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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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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 chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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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 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
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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 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783
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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 chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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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 chr10:35,247,426...35,335,545
Ensembl chr10:35,825,218...35,912,432
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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 chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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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 chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
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LOC100982570 |
prorelaxin H1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22028442 |
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NCBI chr 9:5,173,570...5,255,799
Ensembl chr 9:5,359,582...5,364,386
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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 chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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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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Ensembl chr16:30,489,362...30,498,017
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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 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
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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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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SIRT1 |
sirtuin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23297412 |
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NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
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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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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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 3:177,640,127...177,705,885
Ensembl chr 3:185,813,245...185,878,362
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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 |
OMIM ClinVar |
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:27426421 PMID:27928778 PMID:28296734 PMID:28492532 PMID:28771251 PMID:29625556 PMID:34008892 More...
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NCBI chr 3:178,019,161...178,025,272
Ensembl chr 3:186,191,128...186,195,666
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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 3:177,948,040...178,012,705
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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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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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 chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382
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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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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SERPINE1 |
serpin family E member 1 |
susceptibility |
ISO |
DNA:polymorphism:promoter: |
RGD |
PMID:18685811 |
RGD:10755472 |
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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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 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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LOC100990811 |
fucose-1-phosphate guanylyltransferase |
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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 1:73,464,364...73,772,977
Ensembl chr 1:75,403,555...75,747,240
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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 1:73,698,516...73,741,908
Ensembl chr 1:75,674,245...75,687,706
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ACE |
angiotensin I converting enzyme |
treatment |
ISO |
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RGD |
PMID:24342267 |
RGD:11039415 |
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ACOT2 |
acyl-CoA thioesterase 2 |
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ISO |
mRNA:decreased expression:heart (rat) |
RGD |
PMID:15292030 |
RGD:2315862 |
NCBI chr14:54,128,445...54,135,067
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ADCY10 |
adenylate cyclase 10 |
ameliorates |
ISO |
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RGD |
PMID:29466442 |
RGD:329337358 |
NCBI chr 1:143,239,576...143,404,038
Ensembl chr 1:147,023,671...147,129,705
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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 chr 5:155,307,148...155,363,785
Ensembl chr 5:161,923,895...161,979,461
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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 chr10:107,669,860...107,673,685
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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 chr 4:3,904,346...3,906,577
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AGT |
angiotensinogen |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
RGD CTD |
PMID:11403367 PMID:15226216 PMID:15851630 PMID:15870116 PMID:17124262 PMID:18400235 PMID:19779471 PMID:19794523 PMID:20190099 PMID:20409916 PMID:20429690 PMID:20616315 PMID:20811386 PMID:21367774 PMID:22291909 PMID:22335191 PMID:23188126 PMID:24342267 PMID:25139994 PMID:25488910 PMID:27099261 PMID:29353218 PMID:30634441 PMID:30703374 PMID:31016362 PMID:35510648 More...
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RGD:11039415 RGD:155663352 RGD:5129174 RGD:8548902 |
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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AGTR1 |
angiotensin II receptor type 1 |
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ISO |
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RGD |
PMID:10639182 PMID:11324571 PMID:21367774 |
RGD:10047105 RGD:5129174 RGD:737777 |
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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AGTRAP |
angiotensin II receptor associated protein |
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ISO |
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RGD |
PMID:18725581 |
RGD:2314351 |
NCBI chr 1:10,498,245...10,512,906
Ensembl chr 1:11,715,672...11,730,326
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AHR |
aryl hydrocarbon receptor |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12665660 PMID:23528973 PMID:24247421 |
RGD:401784499 RGD:401793732 |
NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
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AKAP5 |
A-kinase anchoring protein 5 |
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ISO |
CTD Direct Evidence: therapeutic human gene, mouse model |
CTD RGD |
PMID:11248077 |
RGD:2313290 |
NCBI chr14:45,045,476...45,050,946
Ensembl chr14:63,302,200...63,303,483
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AKT1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12237475 PMID:24448315 |
RGD:734544 |
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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ANKRD1 |
ankyrin repeat domain 1 |
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ISO |
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RGD |
PMID:10904011 |
RGD:1578370 |
NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165
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ANXA2 |
annexin A2 |
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ISO |
mRNA:increased expression:heart: |
RGD |
PMID:10603972 |
RGD:10053694 |
NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
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ANXA5 |
annexin A5 |
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ISO |
mRNA:increased expression:heart: |
RGD |
PMID:10603972 |
RGD:10053694 |
NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972
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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 7:142,434,732...142,443,050
Ensembl chr 7:154,563,523...154,595,248
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APLN |
apelin |
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ISO |
associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16674982 PMID:30634441 |
RGD:1626173 |
NCBI chr X:118,775,509...118,785,224
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ARNT |
aryl hydrocarbon receptor nuclear translocator |
treatment |
ISO |
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RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629
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ATF3 |
activating transcription factor 3 |
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ISO |
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RGD |
PMID:11485922 |
RGD:7327201 |
NCBI chr 1:188,176,728...188,188,842
Ensembl chr 1:193,036,793...193,049,150
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ATG16L1 |
autophagy related 16 like 1 |
treatment |
ISO |
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RGD |
PMID:24998254 |
RGD:11561938 |
NCBI chr2B:120,479,534...120,523,563
Ensembl chr2B:239,392,990...239,436,766
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ATG5 |
autophagy related 5 |
treatment |
ISO |
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RGD |
PMID:24998254 |
RGD:11561938 |
NCBI chr 6:103,997,824...104,140,931
Ensembl chr 6:107,871,208...108,013,807
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ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
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RGD |
PMID:15644428 |
RGD:6903354 |
NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
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ATP2A2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11679415 PMID:29792884 |
RGD:13782078 |
NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
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ATP5F1D |
ATP synthase F1 subunit delta |
treatment |
ISO |
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RGD |
PMID:25880160 |
RGD:13792672 |
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AVPR1A |
arginine vasopressin receptor 1A |
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ISO |
associated with Heart Failure, Congestive |
RGD |
PMID:18467593 |
RGD:2300338 |
NCBI chr12:25,793,633...25,803,026
Ensembl chr12:26,065,882...26,075,972
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BAD |
BCL2 associated agonist of cell death |
treatment |
ISO |
associated with Hypertension |
RGD |
PMID:21921241 |
RGD:10053646 |
NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
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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 chr10:28,833,690...28,839,164
Ensembl chr10:29,187,857...29,193,324
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BECN1 |
beclin 1 |
treatment |
ISO |
mRNA, protein:increased expression:heart left ventricle |
RGD |
PMID:23326547 PMID:24998254 |
RGD:11561904 RGD:11561938 |
NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
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BMP4 |
bone morphogenetic protein 4 |
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ISO |
protein:increased expression:heart: |
RGD |
PMID:23747723 |
RGD:8847123 |
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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BRF1 |
BRF1 general transcription factor IIIB subunit |
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ISO |
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RGD |
PMID:18420946 |
RGD:9686423 |
NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465
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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 chr22:4,816,411...4,984,760
Ensembl chr22:22,927,572...23,070,165
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CAMK2D |
calcium/calmodulin dependent protein kinase II delta |
treatment |
ISO |
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RGD |
PMID:26619200 |
RGD:401940196 |
NCBI chr 4:105,957,773...106,271,887
Ensembl chr 4:116,523,850...116,835,387
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CAV1 |
caveolin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:aorta |
CTD RGD |
PMID:17487232 |
RGD:2289120 |
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
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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 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942
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CCND2 |
cyclin D2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15576649 |
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NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
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CD36 |
CD36 molecule (CD36 blood group) |
treatment |
ISO |
associated with Obesity |
RGD |
PMID:26036798 |
RGD:11040928 |
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
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CD38 |
CD38 molecule |
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ISO |
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RGD |
PMID:18719074 |
RGD:2307236 |
NCBI chr 4:10,228,803...10,295,129
Ensembl chr 4:15,525,835...15,587,677
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CD44 |
CD44 molecule (IN blood group) |
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ISO |
protein:increased expression:coronary artery |
RGD |
PMID:18196276 |
RGD:2289364 |
NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
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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 chr20:46,533,163...46,535,282
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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 chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548
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CORIN |
corin, serine peptidase |
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ISO |
DNA:SNPs:associated with increased risk mRNA:increased expression:heart (rat) |
RGD |
PMID:15191894 PMID:17485366 |
RGD:1581217 RGD:1626338 |
NCBI chr 4:74,311,036...74,555,742
Ensembl chr 4:85,043,182...85,286,573
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CPT1B |
carnitine palmitoyltransferase 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24330405 |
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NCBI chr22:30,815,073...30,825,341
Ensembl chr22:49,926,893...49,935,420
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CREM |
cAMP responsive element modulator |
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ISO |
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RGD |
PMID:15569686 |
RGD:1581291 |
NCBI chr10:35,247,426...35,335,545
Ensembl chr10:35,825,218...35,912,432
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CS |
citrate synthase |
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ISO |
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RGD |
PMID:12941647 |
RGD:243048478 |
NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854
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CTF1 |
cardiotrophin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18400235 PMID:19100119 |
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NCBI chr16:24,065,866...24,072,973
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CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
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ISO |
mRNA:increased expression:cardiac muscle tissue (mouse) mRNA:increased expression:cardiac muscle tissue (rat) |
RGD |
PMID:19349910 |
RGD:4145630 |
NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
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CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
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ISO |
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RGD |
PMID:15939810 |
RGD:2307307 |
NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
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CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18725507 PMID:23528973 |
RGD:401793732 |
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
treatment |
ISO |
associated with Hypertension CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18725507 PMID:20805442 PMID:23528973 |
RGD:401793732 RGD:7829714 |
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18725507 |
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Ensembl chr10:134,839,025...134,852,719
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G |
DLL4 |
delta like canonical Notch ligand 4 |
treatment |
ISO |
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RGD |
PMID:23188126 |
RGD:155663352 |
NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
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DMD |
dystrophin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23297412 |
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NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733
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G |
DSC2 |
desmocollin 2 |
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ISO |
protein:increased expression:heart (rat) |
RGD |
PMID:26708424 |
RGD:264347602 |
NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843
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G |
DSG2 |
desmoglein 2 |
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ISO |
protein:increased expression:heart (rat) |
RGD |
PMID:26708424 |
RGD:264347602 |
NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
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DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
treatment |
ISO |
protein:decreased expression:heart (rat) |
RGD |
PMID:19906449 PMID:24524606 PMID:26619200 |
RGD:401940196 RGD:401959210 RGD:401959215 |
NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987
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G |
EDN1 |
endothelin 1 |
severity |
ISO |
protein:increased expression:heart ventricle, plasma (rat) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:7771559 PMID:22198280 |
RGD:8661803 |
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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G |
EGFR |
epidermal growth factor receptor |
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ISO |
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RGD |
PMID:15652507 |
RGD:1580954 |
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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EGR1 |
early growth response 1 |
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ISO |
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RGD |
PMID:16025126 |
RGD:5131654 |
NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
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G |
EP300 |
E1A binding protein p300 |
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ISO |
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) |
RGD |
PMID:23211718 |
RGD:7327187 |
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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G |
EPAS1 |
endothelial PAS domain protein 1 |
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ISO |
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RGD |
PMID:14608355 |
RGD:734934 |
NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
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G |
ERRFI1 |
ERBB receptor feedback inhibitor 1 |
treatment |
ISO |
protein:increased expression:heart: |
RGD |
PMID:19204184 |
RGD:9685562 |
NCBI chr 1:6,771,619...6,786,217
Ensembl chr 1:8,011,848...8,033,674
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G |
FADS2 |
fatty acid desaturase 2 |
treatment |
ISO |
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RGD |
PMID:24284026 |
RGD:401901245 |
NCBI chr11:57,192,881...57,232,574
Ensembl chr11:60,476,082...60,591,649
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G |
FGF2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:heart |
CTD RGD |
PMID:10491406 PMID:18196276 |
RGD:2289364 |
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
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G |
FGF21 |
fibroblast growth factor 21 |
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ISO |
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RGD |
PMID:23771152 |
RGD:10401893 |
NCBI chr19:45,755,466...45,758,472
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G |
FHL2 |
four and a half LIM domains 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25358972 |
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NCBI chr2A:96,391,513...96,469,267
Ensembl chr2A:106,446,368...106,484,895
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G |
FNDC5 |
fibronectin type III domain containing 5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:30703374 |
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NCBI chr 1:32,152,828...32,161,447
Ensembl chr 1:33,338,886...33,347,284
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G |
FXYD1 |
FXYD domain containing ion transport regulator 1 |
treatment |
ISO |
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RGD |
PMID:24218169 |
RGD:9685471 |
NCBI chr19:32,080,180...32,089,141
Ensembl chr19:40,824,448...40,827,039
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G |
GAS6 |
growth arrest specific 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19564549 |
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Ensembl chr13:113,968,843...114,009,562
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G |
GATA4 |
GATA binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16259952 PMID:18252717 |
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NCBI chr 8:7,442,921...7,526,731
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GDF1 |
growth differentiation factor 1 |
exacerbates |
ISO |
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RGD |
PMID:24275554 |
RGD:11252017 |
NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487
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G |
GLRX3 |
glutaredoxin 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16809552 |
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NCBI chr10:126,730,314...126,775,918
Ensembl chr10:130,973,022...131,019,742
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G |
GPX3 |
glutathione peroxidase 3 |
treatment |
ISO |
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RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 5:146,447,939...146,456,476
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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:11052788 RGD:13792712 |
NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066
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G |
GRK3 |
G protein-coupled receptor kinase 3 |
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ISO |
mRNA:increased expression:heart left ventricle (rat) |
RGD |
PMID:20677219 |
RGD:5685025 |
NCBI chr22:6,579,664...6,789,846
Ensembl chr22:24,353,533...24,509,560
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G |
GSK3B |
glycogen synthase kinase 3 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17901358 PMID:19318234 |
RGD:10045585 |
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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G |
GSN |
gelsolin |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30240538 |
RGD:329333015 |
NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831
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G |
GSR |
glutathione-disulfide reductase |
treatment |
ISO |
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RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
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G |
GSTM2 |
glutathione S-transferase mu 2 |
treatment |
ISO |
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RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 1:112,043,201...112,050,810
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G |
HAMP |
hepcidin antimicrobial peptide |
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ISO |
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RGD |
PMID:24424338 |
RGD:11041632 |
NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
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G |
HAND1 |
heart and neural crest derivatives expressed 1 |
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ISO |
mRNA:decreased expression:heart left ventricle mRNA:decreased expression:heart ventricle |
RGD |
PMID:12359233 |
RGD:727442 |
NCBI chr 5:149,876,970...149,880,269
Ensembl chr 5:155,875,935...155,878,166
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G |
HAND2 |
heart and neural crest derivatives expressed 2 |
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ISO |
CTD Direct Evidence: marker/mechanism mRNA:altered expression:cardiac ventricle mRNA:decreased expression:heart right ventricle |
CTD RGD |
PMID:12359233 PMID:29394407 |
RGD:727442 |
NCBI chr 4:165,755,000...165,758,735
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G |
HAS1 |
hyaluronan synthase 1 |
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ISO |
mRNA:increased expression:heart |
RGD |
PMID:18196276 |
RGD:2289364 |
NCBI chr19:48,657,165...48,668,130
Ensembl chr19:57,537,049...57,547,804
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G |
HAS2 |
hyaluronan synthase 2 |
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ISO |
mRNA:increased expression:heart |
RGD |
PMID:18196276 |
RGD:2289364 |
NCBI chr 8:118,313,186...118,342,160
Ensembl chr 8:121,072,154...121,089,365
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G |
HDAC2 |
histone deacetylase 2 |
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ISO |
protein:increased activity:heart: protein:increased acetylation:heart: CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18625706 PMID:18849323 PMID:24526703 |
RGD:2306446 RGD:9590211 |
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
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G |
HDAC8 |
histone deacetylase 8 |
treatment |
ISO |
associated with Hypertension |
RGD |
PMID:23868068 PMID:25504627 |
RGD:13208811 RGD:9681716 |
NCBI chr X:61,565,790...61,811,588
Ensembl chr X:71,649,341...71,894,896
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G |
HES1 |
hes family bHLH transcription factor 1 |
treatment |
ISO |
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RGD |
PMID:23188126 |
RGD:155663352 |
NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
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G |
HFE |
homeostatic iron regulator |
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ISO |
associated with hemochromatosis |
RGD |
PMID:28720890 |
RGD:14746969 |
NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12665660 PMID:15942707 |
RGD:401784499 |
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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G |
HMGB1 |
high mobility group box 1 |
treatment |
ISO |
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RGD |
PMID:23708738 |
RGD:10402070 |
NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
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G |
HMOX1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15226216 |
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NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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G |
HRC |
histidine rich calcium binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17030629 |
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NCBI chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463
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G |
HSF1 |
heat shock transcription factor 1 |
treatment |
ISO |
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RGD |
PMID:25804640 |
RGD:10402399 |
NCBI chr 8:141,055,310...141,078,360
Ensembl chr 8:144,062,137...144,067,866
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G |
HTR2A |
5-hydroxytryptamine receptor 2A |
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ISO |
protein:increased expression:heart |
RGD |
PMID:20005206 |
RGD:401938624 |
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
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G |
HTR2B |
5-hydroxytryptamine receptor 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15302781 PMID:19023134 PMID:20374255 |
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NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
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G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27469509 |
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NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
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G |
IGF1 |
insulin like growth factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10547078 |
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NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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G |
IGF1R |
insulin like growth factor 1 receptor |
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ISO |
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RGD |
PMID:18801929 |
RGD:2311509 |
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
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G |
IL18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18660453 |
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NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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G |
IL1B |
interleukin 1 beta |
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ISO |
mRNA, protein:increased expression:heart CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15302781 PMID:15542404 |
RGD:1581939 |
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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G |
IL1RL1 |
interleukin 1 receptor like 1 |
severity |
ISO |
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RGD |
PMID:17492053 |
RGD:40813740 |
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G |
IL33 |
interleukin 33 |
treatment |
ISO |
protein:increased expression:cardiomyocyte |
RGD |
PMID:17492053 |
RGD:40813740 |
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
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G |
IL6 |
interleukin 6 |
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ISO |
mRNA, protein:increased expression:heart |
RGD |
PMID:15542404 |
RGD:1581939 |
NCBI chr 7:23,415,922...23,420,767
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G |
IL6ST |
interleukin 6 cytokine family signal transducer |
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ISO |
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RGD |
PMID:10219240 |
RGD:737751 |
NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
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G |
IRF4 |
interferon regulatory factor 4 |
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ISO |
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RGD |
PMID:23589561 |
RGD:11530060 |
NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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G |
IRX4 |
iroquois homeobox 4 |
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ISO |
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RGD |
PMID:11238910 |
RGD:1582289 |
Ensembl chr 5:1,929,977...1,939,622
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G |
ITGA3 |
integrin subunit alpha 3 |
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ISO |
protein:increased expression:cardiac myocyte (rat) |
RGD |
PMID:1835909 |
RGD:2325829 |
NCBI chr17:44,145,974...44,181,343
Ensembl chr17:49,019,892...49,055,245
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G |
ITPR2 |
inositol 1,4,5-trisphosphate receptor type 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20616315 |
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NCBI chr12:59,478,206...59,984,572
Ensembl chr12:62,092,241...62,596,018
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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 |
RGD:9586036 |
NCBI chr16:23,837,540...23,851,376
Ensembl chr16:31,486,098...31,500,185
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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 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814
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G |
KDM4A |
lysine demethylase 4A |
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ISO |
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RGD |
PMID:21555854 |
RGD:9587422 |
NCBI chr 1:42,949,977...43,005,684
Ensembl chr 1:44,325,624...44,380,163
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G |
KL |
klotho |
treatment |
ISO |
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RGD |
PMID:23225045 |
RGD:10403062 |
NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
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G |
KLF5 |
KLF transcription factor 5 |
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ISO |
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RGD |
PMID:15098654 |
RGD:1304323 |
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G |
KLK1 |
kallikrein 1 |
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ISO |
|
RGD |
PMID:17137568 |
RGD:1641797 |
NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216
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G |
LIF |
LIF interleukin 6 family cytokine |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15226216 |
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NCBI chr22:11,276,576...11,282,972
Ensembl chr22:29,078,862...29,095,608
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G |
LOC100972878 |
cytochrome c oxidase subunit 5B, mitochondrial |
|
ISO |
associated with Hypertension |
RGD |
PMID:16132109 |
RGD:2301377 |
NCBI chr2A:101,675,232...101,677,417
Ensembl chr2A:98,544,980...98,547,502
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G |
LOC100978529 |
myosin-7 |
|
ISO |
mRNA, protein:increased expression:heart (mouse) |
RGD |
PMID:1703406 PMID:26597775 |
RGD:11554891 RGD:12798563 |
NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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G |
LOC100979269 |
alpha-2-macroglobulin |
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ISO |
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RGD |
PMID:12494268 |
RGD:1549856 |
NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979
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G |
LOC100986475 |
metallothionein-2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11309296 |
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NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093
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G |
LOC100986730 |
guanine nucleotide-binding protein G(q) subunit alpha |
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ISO |
|
RGD |
PMID:9811897 |
RGD:1598475 |
NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
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G |
LOXL1 |
lysyl oxidase like 1 |
|
ISO |
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RGD |
PMID:17378376 |
RGD:7394734 |
NCBI chr15:52,835,675...52,861,324
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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 chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914
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G |
LYN |
LYN proto-oncogene, Src family tyrosine kinase |
|
ISO |
|
RGD |
PMID:17039281 |
RGD:2303711 |
NCBI chr 8:52,318,497...52,455,741
Ensembl chr 8:49,755,708...49,825,287
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G |
MAP1LC3A |
microtubule associated protein 1 light chain 3 alpha |
treatment |
ISO |
|
RGD |
PMID:24998254 |
RGD:11561938 |
NCBI chr20:30,887,345...30,888,986
Ensembl chr20:32,010,284...32,020,411
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G |
MAP2K5 |
mitogen-activated protein kinase kinase 5 |
|
ISO |
|
RGD |
PMID:11387209 |
RGD:1580866 |
NCBI chr15:46,493,139...46,760,271
Ensembl chr15:64,761,394...65,029,655
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G |
MAP2K6 |
mitogen-activated protein kinase kinase 6 |
|
ISO |
|
RGD |
PMID:12750397 PMID:15722372 |
RGD:13782145 RGD:1582275 |
NCBI chr17:63,342,720...63,483,926
Ensembl chr17:68,730,011...68,870,454
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
treatment ameliorates |
ISO |
mRNA:increased expression:wall of left ventricle (rat) protein:increased phosphorylation:heart (mouse) |
RGD |
PMID:26891723 PMID:27956576 PMID:28821620 PMID:30407523 PMID:30854566 PMID:31885808 PMID:32971071 PMID:34733837 PMID:35490166 More...
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RGD:11555743 RGD:155791643 RGD:155791644 RGD:155791647 RGD:155791649 RGD:155791650 RGD:155791668 RGD:155791674 RGD:155804266 |
NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468
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MAPK1 |
mitogen-activated protein kinase 1 |
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ISO |
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RGD |
PMID:15607907 |
RGD:1582283 |
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MAPK8 |
mitogen-activated protein kinase 8 |
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ISO |
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RGD |
PMID:12668503 |
RGD:1582316 |
NCBI chr10:45,806,748...45,936,362
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MEIS1 |
Meis homeobox 1 |
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ISO |
mRNA, protein:decreased expression:heart (mouse) |
RGD |
PMID:26597775 |
RGD:11554891 |
NCBI chr2A:66,494,934...66,633,295
Ensembl chr2A:67,615,941...67,752,958
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MET |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
protein:increased expression:ventricle (rat) |
RGD |
PMID:10489112 |
RGD:2317547 |
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
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MFN1 |
mitofusin 1 |
treatment |
ISO |
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RGD |
PMID:28503736 |
RGD:12910714 |
NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
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MFN2 |
mitofusin 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:heart (mouse) associated with Hypertension:protein:decreased expression:heart (rat) |
RGD CTD |
PMID:17499311 PMID:27085127 PMID:27565029 PMID:27847271 PMID:28503736 |
RGD:12910714 RGD:12910764 RGD:12910768 RGD:12910835 |
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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MMP2 |
matrix metallopeptidase 2 |
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ISO |
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RGD |
PMID:16327176 |
RGD:1582627 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MMP9 |
matrix metallopeptidase 9 |
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ISO |
mRNA:increased expression:heart left ventricle |
RGD |
PMID:17207419 |
RGD:1642047 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MTOR |
mechanistic target of rapamycin kinase |
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ISO |
associated with Aortic Valve Stenosis |
RGD |
PMID:20861467 |
RGD:10003169 |
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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G |
MYBPC3 |
myosin binding protein C3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22189562 |
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NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
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MYC |
MYC proto-oncogene, bHLH transcription factor |
treatment |
ISO |
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RGD |
PMID:22000973 |
RGD:7240700 |
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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MYH6 |
myosin heavy chain 6 |
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ISO |
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RGD |
PMID:1703406 |
RGD:12798563 |
NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
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MYOCD |
myocardin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16556869 |
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NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659
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NDUFS3 |
NADH:ubiquinone oxidoreductase core subunit S3 |
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ISO |
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RGD |
PMID:24388463 |
RGD:7800726 |
NCBI chr11:47,528,680...47,534,206
Ensembl chr11:48,078,332...48,083,863
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NFE2L2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO |
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RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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G |
NKX2-5 |
NK2 homeobox 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28973413 |
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NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
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NME1 |
NME/NM23 nucleoside diphosphate kinase 1 |
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ISO |
protein:increased expression:heart, plasma membrane (rat) |
RGD |
PMID:14559858 |
RGD:5132887 |
NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636
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NOS1 |
nitric oxide synthase 1 |
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ISO |
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RGD |
PMID:17673519 |
RGD:1642136 |
NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
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NOS3 |
nitric oxide synthase 3 |
treatment |
ISO |
protein:increased expression:aorta CTD Direct Evidence: marker/mechanism|therapeutic |
RGD CTD |
PMID:11504159 PMID:12224825 PMID:16844920 PMID:17487232 PMID:29331788 |
RGD:13504707 RGD:2289120 |
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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NOTCH1 |
notch receptor 1 |
treatment |
ISO |
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RGD |
PMID:23188126 |
RGD:155663352 |
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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NPPA |
natriuretic peptide A |
ameliorates treatment |
ISO |
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:heart (mouse) |
CTD RGD |
PMID:12224825 PMID:18056528 PMID:20886221 PMID:21242511 PMID:21297083 PMID:22083722 PMID:23188126 PMID:23905381 PMID:24275554 PMID:26597775 More...
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RGD:11252017 RGD:11554891 RGD:155663352 RGD:7297051 |
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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NPPB |
natriuretic peptide B |
ameliorates treatment |
ISO |
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:heart (mouse) associated with Hypertension;mRNA:increased expression:heart |
CTD RGD |
PMID:15942707 PMID:15969258 PMID:16762434 PMID:18056528 PMID:21273244 PMID:21565836 PMID:23905381 PMID:24275554 More...
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RGD:11252017 RGD:1642206 RGD:401940178 RGD:7297051 |
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
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NPR1 |
natriuretic peptide receptor 1 |
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ISO |
associated with Hypertension CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9405681 PMID:20881240 |
RGD:737701 |
NCBI chr 1:129,034,972...129,050,439
Ensembl chr 1:132,664,948...132,679,327
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OGT |
O-linked N-acetylglucosamine (GlcNAc) transferase |
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ISO |
protein:increased expression:heart left ventricle (rat) |
RGD |
PMID:22128088 |
RGD:9590202 |
NCBI chr X:60,798,219...60,840,948
Ensembl chr X:70,852,687...70,894,921
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OPA1 |
OPA1 mitochondrial dynamin like GTPase |
treatment |
ISO |
associated with Hypertension |
RGD |
PMID:22406748 PMID:24388463 PMID:28503736 |
RGD:12910714 RGD:7800697 RGD:7800726 |
NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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PAK1 |
p21 (RAC1) activated kinase 1 |
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ISO |
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RGD |
PMID:22082674 |
RGD:11533929 |
NCBI chr11:72,372,577...72,524,817
Ensembl chr11:76,015,998...76,104,197
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G |
PARP2 |
poly(ADP-ribose) polymerase 2 |
treatment |
ISO |
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RGD |
PMID:25281201 |
RGD:13514043 |
NCBI chr14:1,215,727...1,230,006
Ensembl chr14:19,269,046...19,282,853
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G |
PDE5A |
phosphodiesterase 5A |
treatment |
ISO |
|
RGD |
PMID:15665834 |
RGD:1581008 |
NCBI chr 4:111,682,772...111,817,234
Ensembl chr 4:122,832,175...122,966,636
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G |
PDE9A |
phosphodiesterase 9A |
treatment |
ISO |
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RGD |
PMID:25799991 PMID:28649129 PMID:33464954 |
RGD:240550109 RGD:241060360 RGD:242905185 |
NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
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PDGFRB |
platelet derived growth factor receptor beta |
|
ISO |
associated with Hypertension;protein:increased expression:heart |
RGD |
PMID:11973598 |
RGD:2292215 |
NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12963636 |
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NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
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G |
PIN1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
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ISO |
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RGD |
PMID:23487407 |
RGD:8693424 |
NCBI chr19:9,389,829...9,404,099
Ensembl chr19:10,053,254...10,066,853
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PLAU |
plasminogen activator, urokinase |
treatment |
ISO |
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RGD |
PMID:22160250 |
RGD:7241558 |
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
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G |
PLD1 |
phospholipase D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15988127 |
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NCBI chr 3:168,606,342...168,816,383
Ensembl chr 3:176,790,753...176,961,033
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G |
PLD2 |
phospholipase D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15988127 |
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NCBI chr17:4,853,919...4,870,254
Ensembl chr17:4,843,217...4,858,425
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G |
PLPP3 |
phospholipid phosphatase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28982073 |
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NCBI chr 1:55,779,343...55,862,717
Ensembl chr 1:57,489,178...57,573,398
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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 chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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G |
POSTN |
periostin |
severity |
ISO |
mRNA,protein:increased expression:left ventricle: |
RGD |
PMID:16414453 |
RGD:10040951 |
NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212
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G |
PPARA |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22198280 |
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Ensembl chr22:45,218,364...45,302,970
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G |
PPARD |
peroxisome proliferator activated receptor delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15728586 PMID:20075336 |
RGD:1580656 |
NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132
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G |
PPARGC1A |
PPARG coactivator 1 alpha |
|
ISO |
protein:increased expression:myocardium of left ventricle (rat) |
RGD |
PMID:14726475 PMID:22105890 |
RGD:10053662 RGD:7242192 |
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
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G |
PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
|
RGD |
PMID:12515860 PMID:21273244 |
RGD:401940178 RGD:734902 |
NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
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G |
PRKAA2 |
protein kinase AMP-activated catalytic subunit alpha 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18812163 |
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NCBI chr 1:55,928,577...55,998,628
Ensembl chr 1:57,664,237...57,702,227
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G |
PRKCA |
protein kinase C alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15792354 PMID:21565836 |
RGD:1581271 |
NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
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G |
PRKCB |
protein kinase C beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:12887134 PMID:17121852 |
RGD:1581276 |
NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203
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G |
PRKCD |
protein kinase C delta |
|
ISO |
associated with Hypertension |
RGD |
PMID:15792354 |
RGD:1581271 |
NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910
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PRKCE |
protein kinase C epsilon |
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ISO |
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RGD |
PMID:15792354 |
RGD:1581271 |
NCBI chr2A:45,757,629...46,294,064
Ensembl chr2A:46,688,436...47,220,313
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G |
PRKCZ |
protein kinase C zeta |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27094369 |
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NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855
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G |
PRKD1 |
protein kinase D1 |
ameliorates |
ISO |
protein:increased activity:heart (mouse) human gene in a mouse model protein:increased phosphorylation:heart left ventricle (rat) |
RGD |
PMID:16648482 PMID:18287012 PMID:24161911 PMID:36172952 |
RGD:243048462 RGD:243065275 RGD:307436945 RGD:329322877 |
NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030
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PTEN |
phosphatase and tensin homolog |
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ISO |
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RGD |
PMID:11448956 PMID:16188065 |
RGD:1581282 RGD:2292549 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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G |
RAC1 |
Rac family small GTPase 1 |
|
ISO |
|
RGD |
PMID:16651530 PMID:16698001 |
RGD:1581293 RGD:1581294 |
NCBI chr 7:7,039,379...7,068,866
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RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
DNA:point mutation:exon:p.D486N (mouse) |
RGD |
PMID:22826437 |
RGD:12910709 |
NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871
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G |
RAMP2 |
receptor activity modifying protein 2 |
|
ISO |
|
RGD |
PMID:15680493 |
RGD:1642686 |
NCBI chr17:14,554,888...14,557,175
Ensembl chr17:14,779,666...14,781,481
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G |
RAPGEF3 |
Rap guanine nucleotide exchange factor 3 |
susceptibility |
ISO |
protein:increased expression:left ventricle myocardium (rat) |
RGD |
PMID:18323524 PMID:25411381 |
RGD:9835356 RGD:9850089 |
NCBI chr12:40,974,756...40,999,471
Ensembl chr12:41,848,785...41,873,252
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RB1 |
RB transcriptional corepressor 1 |
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ISO |
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RGD |
PMID:18420946 |
RGD:9686423 |
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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G |
RBCK1 |
RANBP2-type and C3HC4-type zinc finger containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17121852 |
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NCBI chr20:615,987...639,366
Ensembl chr20:386,569...409,580
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G |
RBM10 |
RNA binding motif protein 10 |
|
ISO |
protein:decreased expression:heart |
RGD |
PMID:30257214 |
RGD:151667449 |
NCBI chr X:39,582,480...39,623,749
Ensembl chr X:47,440,815...47,481,204
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G |
RBP4 |
retinol binding protein 4 |
ameliorates |
ISO |
|
RGD |
PMID:25911613 |
RGD:329845871 |
NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
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RCAN1 |
regulator of calcineurin 1 |
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ISO |
|
RGD |
PMID:12124198 PMID:12515860 |
RGD:625605 RGD:734902 |
NCBI chr21:20,889,123...20,987,964
Ensembl chr21:34,258,355...34,267,025
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RELA |
RELA proto-oncogene, NF-kB subunit |
treatment |
ISO |
|
RGD |
PMID:15728586 PMID:15749748 |
RGD:1580656 RGD:1581122 |
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
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REN |
renin |
|
ISO |
mRNA:increased expression:heart, kidney (mouse) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15367398 PMID:20429690 PMID:20811386 |
RGD:6771378 |
NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
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G |
RHOA |
ras homolog family member A |
|
ISO |
associated with Hypertension;protein:increased activation:heart protein:increased expression:cardiac muscle cell |
RGD |
PMID:17184496 PMID:17316608 |
RGD:1642807 RGD:1642810 |
NCBI chr 3:49,282,009...49,339,887
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G |
ROCK2 |
Rho associated coiled-coil containing protein kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
|
NCBI chr2A:11,167,353...11,331,339
Ensembl chr2A:11,318,370...11,478,986
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RPS6KB1 |
ribosomal protein S6 kinase B1 |
|
ISO |
protein:increased threonine phosphorylation:heart left ventricle |
RGD |
PMID:16540832 |
RGD:1642998 |
NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653
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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 |
RGD:2311701 |
NCBI chr16:47,236,886...47,240,799
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G |
S100A1 |
S100 calcium binding protein A1 |
|
ISO |
|
RGD |
PMID:12619862 |
RGD:735233 |
NCBI chr 1:128,984,296...128,987,979
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G |
S1PR1 |
sphingosine-1-phosphate receptor 1 |
|
ISO |
|
RGD |
PMID:11549339 |
RGD:1357201 |
NCBI chr 1:103,893,199...103,898,381
Ensembl chr 1:102,608,839...102,609,987
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G |
SHC1 |
SHC adaptor protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19168439 |
|
NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
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G |
SIRT1 |
sirtuin 1 |
treatment |
ISO |
|
RGD |
PMID:25281201 |
RGD:13514043 |
NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
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G |
SIRT4 |
sirtuin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27099261 |
|
NCBI chr12:117,867,453...117,887,968
Ensembl chr12:121,241,112...121,261,777
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G |
SIRT6 |
sirtuin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
RGD CTD |
PMID:22335191 PMID:35798905 |
RGD:9586060 |
NCBI chr19:3,196,092...3,204,602
Ensembl chr19:4,146,057...4,154,126
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G |
SLC25A4 |
solute carrier family 25 member 4 |
treatment |
ISO |
associated with Hypertension |
RGD |
PMID:17210842 |
RGD:9681469 |
NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
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G |
SLC2A4 |
solute carrier family 2 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22221582 |
|
NCBI chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344
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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 chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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G |
SLC8A1 |
solute carrier family 8 member A1 |
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ISO |
associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell protein:increased serine phosphorylation:heart |
RGD |
PMID:15615841 PMID:17446477 |
RGD:1642713 RGD:1642725 |
NCBI chr2A:40,169,339...40,586,546
Ensembl chr2A:40,939,900...41,363,038
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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 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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G |
SOX4 |
SRY-box transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
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NCBI chr 6:21,422,846...21,427,779
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G |
SPP1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:15534078 |
RGD:1581339 |
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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G |
SRC |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18194989 |
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NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634
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G |
SRD5A1 |
steroid 5 alpha-reductase 1 |
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ISO |
mRNA:increased expression:heart left ventricle (human) |
RGD |
PMID:12374776 |
RGD:4891966 |
NCBI chr 5:6,953,795...6,996,010
Ensembl chr 5:6,629,093...6,664,264
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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 6:42,763,099...42,773,332
Ensembl chr 6:44,057,192...44,066,768
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G |
SRI |
sorcin |
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ISO |
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RGD |
PMID:11485922 |
RGD:7327201 |
NCBI chr 7:80,199,719...80,214,733
Ensembl chr 7:93,850,496...93,864,029
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G |
SRSF1 |
serine and arginine rich splicing factor 1 |
treatment |
ISO |
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RGD |
PMID:26619200 |
RGD:401940196 |
NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425
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G |
STAR |
steroidogenic acute regulatory protein |
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ISO |
mRNA:increased expression:cardiac muscle tissue (rat) |
RGD |
PMID:19349910 |
RGD:4145630 |
NCBI chr 8:37,446,334...37,454,102
Ensembl chr 8:34,623,201...34,629,544
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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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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G |
STK11 |
serine/threonine kinase 11 |
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ISO |
protein:decreased expression:heart |
RGD |
PMID:17098823 |
RGD:1601391 |
Ensembl chr19:1,188,537...1,210,677
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G |
STOX1 |
storkhead box 1 |
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ISO |
associated with Pre-Eclampsia; human gene fetally expressed in a mouse model |
RGD |
PMID:26758611 |
RGD:11553897 |
NCBI chr10:65,304,649...65,359,501
Ensembl chr10:67,882,654...67,894,039
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G |
TBX20 |
T-box transcription factor 20 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29394407 |
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NCBI chr 7:35,855,969...35,878,533
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G |
TGFB1 |
transforming growth factor beta 1 |
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ISO |
mRNA, protein:increased expression:heart |
RGD |
PMID:15542404 |
RGD:1581939 |
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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G |
TIMP4 |
TIMP metallopeptidase inhibitor 4 |
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ISO |
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RGD |
PMID:10067796 |
RGD:2290471 |
NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
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G |
TNF |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15302781 PMID:17337591 PMID:18034274 |
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NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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G |
TNNT2 |
troponin T2, cardiac type |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17556660 |
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NCBI chr 1:176,957,298...176,976,033
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G |
TOMM70 |
translocase of outer mitochondrial membrane 70 |
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ISO |
protein:decreased expression:heart protein:decreased expression:left ventricle myocardium |
RGD |
PMID:25022898 |
RGD:13464131 |
NCBI chr 3:97,459,180...97,497,175
Ensembl chr 3:104,139,473...104,178,074
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G |
TRIM44 |
tripartite motif containing 44 |
ameliorates |
ISO |
mRNA,protein:increased expression:heart mRNA:increased expression:heart |
RGD |
PMID:35855640 |
RGD:329961579 |
NCBI chr11:35,633,985...35,782,260
Ensembl chr11:35,508,083...35,656,684
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G |
TRIM63 |
tripartite motif containing 63 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19168726 |
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NCBI chr 1:25,309,949...25,373,658
Ensembl chr 1:26,378,373...26,392,041
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G |
TRPC1 |
transient receptor potential cation channel subfamily C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17174323 |
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NCBI chr 3:139,757,408...139,841,006
Ensembl chr 3:147,349,056...147,432,332
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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ISO |
mRNA:increased expression:heart |
RGD |
PMID:23212367 |
RGD:7247443 |
NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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G |
TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
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ISO |
mRNA:increased expression:heart |
RGD |
PMID:16966582 |
RGD:10003036 |
NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
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G |
UBTF |
upstream binding transcription factor |
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ISO |
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RGD |
PMID:12885411 |
RGD:1580791 |
NCBI chr17:13,176,228...13,191,283
Ensembl chr17:13,343,349...13,356,836
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G |
UCP2 |
uncoupling protein 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25703824 |
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NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
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G |
UGCG |
UDP-glucose ceramide glucosyltransferase |
treatment |
ISO |
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RGD |
PMID:23528973 |
RGD:401793732 |
NCBI chr 9:83,024,602...83,065,017
Ensembl chr 9:111,184,478...111,222,613
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G |
VEGFA |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:12665660 |
RGD:401784499 |
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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G |
VLDLR |
very low density lipoprotein receptor |
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ISO |
associated with Hypertension; mRNA:decreased expression:heart ventricle |
RGD |
PMID:8603509 |
RGD:1625579 |
NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
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G |
YY1 |
YY1 transcription factor |
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ISO |
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RGD |
PMID:15567155 |
RGD:1580832 |
NCBI chr14:80,859,491...80,903,651
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G |
BMP6 |
bone morphogenetic protein 6 |
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ISO |
ClinVar Annotator: match by term: Carvajal syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649
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G |
DSP |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair |
OMIM ClinVar |
PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 PMID:9536098 PMID:9887343 PMID:10594734 PMID:11063735 PMID:11278896 PMID:11841538 PMID:12101406 PMID:12373648 PMID:12802069 PMID:12875771 PMID:15210133 PMID:15941723 PMID:16061754 PMID:16175511 PMID:16199547 PMID:16467215 PMID:16628197 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19095136 PMID:19279339 PMID:19558499 PMID:19597050 PMID:19763152 PMID:19863551 PMID:19924139 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20307669 PMID:20400443 PMID:20435227 PMID:20525856 PMID:20613772 PMID:20716751 PMID:20738328 PMID:20829228 PMID:20857253 PMID:20864495 PMID:20940358 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21756917 PMID:21859740 PMID:22214898 PMID:22216297 PMID:22240500 PMID:22406018 PMID:22454510 PMID:22555271 PMID:22795705 PMID:22949226 PMID:22995991 PMID:23137101 PMID:23292937 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23465283 PMID:23514727 PMID:23524727 PMID:23651034 PMID:23671136 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23891292 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24341478 PMID:24440382 PMID:24448499 PMID:24503780 PMID:24598986 PMID:24704780 PMID:24784157 PMID:24825141 PMID:24938629 PMID:24967631 PMID:24981977 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25225338 PMID:25227139 PMID:25332820 PMID:25344691 PMID:25351510 PMID:25403600 PMID:25447171 PMID:25516398 PMID:25525159 PMID:25550050 PMID:25569433 PMID:25616645 PMID:25637381 PMID:25661095 PMID:25676813 PMID:25691752 PMID:25693453 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:25825460 PMID:25856671 PMID:25936878 PMID:25979592 PMID:26073755 PMID:26099957 PMID:26138720 PMID:26148547 PMID:26187847 PMID:26220970 PMID:26230511 PMID:26265630 PMID:26272908 PMID:26303123 PMID:26314686 PMID:26332594 PMID:26383259 PMID:26399581 PMID:26406308 PMID:26498160 PMID:26569459 PMID:26585738 PMID:26604139 PMID:26606670 PMID:26656175 PMID:26675346 PMID:26688388 PMID:26718681 PMID:26735901 PMID:26743238 PMID:26833927 PMID:26850880 PMID:26899768 PMID:27000522 PMID: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 chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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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 chr 6:7,430,029...7,451,750
Ensembl chr 6:7,712,986...7,734,669
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G |
ACTN2 |
actinin alpha 2 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103
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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 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
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G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
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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 chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135
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G |
CASQ2 |
calsequestrin 2 |
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ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
ClinVar |
PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 PMID:16601229 PMID:16908766 PMID:17576681 PMID:17881003 PMID:18469084 PMID:18543230 PMID:18583715 PMID:18684293 PMID:19398665 PMID:19709828 PMID:20301466 PMID:20353949 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21265816 PMID:21454795 PMID:21618644 PMID:22421959 PMID:22553997 PMID:22650415 PMID:23286974 PMID:23595086 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:24679846 PMID:25163546 PMID:25351510 PMID:25640679 PMID:25651173 PMID:25691538 PMID:25741868 PMID: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 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
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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 chr19:42,779,173...42,791,981
Ensembl chr19:51,316,099...51,329,355
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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 chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
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G |
DSP |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 PMID:33552729 |
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NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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G |
KCNH2 |
potassium voltage-gated channel subfamily H member 2 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
|
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NCBI chr 7:142,528,979...142,562,074
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G |
LAMA4 |
laminin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273
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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 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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G |
LOC100990811 |
fucose-1-phosphate guanylyltransferase |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:73,464,364...73,772,977
Ensembl chr 1:75,403,555...75,747,240
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G |
MAB21L3 |
mab-21 like 3 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:86,432,777...86,457,064
Ensembl chr 1:121,481,357...121,504,841
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|
G |
MT1HL1 |
metallothionein 1H like 1 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,568,334...212,568,824
Ensembl chr 1:217,566,250...217,566,435
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|
G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
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|
G |
MYBPC3 |
myosin binding protein C3 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 |
|
NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
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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 |
|
NCBI chr 1:86,719,650...86,727,607
Ensembl chr 1:121,774,940...121,775,347
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|
G |
RYR2 |
ryanodine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
OMIM ClinVar |
PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 PMID:11078270 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 PMID:12106942 PMID:12169647 PMID:12459180 PMID:12837242 PMID:12919952 PMID:14571276 PMID:15131021 PMID:15175054 PMID:15197150 PMID:15364606 PMID:15364613 PMID:15466642 PMID:15544015 PMID:15721128 PMID:15749201 PMID:15887426 PMID:15890976 PMID:16084945 PMID:16188589 PMID:16199547 PMID:16239587 PMID:16272262 PMID:16339485 PMID:16391617 PMID:16436635 PMID:16517285 PMID:16769042 PMID:16818210 PMID:16825580 PMID:16843546 PMID:16873551 PMID:17062961 PMID:17556193 PMID:17558603 PMID:17576681 PMID:17875969 PMID:17984046 PMID:18092949 PMID:18285261 PMID:18326664 PMID:18483626 PMID:18752142 PMID:18836296 PMID:18849218 PMID:19102802 PMID:19216760 PMID:19226252 PMID:19330009 PMID:19398665 PMID:19541610 PMID:19597050 PMID:19709828 PMID:19781797 PMID:19913485 PMID:19926015 PMID:20080988 PMID:20106799 PMID:20132818 PMID:20157052 PMID:20301466 PMID:20538074 PMID:20646679 PMID:20676041 PMID:20851825 PMID:20961976 PMID:21048710 PMID:21126784 PMID:21292648 PMID:21315846 PMID:21454795 PMID:21478052 PMID:21616285 PMID:21652165 PMID:21659649 PMID:21742998 PMID:21768539 PMID:21954897 PMID:21964171 PMID:22068070 PMID:22174035 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22383456 PMID:22396703 PMID:22515980 PMID:22584458 PMID:22584762 PMID:22677073 PMID:22787013 PMID:22828895 PMID:22956155 PMID:23022705 PMID:23098067 PMID:23152493 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23479668 PMID:23498838 PMID:23549275 PMID:23595086 PMID:23651034 PMID:23671135 PMID:23757202 PMID:23810894 PMID:23820649 PMID:23861362 PMID:23871484 PMID:23934111 PMID:23973953 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24113177 PMID:24136861 PMID:24147812 PMID:24394973 PMID:24447446 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24793461 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25194972 PMID:25351510 PMID:25363768 PMID:25370123 PMID:25372681 PMID:25440180 PMID:25467552 PMID:25500949 PMID:25554238 PMID:25616645 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25713214 PMID:25730765 PMID:25741868 PMID:25775566 PMID:25814417 PMID:25820315 PMID:25835811 PMID:25844899 PMID:25901278 PMID:25925909 PMID:26018045 PMID:26112015 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26220970 PMID:26230511 PMID:26256814 PMID:26272908 PMID:26332594 PMID:26350513 PMID:26383259 PMID:26402605 PMID:26498160 PMID:26569459 PMID:26573135 PMID:26633542 PMID:26636822 PMID:26656175 PMID:26666913 PMID:26688388 PMID:26704558 PMID:26743238 PMID:26771585 PMID:26820365 PMID:26899768 PMID:27054166 PMID:27066507 PMID:27114410 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27251404 PMID:27332903 PMID:27353043 PMID:27435932 PMID:27452199 PMID:27482086 PMID:27532257 PMID:27538377 PMID:27646203 PMID:27650965 PMID:27727376 PMID:27733687 PMID:27756708 PMID:27810088 PMID:27838126 PMID:27854218 PMID:27930701 PMID:28074886 PMID:28087566 PMID:28100344 PMID: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 chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
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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 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
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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 1:86,497,379...86,591,157
Ensembl chr 1:121,547,438...121,628,151
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G |
TPM1 |
tropomyosin 1 |
|
ISO |
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
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G |
TRDN |
triadin |
|
ISO |
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 |
ClinVar |
PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 PMID:21520333 PMID:22422768 PMID:23035052 PMID:24025405 PMID:24033266 PMID:25326635 PMID:25640679 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:27538377 PMID:27848944 PMID:28341588 PMID:28406212 PMID:28492532 PMID:30649896 PMID:30847666 PMID:31437535 PMID:31589614 PMID:31847883 PMID:31980526 PMID:32402482 PMID:32746448 PMID:33432171 PMID:33692971 PMID:33895855 PMID:34415104 PMID:35932045 PMID:36203036 More...
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NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537
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G |
TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
|
|
NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
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G |
VANGL1 |
VANGL planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552
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G |
FLT4 |
fms related receptor tyrosine kinase 4 |
|
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 chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
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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 |
RGD ClinVar |
PMID:12166651 PMID:15034580 PMID:20474083 PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28341588 PMID:28492532 PMID:31983221 PMID:34281161 More...
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RGD:1300328 |
NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
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G |
ABRA |
actin binding Rho activating protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16243910 |
|
NCBI chr 8:103,399,433...103,410,184
Ensembl chr 8:105,546,026...105,556,777
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G |
ACADVL |
acyl-CoA dehydrogenase very long chain |
|
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 chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
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G |
ACE |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:insertion/deletion:intron |
RGD |
PMID:9270088 |
RGD:1566491 |
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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G |
ACTA1 |
actin alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:30354303 PMID:32746448 |
|
NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469
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G |
ACTN2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25224718 PMID:25741868 PMID:26899768 PMID:27287556 PMID:27896284 PMID:28492532 PMID:32931854 PMID:35656879 More...
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NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103
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G |
ADRB1 |
adrenoceptor beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9554809 PMID:18287209 |
RGD:5129132 |
NCBI chr10:110,642,491...110,646,595
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G |
ADRB2 |
adrenoceptor beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11986409 PMID:18287209 |
RGD:5129132 |
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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G |
AFF4 |
ALF transcription elongation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:128,292,700...128,374,511
Ensembl chr 5:134,457,398...134,532,625
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G |
AGT |
angiotensinogen |
treatment no_association |
ISO |
DNA:polymorphisms: :p.T174M, p.M235T (human) |
RGD |
PMID:9270088 PMID:22120037 |
RGD:1566491 RGD:8549486 |
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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G |
AGTR1 |
angiotensin II receptor type 1 |
treatment |
ISO |
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RGD |
PMID:20886512 PMID:22120037 |
RGD:5129198 RGD:8549486 |
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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G |
AGTR2 |
angiotensin II receptor type 2 |
|
ISO |
protein:increased expression:heart mRNA, protein:increased expression:heart left ventricle |
RGD |
PMID:9815151 PMID:22120037 |
RGD:6903900 RGD:8549486 |
NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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G |
AKAP9 |
A-kinase anchoring protein 9 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31418098 |
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NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
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G |
ALDOA |
aldolase, fructose-bisphosphate A |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
|
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G |
ALMS1 |
ALMS1 centrosome and basal body associated protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22447358 |
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NCBI chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139
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G |
ANK2 |
ankyrin 2 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 4 | 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 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
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G |
ANKRD1 |
ankyrin repeat domain 1 |
|
ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18273862 PMID:19525294 PMID:19589340 PMID:19608030 PMID:19608031 PMID:21520333 PMID:22337857 PMID:22388920 PMID:22892539 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25089522 PMID:25741868 PMID:26383259 PMID:27114410 PMID:27143260 PMID:27532257 PMID:28166811 PMID:28492532 PMID:28518168 PMID:28672880 PMID:28794111 PMID:29447731 PMID:30659708 PMID:30847666 PMID:31737537 PMID:31983221 PMID:32880476 PMID:33996946 PMID:35087879 More...
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NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165
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ANKRD37 |
ankyrin repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:177,559,012...177,563,343
Ensembl chr 4:189,776,184...189,780,053
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APOE |
apolipoprotein E |
susceptibility |
ISO |
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RGD |
PMID:16714771 |
RGD:1601240 |
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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ARVCF |
ARVCF delta catenin family member |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr22:2,729,706...2,779,034
Ensembl chr22:18,403,239...18,449,183
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ASPHD1 |
aspartate beta-hydroxylase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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Ensembl chr16:30,268,390...30,273,581
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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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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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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Ensembl chr16:29,265,516...29,290,807 Ensembl chr16:29,265,516...29,290,807
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G |
AXIN2 |
axin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung |
CTD RGD |
PMID:29394407 PMID:33092439 |
RGD:151356921 |
NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
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G |
BAG3 |
BAG cochaperone 3 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:2159883 PMID:21353195 PMID:21459883 PMID:21898660 PMID:22337857 PMID:23861362 PMID:24033266 PMID:24558114 PMID:24623017 PMID:25008357 PMID:25448463 PMID:25728519 PMID:25741868 PMID: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 chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964
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BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:23980359 PMID:26004897 |
RGD:10054117 RGD:13782348 |
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BCKDK |
branched chain keto acid dehydrogenase kinase |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr16:23,856,349...23,860,586
Ensembl chr16:31,476,917...31,483,639
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G |
BCL2 |
BCL2 apoptosis regulator |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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G |
BCL2L1 |
BCL2 like 1 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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G |
BOLA2B |
bolA family member 2B |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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G |
C12H2orf49 |
chromosome 12 C2orf49 homolog |
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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: 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 |
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 chr2A:96,469,934...96,492,745
Ensembl chr2A:106,422,944...106,445,634
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C18H16orf54 |
chromosome 18 C16orf54 homolog |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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Ensembl chr16:30,117,052...30,117,726
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G |
C18H16orf92 |
chromosome 18 C16orf92 homolog |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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Ensembl chr16:30,398,743...30,399,615
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G |
C8H10orf71 |
chromosome 8 C10orf71 homolog |
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ISO |
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MouseDO |
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NCBI chr10:44,916,625...44,945,094
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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G |
CACNB2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
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NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226
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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 chr2B:39,137,777...39,399,007
Ensembl chr2B:156,379,469...156,639,328
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G |
CACNG8 |
calcium voltage-gated channel auxiliary subunit gamma 8 |
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ISO |
mRNA,protein:decreased expression:left ventricule: |
RGD |
PMID:26710323 |
RGD:11353143 |
NCBI chr19:50,899,256...50,920,028
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G |
CALR3 |
calreticulin 3 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29988065 |
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NCBI chr19:15,969,684...15,986,858
Ensembl chr19:16,948,499...16,965,161
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G |
CAP2 |
cyclase associated actin cytoskeleton regulatory protein 2 |
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ISO |
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MouseDO |
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NCBI chr 6:17,248,751...17,411,593
Ensembl chr 6:17,608,046...17,770,160
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G |
CASP3 |
caspase 3 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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G |
CASP8 |
caspase 8 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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G |
CASP9 |
caspase 9 |
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ISO |
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RGD |
PMID:26004897 |
RGD:13782348 |
NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
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G |
CASQ2 |
calsequestrin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:20530761 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
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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 1:9,396,936...9,557,100
Ensembl chr 1:10,622,519...10,677,091
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G |
CAT |
catalase |
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ISO |
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RGD |
PMID:10652196 |
RGD:1581150 |
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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G |
CCDC110 |
coiled-coil domain containing 110 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:177,608,169...177,634,974
Ensembl chr 4:189,824,586...189,850,715
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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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Ensembl chr16:29,320,734...29,327,481
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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 chr12:6,575,104...6,582,127
Ensembl chr12:6,492,119...6,499,427
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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 chr16:24,614,365...24,618,965
Ensembl chr16:30,723,277...30,727,888
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G |
CD36 |
CD36 molecule (CD36 blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10981864 |
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NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
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G |
CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:9495297 |
RGD:13702889 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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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 chr19:5,615,056...5,621,055
Ensembl chr19:6,535,559...6,542,310
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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 chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325
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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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Ensembl chr16:30,227,772...30,233,145
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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 chr13:7,546,922...7,698,079
Ensembl chr13:25,895,705...26,046,120
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G |
CENPF |
centromere protein F |
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ISO |
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MouseDO |
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NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
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G |
CEP85L |
centrosomal protein 85 like |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:12610310 PMID:12639993 PMID:16235537 PMID: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 chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
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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 chr16:24,207,454...24,212,093
Ensembl chr16:31,124,486...31,129,309
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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 chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919
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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 chr 4:177,327,415...177,371,772
Ensembl chr 4:189,546,941...189,589,810
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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 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
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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: 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 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
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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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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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 chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
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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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Ensembl chr16:30,550,383...30,556,196
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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 chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
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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 chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
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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 chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854
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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 chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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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 3:39,038,039...39,050,754
Ensembl chr 3:39,318,438...39,331,228
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G |
CSRP3 |
cysteine and glycine rich protein 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9039266 PMID:12507422 PMID:14567970 PMID:15781201 PMID:16352453 PMID:17084280 PMID:18505755 PMID:20044516 PMID:20474083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26656175 PMID:28492532 More...
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NCBI chr11:19,208,025...19,228,000
Ensembl chr11:19,121,234...19,140,820
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G |
CTF1 |
cardiotrophin 1 |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:11058912 PMID:24033266 PMID:25741868 PMID:26084686 PMID:27149842 PMID:28492532 PMID:34228484 More...
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NCBI chr16:24,065,866...24,072,973
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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 chr10:62,388,454...64,177,116
Ensembl chr10:64,712,576...66,442,238
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G |
CTNNB1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:20376467 PMID:29394407 |
RGD:13524857 |
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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G |
CTSL |
cathepsin L |
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ISO |
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MouseDO |
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NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303
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G |
CXCR3 |
C-X-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:15322218 |
RGD:1598502 |
NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756
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G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
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ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
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G |
CYP2C19 |
cytochrome P450 family 2 subfamily C member 19 |
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ISO |
mRNA,protein:increased expression:blood cells, serum: |
RGD |
PMID:26893848 |
RGD:124713562 |
NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
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G |
DAG1 |
dystroglycan 1 |
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ISO |
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MouseDO |
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NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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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 chr16:24,538,023...24,545,426
Ensembl chr16:30,794,268...30,802,179
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G |
DES |
desmin |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9382102 PMID:9536098 PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 PMID:15800015 PMID:17221859 PMID:17325244 PMID:17439987 PMID:17576681 PMID:17720647 PMID:18061454 PMID:18653338 PMID:19151983 PMID:19181099 PMID:19587455 PMID:19716701 PMID:19763525 PMID:19879535 PMID:20171226 PMID:20423733 PMID:20448486 PMID:20474083 PMID:20696008 PMID:20981092 PMID:22106715 PMID:22153487 PMID:22215463 PMID:22275259 PMID:22337857 PMID:22403400 PMID:22484823 PMID:23143191 PMID:23155419 PMID:23299917 PMID:23349452 PMID:23575897 PMID:23815709 PMID:23861362 PMID:24033266 PMID:24088041 PMID:24503780 PMID:25394388 PMID:25557463 PMID:25590979 PMID:25617006 PMID:25741868 PMID:26097489 PMID:26467025 PMID:26633545 PMID:27393313 PMID:27532257 PMID:27810088 PMID:27854218 PMID:27896284 PMID:28074886 PMID:28256728 PMID:28416588 PMID:28492532 PMID:28611029 PMID:29247119 PMID:29382405 PMID:29386531 PMID:29915097 PMID:29915714 PMID:29926427 PMID:30023281 PMID:30615648 PMID:30847666 PMID:31514951 PMID:31609036 PMID:31912959 PMID:31983221 PMID:32093415 PMID:32150461 PMID:32403337 PMID:33500567 PMID:33823640 PMID:33874732 PMID:34426522 More...
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NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
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G |
DGKD |
diacylglycerol kinase delta |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr2B:120,582,278...120,701,165
Ensembl chr2B:239,525,401...239,611,873
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G |
DICER1 |
dicer 1, ribonuclease III |
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ISO |
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MouseDO |
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NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940
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G |
DMD |
dystrophin |
severity |
ISO |
mRNA, protein:decreased expression:myocardium ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:12359139 PMID:16770791 PMID:19409785 PMID:19937601 PMID:20373002 PMID:21396098 PMID:21969337 PMID:23299917 PMID:23536893 PMID:24033266 PMID:24055113 PMID:25007885 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29188604 PMID:31081998 PMID:32559196 PMID:34103343 PMID:34106991 More...
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RGD:6771365 |
NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733
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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 chr19:52,199,690...52,208,648
Ensembl chr19:60,894,180...60,902,686
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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:143,842,920...143,851,795
Ensembl chr X:153,712,054...153,725,868
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G |
DNM1L |
dynamin 1 like |
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ISO |
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MouseDO |
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NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
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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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Ensembl chr16:30,378,922...30,384,142
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G |
DOLK |
dolichol kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 9:100,067,512...100,069,596
Ensembl chr 9:128,731,747...128,733,363
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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 7:145,356,340...146,492,773
Ensembl chr 7:157,635,828...158,220,345
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G |
DSC2 |
desmocollin 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:205460 PMID:1245073 PMID:20400443 PMID:23514727 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28471438 PMID:28492532 PMID:29178656 PMID:33784018 PMID:35297182 More...
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NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843
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G |
DSG2 |
desmoglein 2 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar 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:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19569224 PMID:20031616 PMID:20603720 PMID:20716751 PMID:20857253 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:23178689 PMID:23299917 PMID:23671136 PMID:23861362 PMID:23889974 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24503780 PMID:24704780 PMID:25059832 PMID:25332820 PMID:25445213 PMID:25637381 PMID:25741868 PMID:25820315 PMID:26220970 PMID:26230511 PMID:27114410 PMID:27532257 PMID:28074886 PMID:28087566 PMID:28323875 PMID:28492532 PMID:28600387 PMID:29016939 PMID:29802319 PMID:30615648 PMID:30885746 PMID:31983221 PMID:34137518 PMID:34998950 More...
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NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
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G |
DSP |
desmoplakin |
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ISO |
ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: 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, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:3198322 PMID:9536098 PMID:10594734 PMID:11063735 PMID:12101406 PMID:12802069 PMID:16061754 PMID:16199547 PMID:16467215 PMID:16774985 PMID:16917092 PMID:17576681 PMID:18382419 PMID:19095136 PMID:19279339 PMID:19558499 PMID: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 More...
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NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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G |
DTNA |
dystrobrevin alpha |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr18:27,706,576...28,116,328
Ensembl chr18:31,524,255...31,705,386
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G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
severity |
ISO |
rat cDNA in mouse model |
RGD |
PMID:27056896 |
RGD:401959209 |
NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987
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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 chr2A:71,495,573...71,730,073
Ensembl chr2A:72,994,888...73,228,846
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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 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909
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G |
EDN1 |
endothelin 1 |
severity |
ISO |
protein:increased expression:aorta, plasma (human) |
RGD |
PMID:10026353 |
RGD:8661756 |
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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G |
EGFR |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18599591 PMID:22646904 |
RGD:7204501 |
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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G |
EGLN1 |
egl-9 family hypoxia inducible factor 1 |
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ISO |
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RGD |
PMID:18096761 |
RGD:11251770 |
NCBI chr 1:206,915,541...206,976,656
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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 chr17:38,631,454...38,657,855
Ensembl chr17:43,331,453...43,357,241
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G |
EMD |
emerin |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr X:143,792,178...143,794,530
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G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
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RGD MouseDO |
PMID:12072561 PMID:15685397 |
RGD:1580988 RGD:734939 |
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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G |
ESRRB |
estrogen related receptor beta |
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ISO |
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MouseDO |
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NCBI chr14:56,868,361...57,060,552
Ensembl chr14:75,839,333...76,266,895
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G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10769282 PMID:15735644 PMID:17567890 PMID:24033266 |
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NCBI chr 6:131,016,143...131,306,251
Ensembl chr 6:135,116,978...135,404,403
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G |
FADS2 |
fatty acid desaturase 2 |
treatment |
ISO |
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RGD |
PMID:24284026 |
RGD:401901245 |
NCBI chr11:57,192,881...57,232,574
Ensembl chr11:60,476,082...60,591,649
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G |
FAS |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:cardiocyte |
CTD RGD |
PMID:16761189 PMID:17943461 |
RGD:1600334 |
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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G |
FASLG |
Fas ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17943461 |
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NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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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 chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
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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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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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 chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711
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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 chr16:24,298,989...24,311,392
Ensembl chr16:31,027,839...31,037,706
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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 chr16:24,020,365...24,046,217
Ensembl chr16:31,290,476...31,315,169
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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: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:9536098 PMID:16199547 PMID: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 chr2A:96,391,513...96,469,267
Ensembl chr2A:106,446,368...106,484,895
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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 chr18:29,550,049...30,033,130
Ensembl chr18:33,165,819...33,590,154
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G |
FKRP |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28688748 More...
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NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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G |
FKTN |
fukutin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:17597323 PMID:25741868 PMID:26633542 PMID:28492532 |
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NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
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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 chr17:32,789,717...32,803,661
Ensembl chr17:37,949,994...37,965,414
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G |
FLNC |
filamin C |
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ISO |
ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related 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, 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 |
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: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 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896
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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 |
|
NCBI chr16:23,775,389...23,786,881
Ensembl chr16:31,551,135...31,562,327
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G |
GAA |
alpha glucosidase |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
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G |
GATA4 |
GATA binding protein 4 |
|
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 chr 8:7,442,921...7,526,731
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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 |
Ensembl chr20:60,148,359...60,158,886
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G |
GATA6 |
GATA binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr18:15,411,764...15,444,402
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G |
GBA2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949
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G |
GCH1 |
GTP cyclohydrolase 1 |
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ISO |
mRNA:decreased expression:endocardium |
RGD |
PMID:15698596 |
RGD:329970287 |
NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393
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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 chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487
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G |
GDPD3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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Ensembl chr16:30,479,684...30,488,868
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G |
GJA1 |
gap junction protein alpha 1 |
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ISO |
protein:decreased expression:heart (rat) |
RGD |
PMID:12619876 PMID:26708424 |
RGD:1582667 RGD:264347602 |
NCBI chr 6:119,213,513...119,227,617
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G |
GNAO1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy |
ClinVar |
PMID:23993195 PMID:25533962 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27068059 PMID:27625011 PMID:27864847 PMID:27916449 PMID:28357411 PMID:28492532 PMID:28688840 PMID:32581362 More...
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NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
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G |
GNB1L |
G protein subunit beta 1 like |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr22:2,542,925...2,616,201
Ensembl chr22:18,222,195...18,289,580
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G |
GPD1L |
glycerol-3-phosphate dehydrogenase 1 like |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172
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G |
GPX1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.P198L (human) |
CTD RGD |
PMID:18940188 |
RGD:2306616 |
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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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 chr19:39,118,330...39,130,768
Ensembl chr19:47,710,197...47,726,948
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G |
GSK3B |
glycogen synthase kinase 3 beta |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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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 chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
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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:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642
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G |
HFE |
homeostatic iron regulator |
susceptibility |
ISO |
|
RGD |
PMID:11040018 |
RGD:1582687 |
NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
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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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Ensembl chr16:30,365,725...30,369,486
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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:90,610,742...90,616,726
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G |
HOPX |
HOP homeobox |
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ISO |
mRNA:decreased expression:left ventricle |
RGD |
PMID:12920479 |
RGD:401793745 |
NCBI chr 4:67,240,801...67,274,419
Ensembl chr 4:73,833,886...73,843,060
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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 chr16:23,979,487...23,984,225
Ensembl chr16:31,352,322...31,356,803
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G |
IGF1 |
insulin like growth factor 1 |
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ISO |
|
RGD |
PMID:11934830 |
RGD:1598419 |
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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G |
IL10 |
interleukin 10 |
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ISO |
mRNA:decreased expression:heart left ventricle |
RGD |
PMID:19242323 |
RGD:2311057 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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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:104,092,993...104,146,062
Ensembl chr X:114,597,077...114,635,253
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G |
ILK |
integrin linked kinase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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NCBI chr11:6,735,735...6,742,922
Ensembl chr11:6,418,717...6,425,788
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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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Ensembl chr16:30,369,610...30,379,198
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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 chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654
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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 chr16:35,164,884...35,168,189
Ensembl chr16:54,272,412...54,275,124
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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 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674
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G |
ITGAL |
integrin subunit alpha L |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr16:24,445,966...24,496,037
Ensembl chr16:30,843,747...30,892,597
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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 chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031
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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:60,564,946...60,569,045
Ensembl chr X:70,620,025...70,624,138
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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 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
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G |
JPH2 |
junctophilin 2 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30384889 PMID:30615648 |
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NCBI chr20:40,439,975...40,517,438
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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: Dilated Cardiomyopathy, Dominant | 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 chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
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G |
KAT8 |
lysine acetyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr16:23,837,540...23,851,376
Ensembl chr16:31,486,098...31,500,185
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G |
KCND3 |
potassium voltage-gated channel subfamily D member 3 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814
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G |
KCNE1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30461122 PMID:35027292 |
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NCBI chr21:20,818,395...20,884,053
Ensembl chr21:34,190,043...34,190,441
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G |
KCNE2 |
potassium voltage-gated channel subfamily E regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
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G |
KCNH2 |
potassium voltage-gated channel subfamily H member 2 |
|
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 7:142,528,979...142,562,074
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G |
KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
|
ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213
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G |
KCTD13 |
potassium channel tetramerization domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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G |
KIF22 |
kinesin family member 22 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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Ensembl chr16:30,161,702...30,177,170
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G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
|
RGD |
PMID:15864294 |
RGD:1581757 |
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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G |
LAMA2 |
laminin subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337
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G |
LAMA4 |
laminin subunit alpha 4 |
|
ISO |
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 chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273
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G |
LAMP2 |
lysosomal associated membrane protein 2 |
|
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:109,700,185...109,743,579
Ensembl chr X:119,886,982...119,929,896
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G |
LAT |
linker for activation of T cells |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
|
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G |
LCK |
LCK proto-oncogene, Src family tyrosine kinase |
|
ISO |
|
RGD |
PMID:17711737 |
RGD:2316557 |
NCBI chr 1:31,560,229...31,572,391
Ensembl chr 1:32,565,739...32,579,923
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G |
LDB3 |
LIM domain binding 3 |
no_association |
ISO |
DNA:missense mutation: :p.D117N (human) ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:9536098 PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:17576681 PMID:19377068 PMID:19412328 PMID:20474083 PMID:20590677 PMID:20852297 PMID:22337857 PMID:22464770 PMID:22619057 PMID:22929165 PMID:22995991 PMID:23299917 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24503780 PMID:24647531 PMID:25041374 PMID:25163546 PMID:25351510 PMID:25616123 PMID:25617006 PMID:25741868 PMID:26419279 PMID:26467025 PMID:26636822 PMID:27435932 PMID:27561770 PMID:27896284 PMID:28166811 PMID:28492532 PMID:29032884 PMID:29255176 PMID:30847666 PMID:31078652 PMID:31333075 PMID:31568572 PMID:31737537 PMID:33500567 PMID:33552729 PMID:34935411 PMID:35087879 PMID:35581137 PMID:36178741 More...
|
RGD:11527732 |
NCBI chr10:83,095,625...83,164,297
Ensembl chr10:86,654,737...86,722,148 Ensembl chr10:86,654,737...86,722,148
|
|
G |
LEF1 |
lymphoid enhancer binding factor 1 |
|
ISO |
|
RGD |
PMID:16738313 |
RGD:11252001 |
NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980
|
|
G |
LEPR |
leptin receptor |
susceptibility |
ISO |
DNA:missense mutation:CDS:p.Q223R (human) |
RGD |
PMID:19337797 |
RGD:2311129 |
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
|
|
G |
LMNA |
lamin A/C |
severity |
ISO |
DNA:missense mutations, deletion:cds:multiple (human) ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, 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: 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: 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: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:262236 PMID:1839274 PMID:2007407 PMID:2270059 PMID:2280636 PMID:2338570 PMID:2526018 PMID:2733290 PMID:2753225 PMID:4740717 PMID:8344919 PMID:8619549 PMID:8621584 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10908904 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102526 PMID:11102973 PMID:11136544 PMID:11138304 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11792810 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12486434 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12714972 PMID:12716787 PMID:12768443 PMID:12783988 PMID:12788894 PMID:12854972 PMID:12920062 PMID:12927424 PMID:12927431 PMID:12938084 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15032975 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15184648 PMID:15219508 PMID:15286156 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15720451 PMID:15724423 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15832002 PMID:15843404 PMID:15965218 PMID:15972724 PMID:15982412 PMID:15998779 PMID:16046620 PMID:16061563 PMID:16126733 PMID:16156025 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16218190 PMID:16266469 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16459536 PMID:16537768 PMID:16584978 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:16738054 PMID:16772334 PMID:16809772 PMID:16825282 PMID:16965317 PMID:16990647 PMID:17076270 PMID:17107595 PMID:17136397 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17386158 PMID:17459035 PMID:17459069 PMID:17469202 PMID:17511383 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17599607 PMID:17612587 PMID:17711925 PMID:17760566 PMID:17848409 PMID:17893350 PMID:17967828 PMID:17987279 PMID:18031519 PMID:18035086 PMID:18035816 PMID:18041775 PMID:18182166 PMID:18337098 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18538321 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18646565 PMID:18714801 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18808171 PMID:18816602 PMID:18926329 PMID:19011997 PMID:19070492 PMID:19084400 PMID:19167105 PMID:19172989 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19328042 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:19882644 PMID:19933576 PMID:20074070 PMID:20127487 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20576434 PMID:20580717 PMID:20590677 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21085127 PMID:21151901 PMID:21173262 PMID:21179469 PMID:21251803 PMID:21315846 PMID:21346069 PMID:21400569 PMID: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 More...
|
RGD:1580515 |
NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
|
|
G |
LMOD2 |
leiomodin 2 |
|
ISO |
|
MouseDO |
|
|
NCBI chr 7:115,649,102...115,657,174
Ensembl chr 7:128,331,803...128,340,263
|
|
G |
LOC100971944 |
BAF chromatin remodeling complex subunit BCL7C |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr16:24,075,296...24,135,637
Ensembl chr16:31,198,675...31,261,837
|
|
G |
LOC100972994 |
HLA class II histocompatibility antigen, DQ beta 1 chain |
|
ISO |
|
RGD |
PMID:9220309 |
RGD:13702906 |
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
|
|
G |
LOC100973061 |
cytochrome c oxidase subunit 7A1, mitochondrial |
|
ISO |
|
MouseDO |
|
|
NCBI chr19:33,069,878...33,071,835
Ensembl chr19:41,817,074...41,819,025
|
|
G |
LOC100976808 |
protein SCO2 homolog, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667
|
|
G |
LOC100976904 |
growth-regulated alpha protein |
|
ISO |
mRNA:increased expression:left ventricle myocardium |
RGD |
PMID:20868517 |
RGD:5134996 |
NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
|
|
G |
LOC100978529 |
myosin-7 |
onset |
ISO |
DNA:missense mutations:exon:p.S532P, p.F764L (human) 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: 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: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:737223 PMID:901918 PMID:1552912 PMID:1739523 PMID:1975599 PMID:2136805 PMID:2753225 PMID:3203908 PMID:7731997 PMID:7883988 PMID:7909436 PMID:8250038 PMID:8335820 PMID:8614836 PMID:8655135 PMID:8981935 PMID:9536098 PMID:9541100 PMID:9884344 PMID:10662815 PMID:10900182 PMID:11106718 PMID:11133230 PMID:12084606 PMID:12379228 PMID:12707239 PMID:12881443 PMID:12951062 PMID:12974739 PMID:12975413 PMID:15001446 PMID:15322983 PMID:15358028 PMID:15556047 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16199547 PMID:16715312 PMID:16754800 PMID:16858239 PMID:16911908 PMID:16983074 PMID:17019812 PMID:17125710 PMID:17192269 PMID:17351073 PMID:17372140 PMID:17495353 PMID:17576681 PMID:17599605 PMID:17947214 PMID:18175163 PMID:18258667 PMID:18365899 PMID:18414213 PMID:18506004 PMID:18519860 PMID:18533079 PMID:18555187 PMID:18660445 PMID:19293840 PMID:19412328 PMID:19477645 PMID:19808347 PMID:19854198 PMID:19864899 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20428263 PMID:20474083 PMID:20530761 PMID:20573160 PMID:20624503 PMID:20733148 PMID:20800588 PMID: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:35626289 PMID:35893073 PMID:36588553 PMID:37240454 PMID:37673932 More...
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RGD:1556469 |
NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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G |
LOC100986730 |
guanine nucleotide-binding protein G(q) subunit alpha |
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ISO |
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RGD MouseDO |
PMID:9811897 |
RGD:1598475 |
NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
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G |
LOC100987752 |
actin alpha cardiac muscle 1 |
susceptibility |
ISO |
DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) 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 ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
RGD ClinVar |
PMID:9563954 PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:22464770 PMID:24033266 PMID:24503780 PMID:24736382 PMID:25201647 PMID:25741868 PMID:27532257 PMID:28416588 PMID:28492532 PMID:30371277 More...
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RGD:1559158 |
NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782
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G |
LOC100990811 |
fucose-1-phosphate guanylyltransferase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:27618451 PMID:28492532 PMID:37199186 PMID:37325914 |
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NCBI chr 1:73,464,364...73,772,977
Ensembl chr 1:75,403,555...75,747,240
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G |
LPL |
lipoprotein lipase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 PMID:32041611 PMID:33303402 |
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NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
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G |
LRP2BP |
LRP2 binding protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:177,529,513...177,545,480
Ensembl chr 4:189,746,497...189,775,621
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G |
LRRC10 |
leucine rich repeat containing 10 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28032242 PMID:28166811 PMID:28492532 |
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NCBI chr12:67,135,114...67,137,929
Ensembl chr12:69,907,049...69,907,882
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G |
LTBP2 |
latent transforming growth factor beta binding protein 2 |
treatment |
ISO |
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RGD |
PMID:31512380 |
RGD:156431214 |
NCBI chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914
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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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
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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 chr15:46,493,139...46,760,271
Ensembl chr15:64,761,394...65,029,655
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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 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468
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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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Ensembl chr16:30,489,362...30,498,017
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G |
MAS1 |
MAS1 proto-oncogene, G protein-coupled receptor |
treatment |
ISO |
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RGD |
PMID:22120037 |
RGD:8549486 |
NCBI chr 6:157,774,098...157,799,983
Ensembl chr 6:162,801,416...162,802,393
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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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Ensembl chr16:30,049,806...30,070,469
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G |
MDM4 |
MDM4 regulator of p53 |
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ISO |
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MouseDO |
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NCBI chr 1:180,117,364...180,151,144
Ensembl chr 1:184,406,124...184,439,344
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G |
MED1 |
mediator complex subunit 1 |
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ISO |
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RGD MouseDO |
PMID:27548259 |
RGD:13513972 |
NCBI chr17:17,836,350...17,883,610
Ensembl chr17:18,050,474...18,095,118
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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 chr15:78,246,439...78,396,720
Ensembl chr15:97,428,744...97,579,092
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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 5:26,480,489...26,650,813
Ensembl chr 5:26,681,700...26,786,426
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G |
MFN1 |
mitofusin 1 |
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ISO |
with Mfn2 knockout |
RGD |
PMID:22052916 |
RGD:11251967 |
NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
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G |
MFN2 |
mitofusin 2 |
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ISO |
with Mfn1 knockout |
RGD |
PMID:22052916 |
RGD:11251967 |
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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G |
MMP1 |
matrix metallopeptidase 1 |
severity |
ISO |
mRNA:increased expression:myocardium (human) |
RGD |
PMID:12167381 PMID:17178334 |
RGD:1582541 RGD:4890382 |
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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G |
MMP13 |
matrix metallopeptidase 13 |
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ISO |
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RGD |
PMID:16037568 |
RGD:1582576 |
NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
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G |
MMP14 |
matrix metallopeptidase 14 |
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ISO |
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RGD |
PMID:11034943 PMID:16037568 |
RGD:1582576 RGD:1582586 |
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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G |
MMP2 |
matrix metallopeptidase 2 |
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ISO |
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RGD |
PMID:11034943 PMID:16037568 |
RGD:1582576 RGD:1582586 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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G |
MRGPRD |
MAS related GPR family member D |
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ISO |
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MouseDO |
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NCBI chr11:64,069,508...64,070,765
Ensembl chr11:67,370,432...67,371,397
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G |
MTIF3 |
mitochondrial translational initiation factor 3 |
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ISO |
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MouseDO |
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NCBI chr13:8,724,773...8,739,761
Ensembl chr13:27,070,048...27,076,402
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G |
MTPN |
myotrophin |
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ISO |
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RGD |
PMID:8508536 |
RGD:1581048 |
NCBI chr 7:127,896,148...127,947,122
Ensembl chr 7:140,392,620...140,443,591
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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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Ensembl chr16:30,190,090...30,219,070
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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 chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
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G |
MYH6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 PMID:22194935 PMID:22361390 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24119082 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:27194543 PMID:27532257 PMID:27788187 PMID:27789736 PMID:28082330 PMID:28088328 PMID:28166811 PMID:28416588 PMID:28492532 PMID:28750076 PMID:29420653 PMID:29687901 PMID:29875424 PMID:30847666 PMID:31513939 PMID:31514951 PMID:31737537 PMID:32880476 PMID:33500567 PMID:33658040 PMID:34930662 PMID:35456442 PMID:36890431 More...
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NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
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MYL11 |
myosin light chain 11 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr16:24,591,731...24,598,807
Ensembl chr16:30,747,060...30,751,165
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MYL2 |
myosin light chain 2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 PMID:23343568 PMID:23396983 PMID:24033266 PMID:24055113 PMID:24111713 PMID:25524337 PMID:25637381 PMID:25741868 PMID:27483260 PMID:27532257 PMID:27600940 PMID:28492532 PMID:28750076 PMID:28771489 PMID:28855170 PMID:29253866 PMID:30403391 PMID:31019283 PMID:31323898 PMID:31771554 PMID:33495596 PMID:33495597 PMID:33732734 PMID:34935411 PMID:35026164 More...
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NCBI chr12:108,479,941...108,489,739
Ensembl chr12:111,873,270...111,883,047
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MYOCD |
myocardin |
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ISO |
mRNA:increased expression:left ventricle mRNA:increased expression:heart |
MouseDO RGD |
PMID:12920479 |
RGD:401793745 |
NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659
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MYOM1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
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MYPN |
myopalladin |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:18006477 PMID:20801532 PMID:22286171 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26383259 PMID:26498160 PMID:26899768 PMID:27194543 PMID:27884173 PMID:27896284 PMID:28416588 PMID:28492532 PMID:30012837 PMID:30764827 PMID:30847666 PMID:31333075 PMID:31524317 PMID:31568572 PMID:31983221 PMID:32826072 PMID:32880476 PMID:33049752 PMID:34797172 PMID:35581137 PMID:36178741 PMID:36935760 PMID:37904629 PMID:37936622 More...
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NCBI chr10:64,590,232...64,696,512
Ensembl chr10:66,902,008...67,004,967
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MYZAP |
myocardial zonula adherens protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:35840178 |
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NCBI chr15:36,560,355...36,653,881
Ensembl chr15:54,873,644...54,997,202
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NCAPH2 |
non-SMC condensin II complex subunit H2 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:10545952 PMID:15210538 PMID:19879173 PMID:20159436 PMID:25741868 PMID:28492532 More...
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NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027
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NCOA6 |
nuclear receptor coactivator 6 |
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ISO |
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MouseDO |
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NCBI chr20:31,044,339...31,154,798
Ensembl chr20:32,170,583...32,247,167
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NEBL |
nebulette |
susceptibility |
ISO |
DNA:missense mutation:cds:p.N654K (human) ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: 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: 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, 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 |
RGD ClinVar |
PMID:9536098 PMID:11140941 PMID:16199547 PMID:17576681 PMID:20951326 PMID:23632046 PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 PMID:28166811 PMID:28492532 PMID:28750076 PMID:29247119 PMID:29544605 PMID:29915097 PMID:30165862 PMID:30206291 PMID:31737537 PMID:32746448 PMID:33762593 PMID:36303204 More...
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RGD:1581084 |
NCBI chr10:20,941,514...21,336,931
Ensembl chr10:21,244,693...21,632,236
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NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:28701297 |
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NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
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NEXN |
nexilin F-actin binding protein |
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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: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25741868 PMID:26383259 PMID:26659360 PMID:27532257 PMID:28008423 PMID:28333919 PMID:28492532 PMID:28991257 PMID:29253866 PMID:29961767 PMID:30012837 PMID:30354306 PMID:30847666 PMID:31028938 PMID:31333075 PMID:31568572 PMID:31983221 PMID:32058062 PMID:32635769 PMID:32814711 PMID:32870709 PMID:32880476 PMID:33949776 PMID:34363016 PMID:35166435 PMID:35581137 More...
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NCBI chr 1:77,104,269...77,162,517
Ensembl chr 1:79,187,779...79,244,732
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NFATC2IP |
nuclear factor of activated T cells 2 interacting protein |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NFATC4 |
nuclear factor of activated T cells 4 |
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ISO |
DNA:missense mutation:cds:p.G160A (human) |
RGD |
PMID:12939651 |
RGD:1580248 |
NCBI chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249
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NKX2-5 |
NK2 homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
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NOS2 |
nitric oxide synthase 2 |
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ISO |
mRNA:increased expression:endocardium |
RGD |
PMID:15698596 |
RGD:329970287 |
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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NPPA |
natriuretic peptide A |
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ISO |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:heart (human) |
CTD RGD |
PMID:11986409 PMID:16762803 PMID:24275554 |
RGD:11252017 |
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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NPPB |
natriuretic peptide B |
ameliorates |
ISO |
protein:increased expression:serum mRNA,protein:increased expression:heart (human) CTD Direct Evidence: marker/mechanism|therapeutic |
RGD CTD |
PMID:16762803 PMID:18068619 PMID:18628775 PMID:24275554 |
RGD:11252017 RGD:2324684 |
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
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NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
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ISO |
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MouseDO |
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NCBI chr15:75,008,879...75,021,981
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NR3C2 |
nuclear receptor subfamily 3 group C member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21321305 |
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NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
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NRAP |
nebulin related anchoring protein |
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ISO |
ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr10:110,182,003...110,257,033
Ensembl chr10:113,616,188...113,690,926
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NTRK3 |
neurotrophic receptor tyrosine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal cardiomyopathy |
ClinVar |
PMID:25741868 |
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NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204
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OBSCN |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
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ISO |
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RGD |
PMID:15345656 |
RGD:1580779 |
NCBI chr 1:203,605,558...203,781,491
Ensembl chr 1:208,825,607...208,992,246
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ORAI3 |
ORAI calcium release-activated calcium modulator 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr16:24,014,018...24,019,889
Ensembl chr16:31,314,922...31,323,320
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PAGR1 |
PAXIP1 associated glutamate rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant |
ClinVar |
PMID:28492532 |
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Ensembl chr16:30,186,326...30,190,654
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PDCD1 |
programmed cell death 1 |
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ISO |
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MouseDO RGD |
PMID:14595408 |
RGD:9589058 |
NCBI chr12:130,849,353...130,858,776
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PDE9A |
phosphodiesterase 9A |
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ISO |
protein:increased expression:heart |
RGD |
PMID:25799991 |
RGD:240550109 |
NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
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PDLIM3 |
PDZ and LIM domain 3 |
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ISO |
ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy |
ClinVar |
PMID:953 | |