RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | dilated cardiomyopathy |
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Accession: | DOID:12930
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browse the term
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Definition: | An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. (DO) |
Synonyms: | exact_synonym: | LEFT VENTRICULAR DILATATION; congestive cardiomyopathies; congestive cardiomyopathy; dilated cardiomyopathies |
| narrow_synonym: | ANKRD1-related dilated cardiomyopathy; FDC; IDCM; LVNC4; NEONATAL CARDIOMYOPATHY; autosomal dominant dilated cardiomyopathy; dilated cardiomyopathy, and heart failure; dilated cardiomyopathy, autosomal recessive; dilated cardiomyopathy, dominant; dilated cardiomyopathy, recessive; familial dilated cardiomyopathy; familial idiopathic cardiomyopathies; familial idiopathic cardiomyopathy; fatal cardiomyopathy; fatal cardiomyopathy, infantile; idiopathic dilated cardiomyopathies; idiopathic dilated cardiomyopathy; idiopathic dilation cardiomyopathy; left ventricular noncompaction 4; primary dilated cardiomyopathy |
| broad_synonym: | ANKRD1-related condition |
| primary_id: | MESH:D002311 |
| xref: | EFO:0000372; EFO:0000407; EFO:0009094; EFO:0009142; EFO:0010953; GARD:221; MIM:PS115200; NCI:C84673; ORDO:217604 |
For additional species annotation, visit the
Alliance of Genome Resources.
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ABCC9 |
ATP binding cassette subfamily C member 9 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:12166651 PMID:15034580 PMID:20474083 PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28341588 PMID:28492532 PMID:31983221 PMID:34281161 More...
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RGD:1300328 |
NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477
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ABRA |
actin binding Rho activating protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16243910 |
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NCBI chr13:7,589,840...7,599,573
Ensembl chr13:7,589,665...7,599,529
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ACADVL |
acyl-CoA dehydrogenase very long chain |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9599005 PMID:18227065 PMID:21932095 PMID:25087612 PMID:25741868 PMID:26385305 PMID:27209629 PMID:28468868 PMID:28492532 PMID:31031081 PMID:34437764 PMID:35281659 More...
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NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
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ACE |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:insertion/deletion:intron |
RGD |
PMID:9270088 |
RGD:1566491 |
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ACTA1 |
actin alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:30354303 PMID:32746448 |
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NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
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ACTC1 |
actin alpha cardiac muscle 1 |
susceptibility |
ISO |
DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:9563954 PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:22464770 PMID:24033266 PMID:24503780 PMID:24736382 PMID:25201647 PMID:25741868 PMID:27532257 PMID:28416588 PMID:28492532 PMID:30371277 PMID:36252119 PMID:37342443 More...
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RGD:1559158 |
NCBI chr30:2,514,825...2,519,398
Ensembl chr30:2,514,824...2,519,382
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ACTN2 |
actinin alpha 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25224718 PMID:25741868 PMID:26899768 PMID:27287556 PMID:27896284 PMID:28492532 PMID:32931854 PMID:35656879 More...
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NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
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ADRB1 |
adrenoceptor beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9554809 PMID:18287209 |
RGD:5129132 |
NCBI chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684
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ADRB2 |
adrenoceptor beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11986409 PMID:18287209 |
RGD:5129132 |
NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
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AFF4 |
ALF transcription elongation factor 4 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:25741868 |
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NCBI chr11:21,157,790...21,218,750
Ensembl chr11:21,163,398...21,218,190
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AGT |
angiotensinogen |
no_association treatment |
ISO |
DNA:polymorphisms: :p.T174M, p.M235T (human) |
RGD |
PMID:9270088 PMID:22120037 |
RGD:1566491 RGD:8549486 |
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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AGTR1 |
angiotensin II receptor type 1 |
treatment |
ISO |
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RGD |
PMID:20886512 PMID:22120037 |
RGD:5129198 RGD:8549486 |
NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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AGTR2 |
angiotensin II receptor type 2 |
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ISO |
protein:increased expression:heart mRNA, protein:increased expression:heart left ventricle |
RGD |
PMID:9815151 PMID:22120037 |
RGD:6903900 RGD:8549486 |
NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853
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AKAP9 |
A-kinase anchoring protein 9 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31418098 |
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NCBI chr14:17,590,256...17,743,646
Ensembl chr14:17,590,772...17,740,294
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ALDOA |
aldolase, fructose-bisphosphate A |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,077,241...18,083,053
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22447358 |
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NCBI chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625
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ANK2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28341588 PMID:28492532 PMID:30415094 PMID:33004838 More...
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NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
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ANKRD1 |
ankyrin repeat domain 1 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18273862 PMID:19525294 PMID:19589340 PMID:19608030 PMID:19608031 PMID:21520333 PMID:22337857 PMID:22388920 PMID:22892539 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25089522 PMID:25741868 PMID:26383259 PMID:27114410 PMID:27143260 PMID:27532257 PMID:28166811 PMID:28492532 PMID:28518168 PMID:28672880 PMID:28794111 PMID:29447731 PMID:30659708 PMID:30847666 PMID:31737537 PMID:31983221 PMID:32880476 PMID:33996946 PMID:35087879 More...
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NCBI chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956
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ANKRD37 |
ankyrin repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:45,230,095...45,233,411
Ensembl chr16:45,230,096...45,233,418
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APOE |
apolipoprotein E |
susceptibility |
ISO |
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RGD |
PMID:16714771 |
RGD:1601240 |
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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ARVCF |
ARVCF delta catenin family member |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr26:29,304,710...29,359,110
Ensembl chr26:29,307,351...29,359,245
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ASPHD1 |
aspartate beta-hydroxylase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217
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ATM |
ATM serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24358288 |
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NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036
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AXIN2 |
axin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung |
CTD RGD |
PMID:29394407 PMID:33092439 |
RGD:151356921 |
NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
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BAG3 |
BAG cochaperone 3 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:2159883 PMID:21353195 PMID:21459883 PMID:21898660 PMID:22337857 PMID:23861362 PMID:24033266 PMID:24558114 PMID:24623017 PMID:25008357 PMID:25448463 PMID:25728519 PMID:25741868 PMID:25741870 PMID:25925243 PMID:26467025 PMID:26512958 PMID:27042682 PMID:27321750 PMID:27896284 PMID:28166811 PMID:28436997 PMID:28492532 PMID:28669108 PMID:28737513 PMID:28798025 PMID:30012837 PMID:30442290 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32458740 PMID:33989081 PMID:34213952 PMID:34935411 PMID:36642055 PMID:39481677 More...
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NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138
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BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:23980359 PMID:26004897 |
RGD:10054117 RGD:13782348 |
NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
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BCKDK |
branched chain keto acid dehydrogenase kinase |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,128,615...17,132,925
Ensembl chr 6:17,128,824...17,133,585
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BCL2 |
BCL2 apoptosis regulator |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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BCL2L1 |
BCL2 like 1 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
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BCL7C |
BAF chromatin remodeling complex subunit BCL7C |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,305,670...17,354,375
Ensembl chr 6:17,293,776...17,340,526
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BOLA2B |
bolA family member 2B |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,170,106...18,171,012
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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C10H2orf49 |
chromosome 10 C2orf49 homolog |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25358972 PMID:25741868 PMID:27532257 PMID:27854218 PMID:28166811 PMID:28492532 PMID:31333075 PMID:31568572 PMID:33932144 More...
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NCBI chr10:38,077,162...38,089,899
Ensembl chr10:38,080,267...38,089,850
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C28H10orf71 |
chromosome 28 C10orf71 homolog |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr28:1,221,423...1,250,122
Ensembl chr28:1,245,117...1,249,388
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C6H16orf54 |
chromosome 6 C16orf54 homolog |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,811,506...17,815,122
Ensembl chr 6:17,812,667...17,853,083
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C6H16orf92 |
chromosome 6 C16orf92 homolog |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126
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CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
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CACNB2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286
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CACNB4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
susceptibility |
ISO |
DNA:SNPs:introns: |
RGD |
PMID:29495422 |
RGD:13515053 |
NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140 Ensembl chr19:52,993,618...53,116,140
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CACNG8 |
calcium voltage-gated channel auxiliary subunit gamma 8 |
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ISO |
mRNA,protein:decreased expression:left ventricule: |
RGD |
PMID:26710323 |
RGD:11353143 |
NCBI chr 1:103,245,102...103,263,154
Ensembl chr 1:103,250,132...103,263,178
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CALR3 |
calreticulin 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29988065 |
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NCBI chr20:46,039,115...46,060,834
Ensembl chr20:46,039,115...46,060,814
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CAP2 |
cyclase associated actin cytoskeleton regulatory protein 2 |
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ISO |
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MouseDO |
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NCBI chr35:16,336,716...16,476,166
Ensembl chr35:16,336,753...16,474,913
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CASP3 |
caspase 3 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
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CASP8 |
caspase 8 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
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CASP9 |
caspase 9 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484
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CASQ2 |
calsequestrin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20530761 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More...
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NCBI chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708
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CASZ1 |
castor zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 2:85,194,640...85,218,068
Ensembl chr 2:85,176,161...85,232,920
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CAT |
catalase |
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ISO |
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RGD |
PMID:10652196 |
RGD:1581150 |
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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CCDC110 |
coiled-coil domain containing 110 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:45,158,092...45,180,280
Ensembl chr16:45,159,502...45,193,767
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CD19 |
CD19 molecule |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,419,092...18,425,524
Ensembl chr 6:18,418,241...18,425,400
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CD27 |
CD27 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr27:38,534,704...38,537,806
Ensembl chr27:38,534,707...38,537,604
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CD2BP2 |
CD2 cytoplasmic tail binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,736,932...17,739,463
Ensembl chr 6:17,737,056...17,813,626
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G |
CD36 |
CD36 molecule (CD36 blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10981864 |
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NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
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G |
CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:9495297 |
RGD:13702889 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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G |
CD70 |
CD70 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr20:53,639,315...53,642,687
Ensembl chr20:53,639,436...53,642,319
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G |
CDH2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 7:60,736,760...60,950,477
Ensembl chr 7:60,736,760...60,951,034
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G |
CDIPT |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653
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G |
CDK8 |
cyclin dependent kinase 8 |
susceptibility |
ISO |
DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) |
RGD |
PMID:34815954 |
RGD:155260314 |
NCBI chr25:13,043,949...13,179,752
Ensembl chr25:13,045,343...13,179,656
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G |
CENPF |
centromere protein F |
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ISO |
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MouseDO |
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NCBI chr 7:12,558,455...12,618,637
Ensembl chr 7:12,555,143...12,617,996
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G |
CEP85L |
centrosomal protein 85 like |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:12610310 PMID:12639993 PMID:16235537 PMID:16432188 PMID:16897780 PMID:17655857 PMID:18056057 PMID:19139388 PMID:21167350 PMID:21282613 PMID:21332051 PMID:22137083 PMID:22427649 PMID:22707725 PMID:22820313 PMID:23308118 PMID:23861362 PMID:24033266 PMID:25351510 PMID:25593317 PMID:25611685 PMID:25691538 PMID:25741868 PMID:25852082 PMID:25928149 PMID:26535225 PMID:26917049 PMID:27532257 PMID:28492532 PMID:28600387 PMID:30012515 PMID:30012837 PMID:30847666 More...
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NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054
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G |
CFAP119 |
cilia and flagella associated protein 119 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,414,722...17,419,011
Ensembl chr 6:17,414,809...17,418,848
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G |
CFAP96 |
cilia and flagella associated protein 96 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:45,175,351...45,208,647
Ensembl chr16:45,192,032...45,207,964
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G |
CFAP97 |
cilia and flagella associated protein 97 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:45,412,156...45,446,514
Ensembl chr16:45,418,785...45,453,500
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G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
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G |
CHRM2 |
cholinergic receptor muscarinic 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23408450 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 |
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NCBI chr16:11,515,727...11,665,651
Ensembl chr16:11,515,426...11,664,977
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G |
COL1A1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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G |
COMT |
catechol-O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
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G |
CORO1A |
coronin 1A |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818
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G |
COX7A1 |
cytochrome c oxidase subunit 7A1 |
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ISO |
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MouseDO |
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NCBI chr 1:116,547,179...116,548,917
Ensembl chr 1:116,547,282...116,548,917
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G |
CREB1 |
cAMP responsive element binding protein 1 |
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ISO |
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RGD |
PMID:9616213 |
RGD:734815 |
NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
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G |
CRYAB |
crystallin alpha B |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:19597569 PMID:26402864 PMID:28492532 |
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NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132
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G |
CS |
citrate synthase |
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ISO |
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RGD |
PMID:8252591 PMID:10354207 |
RGD:243048472 RGD:243048483 |
NCBI chr10:584,000...611,351
Ensembl chr10:584,904...611,436
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G |
CSF3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17334414 |
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NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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G |
CSRNP1 |
cysteine and serine rich nuclear protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16243910 |
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NCBI chr23:8,815,848...8,829,062
Ensembl chr23:8,817,053...8,822,979
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G |
CSRP3 |
cysteine and glycine rich protein 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
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...
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NCBI chr21:41,300,277...41,318,788
Ensembl chr21:41,300,425...41,318,738
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G |
CTF1 |
cardiotrophin 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:27149842 PMID:28492532 PMID:34228484 More...
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NCBI chr 6:17,299,561...17,303,095
Ensembl chr 6:17,299,561...17,303,095
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G |
CTNNA3 |
catenin alpha 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:17,364,121...19,035,836
Ensembl chr 4:17,372,245...19,017,093
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G |
CTNNB1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:20376467 PMID:29394407 |
RGD:13524857 |
NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
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G |
CTSL3 |
cathepsin L family member 3 |
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ISO |
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MouseDO |
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NCBI chr 1:72,215,774...72,219,093
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G |
CXCR3 |
C-X-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:15322218 |
RGD:1598502 |
NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
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ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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G |
DAG1 |
dystroglycan 1 |
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ISO |
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MouseDO |
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NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
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G |
DCTPP1 |
dCTP pyrophosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,679,681...17,683,644
Ensembl chr 6:17,679,722...17,683,570
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G |
DES |
desmin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9382102 PMID:9536098 PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 PMID:15800015 PMID:17221859 PMID:17325244 PMID:17439987 PMID:17576681 PMID:17720647 PMID:18061454 PMID:18653338 PMID:19151983 PMID:19181099 PMID:19587455 PMID:19716701 PMID:19763525 PMID:19879535 PMID:20171226 PMID:20423733 PMID:20448486 PMID:20474083 PMID:20696008 PMID:20981092 PMID:22106715 PMID:22153487 PMID:22215463 PMID:22275259 PMID:22337857 PMID:22403400 PMID:22484823 PMID:23143191 PMID:23155419 PMID:23299917 PMID:23349452 PMID:23575897 PMID:23815709 PMID:23861362 PMID:24033266 PMID:24088041 PMID:24503780 PMID:25394388 PMID:25557463 PMID:25590979 PMID:25617006 PMID:25741868 PMID:26097489 PMID:26467025 PMID:26633545 PMID:27393313 PMID:27532257 PMID:27810088 PMID:27854218 PMID:27896284 PMID:28074886 PMID:28256728 PMID:28416588 PMID:28492532 PMID:28611029 PMID:29247119 PMID:29382405 PMID:29386531 PMID:29915097 PMID:29915714 PMID:29926427 PMID:30023281 PMID:30615648 PMID:30847666 PMID:31514951 PMID:31609036 PMID:31912959 PMID:31983221 PMID:32093415 PMID:32150461 PMID:32403337 PMID:33373648 PMID:33500567 PMID:33823640 PMID:33874732 PMID:34426522 More...
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NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
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G |
DGKD |
diacylglycerol kinase delta |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr25:44,851,827...44,961,352
Ensembl chr25:44,851,493...44,961,364
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G |
DICER1 |
dicer 1, ribonuclease III |
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ISO |
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MouseDO |
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NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
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G |
DLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
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ISO |
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RGD |
PMID:9220309 |
RGD:13702906 |
NCBI chr12:2,305,307...2,307,711
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G |
DMD |
dystrophin |
severity |
ISO |
mRNA, protein:decreased expression:myocardium ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:12359139 PMID:16770791 PMID:19409785 PMID:19937601 PMID:20373002 PMID:21396098 PMID:21969337 PMID:23299917 PMID:23536893 PMID:24033266 PMID:24055113 PMID:25007885 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29188604 PMID:31081998 PMID:32559196 PMID:34103343 PMID:34106991 More...
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RGD:6771365 |
NCBI chr X:26,290,903...28,444,635
Ensembl chr X:26,290,910...28,333,576
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G |
DNAAF3 |
dynein axonemal assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:102,468,377...102,474,615
Ensembl chr 1:102,468,629...102,475,172
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G |
DNASE1L1 |
deoxyribonuclease 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr X:122,101,992...122,109,240
Ensembl chr X:122,101,992...122,109,165
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G |
DNM1L |
dynamin 1 like |
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ISO |
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MouseDO |
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NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957
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G |
DOC2A |
double C2 domain alpha |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265
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G |
DOLK |
dolichol kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 9:54,712,920...54,715,005
Ensembl chr 9:54,713,239...54,714,849
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G |
DPP6 |
dipeptidyl peptidase like 6 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr16:17,357,461...18,043,547
Ensembl chr16:17,357,522...18,041,822
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G |
DSC2 |
desmocollin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:205460 PMID:1245073 PMID:20400443 PMID:23514727 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28471438 PMID:28492532 PMID:29178656 PMID:33784018 PMID:35297182 More...
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NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978
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G |
DSG2 |
desmoglein 2 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 PMID:20031616 PMID:20603720 PMID:20716751 PMID:20857253 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:23178689 PMID:23299917 PMID:23671136 PMID:23861362 PMID:23889974 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24503780 PMID:24704780 PMID:25059832 PMID:25332820 PMID:25445213 PMID:25637381 PMID:25741868 PMID:25820315 PMID:26220970 PMID:26230511 PMID:27114410 PMID:27532257 PMID:28074886 PMID:28087566 PMID:28323875 PMID:28492532 PMID:28600387 PMID:29016939 PMID:29802319 PMID:30615648 PMID:30885746 PMID:31983221 PMID:34137518 PMID:34998950 More...
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NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926
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G |
DSP |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:3198322 PMID:9536098 PMID:10594734 PMID:11063735 PMID:12101406 PMID:12802069 PMID:16061754 PMID:16199547 PMID:16467215 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:19095136 PMID:19279339 PMID:19558499 PMID:20129281 PMID:20400443 PMID:20435227 PMID:20716751 PMID:20829228 PMID:20864495 PMID:21264154 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23810894 PMID:23861362 PMID:24033266 PMID:24070718 PMID:24125834 PMID:24503780 PMID:25163546 PMID:25225338 PMID:25227139 PMID:25351510 PMID:25516398 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25741868 PMID:25936878 PMID:26073755 PMID:26084686 PMID:26138720 PMID:26230511 PMID:26265630 PMID:26383259 PMID:26399581 PMID:26606670 PMID:26656175 PMID:26743238 PMID:26850880 PMID:27054166 PMID:27097650 PMID:27153395 PMID:27353043 PMID:27532257 PMID:28074886 PMID:28166811 PMID:28288337 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28611029 PMID:28759816 PMID:28790152 PMID:29062697 PMID:29178656 PMID:29633331 PMID:29915097 PMID:29915098 PMID:30012837 PMID:30382575 PMID:30398466 PMID:30615648 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30993396 PMID:31110529 PMID:31251381 PMID:31317183 PMID:31319917 PMID:31333075 PMID:31378211 PMID:31386562 PMID:31402444 PMID:31447099 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31983221 PMID:32114801 PMID:32277046 PMID:32372669 PMID:32659924 PMID:32826072 PMID:32880476 PMID:32942234 PMID:33079602 PMID:33087929 PMID:33762593 PMID:33996946 PMID:34026522 PMID:34135346 PMID:34137518 PMID:34194005 PMID:34290054 PMID:34317553 PMID:34352074 PMID:34815391 PMID:35083019 PMID:35151254 PMID:35581137 PMID:36138163 PMID:36431211 PMID:36580316 PMID:36768812 More...
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NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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G |
DTNA |
dystrobrevin alpha |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259
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G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
severity |
ISO |
rat cDNA in mouse model |
RGD |
PMID:27056896 |
RGD:401959209 |
NCBI chr31:32,564,970...32,655,232
Ensembl chr31:32,511,502...32,652,572
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G |
DYSF |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:11468312 PMID:17070050 PMID:20623375 PMID:22194990 PMID:22910291 PMID:25741868 PMID:27884173 PMID:28492532 PMID:32906206 PMID:33927379 PMID:34559919 PMID:35047756 More...
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NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
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G |
ECE1 |
endothelin converting enzyme 1 |
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ISO |
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RGD |
PMID:11145756 |
RGD:1580911 |
NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
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G |
EDN1 |
endothelin 1 |
severity |
ISO |
protein:increased expression:aorta, plasma (human) |
RGD |
PMID:10026353 |
RGD:8661756 |
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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G |
EEF1AKMT3 |
EEF1A lysine methyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:17033963 PMID:20435138 PMID:21741925 PMID:22277967 PMID:25037205 PMID:25078778 PMID:25741868 PMID:28492532 PMID:29261183 PMID:33816677 More...
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NCBI chr10:1,833,759...1,842,646
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G |
EGFR |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18599591 PMID:22646904 |
RGD:7204501 |
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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G |
EGLN1 |
egl-9 family hypoxia inducible factor 1 |
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ISO |
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RGD |
PMID:18096761 |
RGD:11251770 |
NCBI chr 4:8,053,486...8,110,791
Ensembl chr 4:8,053,837...8,109,325
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G |
ELAC2 |
elaC ribonuclease Z 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291 |
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NCBI chr 5:36,957,901...36,978,646
Ensembl chr 5:36,958,264...36,978,606
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G |
EMD |
emerin |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr X:122,050,309...122,052,629
Ensembl chr X:122,050,455...122,052,524
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G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
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RGD MouseDO |
PMID:12072561 PMID:15685397 |
RGD:1580988 RGD:734939 |
NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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G |
ESRRB |
estrogen related receptor beta |
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ISO |
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MouseDO |
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NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332
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G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 |
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NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201
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G |
FADS2 |
fatty acid desaturase 2 |
treatment |
ISO |
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RGD |
PMID:24284026 |
RGD:401901245 |
NCBI chr18:54,552,105...54,581,553
Ensembl chr18:54,553,366...54,659,654
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G |
FAS |
Fas cell surface death receptor |
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ISO |
protein:increased expression:cardiocyte CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16761189 PMID:17943461 |
RGD:1600334 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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G |
FASLG |
Fas ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17943461 |
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NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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G |
FASN |
fatty acid synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26670611 |
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NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092
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G |
FBN1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:22772377 PMID:25741868 |
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NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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G |
FBN2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
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G |
FBRS |
fibrosin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,497,612...17,509,323
Ensembl chr 6:17,497,831...17,508,446
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G |
FBXL19 |
F-box and leucine rich repeat protein 19 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,254,595...17,274,103
Ensembl chr 6:17,248,884...17,274,850
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G |
FHL2 |
four and a half LIM domains 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17416352 PMID:17576681 PMID:24033266 PMID:25358972 PMID:25741868 PMID:26627873 PMID:27854218 PMID:28166811 PMID:28492532 PMID:31333075 PMID:31568572 PMID:33932144 More...
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NCBI chr10:37,997,912...38,065,633
Ensembl chr10:37,997,942...38,065,330
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G |
FHOD3 |
formin homology 2 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088304 PMID:25741868 |
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NCBI chr 7:53,477,273...53,933,532
Ensembl chr 7:53,478,930...53,934,331
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G |
FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28688748 More...
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NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
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G |
FKTN |
fukutin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:17597323 PMID:25741868 PMID:26633542 PMID:28492532 |
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NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396
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G |
FLII |
FLII actin remodeling protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10862770 PMID:20661277 PMID:25741868 PMID:32870709 PMID:37561591 |
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NCBI chr 5:41,303,015...41,314,849
Ensembl chr 5:41,302,767...41,314,862
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G |
FLNC |
filamin C |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:15929027 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19472918 PMID:20124440 PMID:21135393 PMID:21520333 PMID:22961544 PMID:23109048 PMID:24033266 PMID:24972929 PMID:25179549 PMID:25208129 PMID:25214167 PMID:25326637 PMID:25351925 PMID:25617006 PMID:25633252 PMID:25741868 PMID:26436962 PMID:26467025 PMID:26472074 PMID:26555887 PMID:26666891 PMID:26688388 PMID:26863999 PMID:26899768 PMID:26969713 PMID:27171548 PMID:27296017 PMID:27574918 PMID:27601210 PMID:27896284 PMID:27908349 PMID:27956632 PMID:28008423 PMID:28138913 PMID:28166811 PMID:28356264 PMID:28403181 PMID:28416588 PMID:28436997 PMID:28492532 PMID:28664140 PMID:28749476 PMID:28781516 PMID:28866788 PMID:28902392 PMID:29144512 PMID:29212899 PMID:29517769 PMID:29650767 PMID:29706348 PMID:29858533 PMID:29970176 PMID:30025578 PMID:30067491 PMID:30086531 PMID:30118858 PMID:30354339 PMID:30403391 PMID:30411535 PMID:30418145 PMID:30471092 PMID:30539912 PMID:30847666 PMID:30919686 PMID:30975432 PMID:30996762 PMID:31127727 PMID:31245841 PMID:31317183 PMID:31376648 PMID:31421687 PMID:31506931 PMID:31513939 PMID:31624253 PMID:31627847 PMID:31641117 PMID:31712860 PMID:31918855 PMID:31924696 PMID:32101375 PMID:32112656 PMID:32154132 PMID:32160020 PMID:32165824 PMID:32295012 PMID:32344918 PMID:32528171 PMID:32532510 PMID:32603605 PMID:32659924 PMID:32746448 PMID:33041974 PMID:33250842 PMID:33557094 PMID:33710525 PMID:33764162 PMID:33815637 PMID:33874732 PMID:33890751 PMID:34263907 PMID:34411373 PMID:34535832 PMID:34587765 PMID:34601126 PMID:34935411 PMID:35026164 PMID:35276540 PMID:35463915 PMID:35470680 PMID:35653365 PMID:36104822 PMID:36129056 PMID:36178741 PMID:36252119 PMID:36264615 PMID:36286284 PMID:36578016 PMID:36788754 PMID:37164047 PMID:37199186 PMID:37280362 PMID:37461109 PMID:37466024 PMID:37477868 PMID:37547072 PMID:37904629 PMID:37937776 PMID:38116480 PMID:38473809 More...
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NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940
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G |
FUS |
FUS RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178
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G |
GAA |
alpha glucosidase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:1,601,092...1,615,582
Ensembl chr 9:1,601,121...1,656,597
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G |
GATA4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18076106 PMID:20874241 PMID:24033266 PMID:25741868 PMID:27374936 PMID:28492532 More...
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NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989
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G |
GATA5 |
GATA binding protein 5 |
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ISO |
DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) |
RGD |
PMID:25543888 |
RGD:155260333 |
NCBI chr24:46,417,404...46,427,617
Ensembl chr24:46,417,391...46,429,858
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G |
GATA6 |
GATA binding protein 6 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 7:65,932,114...65,962,574
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G |
GBA2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr11:52,264,959...52,277,298
Ensembl chr11:52,265,070...52,277,213
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G |
GCH1 |
GTP cyclohydrolase 1 |
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ISO |
mRNA:decreased expression:endocardium |
RGD |
PMID:15698596 |
RGD:329970287 |
NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156
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G |
GDF1 |
growth differentiation factor 1 |
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ISO |
mRNA,protein:increased expression:heart (human) |
RGD |
PMID:24275554 |
RGD:11252017 |
NCBI chr20:44,233,304...44,234,072
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G |
GDPD3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533
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G |
GJA1 |
gap junction protein alpha 1 |
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ISO |
protein:decreased expression:heart (rat) |
RGD |
PMID:12619876 PMID:26708424 |
RGD:1582667 RGD:264347602 |
NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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G |
GNAO1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy |
ClinVar |
PMID:23993195 PMID:25533962 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27068059 PMID:27625011 PMID:27864847 PMID:27916449 PMID:28357411 PMID:28492532 PMID:28688840 PMID:32581362 More...
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NCBI chr 2:59,805,675...59,980,782
Ensembl chr 2:59,806,689...59,980,398
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G |
GNAQ |
G protein subunit alpha q |
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ISO |
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RGD MouseDO |
PMID:9811897 |
RGD:1598475 |
NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065
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G |
GNB1L |
G protein subunit beta 1 like |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr26:29,454,954...29,511,019
Ensembl chr26:29,454,054...29,510,792
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G |
GPD1L |
glycerol-3-phosphate dehydrogenase 1 like |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr23:12,568,914...12,631,903
Ensembl chr23:12,522,398...12,632,447
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G |
GPX1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
DNA:polymorphism: :p.P198L (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18940188 |
RGD:2306616 |
NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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G |
GSK3A |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28701297 |
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NCBI chr 1:112,129,116...112,138,714
Ensembl chr 1:112,103,825...112,138,559
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G |
GSK3B |
glycogen synthase kinase 3 beta |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
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G |
HCN4 |
hyperpolarization activated cyclic nucleotide gated potassium channel 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28341588 PMID:28492532 |
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NCBI chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406
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G |
HDAC6 |
histone deacetylase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35764897 |
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NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427
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G |
HFE |
homeostatic iron regulator |
susceptibility |
ISO |
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RGD |
PMID:11040018 |
RGD:1582687 |
NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
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G |
HIRIP3 |
HIRA interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730
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G |
HNRNPH2 |
heterogeneous nuclear ribonucleoprotein H2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive |
ClinVar |
PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:29938792 PMID:30887513 PMID:31236915 PMID:31670473 PMID:31943778 PMID:33504798 PMID:34008892 More...
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NCBI chr X:75,320,505...75,326,651
Ensembl chr X:75,324,481...75,325,830
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G |
HOPX |
HOP homeobox |
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ISO |
mRNA:decreased expression:left ventricle |
RGD |
PMID:12920479 |
RGD:401793745 |
NCBI chr13:48,829,161...48,854,502
Ensembl chr13:48,829,338...48,858,643
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G |
HSD3B7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,220,006...17,223,985
Ensembl chr 6:17,219,574...17,223,114
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G |
IGF1 |
insulin like growth factor 1 |
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ISO |
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RGD |
PMID:11934830 |
RGD:1598419 |
NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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G |
IL10 |
interleukin 10 |
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ISO |
mRNA:decreased expression:heart left ventricle |
RGD |
PMID:19242323 |
RGD:2311057 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
IL13RA2 |
interleukin 13 receptor subunit alpha 2 |
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ISO |
protein:increased expression:myocardium |
RGD |
PMID:18362439 |
RGD:2298568 |
NCBI chr X:87,747,373...87,776,797
Ensembl chr X:87,747,373...87,776,798
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G |
ILK |
integrin linked kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr21:29,911,326...29,917,972
Ensembl chr21:29,911,364...29,917,974
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G |
INO80E |
INO80 complex subunit E |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308
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G |
IRF4 |
interferon regulatory factor 4 |
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ISO |
protein:decreased expression:heart |
RGD |
PMID:23589561 |
RGD:11530060 |
NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
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G |
IRX5 |
iroquois homeobox 5 |
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ISO |
mRNA:increased expression:heart left ventricle (human) |
RGD |
PMID:16753336 |
RGD:329950575 |
NCBI chr 2:60,957,353...60,978,782
Ensembl chr 2:60,968,193...61,041,385
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G |
ISL1 |
ISL LIM homeobox 1 |
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ISO |
DNA:mutation:cds:c.631A>T(human) |
RGD |
PMID:30536204 |
RGD:243049244 |
NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183
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G |
ITGAL |
integrin subunit alpha L |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,605,611...17,645,134
Ensembl chr 6:17,605,760...17,644,986
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G |
ITGB1 |
integrin subunit beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11884376 |
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NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961
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G |
ITGB1BP2 |
integrin subunit beta 1 binding protein 2 |
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ISO |
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RGD |
PMID:12496958 |
RGD:1582491 |
NCBI chr X:55,632,566...55,652,801
Ensembl chr X:55,633,060...55,636,868
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G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
no_association |
ISO |
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RGD |
PMID:8567977 |
RGD:1556475 |
NCBI chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
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G |
JPH2 |
junctophilin 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30384889 PMID:30615648 |
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NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228
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G |
JUP |
junction plakoglobin |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 PMID:24033266 PMID:25616645 PMID:25741868 PMID:25820315 PMID:27532257 PMID:27662471 PMID:27930701 PMID:28471438 PMID:28492532 PMID:28831623 PMID:31402444 PMID:31983221 PMID:32233023 PMID:34026867 PMID:35581137 More...
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NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
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G |
KAT8 |
lysine acetyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,114,528...17,125,287
Ensembl chr 6:17,114,528...17,125,203
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G |
KCND3 |
potassium voltage-gated channel subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr17:63,470,829...63,668,354
Ensembl chr17:63,470,415...63,668,035
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G |
KCNE1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292 PMID:38816749 |
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NCBI chr31:29,858,428...29,868,315
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G |
KCNE2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr31:29,777,154...29,777,839
Ensembl chr31:29,581,658...29,777,525
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G |
KCNH2 |
potassium voltage-gated channel subfamily H member 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653 PMID:25741868 PMID:28492532 More...
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NCBI chr16:15,009,031...15,041,786
Ensembl chr16:15,009,031...15,041,504
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G |
KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:5,736,544...5,760,705
Ensembl chr 5:5,740,176...5,760,866
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G |
KCTD13 |
potassium channel tetramerization domain containing 13 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232
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G |
KIF22 |
kinesin family member 22 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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ISO |
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RGD |
PMID:15864294 |
RGD:1581757 |
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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G |
LAMA2 |
laminin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914
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G |
LAMA4 |
laminin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 PMID:31333075 PMID:31568572 More...
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NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762
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G |
LAMP2 |
lysosomal associated membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:21415759 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr X:92,405,946...92,444,527
Ensembl chr X:92,407,950...92,444,765
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G |
LAT |
linker for activation of T cells |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,458,985...18,462,463
Ensembl chr 6:18,459,061...18,462,694
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G |
LCK |
LCK proto-oncogene, Src family tyrosine kinase |
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ISO |
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RGD |
PMID:17711737 |
RGD:2316557 |
NCBI chr 2:68,940,816...68,964,585
Ensembl chr 2:68,941,249...68,964,567
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G |
LDB3 |
LIM domain binding 3 |
no_association |
ISO |
DNA:missense mutation: :p.D117N (human) ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:9536098 PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:17576681 PMID:19377068 PMID:19412328 PMID:20474083 PMID:20590677 PMID:20852297 PMID:22337857 PMID:22464770 PMID:22619057 PMID:22929165 PMID:22995991 PMID:23299917 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24647531 PMID:25041374 PMID:25163546 PMID:25351510 PMID:25616123 PMID:25617006 PMID:25741868 PMID:26419279 PMID:26467025 PMID:26636822 PMID:27435932 PMID:27561770 PMID:27896284 PMID:28166811 PMID:28492532 PMID:29032884 PMID:29255176 PMID:30847666 PMID:31078652 PMID:31333075 PMID:31568572 PMID:31737537 PMID:33500567 PMID:33552729 PMID:34935411 PMID:35087879 PMID:35581137 PMID:36178741 More...
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RGD:11527732 |
NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509
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G |
LEF1 |
lymphoid enhancer binding factor 1 |
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ISO |
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RGD |
PMID:16738313 |
RGD:11252001 |
NCBI chr32:28,516,002...28,633,759
Ensembl chr32:28,517,108...28,634,019
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G |
LEPR |
leptin receptor |
susceptibility |
ISO |
DNA:missense mutation:CDS:p.Q223R (human) |
RGD |
PMID:19337797 |
RGD:2311129 |
NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
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G |
LMNA |
lamin A/C |
severity |
ISO |
DNA:missense mutations, deletion:cds:multiple (human) ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:262236 PMID:1839274 PMID:2007407 PMID:2270059 PMID:2280636 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 PMID:4740717 PMID:8344919 PMID:8619549 PMID:8621584 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10908904 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102526 PMID:11102973 PMID:11136544 PMID:11138304 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11792810 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12486434 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12714972 PMID:12716787 PMID:12768443 PMID:12783988 PMID:12788894 PMID:12854972 PMID:12920062 PMID:12927424 PMID:12927431 PMID:12938084 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15032975 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15184648 PMID:15219508 PMID:15286156 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15720451 PMID:15724423 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15832002 PMID:15843404 PMID:15965218 PMID:15972724 PMID:15982412 PMID:15998779 PMID:16046620 PMID:16061563 PMID:16126733 PMID:16156025 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16218190 PMID:16266469 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16459536 PMID:16537768 PMID:16584978 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:16738054 PMID:16772334 PMID:16809772 PMID:16825282 PMID:16965317 PMID:16990647 PMID:17076270 PMID:17107595 PMID:17136397 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17386158 PMID:17459035 PMID:17459069 PMID:17469202 PMID:17511383 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17599607 PMID:17605093 PMID:17612587 PMID:17711925 PMID:17760566 PMID:17848409 PMID:17893350 PMID:17967828 PMID:17987279 PMID:18031519 PMID:18035086 PMID:18035816 PMID:18041775 PMID:18182166 PMID:18337098 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18538321 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18646565 PMID:18714801 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18808171 PMID:18816602 PMID:18926329 PMID:19011997 PMID:19070492 PMID:19084400 PMID:19167105 PMID:19172989 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19328042 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:19882644 PMID:19933576 PMID:20074070 PMID:20127487 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20576434 PMID:20580717 PMID:20590677 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21085127 PMID:21151901 PMID:21173262 PMID:21179469 PMID:21251803 PMID:21315846 PMID:21346069 PMID:21400569 PMID:21462202 PMID:21465660 PMID:21479595 PMID:21483645 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21689390 PMID:21738662 PMID:21818408 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21883346 PMID:21945321 PMID:21970986 PMID:21980471 PMID:21989830 PMID:22068161 PMID:22071332 PMID:22103509 PMID:22148005 PMID:22177269 PMID:22186027 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22337857 PMID:22355414 PMID:22413764 PMID:22431096 PMID:22464770 PMID:22526018 PMID:22549407 PMID:22570643 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PMID:31476771 PMID:31498906 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31527676 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31957533 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32021920 PMID:32041611 PMID:32041989 PMID:32083564 PMID:32155092 PMID:32160020 PMID:32193531 PMID:32297714 PMID:32376792 PMID:32413188 PMID:32455078 PMID:32456328 PMID:32458740 PMID:32461654 PMID:32517491 PMID:32528171 PMID:32571898 PMID:32616434 PMID:32666643 PMID:32685188 PMID:32695585 PMID:32698523 PMID:32727917 PMID:32746448 PMID:32789579 PMID:32789750 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32846814 PMID:32880476 PMID:32913962 PMID:32939435 PMID:32943904 PMID:33029862 PMID:33038109 PMID:33070394 PMID:33258288 PMID:33304817 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33500567 PMID:33502018 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33824984 PMID:33887581 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34135346 PMID:34213952 PMID:34240052 PMID:34292171 PMID:34317510 PMID:34340952 PMID:34363016 PMID:34495297 PMID:34621001 PMID:34638534 PMID:34680903 PMID:34720847 PMID:34768595 PMID:34773379 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34935411 PMID:34954454 PMID:34975533 PMID:34999423 PMID:35026164 PMID:35239206 PMID:35284542 PMID:35288587 PMID:35291351 PMID:35384599 PMID:35387801 PMID:35434999 PMID:35449878 PMID:35470684 PMID:35526016 PMID:35528128 PMID:35533453 PMID:35535697 PMID:35581137 PMID:35653365 PMID:35772917 PMID:35887646 PMID:36111332 PMID:36178741 PMID:36253810 PMID:36264615 PMID:36267857 PMID:36282542 PMID:36352512 PMID:36397776 PMID:36646731 PMID:36704457 PMID:36732629 PMID:36971006 PMID:37178278 PMID:37246508 PMID:37589201 PMID:37652022 PMID:37679847 PMID:37904629 PMID:38048861 PMID:38247853 PMID:38489124 PMID:38691546 More...
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RGD:1580515 |
NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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G |
LMOD2 |
leiomodin 2 |
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ISO |
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MouseDO |
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NCBI chr14:11,916,842...11,924,616
Ensembl chr14:11,917,878...11,924,438
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G |
LOC100687127 |
thioredoxin-like |
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ISO |
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RGD |
PMID:12870673 |
RGD:1580782 |
NCBI chr X:82,986,288...82,986,753
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G |
LOC100687687 |
60S ribosomal protein L36a-like |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy |
ClinVar |
PMID:25741868 PMID:27545675 PMID:30887513 PMID:31236915 PMID:31670473 PMID:31943778 PMID:32335897 PMID:33728377 PMID:34907471 More...
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NCBI chr 4:62,275,030...62,275,422
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G |
LPL |
lipoprotein lipase |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic |
ClinVar |
PMID:28492532 PMID:32041611 PMID:33303402 |
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NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
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G |
LRP2BP |
LRP2 binding protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:45,243,317...45,271,479
Ensembl chr16:45,243,342...45,271,361
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G |
LRRC10 |
leucine rich repeat containing 10 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28032242 PMID:28166811 PMID:28492532 |
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NCBI chr10:11,582,160...11,585,381
Ensembl chr10:11,584,511...11,585,350
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G |
LTBP2 |
latent transforming growth factor beta binding protein 2 |
treatment |
ISO |
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RGD |
PMID:31512380 |
RGD:156431214 |
NCBI chr 8:47,657,618...47,758,257
Ensembl chr 8:47,659,363...47,760,938
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
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G |
MAP2K5 |
mitogen-activated protein kinase kinase 5 |
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ISO |
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RGD |
PMID:11387209 |
RGD:1580866 |
NCBI chr30:31,665,032...31,920,792
Ensembl chr30:31,664,564...31,920,751
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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ISO |
protein:increased phosphorylation:heart (human) |
RGD |
PMID:27249171 |
RGD:155646134 |
NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850
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G |
MAPK3 |
mitogen-activated protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
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G |
MAS1 |
MAS1 proto-oncogene, G protein-coupled receptor |
treatment |
ISO |
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RGD |
PMID:22120037 |
RGD:8549486 |
NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244
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G |
MAZ |
MYC associated zinc finger protein |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197
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G |
MDM4 |
MDM4 regulator of p53 |
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ISO |
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MouseDO |
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NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166
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G |
MED1 |
mediator complex subunit 1 |
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ISO |
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RGD MouseDO |
PMID:27548259 |
RGD:13513972 |
NCBI chr 9:22,989,257...23,019,350
Ensembl chr 9:22,989,301...23,019,349
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G |
MEF2A |
myocyte enhancer factor 2A |
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ISO |
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RGD |
PMID:16469744 |
RGD:1580546 |
NCBI chr 3:41,012,103...41,177,588
Ensembl chr 3:41,015,713...41,179,448
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G |
MEF2C |
myocyte enhancer factor 2C |
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ISO |
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RGD |
PMID:16469744 |
RGD:1580546 |
NCBI chr 3:19,778,997...19,948,203
Ensembl chr 3:19,779,007...19,943,852
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G |
MFN1 |
mitofusin 1 |
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ISO |
with Mfn2 knockout |
RGD |
PMID:22052916 |
RGD:11251967 |
NCBI chr34:12,785,799...12,816,881
Ensembl chr34:12,785,856...12,815,994
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G |
MFN2 |
mitofusin 2 |
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ISO |
with Mfn1 knockout |
RGD |
PMID:22052916 |
RGD:11251967 |
NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
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G |
MIR208B |
microRNA mir-208b |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 8:3,665,163...3,665,236
Ensembl chr 8:3,665,163...3,665,236
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G |
MMP1 |
matrix metallopeptidase 1 |
severity |
ISO |
mRNA:increased expression:myocardium (human) |
RGD |
PMID:12167381 PMID:17178334 |
RGD:1582541 RGD:4890382 |
NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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G |
MMP13 |
matrix metallopeptidase 13 |
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ISO |
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RGD |
PMID:16037568 |
RGD:1582576 |
NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
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G |
MMP14 |
matrix metallopeptidase 14 |
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ISO |
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RGD |
PMID:11034943 PMID:16037568 |
RGD:1582576 RGD:1582586 |
NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
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G |
MMP2 |
matrix metallopeptidase 2 |
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ISO |
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RGD |
PMID:11034943 PMID:16037568 |
RGD:1582576 RGD:1582586 |
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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G |
MRGPRD |
MAS related GPR family member D |
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ISO |
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MouseDO |
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NCBI chr18:49,028,149...49,029,198
Ensembl chr18:49,028,149...49,029,198
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G |
MT-ATP6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644
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G |
MT-ATP8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
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G |
MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717
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G |
MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427
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G |
MT-CYB |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
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G |
MT-ND3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842
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G |
MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
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G |
MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598
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G |
MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
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G |
MTIF3 |
mitochondrial translational initiation factor 3 |
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ISO |
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MouseDO |
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NCBI chr25:12,157,301...12,171,109
Ensembl chr25:12,166,891...12,171,106
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G |
MTPN |
myotrophin |
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ISO |
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RGD |
PMID:8508536 |
RGD:1581048 |
NCBI chr16:12,316,487...12,369,148
Ensembl chr16:12,316,336...12,369,387
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G |
MVP |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184
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G |
MYBPC3 |
myosin binding protein C3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:203962 PMID:925171 PMID:1572569 PMID:2832387 PMID:7493025 PMID:8533079 PMID:9048664 PMID:9562578 PMID:11499718 PMID:11499719 PMID:11815426 PMID:12110947 PMID:12202917 PMID:12707239 PMID:12818575 PMID:12974739 PMID:14563344 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:16004897 PMID:16181148 PMID:16199542 PMID:16715312 PMID:16858239 PMID:17560888 PMID:18403758 PMID:18409188 PMID:18533079 PMID:18761664 PMID:18809796 PMID:18929575 PMID:18957093 PMID:19150014 PMID:19293840 PMID:19574547 PMID:20031618 PMID:20031619 PMID:20045868 PMID:20215591 PMID:20378854 PMID:20433692 PMID:20435227 PMID:20458009 PMID:20474083 PMID:20513729 PMID:20560008 PMID:20624503 PMID:20800588 PMID:20818890 PMID:20864638 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21511876 PMID:21750094 PMID:21835320 PMID:21839045 PMID:21959974 PMID:22122802 PMID:22194935 PMID:22267749 PMID:22337857 PMID:22361390 PMID:22386539 PMID:22464770 PMID:22563033 PMID:22589294 PMID:22763267 PMID:22857948 PMID:22907696 PMID:22958901 PMID:23054336 PMID:23140321 PMID:23197398 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23549607 PMID:23642604 PMID:23690394 PMID:23782526 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24447051 PMID:24503780 PMID:24510615 PMID:24621997 PMID:24793961 PMID:24810389 PMID:24865491 PMID:25031304 PMID:25058872 PMID:25086479 PMID:25163546 PMID:25351510 PMID:25377941 PMID:25524337 PMID:25569433 PMID:25611685 PMID:25637381 PMID:25714468 PMID:25740977 PMID:25741868 PMID:26090888 PMID:26178432 PMID:26332198 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26633542 PMID:26743238 PMID:26914223 PMID:27153395 PMID:27194543 PMID:27418595 PMID:27435932 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27600940 PMID:27650965 PMID:27831900 PMID:27885498 PMID:27896284 PMID:28214152 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28416588 PMID:28420666 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28679633 PMID:28771489 PMID:28790153 PMID:28807990 PMID:28843747 PMID:28971120 PMID:29121657 PMID:29367541 PMID:29420653 PMID:29511324 PMID:29758562 PMID:29875314 PMID:29875424 PMID:29914921 PMID:30009132 PMID:30165862 PMID:30316040 PMID:30471092 PMID:30615648 PMID:30665703 PMID:30775854 PMID:30847666 PMID:30972196 PMID:31006259 PMID:31028938 PMID:31219556 PMID:31376648 PMID:31447099 PMID:31514951 PMID:31737537 PMID:31931689 PMID:31980526 PMID:31983221 PMID:32009526 PMID:32250699 PMID:32686758 PMID:32731933 PMID:32841044 PMID:33190526 PMID:33241513 PMID:33432171 PMID:33495596 PMID:33495597 PMID:33500567 PMID:33673806 PMID:33782553 PMID:34097875 PMID:34310159 PMID:34389451 PMID:34426522 PMID:34935411 PMID:35026164 PMID:35027292 PMID:35265679 PMID:35411935 PMID:35581137 PMID:35581268 PMID:35629155 PMID:35838873 PMID:37652022 More...
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|
NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215
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G |
MYH6 |
myosin heavy chain 6 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 PMID:22194935 PMID:22361390 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24119082 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:27194543 PMID:27532257 PMID:27788187 PMID:27789736 PMID:28082330 PMID:28088328 PMID:28166811 PMID:28416588 PMID:28492532 PMID:28750076 PMID:29420653 PMID:29687901 PMID:29875424 PMID:30847666 PMID:31513939 PMID:31514951 PMID:31737537 PMID:32880476 PMID:33500567 PMID:33658040 PMID:34930662 PMID:35456442 PMID:36890431 More...
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G |
MYH7 |
myosin heavy chain 7 |
onset |
ISO |
DNA:missense mutations:exon:p.S532P, p.F764L (human) ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:737223 PMID:901918 PMID:1549699 PMID:1552912 PMID:1739523 PMID:1975599 PMID:2136805 PMID:2753225 PMID:3203908 PMID:7731997 PMID:7883988 PMID:7909436 PMID:8250038 PMID:8335820 PMID:8614836 PMID:8655135 PMID:8981935 PMID:9536098 PMID:9541100 PMID:9884344 PMID:10662815 PMID:10900182 PMID:11106718 PMID:11133230 PMID:12084606 PMID:12379228 PMID:12707239 PMID:12881443 PMID:12951062 PMID:12974739 PMID:12975413 PMID:15001446 PMID:15322983 PMID:15358028 PMID:15556047 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16199547 PMID:16715312 PMID:16754800 PMID:16858239 PMID:16911908 PMID:16983074 PMID:17019812 PMID:17125710 PMID:17192269 PMID:17351073 PMID:17372140 PMID:17495353 PMID:17576681 PMID:17599605 PMID:17947214 PMID:18175163 PMID:18258667 PMID:18365899 PMID:18414213 PMID:18506004 PMID:18519860 PMID:18533079 PMID:18555187 PMID:18660445 PMID:19293840 PMID:19412328 PMID:19477645 PMID:19808347 PMID:19854198 PMID:19864899 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20428263 PMID:20474083 PMID:20530761 PMID:20573160 PMID:20624503 PMID:20733148 PMID:20800588 PMID:20952769 PMID:20965760 PMID:21211974 PMID:21310275 PMID:21424860 PMID:21482996 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21750094 PMID:21835320 PMID:21839045 PMID:21943931 PMID:22155079 PMID:22177269 PMID:22260945 PMID:22337857 PMID:22464770 PMID:22763267 PMID:22918376 PMID:22949430 PMID:22958901 PMID:23054336 PMID:23153285 PMID:23233322 PMID:23281406 PMID:23283745 PMID:23299917 PMID:23313350 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23426552 PMID:23674513 PMID:23707328 PMID:23798412 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24055113 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24215330 PMID:24344137 PMID:24503780 PMID:24664454 PMID:24691700 PMID:24704860 PMID:24714796 PMID:24721642 PMID:24758099 PMID:24793961 PMID:24829265 PMID:25031304 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25326635 PMID:25332820 PMID:25342278 PMID:25351510 PMID:25448463 PMID:25524337 PMID:25576864 PMID:25607779 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25741868 PMID:25937279 PMID:25961035 PMID:26025024 PMID:26220970 PMID:26332594 PMID:26383716 PMID:26467025 PMID:26497160 PMID:26688388 PMID:26743238 PMID:26899768 PMID:27153395 PMID:27247418 PMID:27373729 PMID:27387980 PMID:27519903 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27688314 PMID:28045975 PMID:28193612 PMID:28265379 PMID:28416588 PMID:28492532 PMID:28498465 PMID:28588093 PMID:28606303 PMID:28615295 PMID:28642161 PMID:28717666 PMID:28750076 PMID:28771251 PMID:28790153 PMID:28798025 PMID:28807990 PMID:28815794 PMID:28855170 PMID:28971120 PMID:29029073 PMID:29093449 PMID:29212898 PMID:29253866 PMID:29300372 PMID:29447731 PMID:29517769 PMID:29540472 PMID:29666183 PMID:29687901 PMID:29709087 PMID:29773157 PMID:29867217 PMID:29892087 PMID:29907873 PMID:29915098 PMID:29961767 PMID:30095857 PMID:30105547 PMID:30122538 PMID:30188508 PMID:30297972 PMID:30298955 PMID:30371277 PMID:30429050 PMID:30665703 PMID:30696458 PMID:30775854 PMID:30790116 PMID:30794915 PMID:30847666 PMID:30996762 PMID:31006259 PMID:31317183 PMID:31333075 PMID:31447099 PMID:31513939 PMID:31514951 PMID:31568572 PMID:31638223 PMID:31729605 PMID:31737537 PMID:31771441 PMID:31783775 PMID:31931689 PMID:31983221 PMID:32013205 PMID:32228044 PMID:32283115 PMID:32458740 PMID:32481709 PMID:32528171 PMID:32659924 PMID:32746448 PMID:32746648 PMID:32789579 PMID:32815737 PMID:32880476 PMID:32894683 PMID:33297573 PMID:33448871 PMID:33495597 PMID:33500567 PMID:33673806 PMID:33815637 PMID:33996946 PMID:34008892 PMID:34137518 PMID:34194005 PMID:34213952 PMID:34460321 PMID:34542152 PMID:34816733 PMID:34935411 PMID:35050212 PMID:35265679 PMID:35288587 PMID:35299955 PMID:35626289 PMID:35877578 PMID:35893073 PMID:36007715 PMID:36588553 PMID:37240454 PMID:37673932 PMID:37904629 More...
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RGD:1556469 |
NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
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G |
MYL11 |
myosin light chain 11 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:17,719,590...17,721,903
Ensembl chr 6:17,719,588...17,725,730
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G |
MYL2 |
myosin light chain 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 PMID:23343568 PMID:23396983 PMID:24033266 PMID:24055113 PMID:24111713 PMID:25524337 PMID:25637381 PMID:25741868 PMID:27483260 PMID:27532257 PMID:27600940 PMID:28492532 PMID:28750076 PMID:28771489 PMID:28855170 PMID:29253866 PMID:30403391 PMID:31019283 PMID:31323898 PMID:31771554 PMID:33495596 PMID:33495597 PMID:33732734 PMID:34935411 PMID:35026164 More...
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NCBI chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232
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G |
MYOCD |
myocardin |
|
ISO |
mRNA:increased expression:left ventricle mRNA:increased expression:heart |
MouseDO RGD |
PMID:12920479 |
RGD:401793745 |
NCBI chr 5:36,674,476...36,774,435
Ensembl chr 5:36,674,300...36,769,327
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G |
MYOM1 |
myomesin 1 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
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G |
MYPN |
myopalladin |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18006477 PMID:20801532 PMID:22286171 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26383259 PMID:26498160 PMID:26899768 PMID:27194543 PMID:27884173 PMID:27896284 PMID:28416588 PMID:28492532 PMID:30012837 PMID:30764827 PMID:30847666 PMID:31333075 PMID:31524317 PMID:31568572 PMID:31983221 PMID:32826072 PMID:32880476 PMID:33049752 PMID:34797172 PMID:35581137 PMID:36178741 PMID:36935760 PMID:37904629 PMID:37936622 More...
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NCBI chr 4:19,364,146...19,468,827
Ensembl chr 4:19,381,416...19,465,995
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G |
MYZAP |
myocardial zonula adherens protein |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:35840178 |
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NCBI chr30:22,760,852...22,850,293
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G |
NCAPH2 |
non-SMC condensin II complex subunit H2 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 PMID:28492532 More...
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NCBI chr10:16,790,137...16,801,851
Ensembl chr10:16,741,761...16,801,824
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G |
NCOA6 |
nuclear receptor coactivator 6 |
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ISO |
|
MouseDO |
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NCBI chr24:23,802,360...23,877,986
Ensembl chr24:23,802,351...23,866,792
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G |
ND4L |
NADH dehydrogenase subunit 4L |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24088041 PMID:26633545 |
|
NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207
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G |
NEBL |
nebulette |
susceptibility |
ISO |
DNA:missense mutation:cds:p.N654K (human) ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:9536098 PMID:11140941 PMID:16199547 PMID:17576681 PMID:20951326 PMID:23632046 PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 PMID:28166811 PMID:28492532 PMID:28750076 PMID:29247119 PMID:29544605 PMID:29915097 PMID:30165862 PMID:30206291 PMID:31737537 PMID:32746448 PMID:33762593 PMID:36303204 More...
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RGD:1581084 |
NCBI chr 2:11,892,132...12,234,421
Ensembl chr 2:11,858,209...12,229,718
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G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28701297 |
|
NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072
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G |
NEXN |
nexilin F-actin binding protein |
|
ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25741868 PMID:25741903 PMID:26383259 PMID:26659360 PMID:27532257 PMID:28008423 PMID:28333919 PMID:28492532 PMID:28991257 PMID:29253866 PMID:29961767 PMID:30012837 PMID:30354306 PMID:30847666 PMID:31028938 PMID:31333075 PMID:31568572 PMID:31983221 PMID:32058062 PMID:32635769 PMID:32814711 PMID:32870709 PMID:32880476 PMID:33949776 PMID:34363016 PMID:35166435 PMID:35581137 PMID:39481677 More...
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NCBI chr 6:68,963,953...69,014,874
Ensembl chr 6:68,964,187...69,107,009
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G |
NFATC2IP |
nuclear factor of activated T cells 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:18,433,421...18,444,148
Ensembl chr 6:18,432,809...18,443,922
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G |
NFATC4 |
nuclear factor of activated T cells 4 |
|
ISO |
DNA:missense mutation:cds:p.G160A (human) |
RGD |
PMID:12939651 |
RGD:1580248 |
NCBI chr 8:4,337,098...4,346,409
Ensembl chr 8:4,336,450...4,346,100
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G |
NKX2-5 |
NK2 homeobox 5 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592
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G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
mRNA:increased expression:endocardium |
RGD |
PMID:15698596 |
RGD:329970287 |
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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G |
NPPA |
natriuretic peptide A |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:heart (human) |
CTD RGD |
PMID:11986409 PMID:16762803 PMID:24275554 |
RGD:11252017 |
NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385
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G |
NPPB |
natriuretic peptide B |
ameliorates |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic mRNA,protein:increased expression:heart (human) protein:increased expression:serum |
CTD RGD |
PMID:16762803 PMID:18068619 PMID:18628775 PMID:24275554 |
RGD:11252017 RGD:2324684 |
NCBI chr 2:84,395,844...84,397,473
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G |
NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
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ISO |
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MouseDO |
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NCBI chr 3:44,135,143...44,148,836
Ensembl chr 3:44,136,463...44,148,524
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G |
NR3C2 |
nuclear receptor subfamily 3 group C member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21321305 |
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NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131
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G |
NRAP |
nebulin related anchoring protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:33534821 |
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NCBI chr28:24,522,285...24,592,267
Ensembl chr28:24,522,362...24,592,192
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G |
NTRK3 |
neurotrophic receptor tyrosine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:51,131,470...51,491,112
Ensembl chr 3:51,138,751...51,513,024
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G |
OBSCN |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
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ISO |
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RGD |
PMID:15345656 |
RGD:1580779 |
NCBI chr14:664,404...782,376
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ORAI3 |
ORAI calcium release-activated calcium modulator 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,248,900...17,253,935
Ensembl chr 6:17,248,884...17,274,850
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G |
PAGR1 |
PAXIP1 associated glutamate rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,876,740...17,879,546
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G |
PDCD1 |
programmed cell death 1 |
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ISO |
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RGD MouseDO |
PMID:14595408 |
RGD:9589058 |
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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G |
PDE9A |
phosphodiesterase 9A |
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ISO |
protein:increased expression:heart |
RGD |
PMID:25799991 |
RGD:240550109 |
NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809
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G |
PDLIM3 |
PDZ and LIM domain 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17254821 PMID:17576681 PMID:20801532 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26656175 PMID:28166811 PMID:28492532 PMID:29511324 PMID:31983221 PMID:32746448 PMID:33996946 PMID:34802252 More...
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NCBI chr16:45,111,358...45,141,444
Ensembl chr16:45,111,372...45,140,895
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G |
PDLIM5 |
PDZ and LIM domain 5 |
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ISO |
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MouseDO |
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NCBI chr32:17,294,023...17,505,212
Ensembl chr32:17,294,073...17,502,409
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G |
PGF |
placental growth factor |
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ISO |
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RGD |
PMID:21900081 |
RGD:6483574 |
NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
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G |
PHC1 |
polyhomeotic homolog 1 |
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ISO |
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MouseDO |
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NCBI chr27:36,797,327...36,816,726
Ensembl chr27:36,797,927...36,819,386
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G |
PHKG2 |
phosphorylase kinase catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,418,927...17,428,431
Ensembl chr 6:17,418,926...17,428,359
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G |
PKP2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:2163603 PMID:20400443 PMID:21378009 PMID:21636032 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25650408 PMID:25676813 PMID:25741868 PMID:26220970 PMID:26743238 PMID:27066507 PMID:27930701 PMID:28074886 PMID:28166282 PMID:28492532 PMID:28750076 PMID:31333075 PMID:31568572 PMID:32906206 PMID:33552729 PMID:33919104 PMID:35932045 PMID:36178741 More...
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NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
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PLEC |
plectin |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
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G |
PLEKHM2 |
pleckstrin homology and RUN domain containing M2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35862026 More...
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NCBI chr 2:81,864,958...81,902,682
Ensembl chr 2:81,865,640...81,880,363
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G |
PLN |
phospholamban |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:12610310 PMID:12639993 PMID:16235537 PMID:16432188 PMID:16897780 PMID:17655857 PMID:18056057 PMID:19139388 PMID:21167350 PMID:21282613 PMID:21332051 PMID:22137083 PMID:22427649 PMID:22707725 PMID:22820313 PMID:23308118 PMID:23861362 PMID:24033266 PMID:25351510 PMID:25593317 PMID:25611685 PMID:25691538 PMID:25741868 PMID:25852082 PMID:25928149 PMID:26535225 PMID:26917049 PMID:27532257 PMID:28492532 PMID:28600387 PMID:30012515 PMID:30012837 PMID:30847666 More...
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NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535
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G |
PPARGC1A |
PPARG coactivator 1 alpha |
treatment |
ISO |
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RGD |
PMID:19242323 |
RGD:2311057 |
NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
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G |
PPP1CA |
protein phosphatase 1 catalytic subunit alpha |
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ISO |
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RGD |
PMID:12024026 |
RGD:737728 |
NCBI chr18:50,062,352...50,065,166
Ensembl chr18:50,062,352...50,065,166
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G |
PPP1R13L |
protein phosphatase 1 regulatory subunit 13 like |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28069640 PMID:32666529 |
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NCBI chr 1:110,149,393...110,166,029
Ensembl chr 1:110,156,749...110,165,915
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G |
PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
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MouseDO |
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NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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G |
PPP3R1 |
protein phosphatase 3 regulatory subunit B, alpha |
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ISO |
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RGD MouseDO |
PMID:15012912 |
RGD:1580709 |
NCBI chr10:67,242,552...67,308,469
Ensembl chr10:67,244,329...67,275,487
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G |
PPP4C |
protein phosphatase 4 catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854
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G |
PRDM16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23768516 PMID:25741868 PMID:28492532 |
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NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976
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G |
PRKAG2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24938736 PMID:25741868 PMID:26265630 PMID:28492532 |
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NCBI chr16:15,521,304...15,786,237
Ensembl chr16:15,522,111...15,785,854
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G |
PRKCA |
protein kinase C alpha |
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ISO |
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RGD |
PMID:9918525 |
RGD:1581274 |
NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630
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G |
PRKCB |
protein kinase C beta |
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ISO |
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RGD |
PMID:9918525 |
RGD:1581274 |
NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185
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G |
PROX1 |
prospero homeobox 1 |
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ISO |
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MouseDO |
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NCBI chr 7:11,996,282...12,047,693
Ensembl chr 7:11,996,703...12,044,036
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G |
PRR14 |
proline rich 14 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,512,349...17,517,799
Ensembl chr 6:17,512,391...17,517,590
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G |
PRRT2 |
proline rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184
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G |
PRSS36 |
serine protease 36 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,096,996...17,107,676
Ensembl chr 6:17,096,996...17,107,420
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G |
PRSS53 |
serine protease 53 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,144,099...17,148,767
Ensembl chr 6:17,144,154...17,148,673
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G |
PRSS8 |
serine protease 8 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,110,251...17,114,564
Ensembl chr 6:17,110,300...17,114,816
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G |
PSEN1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:11389157 PMID:17186461 PMID:25741868 PMID:28492532 |
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NCBI chr 8:46,495,551...46,569,532
Ensembl chr 8:46,495,624...46,569,532
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G |
PSEN2 |
presenilin 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20458010 PMID:21483645 PMID:22412221 PMID:24754482 PMID:25741868 PMID:28492532 PMID:28985224 More...
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NCBI chr 7:38,147,157...38,163,023
Ensembl chr 7:38,147,173...38,166,722
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G |
PTGER4 |
prostaglandin E receptor 4 |
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ISO |
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MouseDO |
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NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18759865 PMID:21934682 PMID:22923420 PMID:24033266 PMID:24803665 PMID:25500235 PMID:25612910 PMID:25741868 PMID:27153395 PMID:28051113 PMID:28492532 More...
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NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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G |
QPRT |
quinolinate phosphoribosyltransferase |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,778,664...17,794,110
Ensembl chr 6:17,779,439...17,794,035
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G |
RAB1A |
RAB1A, member RAS oncogene family |
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ISO |
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MouseDO |
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NCBI chr10:64,564,351...64,590,654
Ensembl chr10:64,564,298...64,590,705
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G |
RABEP2 |
rabaptin, RAB GTPase binding effector protein 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,399,992...18,413,537
Ensembl chr 6:18,397,161...18,456,477
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G |
RAC1 |
Rac family small GTPase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16155095 |
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NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216
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G |
RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24777450 PMID:25741868 PMID:28492532 PMID:29493581 |
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NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090
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G |
RANBP1 |
RAN binding protein 1 |
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ISO |
protein:decreased expression:heart ventricle, cytoplasm (human) |
RGD |
PMID:25341891 |
RGD:9835001 |
NCBI chr26:29,211,559...29,219,247
Ensembl chr26:29,211,863...29,220,451
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G |
RBFOX1 |
RNA binding fox-1 homolog 1 |
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ISO |
mRNA:decreased expression:heart (human) |
RGD |
PMID:28949795 |
RGD:329849000 |
NCBI chr 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384
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G |
RBFOX2 |
RNA binding fox-1 homolog 2 |
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ISO |
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RGD |
PMID:25753418 |
RGD:329845877 |
NCBI chr10:28,284,836...28,494,618
Ensembl chr10:28,192,683...28,489,114
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G |
RBM20 |
RNA binding motif protein 20 |
severity |
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy DNA:missense mutations:exon 9:multiple (human) |
ClinVar RGD |
PMID:18585512 PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 PMID:22466703 PMID:22561820 PMID:23299917 PMID:23861363 PMID:23886709 PMID:24033266 PMID:24503780 PMID:24584570 PMID:25163546 PMID:25351510 PMID:25448463 PMID:25637381 PMID:25741868 PMID:25741904 PMID:26084686 PMID:26458567 PMID:26604136 PMID:27105042 PMID:27496873 PMID:27531932 PMID:27532257 PMID:27650965 PMID:27896284 PMID:28492532 PMID:28798025 PMID:29029073 PMID:29253866 PMID:29343803 PMID:29367541 PMID:29447731 PMID:29540472 PMID:29650543 PMID:29895960 PMID:30012837 PMID:30165862 PMID:30487145 PMID:30547036 PMID:30847666 PMID:30871348 PMID:30871351 PMID:30972196 PMID:31317183 PMID:31333075 PMID:31514951 PMID:31568572 PMID:31737537 PMID:31918855 PMID:32187365 PMID:32789749 PMID:32840935 PMID:32880476 PMID:32969603 PMID:33134301 PMID:33662488 PMID:34036930 PMID:34174465 PMID:34540771 PMID:35113650 PMID:35653365 PMID:35817949 PMID:39481677 More...
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RGD:11067476 |
NCBI chr28:21,971,424...22,162,798
Ensembl chr28:21,971,504...22,161,476
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G |
RBM24 |
RNA binding motif protein 24 |
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ISO |
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MouseDO |
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NCBI chr35:16,255,076...16,294,967
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G |
RBP4 |
retinol binding protein 4 |
onset |
ISO |
protein:increased expression:blood plasma (human) |
RGD |
PMID:19926600 |
RGD:329845592 |
NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
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G |
RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
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RGD |
PMID:10600520 |
RGD:1581297 |
NCBI chr 3:84,060,417...84,286,008
Ensembl chr 3:84,064,440...84,286,360
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G |
RENBP |
renin binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12612874 |
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NCBI chr X:121,782,411...121,788,928
Ensembl chr X:121,727,573...121,788,860
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G |
RNF40 |
ring finger protein 40 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,402,022...17,414,494
Ensembl chr 6:17,402,908...17,414,362
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G |
RPS6KB1 |
ribosomal protein S6 kinase B1 |
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ISO |
protein:increased activity:heart |
RGD |
PMID:16043946 |
RGD:1643022 |
NCBI chr 9:34,387,084...34,590,603
Ensembl chr 9:34,387,091...34,425,292
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G |
RTF1 |
RTF1 homolog, Paf1/RNA polymerase II complex component |
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ISO |
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MouseDO |
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NCBI chr30:8,468,001...8,524,712
Ensembl chr30:8,467,761...8,522,874
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G |
RXRA |
retinoid X receptor alpha |
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ISO |
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MouseDO |
|
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NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119
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G |
RYR2 |
ryanodine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19926015 PMID:23861362 PMID:24033266 PMID:25163546 PMID:25650408 PMID:25741868 PMID:25925909 PMID:27930701 PMID:28341588 PMID:28404607 PMID:28492532 PMID:29453246 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32152366 PMID:32268277 PMID:32746448 PMID:33829027 More...
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NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
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G |
S100B |
S100 calcium binding protein B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:18068619 |
RGD:2324684 |
NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
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G |
SCN2B |
sodium voltage-gated channel beta subunit 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
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NCBI chr 5:15,514,760...15,534,179
Ensembl chr 5:15,521,481...15,534,179
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G |
SCN4B |
sodium voltage-gated channel beta subunit 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 5:15,552,347...15,564,085
Ensembl chr 5:15,543,632...15,563,486
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G |
SCN5A |
sodium voltage-gated channel alpha subunit 5 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9521325 PMID:10807545 PMID:10807547 PMID:10966831 PMID:11463728 PMID:11804990 PMID:11997281 PMID:12193783 PMID:12471205 PMID:12569159 PMID:12639704 PMID:14500339 PMID:14760488 PMID:14985827 PMID:15161528 PMID:15599693 PMID:15671429 PMID:15689442 PMID:15851227 PMID:15992732 PMID:16061744 PMID:16132053 PMID:16155735 PMID:16239976 PMID:16267253 PMID:16379539 PMID:16453014 PMID:16453024 PMID:16611632 PMID:16712702 PMID:16731473 PMID:16922724 PMID:17161064 PMID:17185997 PMID:17210839 PMID:17275750 PMID:17442746 PMID:17675083 PMID:17892895 PMID:17967976 PMID:17993325 PMID:18048769 PMID:18093912 PMID:18156160 PMID:18362431 PMID:18378609 PMID:18426444 PMID:18452875 PMID:18508782 PMID:19026623 PMID:19056759 PMID:19083750 PMID:19302788 PMID:19305408 PMID:19305409 PMID:19412328 PMID:19561025 PMID:19716085 PMID:19799913 PMID:19841300 PMID:19862833 PMID:20110800 PMID:20129283 PMID:20403459 PMID:20458009 PMID:20470418 PMID:20486126 PMID:20981092 PMID:21167004 PMID:21325150 PMID:21385947 PMID:21483645 PMID:21498565 PMID:21596231 PMID:21621375 PMID:21622575 PMID:22277643 PMID:22338672 PMID:22581653 PMID:22685113 PMID:22710484 PMID:22766342 PMID:22899775 PMID:22984773 PMID:22995991 PMID:22999724 PMID:23091201 PMID:23299917 PMID:23571586 PMID:23631430 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24332150 PMID:24349418 PMID:24736382 PMID:24815523 PMID:24951663 PMID:25065297 PMID:25102755 PMID:25179549 PMID:25210054 PMID:25348405 PMID:25351510 PMID:25624448 PMID:25637381 PMID:25741286 PMID:25741868 PMID:25757662 PMID:25904541 PMID:25923670 PMID:26066609 PMID:26159999 PMID:26189708 PMID:26332594 PMID:26467025 PMID:26633542 PMID:26733869 PMID:26746457 PMID:27435932 PMID:27485560 PMID:27532257 PMID:27834932 PMID:27896284 PMID:27930701 PMID:28074886 PMID:28166811 PMID:28412158 PMID:28416588 PMID:28438721 PMID:28492532 PMID:28549997 PMID:28573431 PMID:28701297 PMID:28837624 PMID:28988457 PMID:29431662 PMID:29798782 PMID:29871609 PMID:29998127 PMID:30086531 PMID:30193851 PMID:30364184 PMID:30972196 PMID:31125670 PMID:31333075 PMID:31477192 PMID:31514951 PMID:31568572 PMID:31610692 PMID:31737537 PMID:31901299 PMID:31983221 PMID:32268277 PMID:32533946 PMID:32880476 PMID:32893267 PMID:33084224 PMID:33221895 PMID:34379075 PMID:34461752 PMID:34843967 PMID:34935411 PMID:37351150 PMID:37732247 More...
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NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
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G |
SCO2 |
synthesis of cytochrome C oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 PMID:28492532 More...
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NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
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G |
SDHAF4 |
succinate dehydrogenase complex assembly factor 4 |
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ISO |
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MouseDO |
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NCBI chr12:33,080,545...33,089,944
Ensembl chr12:33,069,013...33,089,930
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G |
SEMA3E |
semaphorin 3E |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic |
ClinVar |
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NCBI chr18:22,881,135...22,982,549
Ensembl chr18:22,881,133...23,116,696
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G |
SEPHS2 |
selenophosphate synthetase 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,667,766...17,670,007
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G |
SEPTIN1 |
septin 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,714,929...17,718,972
Ensembl chr 6:17,715,408...17,719,159
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G |
SETD1A |
SET domain containing 1A, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,224,107...17,246,527
Ensembl chr 6:17,224,694...17,245,870
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G |
SEZ6L2 |
seizure related 6 homolog like 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738
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G |
SGCB |
sarcoglycan beta |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:12566530 PMID:15938573 PMID:25135358 PMID:25741868 PMID:25862795 PMID:28492532 More...
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NCBI chr13:44,969,483...44,987,274
Ensembl chr13:44,972,473...44,987,184
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G |
SGCD |
sarcoglycan delta |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:24033266 PMID:25326637 PMID:25637381 PMID:25741868 PMID:25741913 PMID:26720722 PMID:28492532 PMID:39481677 More...
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NCBI chr 4:53,259,332...54,178,228
Ensembl chr 4:53,263,866...53,820,231
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G |
SGCG |
sarcoglycan gamma |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
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G |
SHBG |
sex hormone binding globulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25996886 |
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NCBI chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624
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G |
SIK1 |
salt inducible kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16243910 |
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NCBI chr31:37,455,130...37,466,829
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G |
SLC22A5 |
solute carrier family 22 member 5 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic |
ClinVar |
PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 |
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NCBI chr11:20,659,023...20,686,359
Ensembl chr11:20,598,888...20,683,087
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G |
SLC25A4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162
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G |
SLC8A1 |
solute carrier family 8 member A1 |
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ISO |
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RGD |
PMID:23436819 |
RGD:10053661 |
NCBI chr17:32,004,207...32,381,399
Ensembl chr17:32,005,245...32,307,700
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G |
SLX1A |
SLX1 homolog A, structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,171,190...18,174,577
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G |
SNAI1 |
snail family transcriptional repressor 1 |
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ISO |
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MouseDO |
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NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628
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G |
SNTA1 |
syntrophin alpha 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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NCBI chr24:22,636,716...22,665,828
Ensembl chr24:22,636,756...22,665,741
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G |
SNX25 |
sorting nexin 25 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:45,269,434...45,411,890
Ensembl chr16:45,269,412...45,403,719
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G |
SOD2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO RGD |
PMID:10425186 PMID:11677043 PMID:16155095 PMID:21195081 |
RGD:1580837 RGD:1581260 |
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 PMID:26350204 PMID:28492532 PMID:32603605 More...
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NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
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G |
SP4 |
Sp4 transcription factor |
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ISO |
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RGD |
PMID:15972724 |
RGD:1581308 |
NCBI chr14:35,367,764...35,444,972
Ensembl chr14:35,367,165...35,442,063
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G |
SPN |
sialophorin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,770,303...17,774,946
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G |
SPNS1 |
SPNS lysolipid transporter 1, lysophospholipid |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,450,019...18,458,456
Ensembl chr 6:18,412,219...18,459,438
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G |
SRCAP |
Snf2 related CREBBP activator protein |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,437,097...17,470,724
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G |
SRF |
serum response factor |
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ISO |
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RGD MouseDO |
PMID:16260633 |
RGD:1580754 |
NCBI chr12:11,664,441...11,673,846
Ensembl chr12:11,664,527...11,671,533
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G |
STK38 |
serine/threonine kinase 38 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr12:5,594,090...5,636,581
Ensembl chr12:5,595,840...5,636,692
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G |
STX1B |
syntaxin 1B |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,209,972...17,219,903
Ensembl chr 6:17,210,433...17,241,363
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G |
STX4 |
syntaxin 4 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370
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G |
SYNE2 |
spectrin repeat containing nuclear envelope protein 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr 8:38,373,900...38,643,544
Ensembl chr 8:38,373,964...38,643,240
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G |
TAB2 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28386937 PMID:28492532 PMID:31250519 PMID:34906501 |
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NCBI chr 1:40,125,842...40,216,455
Ensembl chr 1:40,149,569...40,215,385
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G |
TAF10 |
TATA-box binding protein associated factor 10 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr21:29,917,941...29,919,347
Ensembl chr21:29,917,947...29,919,330
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G |
TAF1A |
TATA-box binding protein associated factor, RNA polymerase I subunit A |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr38:16,827,853...16,858,506
Ensembl chr38:16,828,205...16,858,432
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G |
TAFAZZIN |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:4685904 PMID:9382096 PMID:11896212 PMID:12468278 PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 PMID:25741868 PMID:25941633 PMID:26350513 PMID:28492532 PMID:33500567 More...
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NCBI chr X:122,111,608...122,125,714
Ensembl chr X:122,111,434...122,125,506
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G |
TANGO2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr26:29,265,489...29,303,814
Ensembl chr26:29,266,256...29,304,164
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G |
TAOK2 |
TAO kinase 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185
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G |
TBC1D10B |
TBC1 domain family member 10B |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,723,041...17,735,291
Ensembl chr 6:17,726,289...17,735,410
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G |
TBX1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784
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G |
TBX20 |
T-box transcription factor 20 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29089047 PMID:31333075 PMID:31568572 |
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NCBI chr14:46,891,706...46,946,899
Ensembl chr14:46,896,228...46,947,507
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G |
TBX5 |
T-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:16183809 PMID:16917909 PMID:17534187 PMID:25741868 PMID:28492532 |
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NCBI chr26:11,462,541...11,549,699
Ensembl chr26:11,463,653...11,506,446
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G |
TBX6 |
T-box transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636
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G |
TCAP |
titin-cap |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10655062 PMID:23479141 PMID:24037902 PMID:25298746 PMID:25741868 PMID:27618135 PMID:28492532 More...
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NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012
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G |
TCF7L2 |
transcription factor 7 like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
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NCBI chr28:23,966,079...24,162,775
Ensembl chr28:23,966,073...24,163,737
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G |
TFAP2A |
transcription factor AP-2 alpha |
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ISO |
protein:increased expression:myocardium |
RGD |
PMID:14752511 |
RGD:1578494 |
NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270
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G |
TGFB3 |
transforming growth factor beta 3 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:48,920,874...48,946,037
Ensembl chr 8:48,923,423...48,945,816
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G |
TIMP3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
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MouseDO |
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NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
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G |
TJP1 |
tight junction protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574
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G |
TLCD3B |
TLC domain containing 3B |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914
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G |
TMEM219 |
transmembrane protein 219 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185
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G |
TMEM43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:16783378 PMID:18313022 PMID:19467449 PMID:20010364 PMID:20301718 PMID:21214875 PMID:22458570 PMID:22725725 PMID:23671136 PMID:23810883 PMID:23812740 PMID:24125834 PMID:24598986 PMID:25343256 PMID:25741868 PMID:26513349 PMID:28491673 PMID:28492532 PMID:29040414 PMID:29980933 PMID:30700137 More...
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NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069
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G |
TMOD1 |
tropomodulin 1 |
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ISO |
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MouseDO |
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NCBI chr11:54,853,205...54,914,236
Ensembl chr11:54,853,204...54,912,773
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G |
TMPO |
thymopoietin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:28074886 PMID:28492532 PMID:30327538 More...
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NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246
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G |
TNF |
tumor necrosis factor |
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ISO |
protein:increased expression:plasma: |
RGD MouseDO |
PMID:14984724 |
RGD:7401238 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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G |
TNFRSF4 |
TNF receptor superfamily member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
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G |
TNFRSF8 |
TNF receptor superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
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G |
TNFRSF9 |
TNF receptor superfamily member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 5:61,548,972...61,562,019
Ensembl chr 5:61,551,405...61,560,667
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G |
TNFSF4 |
TNF superfamily member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
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G |
TNFSF8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
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G |
TNFSF9 |
TNF superfamily member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr20:53,680,882...53,682,521
Ensembl chr20:53,679,880...53,682,706
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G |
TNNC1 |
troponin C1, slow skeletal and cardiac type |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20215591 PMID:21832052 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28807990 PMID:31333075 PMID:31568572 More...
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NCBI chr20:37,313,983...37,317,288
Ensembl chr20:37,311,966...37,317,321
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G |
TNNI3 |
troponin I3, cardiac type |
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ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:3144325 PMID:3349559 PMID:9241277 PMID:10098965 PMID:10806205 PMID:11735257 PMID:11815426 PMID:12531876 PMID:12707239 PMID:12746413 PMID:12860912 PMID:12923217 PMID:15070570 PMID:15524171 PMID:15607392 PMID:15698845 PMID:15961398 PMID:15992656 PMID:16020591 PMID:16199542 PMID:16199547 PMID:16288990 PMID:16352453 PMID:16531415 PMID:17027633 PMID:17463320 PMID:17599605 PMID:18006163 PMID:18175163 PMID:18269819 PMID:18403758 PMID:18408133 PMID:18409188 PMID:18414213 PMID:18423659 PMID:18467357 PMID:18533079 PMID:19035361 PMID:19289050 PMID:19449150 PMID:19645627 PMID:19651143 PMID:19914256 PMID:20031602 PMID:20035081 PMID:20057144 PMID:20086309 PMID:20161772 PMID:20350521 PMID:20474083 PMID:20641121 PMID:20800588 PMID:21239446 PMID:21310275 PMID:21511876 PMID:21533915 PMID:21777381 PMID:21799269 PMID:21839045 PMID:21896538 PMID:21967901 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22579248 PMID:22675533 PMID:22876777 PMID:22958901 PMID:23270746 PMID:23283745 PMID:23299917 PMID:23610579 PMID:23906401 PMID:23967088 PMID:24033266 PMID:24111713 PMID:24113344 PMID:24474965 PMID:24503780 PMID:24510615 PMID:25132132 PMID:25228707 PMID:25324519 PMID:25326637 PMID:25342278 PMID:25351510 PMID:25440410 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25741868 PMID:25940119 PMID:26169204 PMID:26440512 PMID:26688388 PMID:26741492 PMID:26914223 PMID:27532257 PMID:27557662 PMID:27600940 PMID:28138913 PMID:28166811 PMID:28193612 PMID:28356264 PMID:28382084 PMID:28408708 PMID:28420666 PMID:28436080 PMID:28492532 PMID:28615295 PMID:28771489 PMID:28790153 PMID:29121657 PMID:29141175 PMID:29176140 PMID:29203298 PMID:29255176 PMID:29551499 PMID:29661763 PMID:29907873 PMID:30065175 PMID:30105547 PMID:30165862 PMID:30279906 PMID:30297972 PMID:30615648 PMID:30696458 PMID:30847666 PMID:30953456 PMID:31006259 PMID:31333075 PMID:31513939 PMID:31534214 PMID:31568572 PMID:31737537 PMID:31877599 PMID:31912959 PMID:32278834 PMID:32458740 PMID:32492895 PMID:32686758 PMID:32731933 PMID:32746448 PMID:32830170 PMID:32870709 PMID:33029862 PMID:33407484 PMID:33487615 PMID:33495596 PMID:33495597 PMID:33673806 PMID:34036930 PMID:34137518 PMID:34213952 PMID:34286374 PMID:34363016 PMID:35050212 PMID:35288587 PMID:35470680 PMID:35535697 PMID:35838873 PMID:36129056 PMID:36252119 PMID:36264615 PMID:36291626 PMID:36981019 PMID:37652022 PMID:38795101 PMID:38938358 More...
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NCBI chr 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318
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G |
TNNI3K |
TNNI3 interacting kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:27618451 PMID:28492532 PMID:37199186 PMID:37325914 |
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NCBI chr 6:71,825,853...72,107,832
Ensembl chr 6:71,815,734...72,119,476
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G |
TNNT1 |
troponin T1, slow skeletal type |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:102,479,617...102,490,776
Ensembl chr 1:102,366,801...102,491,147
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G |
TNNT2 |
troponin T2, cardiac type |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:181617 PMID:209243 PMID:936231 PMID:2025668 PMID:7898523 PMID:11684629 PMID:12707239 PMID:12818575 PMID:12881443 PMID:12923187 PMID:14636924 PMID:14654368 PMID:15464434 PMID:15542288 PMID:15623536 PMID:15769782 PMID:15923195 PMID:15958377 PMID:16093482 PMID:17101185 PMID:17278368 PMID:17932326 PMID:18056765 PMID:18154728 PMID:18349139 PMID:18467357 PMID:18506004 PMID:18606313 PMID:18612386 PMID:19253838 PMID:19324435 PMID:19412328 PMID:19466586 PMID:19645627 PMID:19914256 PMID:20031601 PMID:20031618 PMID:20083571 PMID:20215591 PMID:20298698 PMID:20973921 PMID:21310275 PMID:21415410 PMID:21424860 PMID:21483645 PMID:21551322 PMID:21846512 PMID:22292720 PMID:22337857 PMID:22429680 PMID:22464770 PMID:22517884 PMID:22675533 PMID:22958901 PMID:23074333 PMID:23349452 PMID:23539503 PMID:23861362 PMID:24033266 PMID:24093860 PMID:24119082 PMID:24205113 PMID:24367593 PMID:24503780 PMID:24721642 PMID:24992688 PMID:25132132 PMID:25524337 PMID:25611685 PMID:25681424 PMID:25741868 PMID:25741915 PMID:25741916 PMID:25741917 PMID:26084686 PMID:26095046 PMID:26498512 PMID:26507537 PMID:26656454 PMID:26779504 PMID:26899768 PMID:27153395 PMID:27332903 PMID:27411801 PMID:27532257 PMID:27576561 PMID:27757084 PMID:28007021 PMID:28008009 PMID:28246128 PMID:28255936 PMID:28352236 PMID:28416588 PMID:28492532 PMID:28588840 PMID:28669108 PMID:28706299 PMID:28973951 PMID:29121657 PMID:29367539 PMID:29367541 PMID:29773157 PMID:30297972 PMID:30565988 PMID:30763825 PMID:30847666 PMID:30871747 PMID:31333075 PMID:31373515 PMID:31514951 PMID:31521807 PMID:31568572 PMID:31648988 PMID:31918855 PMID:31931689 PMID:31937807 PMID:31983221 PMID:32098556 PMID:32355288 PMID:32458740 PMID:32618513 PMID:32659924 PMID:32690703 PMID:32880476 PMID:32969603 PMID:33019804 PMID:33025817 PMID:33083013 PMID:33223521 PMID:33297573 PMID:33495596 PMID:33906374 PMID:33996946 PMID:34135346 PMID:34161147 PMID:34213952 PMID:34350506 PMID:34540771 PMID:34853230 PMID:35653365 PMID:36252119 PMID:36264615 PMID:36578016 PMID:38473809 PMID:39481677 More...
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NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741
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G |
TP53 |
tumor protein p53 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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G |
TPM1 |
tropomyosin 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9400381 PMID:11106625 PMID:18533079 PMID:20117437 PMID:20159828 PMID:20215591 PMID:20530761 PMID:21310275 PMID:21483645 PMID:23508784 PMID:23539503 PMID:23674513 PMID:24033266 PMID:24503780 PMID:24691700 PMID:25031304 PMID:25241052 PMID:25242052 PMID:25326635 PMID:25525159 PMID:25548289 PMID:25611685 PMID:25741868 PMID:26899768 PMID:27177193 PMID:27532257 PMID:28359939 PMID:28492532 PMID:28600229 PMID:28603979 PMID:28798025 PMID:29024827 PMID:29447731 PMID:29496559 PMID:29517769 PMID:29644095 PMID:30188508 PMID:30240712 PMID:30297972 PMID:30371277 PMID:30513141 PMID:30847666 PMID:30923642 PMID:31270709 PMID:31333075 PMID:31568572 PMID:32600061 PMID:33888711 PMID:33906374 PMID:34036930 PMID:34076677 PMID:34137518 PMID:34834072 PMID:34935411 PMID:36178741 PMID:36252119 PMID:37342443 PMID:37904629 More...
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NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442
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G |
TRDN |
triadin |
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ISO |
protein:decreased expression:heart |
RGD |
PMID:17400717 |
RGD:7327229 |
NCBI chr 1:62,402,763...62,762,717
Ensembl chr 1:62,402,642...62,762,722
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G |
TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346
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G |
TTN |
titin |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:10051295 PMID:11788824 PMID:12145747 PMID:15802564 PMID:16733766 PMID:17344846 PMID:17444505 PMID:17576681 PMID:18414213 PMID:18948003 PMID:21520333 PMID:21810661 PMID:22028589 PMID:22335739 PMID:22526018 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23478172 PMID:23486992 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24055113 PMID:24105469 PMID:24119082 PMID:24231549 PMID:24271327 PMID:24319099 PMID:24395473 PMID:24459294 PMID:24503780 PMID:24569025 PMID:24578547 PMID:24667040 PMID:24980681 PMID:25163546 PMID:25179549 PMID:25214167 PMID:25326635 PMID:25326637 PMID:25448463 PMID:25589632 PMID:25741868 PMID:25741918 PMID:25741919 PMID:25741920 PMID:25741921 PMID:25741922 PMID:25741923 PMID:25741924 PMID:25741925 PMID:25741926 PMID:25741927 PMID:25741928 PMID:25741929 PMID:25741930 PMID:25741931 PMID:25741932 PMID:25741933 PMID:25741934 PMID:25741935 PMID:25741936 PMID:25741937 PMID:25741938 PMID:25741939 PMID:25741942 PMID:25741943 PMID:25741944 PMID:25741945 PMID:25741946 PMID:25741947 PMID:25741948 PMID:25741949 PMID:25741950 PMID:25741951 PMID:25741952 PMID:25987458 PMID:26272908 PMID:26315439 PMID:26406308 PMID:26467025 PMID:26516846 PMID:26627873 PMID:26639818 PMID:26701604 PMID:26735901 PMID:26773040 PMID:26777568 PMID:26899768 PMID:27066507 PMID:27066551 PMID:27159402 PMID:27194543 PMID:27437900 PMID:27437901 PMID:27493940 PMID:27532257 PMID:27588451 PMID:27662471 PMID:27796757 PMID:27813223 PMID:27854218 PMID:27869827 PMID:27886618 PMID:27930701 PMID:28045975 PMID:28087566 PMID:28135719 PMID:28138913 PMID:28255936 PMID:28256728 PMID:28295036 PMID:28333919 PMID:28416588 PMID:28492532 PMID:28611029 PMID:28716623 PMID:28771489 PMID:28798025 PMID:28822653 PMID:28851873 PMID:28877744 PMID:28941705 PMID:29029073 PMID:29093449 PMID:29253866 PMID:29361395 PMID:29377983 PMID:29435569 PMID:29447731 PMID:29540472 PMID:29691892 PMID:29773157 PMID:29892087 PMID:29961767 PMID:29988065 PMID:30012837 PMID:30061524 PMID:30063764 PMID:30333491 PMID:30354343 PMID:30371277 PMID:30471092 PMID:30535219 PMID:30536954 PMID:30571272 PMID:30609409 PMID:30615648 PMID:30681174 PMID:30847666 PMID:31112426 PMID:31127727 PMID:31216868 PMID:31251381 PMID:31286020 PMID:31317183 PMID:31333075 PMID:31402444 PMID:31514951 PMID:31539150 PMID:31568572 PMID:31618753 PMID:31660661 PMID:31691645 PMID:31712709 PMID:31727422 PMID:31737537 PMID:31931689 PMID:31980526 PMID:31983221 PMID:32039858 PMID:32123317 PMID:32160020 PMID:32233023 PMID:32235935 PMID:32277046 PMID:32371228 PMID:32528171 PMID:32597815 PMID:32603605 PMID:32659924 PMID:32746448 PMID:32778822 PMID:32815318 PMID:32880476 PMID:32901917 PMID:32964742 PMID:32969603 PMID:32998006 PMID:33019804 PMID:33106378 PMID:33226272 PMID:33432171 PMID:33449170 PMID:33500567 PMID:33820833 PMID:33874732 PMID:34008412 PMID:34011823 PMID:34088380 PMID:34106991 PMID:34135346 PMID:34137518 PMID:34295493 PMID:34315225 PMID:34495297 PMID:34540771 PMID:34553419 PMID:34587765 PMID:34667957 PMID:34731015 PMID:34756330 PMID:34782754 PMID:34935411 PMID:34952434 PMID:35027292 PMID:35081925 PMID:35177841 PMID:35207729 PMID:35387801 PMID:35476365 PMID:35605965 PMID:35629941 PMID:35653365 PMID:36264615 PMID:36277766 PMID:36396199 PMID:36637017 PMID:36685919 PMID:37091313 PMID:37652022 PMID:38429495 PMID:38438525 PMID:39481677 More...
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NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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G |
TUBB |
tubulin beta class I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16155095 |
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NCBI chr12:512,738...517,154
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G |
TXNRD2 |
thioredoxin reductase 2 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 PMID:28074886 PMID:28166811 PMID:28416588 PMID:28492532 PMID:31712860 PMID:31983221 PMID:32257832 More...
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NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206
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G |
UBE2I |
ubiquitin conjugating enzyme E2 I |
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ISO |
mRNA:increased expression:left ventricle |
RGD |
PMID:23360823 |
RGD:13831294 |
NCBI chr 6:39,440,123...39,453,688
Ensembl chr 6:39,440,314...39,817,588
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G |
UCN |
urocortin |
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ISO |
protein:increased expression:heart left ventricle |
RGD |
PMID:11087261 PMID:14577573 |
RGD:1580792 RGD:1642796 |
NCBI chr17:21,278,512...21,280,404
Ensembl chr17:21,278,932...21,279,312
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G |
UCP1 |
uncoupling protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26670611 |
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NCBI chr19:2,254,881...2,289,902
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G |
UFSP2 |
UFM1 specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:45,208,741...45,230,041
Ensembl chr16:45,208,863...45,229,996
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G |
VCL |
vinculin |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:11815424 PMID:16949038 PMID:17785437 PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:26191084 PMID:26656175 PMID:26735901 PMID:27532257 PMID:27930701 PMID:28492532 PMID:28771489 PMID:29255176 PMID:30847666 PMID:30923642 PMID:32516855 PMID:32659924 PMID:33012304 PMID:34495297 PMID:34935411 More...
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NCBI chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633
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G |
VKORC1 |
vitamin K epoxide reductase complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,140,565...17,142,621
Ensembl chr 6:17,140,633...17,142,547
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G |
WDR12 |
WD repeat domain 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25915632 |
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NCBI chr37:11,762,598...11,787,025
Ensembl chr37:11,762,777...11,786,933
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G |
YME1L1 |
YME1 like 1 ATPase |
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ISO |
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MouseDO |
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NCBI chr 2:6,785,472...6,829,188
Ensembl chr 2:6,737,487...6,829,089
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G |
YPEL3 |
yippee like 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068
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G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
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ISO |
protein:increased expression:heart: |
RGD |
PMID:18658259 PMID:25196150 |
RGD:155882481 RGD:155882484 |
NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322
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G |
ZG16 |
zymogen granule protein 16 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,840,430...17,842,008
Ensembl chr 6:17,839,553...17,842,006
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G |
ZNF48 |
zinc finger protein 48 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,703,787...17,719,061
Ensembl chr 6:17,704,504...17,719,927
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G |
ZNF629 |
zinc finger protein 629 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,371,716...17,398,895
Ensembl chr 6:17,340,326...17,395,541
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G |
ZNF646 |
zinc finger protein 646 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,148,923...17,157,563
Ensembl chr 6:17,148,403...17,156,226
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G |
ZNF668 |
zinc finger protein 668 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,157,767...17,166,397
Ensembl chr 6:17,158,384...17,166,174
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G |
ZNF688 |
zinc finger protein 688 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,576,983...17,580,040
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G |
ZNF689 |
zinc finger protein 689 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,588,736...17,595,599
Ensembl chr 6:17,540,075...17,591,092
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G |
ZNF689 |
zinc finger protein 689 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,552,119...17,557,077
Ensembl chr 6:17,540,075...17,591,092
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G |
ZNF768 |
zinc finger protein 768 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,596,200...17,599,787
Ensembl chr 6:17,593,361...17,599,271
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G |
ZNF771 |
zinc finger protein 771 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,685,744...17,696,005
Ensembl chr 6:17,686,005...17,696,123
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G |
ZNF785 |
zinc finger protein 785 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:17,565,330...17,569,490
Ensembl chr 6:17,565,260...17,568,684
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G |
CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr34:13,915,763...13,959,574
Ensembl chr34:13,905,434...13,959,340
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G |
DNAJC19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27426421 PMID:27928778 PMID:28296734 PMID:28492532 PMID:28771251 PMID:29625556 PMID:34008892 More...
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NCBI chr34:14,199,507...14,204,736
Ensembl chr34:14,199,675...14,204,687
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G |
FXR1 |
FMR1 autosomal homolog 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr34:14,129,978...14,192,016
Ensembl chr34:14,130,017...14,191,370
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G |
LMNA |
lamin A/C |
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ISO |
DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:10580070 |
RGD:11066902 |
NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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G |
LRRC53 |
leucine rich repeat containing 53 |
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ISO |
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 |
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G |
TNNI3K |
TNNI3 interacting kinase |
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ISO |
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 PMID:29355681 PMID:30010057 PMID:31589606 PMID:33084860 PMID:34203974 PMID:37199186 More...
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NCBI chr 6:71,825,853...72,107,832
Ensembl chr 6:71,815,734...72,119,476
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G |
BMP6 |
bone morphogenetic protein 6 |
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ISO |
ClinVar Annotator: match by term: Carvajal syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845
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G |
DSP |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair |
OMIM ClinVar |
PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 PMID:9536098 PMID:9887343 PMID:10594734 PMID:11063735 PMID:11278896 PMID:11841538 PMID:12101406 PMID:12373648 PMID:12802069 PMID:12875771 PMID:15210133 PMID:15941723 PMID:16061754 PMID:16175511 PMID:16199547 PMID:16467215 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19095136 PMID:19279339 PMID:19558499 PMID:19597050 PMID:19763152 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20307669 PMID:20400443 PMID:20435227 PMID:20524011 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22240500 PMID:22406018 PMID:22454510 PMID:22555271 PMID:22795705 PMID:22949226 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 PMID:23671136 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23891292 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24341478 PMID:24440382 PMID:24448499 PMID:24503780 PMID:24598986 PMID:24704780 PMID:24784157 PMID:24825141 PMID:24938629 PMID:24967631 PMID:24981977 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25332820 PMID:25344691 PMID:25351510 PMID:25403600 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25825460 PMID:25856671 PMID:25936878 PMID:25979592 PMID:26073755 PMID:26099957 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26265630 PMID:26272908 PMID:26303123 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26688388 PMID:26718681 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID:27005929 PMID:27054166 PMID:27097650 PMID:27135274 PMID:27153395 PMID:27194543 PMID:27329731 PMID:27332903 PMID:27353043 PMID:27374306 PMID:27435932 PMID:27532257 PMID:27698334 PMID:27707468 PMID:27831900 PMID:27884173 PMID:27930701 PMID:28008423 PMID:28045975 PMID:28074886 PMID:28087426 PMID:28087566 PMID:28152038 PMID:28254189 PMID:28255936 PMID:28288337 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28416588 PMID:28436997 PMID:28442525 PMID:28471438 PMID:28472724 PMID:28473349 PMID:28492532 PMID:28527814 PMID:28588093 PMID:28600387 PMID:28611029 PMID:28750076 PMID:28759816 PMID:28767663 PMID:28784889 PMID:28790152 PMID:28798025 PMID:28912206 PMID:29016939 PMID:29032884 PMID:29062697 PMID:29095814 PMID:29165669 PMID:29178656 PMID:29181379 PMID:29192238 PMID:29247119 PMID:29253866 PMID:29255176 PMID:29334134 PMID:29386531 PMID:29420653 PMID:29511324 PMID:29517769 PMID:29555771 PMID:29590070 PMID:29606362 PMID:29607617 PMID:29618732 PMID:29633331 PMID:29750433 PMID:29759408 PMID:29773157 PMID:29802319 PMID:29878302 PMID:29884292 PMID:29885824 PMID:29892087 PMID:29915097 PMID:29915098 PMID:29956481 PMID:29997227 PMID:30011071 PMID:30012837 PMID:30086531 PMID:30122538 PMID:30133754 PMID:30165862 PMID:30206291 PMID:30217213 PMID:30276209 PMID:30291343 PMID:30345701 PMID:30354300 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30403391 PMID:30453078 PMID:30615648 PMID:30670673 PMID:30685992 PMID:30699244 PMID:30700137 PMID:30731207 PMID:30775854 PMID:30820396 PMID:30847666 PMID:30919684 PMID:30944905 PMID:30975432 PMID:30993396 PMID:31024045 PMID:31064352 PMID:31073624 PMID:31110529 PMID:31114860 PMID:31118017 PMID:31194698 PMID:31195250 PMID:31251381 PMID:31317183 PMID:31319917 PMID:31333075 PMID:31378211 PMID:31386562 PMID:31397097 PMID:31402444 PMID:31447099 PMID:31470130 PMID:31514951 PMID:31534214 PMID:31568572 PMID:31589614 PMID:31638414 PMID:31638835 PMID:31727422 PMID:31737537 PMID:31770195 PMID:31785789 PMID:31847883 PMID:31983221 PMID:32005173 PMID:32013205 PMID:32041989 PMID:32102357 PMID:32114801 PMID:32228044 PMID:32233023 PMID:32268277 PMID:32277046 PMID:32356610 PMID:32372669 PMID:32410525 PMID:32516855 PMID:32522011 PMID:32546831 PMID:32592540 PMID:32593191 PMID:32600061 PMID:32659924 PMID:32746448 PMID:32808748 PMID:32826072 PMID:32878047 PMID:32879264 PMID:32880476 PMID:32931854 PMID:32942234 PMID:32969603 PMID:33029862 PMID:33079602 PMID:33082984 PMID:33232181 PMID:33313835 PMID:33460606 PMID:33500567 PMID:33552729 PMID:33652119 PMID:33652588 PMID:33652732 PMID:33684294 PMID:33722762 PMID:33762593 PMID:33821670 PMID:33857019 PMID:33874732 PMID:33996946 PMID:34026522 PMID:34033898 PMID:34135346 PMID:34137518 PMID:34194005 PMID:34213952 PMID:34290054 PMID:34298581 PMID:34317553 PMID:34352074 PMID:34368507 PMID:34389451 PMID:34486814 PMID:34640625 PMID:34766015 PMID:34815391 PMID:34935411 PMID:34946881 PMID:34949102 PMID:35008956 PMID:35026164 PMID:35036946 PMID:35083019 PMID:35087879 PMID:35146008 PMID:35151254 PMID:35348702 PMID:35444050 PMID:35470680 PMID:35474678 PMID:35581137 PMID:35653365 PMID:35766183 PMID:35819174 PMID:36136372 PMID:36138163 PMID:36178741 PMID:36291626 PMID:36431211 PMID:36580316 PMID:36672924 PMID:36768812 PMID:36836569 PMID:36868229 PMID:37418234 PMID:37461109 PMID:37477868 PMID:37589201 PMID:37799505 PMID:37904629 PMID:37936624 PMID:37937776 PMID:38691546 More...
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NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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G |
SNRNP48 |
small nuclear ribonucleoprotein U11/U12 subunit 48 |
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ISO |
ClinVar Annotator: match by term: Carvajal syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr35:7,529,115...7,546,483
Ensembl chr35:7,529,159...7,545,620
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G |
ACTN2 |
actinin alpha 2 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
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G |
ANK2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 PMID:28191889 PMID:28492532 PMID:28518168 PMID:30564305 PMID:32461654 PMID:33004838 More...
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NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
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G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
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G |
CALM1 |
calmodulin 1 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 PMID:26164367 PMID:26309258 PMID:27165696 PMID:28492532 PMID:37380439 More...
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NCBI chr 8:61,398,231...61,408,874
Ensembl chr 8:61,398,244...61,406,195
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G |
CASQ2 |
calsequestrin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
ClinVar |
PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 PMID:16601229 PMID:16908766 PMID:17576681 PMID:17881003 PMID:18469084 PMID:18543230 PMID:18583715 PMID:18684293 PMID:19398665 PMID:19709828 PMID:20301466 PMID:20353949 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21265816 PMID:21454795 PMID:21618644 PMID:22421959 PMID:22553997 PMID:22650415 PMID:23286974 PMID:23595086 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:24679846 PMID:25163546 PMID:25351510 PMID:25640679 PMID:25651173 PMID:25691538 PMID:25741868 PMID:25741873 PMID:26230511 PMID:26671417 PMID:27114410 PMID:27157848 PMID:27538377 PMID:27930701 PMID:28074886 PMID:28158428 PMID:28361054 PMID:28404607 PMID:28492532 PMID:29032884 PMID:29178653 PMID:29255176 PMID:29544605 PMID:29766881 PMID:29915098 PMID:30600839 PMID:30615648 PMID:30729048 PMID:30775854 PMID:30847666 PMID:31482657 PMID:31589614 PMID:31983221 PMID:32298319 PMID:32574564 PMID:32693635 PMID:33093545 PMID:35932045 PMID:36291626 PMID:37347419 PMID:37477868 PMID:39481677 More...
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NCBI chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708
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G |
DMPK |
DM1 protein kinase |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
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NCBI chr 1:109,824,103...109,834,986
Ensembl chr 1:109,824,597...109,834,976
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G |
DSG2 |
desmoglein 2 |
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ISO |
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY |
ClinVar |
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 PMID:19569224 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20716751 PMID:20857253 PMID:20864495 PMID:21455723 PMID:21606390 PMID:23071725 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28087566 PMID:28472724 PMID:28492532 PMID:29038103 PMID:32268277 PMID:35087879 More...
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NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926
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G |
DSP |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 PMID:33552729 |
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NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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G |
KCNH2 |
potassium voltage-gated channel subfamily H member 2 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
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NCBI chr16:15,009,031...15,041,786
Ensembl chr16:15,009,031...15,041,504
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G |
LAMA4 |
laminin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762
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G |
LMNA |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY |
ClinVar |
PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 PMID:16584978 PMID:17107595 PMID:18478590 PMID:18808171 PMID:19524666 PMID:21400569 PMID:22761994 PMID:23861362 PMID:23977161 PMID:24503780 PMID:24623722 PMID:24794538 PMID:25210889 PMID:25448463 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28531892 PMID:30420677 PMID:31428229 PMID:32041611 PMID:32376792 PMID:32698523 PMID:32793522 PMID:32880476 PMID:34240052 PMID:37904629 PMID:38247853 More...
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NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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G |
MAB21L3 |
mab-21 like 3 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:53,583,510...53,606,091
Ensembl chr17:53,585,088...53,605,748
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
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G |
MYBPC3 |
myosin binding protein C3 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 |
|
NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215
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G |
NHLH2 |
nescient helix-loop-helix 2 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr17:53,359,275...53,363,753
Ensembl chr17:53,359,258...53,458,795
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G |
RYR2 |
ryanodine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
OMIM ClinVar |
PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 PMID:11078270 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 PMID:12106942 PMID:12169647 PMID:12459180 PMID:12837242 PMID:12919952 PMID:14571276 PMID:15131021 PMID:15175054 PMID:15197150 PMID:15364606 PMID:15364613 PMID:15466642 PMID:15544015 PMID:15721128 PMID:15749201 PMID:15887426 PMID:15890976 PMID:16084945 PMID:16188589 PMID:16199547 PMID:16239587 PMID:16272262 PMID:16339485 PMID:16391617 PMID:16436635 PMID:16517285 PMID:16769042 PMID:16818210 PMID:16825580 PMID:16843546 PMID:16873551 PMID:17062961 PMID:17556193 PMID:17558603 PMID:17576681 PMID:17875969 PMID:17984046 PMID:18092949 PMID:18285261 PMID:18326664 PMID:18483626 PMID:18752142 PMID:18836296 PMID:18849218 PMID:19102802 PMID:19216760 PMID:19226252 PMID:19330009 PMID:19398665 PMID:19541610 PMID:19597050 PMID:19709828 PMID:19781797 PMID:19913485 PMID:19926015 PMID:20080988 PMID:20106799 PMID:20132818 PMID:20157052 PMID:20301466 PMID:20538074 PMID:20646679 PMID:20676041 PMID:20851825 PMID:20961976 PMID:21048710 PMID:21126784 PMID:21292648 PMID:21315846 PMID:21454795 PMID:21478052 PMID:21616285 PMID:21652165 PMID:21659649 PMID:21742998 PMID:21768539 PMID:21954897 PMID:21964171 PMID:22068070 PMID:22174035 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22383456 PMID:22396703 PMID:22515980 PMID:22584458 PMID:22584762 PMID:22677073 PMID:22787013 PMID:22828895 PMID:22956155 PMID:23022705 PMID:23098067 PMID:23152493 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23479668 PMID:23498838 PMID:23549275 PMID:23595086 PMID:23651034 PMID:23671135 PMID:23757202 PMID:23810894 PMID:23820649 PMID:23861362 PMID:23871484 PMID:23934111 PMID:23973953 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24113177 PMID:24136861 PMID:24147812 PMID:24394973 PMID:24447446 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24793461 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25194972 PMID:25351510 PMID:25363768 PMID:25370123 PMID:25372681 PMID:25440180 PMID:25467552 PMID:25500949 PMID:25554238 PMID:25616645 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25713214 PMID:25730765 PMID:25741868 PMID:25775566 PMID:25814417 PMID:25820315 PMID:25835811 PMID:25844899 PMID:25901278 PMID:25925909 PMID:26018045 PMID:26112015 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26220970 PMID:26230511 PMID:26256814 PMID:26272908 PMID:26332594 PMID:26350513 PMID:26383259 PMID:26402605 PMID:26498160 PMID:26569459 PMID:26573135 PMID:26633542 PMID:26636822 PMID:26656175 PMID:26666913 PMID:26688388 PMID:26704558 PMID:26743238 PMID:26771585 PMID:26820365 PMID:26899768 PMID:27054166 PMID:27066507 PMID:27114410 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27251404 PMID:27332903 PMID:27353043 PMID:27435932 PMID:27452199 PMID:27482086 PMID:27532257 PMID:27538377 PMID:27646203 PMID:27650965 PMID:27727376 PMID:27733687 PMID:27756708 PMID:27810088 PMID:27838126 PMID:27854218 PMID:27930701 PMID:28074886 PMID:28087566 PMID:28100344 PMID:28123168 PMID:28125075 PMID:28135719 PMID:28150229 PMID:28158428 PMID:28166811 PMID:28191890 PMID:28202948 PMID:28237968 PMID:28255936 PMID:28341588 PMID:28359509 PMID:28404607 PMID:28416588 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28567303 PMID:28600387 PMID:28606196 PMID:28620067 PMID:28686619 PMID:28697927 PMID:28750076 PMID:28771489 PMID:28789916 PMID:28790152 PMID:28798025 PMID:28807990 PMID:28961276 PMID:28988457 PMID:29032884 PMID:29037160 PMID:29132927 PMID:29181379 PMID:29192238 PMID:29247119 PMID:29255176 PMID:29350269 PMID:29368431 PMID:29396286 PMID:29396561 PMID:29434162 PMID:29447731 PMID:29453246 PMID:29477366 PMID:29511324 PMID:29543670 PMID:29544603 PMID:29544605 PMID:29555771 PMID:29568272 PMID:29668588 PMID:29750433 PMID:29760739 PMID:29766881 PMID:29874177 PMID:29884292 PMID:29899727 PMID:29915097 PMID:29915098 PMID:29925740 PMID:29951146 PMID:30020974 PMID:30029678 PMID:30086531 PMID:30197081 PMID:30296944 PMID:30355031 PMID:30403697 PMID:30453078 PMID:30471092 PMID:30615648 PMID:30670673 PMID:30696458 PMID:30763784 PMID:30821013 PMID:30830208 PMID:30835254 PMID:30847666 PMID:30975432 PMID:30993396 PMID:31019283 PMID:31057083 PMID:31078384 PMID:31112425 PMID:31114860 PMID:31155924 PMID:31195250 PMID:31231889 PMID:31333075 PMID:31337358 PMID:31402444 PMID:31513939 PMID:31534214 PMID:31535183 PMID:31539150 PMID:31568572 PMID:31624606 PMID:31638414 PMID:31737537 PMID:31785789 PMID:31847883 PMID:31875585 PMID:31913406 PMID:31931689 PMID:31970460 PMID:32009526 PMID:32048431 PMID:32091590 PMID:32152366 PMID:32155531 PMID:32220801 PMID:32233023 PMID:32268277 PMID:32508047 PMID:32516855 PMID:32659924 PMID:32660257 PMID:32681117 PMID:32746448 PMID:32899693 PMID:33179747 PMID:33315912 PMID:33325730 PMID:33500567 PMID:33536282 PMID:33552729 PMID:33606749 PMID:33652119 PMID:33658040 PMID:33664309 PMID:33686871 PMID:33789662 PMID:33825858 PMID:33829027 PMID:33897349 PMID:33919104 PMID:34088380 PMID:34127479 PMID:34213952 PMID:34389451 PMID:34546463 PMID:34691145 PMID:34712558 PMID:34730774 PMID:34873534 PMID:34930847 PMID:34949103 PMID:35026164 PMID:35087879 PMID:35276540 PMID:35352813 PMID:35353122 PMID:35439358 PMID:35446340 PMID:35470680 PMID:35526016 PMID:35668055 PMID:35819174 PMID:35931078 PMID:35932045 PMID:36070930 PMID:36082968 PMID:36138163 PMID:36203036 PMID:36269083 PMID:36291626 PMID:36293497 PMID:36310724 PMID:36621286 PMID:36864708 PMID:36970376 PMID:37198425 PMID:37328711 PMID:37347419 PMID:37477868 PMID:37492947 PMID:37589201 PMID:37614113 PMID:37850595 PMID:37904629 PMID:38296580 PMID:38489124 PMID:38540378 PMID:38691546 PMID:39095282 More...
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NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
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G |
SCN5A |
sodium voltage-gated channel alpha subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY |
ClinVar |
PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 PMID:24033266 PMID:25351510 PMID:25741868 PMID:25904541 PMID:28492532 PMID:28600387 PMID:32048431 More...
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NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
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G |
SLC22A15 |
solute carrier family 22 member 15 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr17:53,471,790...53,539,488
Ensembl chr17:53,476,041...53,537,573
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G |
TNNI3K |
TNNI3 interacting kinase |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:71,825,853...72,107,832
Ensembl chr 6:71,815,734...72,119,476
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G |
TPM1 |
tropomyosin 1 |
|
ISO |
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442
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G |
TRDN |
triadin |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 |
ClinVar |
PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 PMID:21520333 PMID:22422768 PMID:23035052 PMID:24025405 PMID:24033266 PMID:25326635 PMID:25640679 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:27538377 PMID:27848944 PMID:28341588 PMID:28406212 PMID:28492532 PMID:30649896 PMID:30847666 PMID:31437535 PMID:31589614 PMID:31847883 PMID:31980526 PMID:32402482 PMID:32746448 PMID:33432171 PMID:33692971 PMID:33895855 PMID:34415104 PMID:35932045 PMID:36203036 PMID:36267857 More...
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NCBI chr 1:62,402,763...62,762,717
Ensembl chr 1:62,402,642...62,762,722
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G |
TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
|
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NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346
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G |
VANGL1 |
VANGL planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr17:53,174,080...53,227,616
Ensembl chr17:53,174,127...53,220,765
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G |
ABCC9 |
ATP binding cassette subfamily C member 9 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28341588 PMID:28492532 PMID:31983221 PMID:34281161 More...
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NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477
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G |
ACTC1 |
actin alpha cardiac muscle 1 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr30:2,514,825...2,519,398
Ensembl chr30:2,514,824...2,519,382
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G |
ACTN2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
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G |
ANKRD1 |
ankyrin repeat domain 1 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 PMID:25089522 PMID:25741868 PMID:27143260 PMID:28492532 PMID:28518168 PMID:28672880 PMID:31737537 More...
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NCBI chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956
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G |
BAG3 |
BAG cochaperone 3 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 PMID:28669108 PMID:32160020 PMID:36642055 More...
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NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138
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G |
DES |
desmin |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666 |
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NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
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G |
DMD |
dystrophin |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34103343 |
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NCBI chr X:26,290,903...28,444,635
Ensembl chr X:26,290,910...28,333,576
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G |
DOT1L |
DOT1 like histone lysine methyltransferase |
|
ISO |
OMIM:115200 |
MouseDO |
|
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NCBI chr20:56,805,030...56,868,771
Ensembl chr20:56,803,242...56,852,539
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G |
DSC2 |
desmocollin 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:16199547 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28153106 PMID:28492532 PMID:31931689 PMID:33662488 More...
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NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978
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G |
DSG2 |
desmoglein 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926
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G |
DSP |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24503780 PMID:25227139 PMID:25351510 PMID:25516398 PMID:25741868 PMID:26265630 PMID:28492532 PMID:29062697 PMID:29178656 PMID:29633331 PMID:30382575 PMID:30615648 PMID:30775854 PMID:33996946 More...
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NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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G |
EMD |
emerin |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:25741868 |
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NCBI chr X:122,050,309...122,052,629
Ensembl chr X:122,050,455...122,052,524
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G |
FLNC |
filamin C |
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ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:25741868 |
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NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940
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G |
HAND2 |
heart and neural crest derivatives expressed 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A |
ClinVar |
PMID:26676105 |
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NCBI chr25:24,140,496...24,143,143
Ensembl chr25:24,141,243...24,152,958
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G |
LDB3 |
LIM domain binding 3 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation |
ClinVar |
PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 PMID:20474083 PMID:20852297 PMID:23299917 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24647531 PMID:25041374 PMID:25163546 PMID:25351510 PMID:25616123 PMID:25617006 PMID:25741868 PMID:27896284 PMID:28492532 PMID:29032884 PMID:30847666 PMID:31078652 PMID:31737537 PMID:33500567 PMID:34935411 PMID:35087879 More...
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NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509
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G |
LMNA |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation |
OMIM ClinVar |
PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 PMID:4740717 PMID:8344919 PMID:8619549 PMID:8621584 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11138304 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11792810 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12467734 PMID:12467752 PMID:12486434 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12716787 PMID:12768443 PMID:12783988 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15219508 PMID:15298354 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15720451 PMID:15724423 PMID:15744034 PMID:15770669 PMID:15866440 PMID:15965218 PMID:15972724 PMID:15998779 PMID:16008174 PMID:16061563 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16584978 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16772334 PMID:16809772 PMID:16965317 PMID:16990647 PMID:17136397 PMID:17250669 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17893350 PMID:17967828 PMID:17987279 PMID:18031519 PMID:18035086 PMID:18041775 PMID:18182166 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18538321 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18606848 PMID:18646565 PMID:18714801 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19011997 PMID:19070492 PMID:19084400 PMID:19095983 PMID:19167105 PMID:19169477 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19768759 PMID:19859838 PMID:19875404 PMID:19875478 PMID:19882644 PMID:20041886 PMID:20074070 PMID:20130076 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20576434 PMID:20625965 PMID:20627339 PMID:20848652 PMID:20980393 PMID:21085127 | |