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: | Hypertrophy |
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Accession: | DOID:9000040
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browse the term
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Definition: | General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA). |
Synonyms: | exact_synonym: | Hypertrophies |
| primary_id: | MESH:D006984; RDO:0001544 |
| xref: | EFO:0002460 |
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Ager |
advanced glycosylation end product-specific receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19553346 |
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NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12054679 PMID:12237323 PMID:18785976 PMID:21071431 PMID:24039778 PMID:26955731 PMID:38356441 More...
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20961953 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Angpt1 |
angiopoietin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18502941 |
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NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27652271 |
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NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Crem |
cAMP responsive element modulator |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12791704 |
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NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
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Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18785976 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Edn1 |
endothelin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12791704 PMID:20177073 |
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NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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F2 |
coagulation factor II, thrombin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26385185 |
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NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Mapk1 |
mitogen activated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12237323 |
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NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3 |
mitogen activated protein kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12237323 |
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NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18273840 |
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NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20582486 |
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NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Npy |
neuropeptide Y |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9812770 |
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NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19211884 |
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rln1 |
relaxin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22028442 |
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NCBI chr 1:227,079,960...227,082,960
Ensembl chr 1:227,079,966...227,082,882
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Sirt1 |
sirtuin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23297412 |
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NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20177073 |
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NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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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 chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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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: 3-methylglutaconic aciduria type V CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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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 chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
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Ace |
angiotensin I converting enzyme |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:21290180 |
RGD:25671452 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Itgb3 |
integrin subunit beta 3 |
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ISO |
DNA:missense mutation: :p.L33P (human) |
RGD |
PMID:18685811 |
RGD:10755472 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) |
RGD |
PMID:18685811 |
RGD:10755472 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
DNA:polymorphism:promoter: |
RGD |
PMID:18685811 |
RGD:10755472 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Lmna |
lamin A/C |
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ISO |
DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:10580070 |
RGD:11066902 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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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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NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:243,769,297...243,803,164
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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 More...
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NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
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A2m |
alpha-2-macroglobulin |
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IDA |
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RGD |
PMID:12494268 |
RGD:1549856 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Ace |
angiotensin I converting enzyme |
treatment |
IMP |
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RGD |
PMID:24342267 |
RGD:11039415 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Acot2 |
acyl-CoA thioesterase 2 |
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IEP |
mRNA:decreased expression:heart (rat) |
RGD |
PMID:15292030 |
RGD:2315862 |
NCBI chr 6:103,611,738...103,619,404
Ensembl chr 6:103,611,544...103,619,245
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Adcy10 |
adenylate cyclase 10 |
ameliorates |
ISO |
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RGD |
PMID:29466442 |
RGD:329337358 |
NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
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Adra1b |
adrenoceptor alpha 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11278430 PMID:11940550 |
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NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
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Adra2a |
adrenoceptor alpha 2A |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20083574 |
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NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Adra2c |
adrenoceptor alpha 2C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20083574 |
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NCBI chr14:75,470,884...75,472,846
Ensembl chr14:75,471,143...75,472,846
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Agt |
angiotensinogen |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:11403367 PMID:15226216 PMID:15851630 PMID:15870116 PMID:17124262 PMID:18400235 PMID:19794523 PMID:20190099 PMID:20409916 PMID:20429690 PMID:20616315 PMID:20811386 PMID:22291909 PMID:22335191 PMID:24342267 PMID:25139994 PMID:25488910 PMID:27099261 PMID:29353218 PMID:30634441 PMID:30703374 PMID:31016362 PMID:35510648 PMID:21367774 PMID:23188126 PMID:24342267 PMID:19779471 More...
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RGD:5129174, RGD:155663352, RGD:11039415, RGD:8548902 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a |
angiotensin II receptor, type 1a |
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IMP ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17350036 PMID:21367774 PMID:11324571 PMID:10639182 |
RGD:5129174, RGD:10047105, RGD:737777 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr1b |
angiotensin II receptor, type 1b |
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IEP |
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RGD |
PMID:11324571 |
RGD:10047105 |
NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
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Agtrap |
angiotensin II receptor-associated protein |
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IEP |
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RGD |
PMID:18725581 |
RGD:2314351 |
NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
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Ahr |
aryl hydrocarbon receptor |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24247421 PMID:23528973 PMID:12665660 |
RGD:401793732, RGD:401784499 |
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Akap5 |
A-kinase anchoring protein 5 |
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ISO |
human gene, mouse model CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:11248077 PMID:11248077 |
RGD:2313290 |
NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578
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Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24448315 PMID:12237475 |
RGD:734544 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Ankrd1 |
ankyrin repeat domain 1 |
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IDA |
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RGD |
PMID:10904011 |
RGD:1578370 |
NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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Anxa2 |
annexin A2 |
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IEP |
mRNA:increased expression:heart: |
RGD |
PMID:10603972 |
RGD:10053694 |
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Anxa5 |
annexin A5 |
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IEP |
mRNA:increased expression:heart: |
RGD |
PMID:10603972 |
RGD:10053694 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Aoc1 |
amine oxidase, copper containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6218830 |
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NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840
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Apln |
apelin |
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IEP ISO |
associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30634441 PMID:16674982 |
RGD:1626173 |
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Arnt |
aryl hydrocarbon receptor nuclear translocator |
treatment |
IEP |
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RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Atf3 |
activating transcription factor 3 |
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ISO |
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RGD |
PMID:11485922 |
RGD:7327201 |
NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
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Atg16l1 |
autophagy related 16-like 1 |
treatment |
IEP |
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RGD |
PMID:24998254 |
RGD:11561938 |
NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
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Atg5 |
autophagy related 5 |
treatment |
IEP |
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RGD |
PMID:24998254 |
RGD:11561938 |
NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
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Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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IDA |
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RGD |
PMID:15644428 |
RGD:6903354 |
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
treatment |
ISO IDA |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11679415 PMID:29792884 |
RGD:13782078 |
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Atp5f1d |
ATP synthase F1 subunit delta |
treatment |
IEP |
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RGD |
PMID:25880160 |
RGD:13792672 |
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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Avpr1a |
arginine vasopressin receptor 1A |
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IMP |
associated with Heart Failure, Congestive |
RGD |
PMID:18467593 |
RGD:2300338 |
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Bad |
BCL2-associated agonist of cell death |
treatment |
IDA |
associated with Hypertension |
RGD |
PMID:21921241 |
RGD:10053646 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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Bambi |
BMP and activin membrane-bound inhibitor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
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NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
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Becn1 |
beclin 1 |
treatment |
IEP |
mRNA, protein:increased expression:heart left ventricle |
RGD |
PMID:23326547 PMID:24998254 |
RGD:11561904, RGD:11561938 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
protein:increased expression:heart: |
RGD |
PMID:23747723 |
RGD:8847123 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
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RGD |
PMID:18420946 |
RGD:9686423 |
NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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Cabin1 |
calcineurin binding protein 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11248077 |
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NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357
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Camk2d |
calcium/calmodulin-dependent protein kinase II delta |
treatment |
IEP |
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RGD |
PMID:26619200 |
RGD:401940196 |
NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
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Cav1 |
caveolin 1 |
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IEP ISO |
protein:increased expression:aorta CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17487232 PMID:17487232 |
RGD:2289120 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cav3 |
caveolin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19299911 |
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NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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Ccnd2 |
cyclin D2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15576649 |
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NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cd36 |
CD36 molecule |
treatment |
ISO |
associated with Obesity |
RGD |
PMID:26036798 |
RGD:11040928 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cd38 |
CD38 molecule |
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IMP |
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RGD |
PMID:18719074 |
RGD:2307236 |
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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Cd44 |
CD44 molecule |
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IEP |
protein:increased expression:coronary artery |
RGD |
PMID:18196276 |
RGD:2289364 |
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cebpb |
CCAAT/enhancer binding protein beta |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29266779 |
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NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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Cma1 |
chymase 1 |
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ISO |
mRNA:increased expression:heart left ventricle (mouse) |
RGD |
PMID:11828013 |
RGD:5128508 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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G |
Corin |
corin, serine peptidase |
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ISO IEP |
mRNA:increased expression:heart (rat) |
RGD |
PMID:17485366 PMID:15191894 |
RGD:1626338, RGD:1581217 |
NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503
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G |
Cox5b |
cytochrome c oxidase subunit 5B |
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IEP |
associated with Hypertension |
RGD |
PMID:16132109 |
RGD:2301377 |
NCBI chr 9:38,921,980...38,923,806
Ensembl chr 9:38,921,967...38,925,052
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G |
Cpt1b |
carnitine palmitoyltransferase 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24330405 |
|
NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
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G |
Crem |
cAMP responsive element modulator |
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ISO |
|
RGD |
PMID:15569686 |
RGD:1581291 |
NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
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G |
Cs |
citrate synthase |
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IDA |
|
RGD |
PMID:12941647 |
RGD:243048478 |
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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G |
Ctf1 |
cardiotrophin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18400235 PMID:19100119 |
|
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
IEP ISO |
mRNA:increased expression:cardiac muscle tissue (rat) mRNA:increased expression:cardiac muscle tissue (mouse) |
RGD |
PMID:19349910 PMID:19349910 |
RGD:4145630, RGD:4145630 |
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
|
IMP |
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RGD |
PMID:15939810 |
RGD:2307307 |
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18725507 PMID:23528973 |
RGD:401793732 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
treatment |
ISO IEP IDA |
associated with Hypertension CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18725507 PMID:20805442 PMID:23528973 PMID:20805442 |
RGD:7829714, RGD:401793732, RGD:7829714 |
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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G |
Cyp2c11 |
cytochrome P450, subfamily 2, polypeptide 11 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18725507 |
|
NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18725507 |
|
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Cyp4a3 |
cytochrome P450, family 4, subfamily a, polypeptide 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18725507 |
|
NCBI chr 5:129,097,571...129,115,488
Ensembl chr 5:129,097,926...129,115,463
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G |
Dll4 |
delta like canonical Notch ligand 4 |
treatment |
ISO |
|
RGD |
PMID:23188126 |
RGD:155663352 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Dmd |
dystrophin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23297412 |
|
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Dsc2 |
desmocollin 2 |
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IEP |
protein:increased expression:heart (rat) |
RGD |
PMID:26708424 |
RGD:264347602 |
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
Dsg2 |
desmoglein 2 |
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IEP |
protein:increased expression:heart (rat) |
RGD |
PMID:26708424 |
RGD:264347602 |
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
treatment |
IEP |
protein:decreased expression:heart (rat) |
RGD |
PMID:24524606 PMID:19906449 PMID:26619200 |
RGD:401959210, RGD:401959215, RGD:401940196 |
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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G |
Edn1 |
endothelin 1 |
severity |
IEP ISO |
protein:increased expression:heart ventricle, plasma (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22198280 PMID:7771559 |
RGD:8661803 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
|
RGD |
PMID:15652507 |
RGD:1580954 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Egr1 |
early growth response 1 |
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ISO |
|
RGD |
PMID:16025126 |
RGD:5131654 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Ep300 |
E1A binding protein p300 |
|
IEP |
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) |
RGD |
PMID:23211718 |
RGD:7327187 |
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Epas1 |
endothelial PAS domain protein 1 |
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ISO |
|
RGD |
PMID:14608355 |
RGD:734934 |
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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G |
Errfi1 |
ERBB receptor feedback inhibitor 1 |
treatment |
ISO IDA |
protein:increased expression:heart: |
RGD |
PMID:19204184 PMID:19204184 |
RGD:9685562, RGD:9685562 |
NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
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G |
Fads2 |
fatty acid desaturase 2 |
treatment |
IMP |
|
RGD |
PMID:24284026 |
RGD:401901245 |
NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
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G |
Fgf2 |
fibroblast growth factor 2 |
|
IEP ISO |
mRNA:increased expression:heart CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10491406 PMID:18196276 |
RGD:2289364 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fgf21 |
fibroblast growth factor 21 |
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ISO |
|
RGD |
PMID:23771152 |
RGD:10401893 |
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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G |
Fhl2 |
four and a half LIM domains 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25358972 |
|
NCBI chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192
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G |
Fndc5 |
fibronectin type III domain containing 5 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30703374 |
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NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731
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G |
Fxyd1 |
FXYD domain-containing ion transport regulator 1 |
treatment |
ISO |
|
RGD |
PMID:24218169 |
RGD:9685471 |
NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278
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G |
Gas6 |
growth arrest specific 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19564549 |
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NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
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G |
Gata4 |
GATA binding protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16259952 PMID:18252717 |
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Gdf1 |
growth differentiation factor 1 |
exacerbates |
ISO |
|
RGD |
PMID:24275554 |
RGD:11252017 |
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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G |
Glrx3 |
glutaredoxin 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16809552 |
|
NCBI chr 1:192,241,707...192,272,012
Ensembl chr 1:192,241,701...192,272,010
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G |
Gnaq |
G protein subunit alpha q |
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ISO |
|
RGD |
PMID:9811897 |
RGD:1598475 |
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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G |
Gpx3 |
glutathione peroxidase 3 |
treatment |
IEP |
|
RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:heart left ventricle (mouse) |
CTD RGD |
PMID:11901213 PMID:23969695 PMID:25982117 |
RGD:13792712, RGD:11052788 |
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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G |
Grk3 |
G protein-coupled receptor kinase 3 |
|
IEP |
mRNA:increased expression:heart left ventricle (rat) |
RGD |
PMID:20677219 |
RGD:5685025 |
NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262
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G |
Gsk3b |
glycogen synthase kinase 3 beta |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17901358 PMID:19318234 |
RGD:10045585 |
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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G |
Gsn |
gelsolin |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30240538 PMID:30240538 |
RGD:329333015 |
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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G |
Gsr |
glutathione-disulfide reductase |
treatment |
IEP |
|
RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Gstm2 |
glutathione S-transferase mu 2 |
treatment |
IEP |
|
RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
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G |
Gstm3 |
glutathione S-transferase mu 3 |
treatment |
IEP |
|
RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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G |
H19 |
H19 imprinted maternally expressed transcript |
|
ISO |
RNA:decrased expression:blood serum (human) RNA:increased expression:heart left ventricle (mouse) RNA:increased expression:heart (mouse) |
RGD |
PMID:35139769 PMID:27317124 PMID:27084844 |
RGD:155260312, RGD:243048444, RGD:155882575 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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G |
Hamp |
hepcidin antimicrobial peptide |
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IEP |
|
RGD |
PMID:24424338 |
RGD:11041632 |
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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G |
Hand1 |
heart and neural crest derivatives expressed 1 |
|
IEP ISO |
mRNA:decreased expression:heart ventricle mRNA:decreased expression:heart left ventricle |
RGD |
PMID:12359233 PMID:12359233 |
RGD:727442, RGD:727442 |
NCBI chr10:42,006,646...42,009,213
Ensembl chr10:42,006,651...42,009,213
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G |
Hand2 |
heart and neural crest derivatives expressed 2 |
|
IEP ISO |
mRNA:altered expression:cardiac ventricle CTD Direct Evidence: marker/mechanism mRNA:decreased expression:heart right ventricle |
CTD RGD |
PMID:29394407 PMID:12359233 PMID:12359233 |
RGD:727442, RGD:727442 |
NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891
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G |
Has1 |
hyaluronan synthase 1 |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:18196276 |
RGD:2289364 |
NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
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G |
Has2 |
hyaluronan synthase 2 |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:18196276 |
RGD:2289364 |
NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
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G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
protein:increased activity:heart: CTD Direct Evidence: marker/mechanism protein:increased acetylation:heart: |
CTD RGD |
PMID:18625706 PMID:18849323 PMID:24526703 |
RGD:2306446, RGD:9590211 |
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hdac8 |
histone deacetylase 8 |
treatment |
ISO IEP |
associated with Hypertension |
RGD |
PMID:25504627 PMID:23868068 |
RGD:13208811, RGD:9681716 |
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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G |
Hes1 |
hes family bHLH transcription factor 1 |
treatment |
ISO |
|
RGD |
PMID:23188126 |
RGD:155663352 |
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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G |
Hfe |
homeostatic iron regulator |
|
ISO |
associated with hemochromatosis |
RGD |
PMID:28720890 |
RGD:14746969 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15942707 PMID:12665660 |
RGD:401784499 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgb1 |
high mobility group box 1 |
treatment |
ISO |
|
RGD |
PMID:23708738 |
RGD:10402070 |
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15226216 |
|
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hrc |
histidine rich calcium binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17030629 |
|
NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
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G |
Hsf1 |
heat shock transcription factor 1 |
treatment |
IDA |
|
RGD |
PMID:25804640 |
RGD:10402399 |
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Htr2a |
5-hydroxytryptamine receptor 2A |
|
ISO |
protein:increased expression:heart |
RGD |
PMID:20005206 |
RGD:401938624 |
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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G |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15302781 PMID:19023134 PMID:20374255 |
|
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27469509 |
|
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10547078 |
|
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
|
RGD |
PMID:18801929 |
RGD:2311509 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Il18 |
interleukin 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18660453 |
|
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
|
IEP ISO |
mRNA, protein:increased expression:heart CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15302781 PMID:15542404 |
RGD:1581939 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
severity |
ISO |
|
RGD |
PMID:17492053 |
RGD:40813740 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il33 |
interleukin 33 |
treatment |
IDA ISO |
protein:increased expression:cardiomyocyte |
RGD |
PMID:17492053 PMID:17492053 |
RGD:40813740, RGD:40813740 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il6 |
interleukin 6 |
|
IEP |
mRNA, protein:increased expression:heart |
RGD |
PMID:15542404 |
RGD:1581939 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
|
ISO |
|
RGD |
PMID:10219240 |
RGD:737751 |
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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G |
Irf4 |
interferon regulatory factor 4 |
|
ISO |
|
RGD |
PMID:23589561 |
RGD:11530060 |
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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G |
Irx4 |
iroquois homeobox 4 |
|
ISO |
|
RGD |
PMID:11238910 |
RGD:1582289 |
NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
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G |
Itga3 |
integrin subunit alpha 3 |
|
IEP |
protein:increased expression:cardiac myocyte (rat) |
RGD |
PMID:1835909 |
RGD:2325829 |
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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G |
Itpr2 |
inositol 1,4,5-trisphosphate receptor, type 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20616315 |
|
NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164
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G |
Kat8 |
lysine acetyltransferase 8 |
treatment |
ISO |
mRNA, protein:decreased expression:heart (mouse) human gene in a mouse model |
RGD |
PMID:24802406 PMID:24802406 |
RGD:9586036, RGD:9586036 |
NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
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G |
Kcnd3 |
potassium voltage-gated channel subfamily D member 3 |
|
ISO |
protein:decreased expression:heart: |
RGD |
PMID:23747723 |
RGD:8847123 |
NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
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G |
Kdm4a |
lysine demethylase 4A |
|
ISO |
|
RGD |
PMID:21555854 |
RGD:9587422 |
NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
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G |
Kl |
Klotho |
treatment |
ISO |
|
RGD |
PMID:23225045 |
RGD:10403062 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Klf5 |
KLF transcription factor 5 |
|
ISO |
|
RGD |
PMID:15098654 |
RGD:1304323 |
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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G |
Klk1 |
kallikrein 1 |
|
ISO |
|
RGD |
PMID:17137568 |
RGD:1641797 |
NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
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G |
Klk1c12 |
kallikrein 1-related peptidase C12 |
|
ISO |
|
RGD |
PMID:17137568 |
RGD:1641797 |
NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
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G |
Lif |
LIF, interleukin 6 family cytokine |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15226216 |
|
NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
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G |
Loxl1 |
lysyl oxidase-like 1 |
|
IEP |
|
RGD |
PMID:17378376 |
RGD:7394734 |
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
|
ISO |
mRNA:increased expression:heart (mouse) |
RGD |
PMID:29510080 |
RGD:213230163 |
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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G |
Lyn |
LYN proto-oncogene, Src family tyrosine kinase |
|
IEP |
|
RGD |
PMID:17039281 |
RGD:2303711 |
NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868
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|
G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
treatment |
IEP |
|
RGD |
PMID:24998254 |
RGD:11561938 |
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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G |
Map2k5 |
mitogen activated protein kinase kinase 5 |
|
ISO |
|
RGD |
PMID:11387209 |
RGD:1580866 |
NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
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G |
Map2k6 |
mitogen-activated protein kinase kinase 6 |
|
ISO |
|
RGD |
PMID:15722372 PMID:12750397 |
RGD:1582275, RGD:13782145 |
NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
treatment ameliorates |
ISO IEP |
protein:increased phosphorylation:heart (mouse) mRNA:increased expression:wall of left ventricle (rat) |
RGD |
PMID:32971071 PMID:28821620 PMID:34733837 PMID:26891723 PMID:35490166 PMID:30407523 PMID:27956576 PMID:30854566 PMID:31885808 More...
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RGD:155791643, RGD:155804266, RGD:155791674, RGD:11555743, RGD:155791668, RGD:155791650, RGD:155791649, RGD:155791647, RGD:155791644 |
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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G |
Mapk1 |
mitogen activated protein kinase 1 |
|
IDA |
|
RGD |
PMID:15607907 |
RGD:1582283 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:12668503 |
RGD:1582316 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Meis1 |
Meis homeobox 1 |
|
ISO |
mRNA, protein:decreased expression:heart (mouse) |
RGD |
PMID:26597775 |
RGD:11554891 |
NCBI chr14:93,155,426...93,294,373
Ensembl chr14:93,155,419...93,294,265
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
IEP |
protein:increased expression:ventricle (rat) |
RGD |
PMID:10489112 |
RGD:2317547 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mfn1 |
mitofusin 1 |
treatment |
ISO |
|
RGD |
PMID:28503736 |
RGD:12910714 |
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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G |
Mfn2 |
mitofusin 2 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism associated with Hypertension:protein:decreased expression:heart (rat) mRNA, protein:decreased expression:heart (mouse) |
CTD RGD |
PMID:17499311 PMID:27085127 PMID:27565029 PMID:27847271 PMID:28503736 |
RGD:12910835, RGD:12910768, RGD:12910764, RGD:12910714 |
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mir125b2 |
microRNA 125b-2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29122578 |
|
NCBI chr11:16,245,620...16,245,707
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G |
Mir145 |
microRNA 145 |
treatment |
ISO |
miRNA:increased expression:blood serum (human) |
RGD |
PMID:35139769 PMID:35139769 |
RGD:155260312, RGD:155260312 |
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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G |
Mir208a |
microRNA 208a |
treatment |
IMP |
|
RGD |
PMID:33605072 |
RGD:213230164 |
NCBI chr15:28,425,570...28,425,652
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G |
Mir21 |
microRNA 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism RNA:increased expression:heart: |
CTD RGD |
PMID:17525252 PMID:32040481 |
RGD:41404711 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir223 |
microRNA 223 |
|
ISO |
|
RGD |
PMID:27226563 |
RGD:329322878 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Mir23a |
microRNA 23a |
|
ISO |
|
RGD |
PMID:22084234 |
RGD:155882559 |
NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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G |
Mir30a |
microRNA 30a |
|
IEP |
RNA:decreased expression:heart left ventricle |
RGD |
PMID:23326547 |
RGD:11561904 |
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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G |
Mir30b |
microRNA 30b |
|
IEP |
RNA:decreased expression:heart left ventricle |
RGD |
PMID:23326547 |
RGD:11561904 |
NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
IEP |
|
RGD |
PMID:16327176 |
RGD:1582627 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
IEP |
mRNA:increased expression:heart left ventricle |
RGD |
PMID:17207419 |
RGD:1642047 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mt2A |
metallothionein 2A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11309296 |
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NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
IMP |
associated with Aortic Valve Stenosis |
RGD |
PMID:20861467 |
RGD:10003169 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Mybpc3 |
myosin binding protein C3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22189562 |
|
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
treatment |
IDA |
|
RGD |
PMID:22000973 |
RGD:7240700 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Myh6 |
myosin heavy chain 6 |
|
IEP |
|
RGD |
PMID:1703406 |
RGD:12798563 |
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
|
IEP ISO |
mRNA, protein:increased expression:heart (mouse) |
RGD |
PMID:1703406 PMID:26597775 |
RGD:12798563, RGD:11554891 |
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Myocd |
myocardin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16556869 |
|
NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
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G |
Ndufs3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
|
IEP |
|
RGD |
PMID:24388463 |
RGD:7800726 |
NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
IEP |
|
RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Nkx2-5 |
NK2 homeobox 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28973413 |
|
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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G |
Nme1 |
NME/NM23 nucleoside diphosphate kinase 1 |
|
IEP |
protein:increased expression:heart, plasma membrane (rat) |
RGD |
PMID:14559858 |
RGD:5132887 |
NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
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G |
Nos1 |
nitric oxide synthase 1 |
|
IEP |
|
RGD |
PMID:17673519 |
RGD:1642136 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nos3 |
nitric oxide synthase 3 |
treatment |
IEP ISO |
protein:increased expression:aorta CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:11504159 PMID:12224825 PMID:16844920 PMID:17487232 PMID:17487232 PMID:29331788 More...
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RGD:2289120, RGD:13504707 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Notch1 |
notch receptor 1 |
treatment |
ISO |
|
RGD |
PMID:23188126 |
RGD:155663352 |
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Nppa |
natriuretic peptide A |
treatment ameliorates |
IDA ISO |
mRNA, protein:increased expression:heart (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12224825 PMID:18056528 PMID:20886221 PMID:21242511 PMID:21297083 PMID:22083722 PMID:23905381 PMID:24275554 PMID:23188126 PMID:26597775 More...
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RGD:7297051, RGD:11252017, RGD:155663352, RGD:11554891 |
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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G |
Nppb |
natriuretic peptide B |
ameliorates treatment |
IEP ISO IDA |
associated with Hypertension;mRNA:increased expression:heart mRNA:decreased expression:heart (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15942707 PMID:15969258 PMID:18056528 PMID:21565836 PMID:16762434 PMID:21273244 PMID:24275554 PMID:23905381 More...
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RGD:1642206, RGD:401940178, RGD:11252017, RGD:7297051 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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G |
Npr1 |
natriuretic peptide receptor 1 |
|
ISO |
associated with Hypertension CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20881240 PMID:9405681 |
RGD:737701 |
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
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G |
Ogt |
O-linked N-acetylglucosamine (GlcNAc) transferase |
|
IEP |
protein:increased expression:heart left ventricle (rat) |
RGD |
PMID:22128088 |
RGD:9590202 |
NCBI chr X:66,771,278...66,816,148
Ensembl chr X:66,771,349...66,816,146
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|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
treatment |
ISO IEP |
associated with Hypertension |
RGD |
PMID:22406748 PMID:28503736 PMID:24388463 |
RGD:7800697, RGD:12910714, RGD:7800726 |
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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G |
Pak1 |
p21 (RAC1) activated kinase 1 |
|
ISO |
|
RGD |
PMID:22082674 |
RGD:11533929 |
NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
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|
G |
Parp2 |
poly (ADP-ribose) polymerase 2 |
treatment |
IEP |
|
RGD |
PMID:25281201 |
RGD:13514043 |
NCBI chr15:24,034,069...24,044,340
Ensembl chr15:24,034,106...24,044,338
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G |
Pde5a |
phosphodiesterase 5A |
treatment |
ISO |
|
RGD |
PMID:15665834 |
RGD:1581008 |
NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
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G |
Pde9a |
phosphodiesterase 9A |
treatment |
ISO IMP |
|
RGD |
PMID:25799991 PMID:33464954 PMID:28649129 |
RGD:240550109, RGD:242905185, RGD:241060360 |
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
IEP |
associated with Hypertension;protein:increased expression:heart |
RGD |
PMID:11973598 |
RGD:2292215 |
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12963636 |
|
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Pin1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
ISO |
|
RGD |
PMID:23487407 |
RGD:8693424 |
NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
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G |
Plau |
plasminogen activator, urokinase |
treatment |
IDA |
|
RGD |
PMID:22160250 |
RGD:7241558 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Pld1 |
phospholipase D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15988127 |
|
NCBI chr 2:110,849,205...111,047,304
Ensembl chr 2:110,893,608...111,047,692
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G |
Pld2 |
phospholipase D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15988127 |
|
NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808
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|
G |
Plpp3 |
phospholipid phosphatase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28982073 |
|
NCBI chr 5:119,927,085...120,002,206
Ensembl chr 5:119,927,085...120,002,205
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1965992 PMID:2821097 PMID:6088243 PMID:8279378 PMID:8381257 PMID:19039989 More...
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|
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Postn |
periostin |
severity |
IEP |
mRNA,protein:increased expression:left ventricle: |
RGD |
PMID:16414453 |
RGD:10040951 |
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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|
G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22198280 |
|
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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|
G |
Ppard |
peroxisome proliferator-activated receptor delta |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20075336 PMID:15728586 |
RGD:1580656 |
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
IEP ISO |
protein:increased expression:myocardium of left ventricle (rat) |
RGD |
PMID:22105890 PMID:14726475 |
RGD:7242192, RGD:10053662 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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|
G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
|
RGD |
PMID:12515860 PMID:21273244 |
RGD:734902, RGD:401940178 |
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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|
G |
Prkaa2 |
protein kinase AMP-activated catalytic subunit alpha 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18812163 |
|
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
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G |
Prkca |
protein kinase C, alpha |
|
IAGP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21565836 PMID:15792354 |
RGD:1581271 |
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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|
G |
Prkcb |
protein kinase C, beta |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17121852 PMID:12887134 |
RGD:1581276 |
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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|
G |
Prkcd |
protein kinase C, delta |
|
IEP IAGP |
associated with Hypertension |
RGD |
PMID:15792354 PMID:15792354 |
RGD:1581271, RGD:1581271 |
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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G |
Prkce |
protein kinase C, epsilon |
|
IAGP |
|
RGD |
PMID:15792354 |
RGD:1581271 |
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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G |
Prkcz |
protein kinase C, zeta |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27094369 |
|
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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|
G |
Prkd1 |
protein kinase D1 |
ameliorates |
ISO IEP |
protein:increased activity:heart (mouse) human gene in a mouse model protein:increased phosphorylation:heart left ventricle (rat) |
RGD |
PMID:24161911 PMID:36172952 PMID:18287012 PMID:16648482 PMID:16648482 |
RGD:243048462, RGD:329322877, RGD:307436945, RGD:243065275, RGD:243065275 |
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
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G |
Pten |
phosphatase and tensin homolog |
|
IEP ISO |
|
RGD |
PMID:16188065 PMID:11448956 |
RGD:2292549, RGD:1581282 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Pygm |
glycogen phosphorylase, muscle associated |
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IEP |
mRNA:increased expression:cardiocyte |
RGD |
PMID:14618266 |
RGD:1599987 |
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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G |
Rac1 |
Rac family small GTPase 1 |
|
ISO |
|
RGD |
PMID:16698001 PMID:16651530 |
RGD:1581293, RGD:1581294 |
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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G |
Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
DNA:point mutation:exon:p.D486N (mouse) |
RGD |
PMID:22826437 |
RGD:12910709 |
NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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G |
Ramp2 |
receptor activity modifying protein 2 |
|
IEP |
|
RGD |
PMID:15680493 |
RGD:1642686 |
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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G |
Rapgef3 |
Rap guanine nucleotide exchange factor 3 |
susceptibility |
IEP ISO |
protein:increased expression:left ventricle myocardium (rat) |
RGD |
PMID:18323524 PMID:25411381 |
RGD:9835356, RGD:9850089 |
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
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RGD |
PMID:18420946 |
RGD:9686423 |
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Rbck1 |
RANBP2-type and C3HC4-type zinc finger containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121852 |
|
NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005
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G |
Rbm10 |
RNA binding motif protein 10 |
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IEP |
protein:decreased expression:heart |
RGD |
PMID:30257214 |
RGD:151667449 |
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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G |
Rbp4 |
retinol binding protein 4 |
ameliorates |
ISO |
|
RGD |
PMID:25911613 |
RGD:329845871 |
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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G |
Rcan1 |
regulator of calcineurin 1 |
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IDA |
|
RGD |
PMID:12124198 |
RGD:625605 |
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
treatment |
IDA |
|
RGD |
PMID:15728586 PMID:15749748 |
RGD:1580656, RGD:1581122 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Ren |
renin |
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ISO |
mRNA:increased expression:heart, kidney (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20429690 PMID:20811386 PMID:15367398 |
RGD:6771378 |
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
Rhoa |
ras homolog family member A |
|
IEP ISO |
associated with Hypertension;protein:increased activation:heart protein:increased expression:cardiac muscle cell |
RGD |
PMID:17184496 PMID:17316608 |
RGD:1642810, RGD:1642807 |
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Rock2 |
Rho-associated coiled-coil containing protein kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
|
NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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G |
Rpph1 |
ribonuclease P RNA component H1 |
|
ISO |
RNA:increased expression:heart left ventricle (mouse) |
RGD |
PMID:27317124 |
RGD:243048444 |
NCBI chr15:24,033,679...24,033,935
Ensembl chr15:24,033,662...24,033,959
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
|
IEP |
protein:increased threonine phosphorylation:heart left ventricle |
RGD |
PMID:16540832 |
RGD:1642998 |
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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G |
Rrad |
RRAD, Ras related glycolysis inhibitor and calcium channel regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18056528 PMID:18056528 |
RGD:2311701 |
NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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G |
S100a1 |
S100 calcium binding protein A1 |
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IDA |
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RGD |
PMID:12619862 |
RGD:735233 |
NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
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G |
S1pr1 |
sphingosine-1-phosphate receptor 1 |
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IDA |
|
RGD |
PMID:11549339 |
RGD:1357201 |
NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
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G |
Shc1 |
SHC adaptor protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19168439 |
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NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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G |
Sirt1 |
sirtuin 1 |
treatment |
IEP |
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RGD |
PMID:25281201 |
RGD:13514043 |
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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G |
Sirt4 |
sirtuin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27099261 |
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NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
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G |
Sirt6 |
sirtuin 6 |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:22335191 PMID:35798905 PMID:22335191 |
RGD:9586060 |
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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G |
Slc25a4 |
solute carrier family 25 member 4 |
treatment |
IMP |
associated with Hypertension |
RGD |
PMID:17210842 |
RGD:9681469 |
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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G |
Slc2a4 |
solute carrier family 2 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22221582 |
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NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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G |
Slc4a1 |
solute carrier family 4 member 1 (Diego blood group) |
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ISO |
associated with Anemia, Hemolytic |
RGD |
PMID:17056673 |
RGD:10450496 |
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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G |
Slc8a1 |
solute carrier family 8 member A1 |
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ISO IDA |
protein:increased serine phosphorylation:heart associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell |
RGD |
PMID:17446477 PMID:15615841 |
RGD:1642725, RGD:1642713 |
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19293248 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sox4 |
SRY-box transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:15534078 |
RGD:1581339 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18194989 |
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NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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G |
Srd5a1 |
steroid 5 alpha-reductase 1 |
|
ISO |
mRNA:increased expression:heart left ventricle (human) |
RGD |
PMID:12374776 |
RGD:4891966 |
NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
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G |
Srf |
serum response factor |
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ISO |
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RGD |
PMID:12909581 |
RGD:1581425 |
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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G |
Sri |
sorcin |
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ISO |
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RGD |
PMID:11485922 |
RGD:7327201 |
NCBI chr 4:25,973,493...25,997,879
Ensembl chr 4:25,966,750...25,998,077
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G |
Srsf1 |
serine and arginine rich splicing factor 1 |
treatment |
IEP |
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RGD |
PMID:26619200 |
RGD:401940196 |
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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G |
Star |
steroidogenic acute regulatory protein |
|
IEP |
mRNA:increased expression:cardiac muscle tissue (rat) |
RGD |
PMID:19349910 |
RGD:4145630 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10618415 PMID:19299911 PMID:24448315 |
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NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
protein:decreased expression:heart |
RGD |
PMID:17098823 |
RGD:1601391 |
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Stox1 |
storkhead box 1 |
|
ISO |
associated with Pre-Eclampsia; human gene fetally expressed in a mouse model |
RGD |
PMID:26758611 |
RGD:11553897 |
NCBI chr20:30,598,284...30,666,371
Ensembl chr20:30,598,168...30,666,939
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G |
Tbx20 |
T-box transcription factor 20 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
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NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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IEP |
mRNA, protein:increased expression:heart |
RGD |
PMID:15542404 |
RGD:1581939 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
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IEP |
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RGD |
PMID:10067796 |
RGD:2290471 |
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15302781 PMID:17337591 PMID:18034274 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnnt2 |
troponin T2, cardiac type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17556660 |
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NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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G |
Tomm70 |
translocase of outer mitochondrial membrane 70 |
|
IEP ISO |
protein:decreased expression:left ventricle myocardium protein:decreased expression:heart |
RGD |
PMID:25022898 PMID:25022898 |
RGD:13464131, RGD:13464131 |
NCBI chr11:43,378,719...43,417,166
Ensembl chr11:43,377,216...43,417,202
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G |
Trim44 |
tripartite motif-containing 44 |
ameliorates |
ISO IMP IEP |
mRNA:increased expression:heart mRNA,protein:increased expression:heart |
RGD |
PMID:35855640 PMID:35855640 PMID:35855640 |
RGD:329961579, RGD:329961579, RGD:329961579 |
NCBI chr 3:88,593,619...88,729,085
Ensembl chr 3:88,592,719...88,729,188
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G |
Trim63 |
tripartite motif containing 63 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19168726 |
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NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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G |
Trpc1 |
transient receptor potential cation channel, subfamily C, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17174323 |
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NCBI chr 8:96,263,322...96,314,220
Ensembl chr 8:96,263,329...96,314,276
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
mRNA:increased expression:heart |
RGD |
PMID:23212367 |
RGD:7247443 |
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
|
IEP |
mRNA:increased expression:heart |
RGD |
PMID:16966582 |
RGD:10003036 |
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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G |
Ubtf |
upstream binding transcription factor |
|
ISO |
|
RGD |
PMID:12885411 |
RGD:1580791 |
NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
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G |
Ucp2 |
uncoupling protein 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25703824 |
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NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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G |
Ugcg |
UDP-glucose ceramide glucosyltransferase |
treatment |
IEP |
|
RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:12665660 |
RGD:401784499 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vldlr |
very low density lipoprotein receptor |
|
IEP |
associated with Hypertension; mRNA:decreased expression:heart ventricle |
RGD |
PMID:8603509 |
RGD:1625579 |
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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G |
Yy1 |
YY1 transcription factor |
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IDA |
|
RGD |
PMID:15567155 |
RGD:1580832 |
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
ClinVar Annotator: match by term: Carvajal syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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G |
Dsp |
desmoplakin |
|
ISO ISS |
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:605676 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21193976 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: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: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: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: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:31983221 PMID:32005173 PMID:32013205 PMID:32041989 PMID:32102357 PMID:32114801 PMID:32233023 PMID:32268277 PMID:32277046 PMID:32356610 PMID:32372669 PMID:32410525 PMID:32516855 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: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: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:38691546 More...
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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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 chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040
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G |
Actn2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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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 chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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G |
Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
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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 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
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G |
Casq2 |
calsequestrin 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, 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: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 More...
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NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
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G |
Dmpk |
DM1 protein kinase |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
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|
NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
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G |
Dsg2 |
desmoglein 2 |
|
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:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 PMID:29038103 PMID:35087879 More...
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NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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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 chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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G |
Lama4 |
laminin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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G |
Lmna |
lamin A/C |
|
ISO |
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 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Mab21l3 |
mab-21 like 3 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:189,248,895...189,271,652
Ensembl chr 2:189,248,895...189,271,652
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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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 |
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NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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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 chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
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G |
Ryr2 |
ryanodine receptor 2 |
|
ISO ISS |
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 OMIM:604772 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 MouseDO |
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: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:32165824 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:34730774 PMID:34873534 PMID:34930847 PMID:34949103 PMID:35026164 PMID:35087879 PMID:35276540 PMID:35352813 PMID:35353122 PMID:35439358 PMID:35446340 PMID:35470680 PMID:35668055 PMID:35819174 PMID:35931078 PMID:35932045 PMID:36070930 PMID:36082968 PMID:36138163 PMID:36203036 PMID:36269083 PMID:36291626 PMID:36310724 PMID:36621286 PMID:36864708 PMID:36970376 PMID:37328711 PMID:37347419 PMID:37477868 PMID:37492947 PMID:37589201 PMID:37850595 PMID:37904629 PMID:38296580 PMID:38540378 More...
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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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 chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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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 |
|
NCBI chr 2:189,298,836...189,359,902
Ensembl chr 2:189,298,832...189,358,792
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G |
Tnni3k |
TNNI3 interacting kinase |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
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G |
Tpm1 |
tropomyosin 1 |
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ISO |
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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G |
Trdn |
triadin |
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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: 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 More...
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NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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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: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
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NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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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 |
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NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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G |
Flt4 |
Fms related receptor tyrosine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 |
OMIM ClinVar |
PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 PMID:30582441 More...
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NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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G |
Abcc9 |
ATP binding cassette subfamily C member 9 |
susceptibility |
ISO |
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 RGD |
PMID:12166651 PMID:20474083 PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28341588 PMID:28492532 PMID:31983221 PMID:34281161 PMID:15034580 More...
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RGD:1300328 |
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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G |
Abcc9_v1 |
ATP binding cassette subfamily C member 9, variant 1 |
susceptibility |
ISO |
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RGD |
PMID:15034580 |
RGD:1300328 |
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G |
Abra |
actin-binding Rho activating protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16243910 |
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NCBI chr 7:72,970,187...72,974,255
Ensembl chr 7:72,970,186...72,974,255
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G |
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 chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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G |
Ace |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:insertion/deletion:intron |
RGD |
PMID:9270088 |
RGD:1566491 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
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 chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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G |
Actc1 |
actin, alpha, cardiac muscle 1 |
susceptibility |
ISO |
DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) 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: 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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
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:9563954 More...
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RGD:1559158 |
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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G |
Actn2 |
actinin alpha 2 |
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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: 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 chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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G |
Adrb1 |
adrenoceptor beta 1 |
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IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9554809 PMID:18287209 |
RGD:5129132 |
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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G |
Adrb2 |
adrenoceptor beta 2 |
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IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11986409 PMID:18287209 |
RGD:5129132 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Aff4 |
ALF transcription elongation factor 4 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
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G |
Agt |
angiotensinogen |
no_association treatment |
ISO IEP |
DNA:polymorphisms: :p.T174M, p.M235T (human) |
RGD |
PMID:9270088 PMID:22120037 |
RGD:1566491, RGD:8549486 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
treatment |
IMP IEP |
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RGD |
PMID:20886512 PMID:22120037 |
RGD:5129198, RGD:8549486 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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ISO IEP |
mRNA, protein:increased expression:heart left ventricle |
RGD |
PMID:9815151 PMID:22120037 |
RGD:6903900, RGD:8549486 |
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
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 chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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G |
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 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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G |
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 chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
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 chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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G |
Ankrd1 |
ankyrin repeat domain 1 |
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ISO |
DNA:missense mutations:multiple (human) 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 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 RGD |
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 PMID:19525294 More...
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RGD:5133277 |
NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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G |
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 chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963
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G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
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RGD |
PMID:16714771 |
RGD:1601240 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
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 chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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G |
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 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24358288 |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
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 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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G |
Axin2 |
axin 2 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung |
CTD RGD |
PMID:29394407 PMID:33092439 |
RGD:151356921 |
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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G |
Bag3 |
BAG cochaperone 3 |
|
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: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 More...
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NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:23980359 PMID:26004897 |
RGD:10054117, RGD:13782348 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bckdk |
branched chain ketoacid dehydrogenase kinase |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,515,335...182,520,007
Ensembl chr 1:182,515,327...182,536,633
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G |
Bcl2 |
BCL2, apoptosis regulator |
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IEP |
|
RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bcl2l1 |
Bcl2-like 1 |
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IEP |
|
RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
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G |
Bola2 |
bolA family member 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,291,967...181,292,833
Ensembl chr 1:181,291,398...181,292,676
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
C1h16orf54 |
similar to human chromosome 16 open reading frame 54 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
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G |
C1h16orf92 |
similar to human chromosome 16 open reading frame 92 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,434,524...181,441,000
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G |
C9h2orf49 |
similar to human chromosome 2 open reading frame 49 |
|
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: 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 chr 9:45,371,396...45,382,123
Ensembl chr 9:45,371,430...45,382,120
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
susceptibility |
ISO |
DNA:SNPs:introns: |
RGD |
PMID:29495422 |
RGD:13515053 |
NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944
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G |
Cacng8 |
calcium voltage-gated channel auxiliary subunit gamma 8 |
|
ISO |
mRNA,protein:decreased expression:left ventricule: |
RGD |
PMID:26710323 |
RGD:11353143 |
NCBI chr 1:65,755,334...65,775,567
Ensembl chr 1:65,755,334...65,779,089
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G |
Calr3 |
calreticulin 3 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29988065 |
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NCBI chr16:17,396,064...17,423,166
Ensembl chr16:17,396,247...17,423,015
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G |
Cap2 |
cyclase associated actin cytoskeleton regulatory protein 2 |
|
ISS |
|
MouseDO |
|
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NCBI chr17:18,054,234...18,203,453
Ensembl chr17:18,054,431...18,203,373
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G |
Casp3 |
caspase 3 |
|
IEP |
|
RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp8 |
caspase 8 |
|
IEP |
|
RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Casp9 |
caspase 9 |
|
IEP |
|
RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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G |
Casq2 |
calsequestrin 2 |
|
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 chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
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G |
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 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
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G |
Cat |
catalase |
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ISO |
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RGD |
PMID:10652196 |
RGD:1581150 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
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 chr16:46,315,745...46,337,050
Ensembl chr16:46,315,745...46,337,021
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G |
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 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Cd27 |
CD27 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12031769 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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G |
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 1:181,809,399...181,815,269
Ensembl chr 1:181,809,406...181,813,448
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G |
Cd36 |
CD36 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10981864 |
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NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:9495297 |
RGD:13702889 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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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 chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715
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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 chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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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 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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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 chr12:8,737,198...8,805,026
Ensembl chr12:8,737,262...8,804,177
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G |
Cenpf |
centromere protein F |
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ISS |
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MouseDO |
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NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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G |
Cep85l |
centrosomal protein 85-like |
|
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:16897780 PMID:17655857 PMID:18056057 PMID:19139388 PMID:21167350 PMID:21282613 PMID:21332051 PMID:22137083 PMID:22427649 PMID:22707725 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 chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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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 1:182,197,171...182,216,936
Ensembl chr 1:182,192,947...182,202,338
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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 chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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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 chr16:46,086,104...46,135,194
Ensembl chr16:46,086,111...46,125,933
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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 chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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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: 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: Primary dilated cardiomyopathy |
ClinVar |
PMID:23408450 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 |
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NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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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 chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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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 chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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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 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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G |
Cox7a1 |
cytochrome c oxidase subunit 7A1 |
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ISS |
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MouseDO |
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NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151
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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 chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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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 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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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 chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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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 chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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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 chr 8:119,704,712...119,717,767
Ensembl chr 8:119,704,713...119,718,183
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G |
Csrp3 |
cysteine and glycine rich protein 3 |
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ISO |
DNA:missense mutation:cds:p.W4R (human) ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
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 PMID:12507422 PMID:9637704 More...
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RGD:734841, RGD:734837 |
NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
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G |
Ctf1 |
cardiotrophin 1 |
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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: 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 RGD |
PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:27149842 PMID:28492532 PMID:34228484 PMID:11058912 More...
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RGD:1626410 |
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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G |
Ctnna3 |
catenin alpha 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29394407 PMID:20376467 |
RGD:13524857 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Ctsl |
cathepsin L |
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ISS |
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MouseDO |
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NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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IEP |
mRNA:increased expression:left ventricle myocardium |
RGD |
PMID:20868517 |
RGD:5134996 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
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IDA |
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RGD |
PMID:15322218 |
RGD:1598502 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
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ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Dag1 |
dystroglycan 1 |
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ISS |
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MouseDO |
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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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 1:181,877,440...181,880,833
Ensembl chr 1:181,877,437...181,880,839
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G |
Des |
desmin |
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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: Primary dilated cardiomyopathy DNA:mutation:cds:c.679C>T(p.R227C)(human) protein:altered expression:cardiomyocyte: |
ClinVar RGD |
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:33500567 PMID:33823640 PMID:33874732 PMID:34426522 PMID:10591032 PMID:28171858 PMID:29556622 More...
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RGD:13525010, RGD:13592594, RGD:13542087 |
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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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 chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISS |
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MouseDO |
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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G |
Dmd |
dystrophin |
severity |
ISO IMP |
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: 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 CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:myocardium |
ClinVar CTD RGD |
PMID:11496434 PMID:12359139 PMID:16770791 PMID:19409785 PMID:19937601 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 PMID:12359139 PMID:19194174 PMID:25310701 PMID:20373002 More...
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RGD:1580858, RGD:13702900, RGD:12880034, RGD:6771365 |
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Dmdem1Ang |
dystrophin; TALEN-induced mutant1, Ang |
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IMP |
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RGD |
PMID:25310701 |
RGD:12880034 |
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G |
Dnaaf3 |
dynein, axonemal, assembly factor 3 |
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ISO |
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 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Dnm1l |
dynamin 1-like |
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ISS |
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MouseDO |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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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 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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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 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917
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G |
Dpp6 |
dipeptidyl peptidase like 6 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
|
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NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
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G |
Dsc2 |
desmocollin 2 |
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ISO IEP |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy protein:increased expression:heart (rat) |
ClinVar RGD |
PMID:205460 PMID:1245073 PMID:20400443 PMID:23514727 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28471438 PMID:28492532 PMID:29178656 PMID:33784018 PMID:35297182 PMID:26708424 More...
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RGD:264347602 |
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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G |
Dsg2 |
desmoglein 2 |
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ISO IEP |
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 DNA:polymorphism:cds:c.209G > A (p.V55M)(human) 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 protein:increased expression:heart (rat) |
ClinVar RGD |
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 PMID:21455723 PMID:18678517 PMID:26708424 More...
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RGD:401851067, RGD:11064672, RGD:264347602 |
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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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: 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: 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 Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
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: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:26230511 PMID:26265630 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:29178656 PMID:29633331 PMID:29915098 PMID:30012837 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:34137518 PMID:34194005 PMID:34290054 PMID:34317553 PMID:34352074 PMID:34815391 PMID:35083019 PMID:35151254 PMID:35581137 PMID:36768812 PMID:11063735 More...
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RGD:1580891 |
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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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: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
severity |
IMP |
rat cDNA in mouse model |
RGD |
PMID:27056896 |
RGD:401959209 |
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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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 chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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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 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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G |
Edn1 |
endothelin 1 |
severity |
ISO |
protein:increased expression:aorta, plasma (human) |
RGD |
PMID:10026353 |
RGD:8661756 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Egfr |
epidermal growth factor receptor |
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IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18599591 PMID:22646904 |
RGD:7204501 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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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 chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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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 chr10:49,632,308...49,655,614
Ensembl chr10:49,632,378...49,655,614
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G |
Emd |
emerin |
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ISO |
DNA:deletion:cds:c.26_39delATACCGAGCTGACC(human) ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:28492532 PMID:24997722 |
RGD:13592595 |
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO ISS |
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MouseDO RGD |
PMID:12072561 |
RGD:734939 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Esrrb |
estrogen-related receptor beta |
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ISS |
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MouseDO |
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NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791
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G |
Eya4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
DNA:deletion:introns, exon (human) ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 PMID:15735644 |
RGD:1598455 |
NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
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G |
Fads2 |
fatty acid desaturase 2 |
treatment |
ISO |
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RGD |
PMID:24284026 |
RGD:401901245 |
NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
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G |
Fas |
Fas cell surface death receptor |
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IEP ISO |
protein:increased expression:cardiocyte CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17943461 PMID:16761189 |
RGD:1600334 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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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 chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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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 chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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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 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828
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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 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
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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: 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: 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 chr 9:45,388,979...45,462,421
Ensembl chr 9:45,388,981...45,431,192
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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 chr18:15,993,079...16,425,796
Ensembl chr18:15,993,324...16,425,796
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G |
Fkrp |
fukutin related protein |
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ISO |
DNA:missense mutation:exon:p.L276I (826C>A) (human) ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar RGD |
PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28688748 PMID:15833432 More...
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RGD:11667064 |
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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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 chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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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 chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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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, 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, 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: 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, 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: 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: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:36788754 PMID:37164047 PMID:37199186 PMID:37280362 PMID:37461109 PMID:37477868 PMID:37547072 PMID:37904629 PMID:37937776 PMID:38473809 More...
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NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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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 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
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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 chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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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 chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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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 chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
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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 chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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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 chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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G |
Gch1 |
GTP cyclohydrolase 1 |
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ISO |
mRNA:decreased expression:endocardium |
RGD |
PMID:15698596 |
RGD:329970287 |
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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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 chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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G |
Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO IEP |
protein:decreased expression:heart (rat) |
RGD |
PMID:12619876 PMID:26708424 |
RGD:1582667, RGD:264347602 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Gnao1 |
G protein subunit alpha o1 |
|
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 chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Gnaq |
G protein subunit alpha q |
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ISO ISS |
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MouseDO RGD |
PMID:9811897 |
RGD:1598475 |
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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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 chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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G |
Gpd1l |
glycerol-3-phosphate dehydrogenase 1 like |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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G |
Gpx1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
DNA:polymorphism: :p.P198L (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18940188 PMID:18940188 |
RGD:2306616 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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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 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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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 chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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G |
H19 |
H19 imprinted maternally expressed transcript |
ameliorates |
IMP |
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RGD |
PMID:28430627 |
RGD:156430329 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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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 chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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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:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Hfe |
homeostatic iron regulator |
susceptibility |
ISO |
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RGD |
PMID:11040018 |
RGD:1582687 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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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 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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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:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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G |
Hopx |
HOP homeobox |
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ISO |
mRNA:decreased expression:left ventricle |
RGD |
PMID:12920479 |
RGD:401793745 |
NCBI chr14:31,055,912...31,082,909
Ensembl chr14:31,075,148...31,082,909
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G |
Hp |
haptoglobin |
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ISO |
protein:increased expression |
RGD |
PMID:16360363 |
RGD:1626345 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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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 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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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 chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Il10 |
interleukin 10 |
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IEP |
mRNA:decreased expression:heart left ventricle |
RGD |
PMID:19242323 |
RGD:2311057 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Ilk |
integrin-linked kinase |
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ISO ISS |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar MouseDO |
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NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
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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 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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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 chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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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 chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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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 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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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 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
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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 chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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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:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174
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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 chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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G |
Jph2 |
junctophilin 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 RGD |
PMID:25741868 PMID:28492532 PMID:30384889 PMID:30615648 PMID:15541368 |
RGD:1580652 |
NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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G |
Jup |
junction plakoglobin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:19863551 PMID:20031617 PMID:20857253 PMID:21859740 PMID:23861362 PMID:24033266 PMID:25616645 PMID:25741868 PMID:25820315 PMID:26073755 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 chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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G |
Kat8 |
lysine acetyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
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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 chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
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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 |
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NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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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 chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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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 chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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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 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
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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 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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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 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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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 chr 4:178,185,418...178,218,484
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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 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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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 chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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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:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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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 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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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 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794
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G |
Ldb3 |
LIM domain binding 3 |
no_association |
ISO |
DNA:missense mutation:exon:p.S196L (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: 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 DNA:missense mutation: :p.D626N (human) DNA:missense mutation: :p.D117N (human) |
ClinVar RGD |
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 PMID:20852297 PMID:14660611 PMID:26419279 More...
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RGD:11098950, RGD:1580827, RGD:11527732 |
NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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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 chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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G |
Lepr |
leptin receptor |
susceptibility |
ISO |
DNA:polymorphism: :p.Q223R (human) |
RGD |
PMID:19337797 |
RGD:2311129 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lmna |
lamin A/C |
severity |
ISO |
associated with Muscular Dystrophy, Emery-Dreifuss;DNA:missense mutation:cds:p.H222P (mouse) 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: 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: 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: 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: 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 CTD Direct Evidence: marker/mechanism DNA:missense mutations, nonsense mutations:cds:multiple (human) DNA:missense mutations, deletion:cds:multiple (human) DNA:mutation |
ClinVar CTD RGD |
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:15996213 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: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:20019332 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: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:21945321 PMID:21970986 PMID:21980471 PMID:21989830 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:22570643 PMID:22611635 PMID:22685055 PMID:22700598 PMID:22761994 PMID:22806367 PMID:22883396 PMID:22893709 PMID:22918509 PMID:23062543 PMID:23077635 PMID:23141186 PMID:23142632 PMID:23150259 PMID:23183350 PMID:23217256 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23360689 PMID:23362510 PMID:23427149 PMID:23483212 PMID:23497705 PMID:23582089 PMID:23631840 PMID:23644458 PMID:23701190 PMID:23702046 PMID:23757202 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23969228 PMID:23977161 PMID:23990565 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24037902 PMID:24055113 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24169522 PMID:24237251 PMID:24305605 PMID:24375749 PMID:24386194 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24794538 PMID:24846508 PMID:24861648 PMID:24915601 PMID:24943589 PMID:24990833 PMID:25025039 PMID:25049529 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25274841 PMID:25286833 PMID:25319090 PMID:25324471 PMID:25326637 PMID:25343322 PMID:25351510 PMID:25371241 PMID:25448463 PMID:25469153 PMID:25524705 PMID:25525159 PMID:25556323 PMID:25567453 PMID:25569433 PMID:25617006 PMID:25637381 PMID:25656816 PMID:25741868 PMID:25793944 PMID:25819867 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25946677 PMID:25948554 PMID:25982065 PMID:25987458 PMID:25988045 PMID:26027246 PMID:26084686 PMID:26098624 PMID:26183555 PMID:26199943 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26392352 PMID:26404900 PMID:26443318 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26573435 PMID:26575312 PMID:26602028 PMID:26662654 PMID:26670336 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26752647 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27111165 PMID:27153395 PMID:27182706 PMID:27199538 PMID:27220833 PMID:27235420 PMID:27332903 PMID:27363342 PMID:27374873 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27595935 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841901 PMID:27841971 PMID:27845687 PMID:27854218 PMID:27884249 PMID:27886618 PMID:27896052 PMID:27896284 PMID:27919367 PMID:28069705 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28118183 PMID:28123761 PMID:28125586 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28341588 PMID:28349240 PMID:28416588 PMID:28436080 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28600387 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28686329 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28759816 PMID:28785654 PMID:28790152 PMID:28790155 PMID:28798025 PMID:28807990 PMID:28874324 PMID:28878338 PMID:28878402 PMID:28912206 PMID:28987496 PMID:29057633 PMID:29078011 PMID:29095976 PMID:29121657 PMID:29149195 PMID:29237675 PMID:29237690 PMID:29247119 PMID:29253866 PMID:29255176 PMID:29367541 PMID:29382405 PMID:29386531 PMID:29432544 PMID:29438482 PMID:29497013 PMID:29540472 PMID:29557732 PMID:29620724 PMID:29676528 PMID:29693488 PMID:29753763 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29893365 PMID:29895224 PMID:29907918 PMID:29943882 PMID:29947763 PMID:29952368 PMID:29961767 PMID:29970176 PMID:30007954 PMID:30008018 PMID:30012837 PMID:30055862 PMID:30107846 PMID:30122538 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30178466 PMID:30199159 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30453078 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30739589 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30911407 PMID:30919684 PMID:30954027 PMID:31006814 PMID:31019283 PMID:31042466 PMID:31127727 PMID:31194872 PMID:31208058 PMID:31264968 PMID:31296869 PMID:31303467 PMID:31378009 PMID:31383942 PMID:31402444 PMID:31410651 PMID:31428229 PMID:31447099 PMID:31453089 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:32698523 PMID:32727917 PMID:32746448 PMID:32789579 PMID:32789750 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32846814 PMID:32880476 PMID:32939435 PMID:32943904 PMID:33029862 PMID:33038109 PMID:33258288 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33502018 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33803652 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:34975533 PMID:34999423 PMID:35026164 PMID:35239206 PMID:35284542 PMID:35291351 PMID:35384599 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:36397776 PMID:36646731 PMID:37178278 PMID:37246508 PMID:37589201 PMID:37652022 PMID:37679847 PMID:17446932 PMID:22224630 PMID:12628721 PMID:18182166 PMID:18926329 More...
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RGD:2306094, RGD:11073137, RGD:1580515, RGD:2306092, RGD:2306091 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Lmod2 |
leiomodin 2 |
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ISS |
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MouseDO |
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NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120
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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 chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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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 chr16:46,241,554...46,269,221
Ensembl chr16:46,243,430...46,269,642
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G |
Lrrc10 |
leucine-rich repeat-containing 10 |
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ISS 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: 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: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
MouseDO ClinVar |
PMID:25741868 PMID:28032242 PMID:28166811 PMID:28492532 |
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NCBI chr 7:52,686,972...52,688,369
Ensembl chr 7:52,686,972...52,688,369
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
treatment |
IMP |
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RGD |
PMID:31512380 |
RGD:156431214 |
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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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 chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
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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 chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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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 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
treatment |
IEP |
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RGD |
PMID:22120037 |
RGD:8549486 |
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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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 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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G |
Mdm4 |
MDM4 regulator of p53 |
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ISS |
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MouseDO |
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NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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G |
Med1 |
mediator complex subunit 1 |
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ISO ISS |
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MouseDO RGD |
PMID:27548259 |
RGD:13513972 |
NCBI chr10:83,145,538...83,189,260
Ensembl chr10:83,145,568...83,189,299
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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 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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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 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
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G |
Mfn1 |
mitofusin 1 |
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ISO |
with Mfn2 knockout |
RGD |
PMID:22052916 |
RGD:11251967 |
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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G |
Mfn2 |
mitofusin 2 |
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ISO |
with Mfn1 knockout |
RGD |
PMID:22052916 |
RGD:11251967 |
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mir208b |
microRNA 208b |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
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G |
Mir675 |
microRNA 675 |
ameliorates |
IEP |
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RGD |
PMID:28430627 |
RGD:156430329 |
NCBI chr 1:197,732,275...197,732,358
Ensembl chr 1:197,732,275...197,732,358
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G |
Mmp1 |
matrix metallopeptidase 1 |
severity |
ISO |
mRNA:increased expression:myocardium (human) |
RGD |
PMID:17178334 PMID:12167381 |
RGD:4890382, RGD:1582541 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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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 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp14 |
matrix metallopeptidase 14 |
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ISO |
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RGD |
PMID:16037568 |
RGD:1582576 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
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RGD |
PMID:16037568 |
RGD:1582576 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mrgprd |
MAS related GPR family member D |
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ISS |
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MouseDO |
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NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148
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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:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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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:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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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:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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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:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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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:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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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:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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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:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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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:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
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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:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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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:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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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:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Mtif3 |
mitochondrial translational initiation factor 3 |
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ISS |
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MouseDO |
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NCBI chr12:8,126,193...8,140,706
Ensembl chr12:8,126,276...8,140,470
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G |
Mtpn |
myotrophin |
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ISO |
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RGD |
PMID:8508536 |
RGD:1581048 |
NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724
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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 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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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, 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: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:30165862 PMID:30316040 PMID:30471092 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 More...
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NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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G |
Myh6 |
myosin heavy chain 6 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism 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 Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
CTD ClinVar MouseDO |
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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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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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: 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: 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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:737223 PMID:901918 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:11986409 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: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:24721642 PMID:24758099 PMID:24793961 PMID:24829265 PMID:25031304 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25326635 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: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: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:29540472 PMID:29666183 PMID:29709087 PMID:29773157 PMID:29867217 PMID:29892087 PMID:29907873 PMID:29915098 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: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 | |