827 PMID:15851227 PMID:16712702 PMID:18378609 PMID:18508782 PMID:19564561 PMID:19841300 PMID:19862833 PMID:20102864 PMID:20129283 PMID:22090166 PMID:22370247 PMID:22581653 PMID:22789973 PMID:22984773 PMID:23631430 PMID:23671135 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:25904541 PMID:26746457 PMID:27000522 PMID:28492532 PMID:30254039 PMID:30662450 PMID:31696929 PMID:32268277 PMID:32533187 PMID:32533946 PMID:32880476 PMID:33164571 PMID:33221895 PMID:33906374 PMID:34135346 PMID:34620408 PMID:34649698 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Sp4
Sp4 transcription factor
ISO
RGD
PMID:11007485
RGD:1580019
NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
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Tmem43
transmembrane protein 43
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac arrest
CTD ClinVar
PMID:20435227 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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Tnni3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:21839045 PMID:25741868
NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac death
CTD ClinVar
PMID:17556660 PMID:23233322 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More...
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:20562447 PMID:21887725 PMID:23382873 PMID:24019741 PMID:25416190 PMID:25741868 PMID:26350513 PMID:28074886 PMID:28315637 PMID:28492532 PMID:29568272 PMID:30142439 PMID:31847883 PMID:35089333 More...
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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Ttn
titin
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:19608031 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Ppa2
inorganic pyrophosphatase 2
ISO
ClinVar Annotator: match by term: PPA2-Related Disorders | ClinVar Annotator: match by term: Sudden cardiac failure, infantile
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:33826954 PMID:34400813 More...
NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15331425
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17502491
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Anxa5
annexin A5
no_association
ISO
DNA:polymorphism: :-1C>T (human)
RGD
PMID:16025836
RGD:1578384
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Cacnb2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:20817017 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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Casq2
calsequestrin 2
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:12034872 PMID:18543230 PMID:21063088 PMID:21454795 PMID:22421959 PMID:24025405 PMID:24033266 PMID:25651173 PMID:25741868 PMID:26671417 PMID:28492532 More...
NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
G
Csrp3
cysteine and glycine rich protein 3
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:9039266 PMID:12507422 PMID:14567970 PMID:15781201 PMID:16352453 PMID:17084280 PMID:18505755 PMID:20044516 PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26656175 PMID:28492532 More...
NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27332903 PMID:28492532 PMID:28611029 PMID:29802319 PMID:30847666 More...
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
G
Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:7504405 PMID:9452111 PMID:11668641 PMID:11914245 PMID:14635108 PMID:14680977 PMID:15806320 PMID:16232095 PMID:16754800 PMID:18057066 PMID:18154965 PMID:18297328 PMID:19373884 PMID:20110537 PMID:20122163 PMID:20360539 PMID:20464614 PMID:21229318 PMID:21517827 PMID:22226368 PMID:23219219 PMID:23393592 PMID:23430502 PMID:24033266 PMID:24829596 PMID:25078086 PMID:25637381 PMID:25741868 PMID:26415523 PMID:27832731 PMID:28276057 PMID:28492532 PMID:28988177 PMID:29037082 PMID:29044343 PMID:29530533 PMID:29631605 PMID:32109691 PMID:32246457 PMID:33543778 PMID:35971858 More...
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 PMID:10428953 PMID:10973849 PMID:11320260 PMID:11874988 PMID:12566567 PMID:15840476 PMID:16818210 PMID:19008479 PMID:19340287 PMID:19521339 PMID:19716085 PMID:22166941 PMID:22581653 PMID:23124029 PMID:23510998 PMID:23631430 PMID:24033266 PMID:24400172 PMID:24561134 PMID:24606995 PMID:25637381 PMID:25741868 PMID:26187847 PMID:28176637 PMID:28492532 PMID:30847666 PMID:31447099 PMID:31737537 PMID:31835641 PMID:31941373 PMID:32058015 PMID:32344329 More...
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
G
Kcnh2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:11468227 PMID:12775564 PMID:14661677 PMID:14975928 PMID:15522280 PMID:15840476 PMID:16487223 PMID:17161064 PMID:17210839 PMID:17275752 PMID:19019189 PMID:19673885 PMID:19841300 PMID:20167303 PMID:22581653 PMID:23303164 PMID:23861362 PMID:24596401 PMID:25741868 PMID:26467025 PMID:26746457 PMID:27153395 PMID:28472724 PMID:28492532 PMID:29752375 PMID:29759541 PMID:32893267 More...
NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
G
Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:8619549 PMID:9106535 PMID:10814726 PMID:12628721 PMID:12673789 PMID:12920062 PMID:15053843 PMID:16386954 PMID:17136397 PMID:17377071 PMID:18035086 PMID:18414213 PMID:18564364 PMID:18646565 PMID:19524666 PMID:21632249 PMID:21840938 PMID:23142632 PMID:23183350 PMID:24503780 PMID:24990833 PMID:25741868 PMID:26443318 PMID:27220833 PMID:28492532 PMID:29693488 PMID:29895224 PMID:30055862 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Map2k5
mitogen activated protein kinase kinase 5
ISO
RGD
PMID:11387209
RGD:1580866
NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
G
Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
G
Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:15358028 PMID:15856146 PMID:16335287 PMID:19808356 PMID:19913502 PMID:20800588 PMID:22857948 PMID:23074333 PMID:23283745 PMID:23396983 PMID:23782526 PMID:23861362 PMID:24047955 PMID:25351510 PMID:25741868 PMID:26688388 PMID:27247418 PMID:27532257 PMID:28408708 PMID:28492532 PMID:28615295 PMID:28687478 PMID:29300372 PMID:30165862 PMID:31199839 PMID:32344918 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
G
Mylk2
myosin light chain kinase 2
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728
G
Mypn
myopalladin
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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Nebl
nebulette
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 PMID:28492532 PMID:28750076 PMID:33762593 More...
NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
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Npr1
natriuretic peptide receptor 1
ISO
associated with Hypertension
RGD
PMID:9405681
RGD:737701
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
G
Nrap
nebulin-related anchoring protein
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
NCBI chr 1:255,350,113...255,427,704
Ensembl chr 1:255,350,113...255,427,693
G
Otc
ornithine transcarbamylase
ISO
RGD
PMID:17262046
RGD:1601074
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
G
Pkp2
plakophilin 2
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:15489853 PMID:17010805 PMID:20400443 PMID:23183494 PMID:23911551 PMID:25741868 PMID:27532257 PMID:28492532 PMID:30571190 PMID:30677492 PMID:30678776 PMID:30700137 PMID:30790397 PMID:34135346 More...
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
G
Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25741868 PMID:26656175 PMID:27054166 PMID:27646203 PMID:27930701 PMID:28404607 PMID:28492532 PMID:29350269 PMID:29477366 PMID:31513939 PMID:35526016 PMID:36293497 More...
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Sudden unexplained death
ClinVar
PMID:17210839 PMID:17210841 PMID:19716085 PMID:20129283 PMID:22581653 PMID:25741868 PMID:27332903 PMID:28492532 PMID:32533946 PMID:36578016 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
G
Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Sudden unexplained death CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:25741868 PMID:30391667
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
G
Akap10
A-kinase anchoring protein 10
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868
NCBI chr10:46,545,371...46,608,730
Ensembl chr10:46,551,532...46,608,769
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Alg13
ALG13, UDP-N-acetylglucosaminyltransferase subunit
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868
NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Calm2
calmodulin 2
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287 Ensembl chr15:7,091,567...7,104,287
G
Cav3
caveolin 3
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:12666119 PMID:15580566 PMID:25741868 PMID:28492532 PMID:35027292
NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
G
Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22000980
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
G
Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22000980
NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
G
Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
G
Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
G
Flnc
filamin C
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
G
Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532
NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
G
Gpd1l
glycerol-3-phosphate dehydrogenase 1 like
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:28492532 PMID:28837624 More...
NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
G
Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
G
Kcnh2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:15913580 PMID:17210839 PMID:18222468 PMID:18596570 PMID:18675227 PMID:20674198 PMID:21215473 PMID:22581653 PMID:22995991 PMID:23304551 PMID:24223155 PMID:25417810 PMID:25741868 PMID:26129877 PMID:26332594 PMID:27026747 PMID:27930701 PMID:28492532 PMID:29752375 PMID:30369311 PMID:31696929 More...
NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
G
Kcnj2
potassium inwardly-rectifying channel, subfamily J, member 2
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868 PMID:28341588 PMID:28492532 PMID:29874177
NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445
G
Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
G
Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death
ClinVar
PMID:15913580 PMID:16534005 PMID:17210839 PMID:17222736 PMID:17470695 PMID:17999538 PMID:18222468 PMID:18596570 PMID:18611041 PMID:19490272 PMID:19716085 PMID:19815527 PMID:21185501 PMID:21215473 PMID:21778721 PMID:22581653 PMID:22677073 PMID:23304551 PMID:23465283 PMID:24033266 PMID:24920132 PMID:25637381 PMID:25741868 PMID:26066609 PMID:26332594 PMID:27884173 PMID:28492532 PMID:29197658 PMID:30302399 PMID:30615648 PMID:31043699 PMID:31337358 PMID:31737537 More...
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
G
Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:9299504 PMID:9806551 PMID:10519336 PMID:10521313 PMID:12160969 PMID:13298683 PMID:15972314 PMID:24146900 PMID:26467025 More...
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
G
Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:9048664 PMID:9562578 PMID:11499718 PMID:11499719 PMID:12707239 PMID:15519027 PMID:21959974 PMID:24033266 PMID:24510615 PMID:24793961 PMID:25741868 PMID:26914223 PMID:27532257 PMID:28492532 PMID:29121657 PMID:29758562 PMID:30165862 PMID:31028938 PMID:35027292 PMID:35581137 More...
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
G
Oxtr
oxytocin receptor
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:12666119 PMID:15580566 PMID:25741868 PMID:28492532 PMID:35027292
NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
G
Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:8962591 PMID:20002125 PMID:20002461 PMID:24718837 PMID:25741868 PMID:28492532 PMID:28639102 More...
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
G
Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868 PMID:28492532 PMID:29601086
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
G
Scn1b
sodium voltage-gated channel beta subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155597
NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
G
Scn4a
sodium voltage-gated channel alpha subunit 4
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868
NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
G
Scn4b
sodium voltage-gated channel beta subunit 4
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:20226894 PMID:23465283 PMID:23861362 PMID:25741868 PMID:28492532 PMID:30821358 PMID:31043699 More...
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death
CTD OMIM ClinVar
PMID:291807 PMID:461398 PMID:1309946 PMID:2030070 PMID:8661019 PMID:9716085 PMID:10807545 PMID:10807547 PMID:10940383 PMID:10966831 PMID:11076825 PMID:11463728 PMID:11562792 PMID:11710892 PMID:11748104 PMID:11804990 PMID:11823453 PMID:11827685 PMID:11901046 PMID:11960580 PMID:11997281 PMID:12106943 PMID:12193783 PMID:12354768 PMID:12471205 PMID:12569159 PMID:12574143 PMID:12639704 PMID:12673799 PMID:12820704 PMID:14500339 PMID:14523039 PMID:14687250 PMID:14760488 PMID:14961552 PMID:14985827 PMID:14998624 PMID:15023552 PMID:15028074 PMID:15121794 PMID:15161528 PMID:15176425 PMID:15266024 PMID:15277732 PMID:15466642 PMID:15485686 PMID:15599693 PMID:15689442 PMID:15840476 PMID:15840483 PMID:15851227 PMID:15851228 PMID:15851440 PMID:15992732 PMID:15996170 PMID:16061744 PMID:16132053 PMID:16155735 PMID:16239976 PMID:16267250 PMID:16267253 PMID:16325048 PMID:16344400 PMID:16379539 PMID:16414944 PMID:16453014 PMID:16453024 PMID:16540748 PMID:16568155 PMID:16611632 PMID:16707561 PMID:16712702 PMID:16731473 PMID:16922724 PMID:17141278 PMID:17161064 PMID:17185997 PMID:17210839 PMID:17210841 PMID:17227473 PMID:17275750 PMID:17331104 PMID:17438607 PMID:17438610 PMID:17605181 PMID:17675083 PMID:17854786 PMID:17892895 PMID:17897635 PMID:17905336 PMID:17967976 PMID:17993325 PMID:18071069 PMID:18093912 PMID:18156160 PMID:18245395 PMID:18304999 PMID:18361072 PMID:18362431 PMID:18378609 PMID:18426444 PMID:18452873 PMID:18452875 PMID:18508782 PMID:18596570 PMID:18809926 PMID:18976777 PMID:19026623 PMID:19027780 PMID:19056759 PMID:19083750 PMID:19251209 PMID:19302788 PMID:19305408 PMID:19305409 PMID:19322600 PMID:19406494 PMID:19412328 PMID:19561025 PMID:19597050 PMID:19606473 PMID:19706159 PMID:19716085 PMID:19799913 PMID:19808477 PMID:19841300 PMID:19843921 PMID:19862833 PMID:19996378 PMID:20031634 PMID:20038812 PMID:20129283 PMID:20137763 PMID:20384651 PMID:20403459 PMID:20470418 PMID:20486126 PMID:20539757 PMID:20566482 PMID:20609320 PMID:20646679 PMID:20875080 PMID:20981092 PMID:21051419 PMID:21109022 PMID:21126620 PMID:21143119 PMID:21185501 PMID:21273195 PMID:21306642 PMID:21321465 PMID:21325150 PMID:21385947 PMID:21498565 PMID:21596231 PMID:21621375 PMID:21622575 PMID:21705349 PMID:21726068 PMID:21840964 PMID:21908450 PMID:22247482 PMID:22277643 PMID:22337857 PMID:22360817 PMID:22373669 PMID:22378279 PMID:22490985 PMID:22519808 PMID:22581653 PMID:22677073 PMID:22682427 PMID:22685113 PMID:22739120 PMID:22789973 PMID:22840528 PMID:22885917 PMID:22899775 PMID:22956155 PMID:22984773 PMID:22995991 PMID:23008441 PMID:23091201 PMID:23098067 PMID:23139254 PMID:23299917 PMID:23321620 PMID:23414114 PMID:23420830 PMID:23424222 PMID:23465283 PMID:23571586 PMID:23631430 PMID:23671135 PMID:23692053 PMID:23805106 PMID:23838598 PMID:23853484 PMID:23861362 PMID:23936059 PMID:23998552 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24144883 PMID:24190697 PMID:24295898 PMID:24332150 PMID:24388587 PMID:24400668 PMID:24463578 PMID:24529773 PMID:24573164 PMID:24606995 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PMID:30165862 PMID:30193851 PMID:30244407 PMID:30246897 PMID:30364184 PMID:30419068 PMID:30476647 PMID:30609406 PMID:30615648 PMID:30662450 PMID:30828412 PMID:30847666 PMID:30891416 PMID:30972196 PMID:31043699 PMID:31191357 PMID:31447099 PMID:31470130 PMID:31521807 PMID:31534214 PMID:31610692 PMID:31657683 PMID:31696929 PMID:31737537 PMID:31847883 PMID:31865383 PMID:31866066 PMID:31928070 PMID:31928344 PMID:31981491 PMID:31983221 PMID:32009526 PMID:32048431 PMID:32091595 PMID:32145446 PMID:32161207 PMID:32233023 PMID:32268277 PMID:32323320 PMID:32371921 PMID:32431610 PMID:32449611 PMID:32533946 PMID:32553838 PMID:32600061 PMID:32746448 PMID:32826072 PMID:32850980 PMID:32880476 PMID:32893267 PMID:32917565 PMID:33029862 PMID:33087929 PMID:33131149 PMID:33164571 PMID:33221895 PMID:33232181 PMID:33338828 PMID:33500567 PMID:33552729 PMID:33641026 PMID:33919104 PMID:34019817 PMID:34122134 PMID:34219138 PMID:34379075 PMID:34426522 PMID:34461752 PMID:34539730 PMID:34546463 PMID:34555931 PMID:34620408 PMID:34628415 PMID:34649698 PMID:34678660 PMID:34843967 PMID:34930020 PMID:34935411 PMID:35027292 PMID:35113648 PMID:35124229 PMID:35703482 PMID:36129056 PMID:36303204 PMID:36516610 PMID:36973604 PMID:37061847 PMID:37432518 PMID:37461109 PMID:37732247 PMID:37894777 PMID:37904629 PMID:38241367 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
G
Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
G
Slc6a4
solute carrier family 6 member 4
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:272120
CTD MouseDO
PMID:12599191
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Snta1
syntrophin, alpha 1
susceptibility
ISO
DNA:missense mutations:cds:multiple
RGD
PMID:20009079
RGD:6771369
NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
G
Tcf4
transcription factor 4
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:25741868
NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
G
Tnni3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death
ClinVar
PMID:9241277 PMID:10098965 PMID:11735257 PMID:12531876 PMID:12707239 PMID:12746413 PMID:15607392 PMID:15961398 PMID:15992656 PMID:16020591 PMID:16288990 PMID:16531415 PMID:17027633 PMID:17463320 PMID:17599605 PMID:18269819 PMID:18408133 PMID:18409188 PMID:18423659 PMID:19035361 PMID:19289050 PMID:19449150 PMID:19651143 PMID:20031602 PMID:20161772 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21533915 PMID:21839045 PMID:22301726 PMID:22675533 PMID:23283745 PMID:23906401 PMID:24033266 PMID:24111713 PMID:24474965 PMID:25132132 PMID:25440410 PMID:25611685 PMID:25741868 PMID:26169204 PMID:26741492 PMID:27532257 PMID:27557662 PMID:28382084 PMID:28492532 PMID:29176140 PMID:29661763 PMID:29907873 PMID:30279906 PMID:31912959 PMID:31983221 PMID:35027292 More...
NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
G
Tspyl1
TSPY-like 1
ISO
sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800
RGD
PMID:15273283
RGD:1599672
NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554 Ensembl chr20:38,081,951...38,084,554
G
Ttn
titin
ISO
ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME
ClinVar
PMID:17344846 PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30471092 PMID:30535219 PMID:34088380 PMID:35027292 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:12563064
RGD:634255
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Vhl
von Hippel-Lindau tumor suppressor
ISS
OMIM:272120
MouseDO
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
G
Dse
dermatan sulfate epimerase
ISO
ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome
ClinVar
PMID:15273283 PMID:25741868
NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
G
Tspyl1
TSPY-like 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome
OMIM CTD ClinVar
PMID:15273283 PMID:25741868
NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554 Ensembl chr20:38,081,951...38,084,554
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