ONTOLOGY REPORT - ANNOTATIONS |
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Term: | cardiac muscle contraction |
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Accession: | GO:0060048
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browse the term
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Definition: | Muscle contraction of cardiac muscle tissue. |
Synonyms: | exact_synonym: | heart muscle contraction |
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G
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ACTC1
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actin alpha cardiac muscle 1
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involved_in
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ISO IEA
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RGD Ensembl |
PMID:14551059 |
GO_REF:0000107 RGD:1600569 |
NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
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G
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ANK2
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ankyrin 2
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acts_upstream_of_or_within
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ISO
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(PMID:15262991)
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MGI |
PMID:15262991 |
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NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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G
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ATP1A2
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ATPase Na+/K+ transporting subunit alpha 2
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involved_in
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TAS
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(PMID:23224879)
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BHF-UCL |
PMID:23224879 |
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NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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G
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ATP1A3
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ATPase Na+/K+ transporting subunit alpha 3
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involved_in
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ISO
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(PMID:19376779)
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BHF-UCL |
PMID:19376779 |
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NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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G
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ATP1B1
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ATPase Na+/K+ transporting subunit beta 1
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involved_in
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ISS IEA
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BHF-UCL Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
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G
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CAMK2D
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calcium/calmodulin dependent protein kinase II delta
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acts_upstream_of_or_within
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ISO
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(PMID:15652482)
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MGI |
PMID:15652482 |
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NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
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G
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CASQ2
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calsequestrin 2
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involved_in
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IMP
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(PMID:16908766)
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BHF-UCL |
PMID:16908766 |
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NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
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G
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CSRP3
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cysteine and glycine rich protein 3
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involved_in
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IMP IBA IEA
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(PMID:12507422)
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BHF-UCL GO_Central Ensembl |
PMID:12507422 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
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G
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CXCR4
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C-X-C motif chemokine receptor 4
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ISO
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RGD |
PMID:17010372 |
RGD:1600772 |
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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G
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DMD
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dystrophin
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involved_in
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IMP
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(PMID:19027585)
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BHF-UCL |
PMID:19027585 |
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NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
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G
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GAA
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alpha glucosidase
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involved_in
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IMP
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(PMID:10931430)
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BHF-UCL |
PMID:10931430 |
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NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
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G
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GRK2
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G protein-coupled receptor kinase 2
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involved_in
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IMP
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(PMID:15051637)
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BHF-UCL |
PMID:15051637 |
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NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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G
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KCNE5
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potassium voltage-gated channel subfamily E regulatory subunit 5
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involved_in
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IMP
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(PMID:18313602)
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BHF-UCL |
PMID:18313602 |
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NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172
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G
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KCNH2
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potassium voltage-gated channel subfamily H member 2
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involved_in
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IMP
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(PMID:21536673)
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BHF-UCL |
PMID:21536673 |
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NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
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G
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KCNQ1
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potassium voltage-gated channel subfamily Q member 1
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involved_in
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IEA IMP
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(PMID:8528244)
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Ensembl BHF-UCL |
PMID:8528244 |
GO_REF:0000107 |
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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G
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MAP2K3
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mitogen-activated protein kinase kinase 3
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr17:21,284,711...21,315,240
Ensembl chr17:21,284,672...21,315,232
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G
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MAP2K6
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mitogen-activated protein kinase kinase 6
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr17:69,414,697...69,553,865
Ensembl chr17:69,414,697...69,553,865
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G
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MET
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MET proto-oncogene, receptor tyrosine kinase
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acts_upstream_of_or_within
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ISO
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(PMID:23994610)
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MGI |
PMID:23994610 |
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NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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G
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MTOR
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mechanistic target of rapamycin kinase
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G
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MYBPC3
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myosin binding protein C3
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involved_in acts_upstream_of_or_within
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ISS ISO
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(PMID:16380103) (PMID:16224063)
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BHF-UCL MGI |
PMID:16224063 PMID:16380103 |
GO_REF:0000024 |
NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
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G
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MYH6
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myosin heavy chain 6
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involved_in
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ISS IEA
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(PMID:9884344)
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BHF-UCL Ensembl |
PMID:9884344 |
GO_REF:0000107 |
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
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G
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MYH7
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myosin heavy chain 7
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involved_in
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IMP IBA
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(PMID:7883988)
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BHF-UCL GO_Central |
PMID:7883988 |
GO_REF:0000033 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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G
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MYL1
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myosin light chain 1
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ISO
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RGD |
PMID:9409484 |
RGD:1600167 |
NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174
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G
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MYL2
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myosin light chain 2
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acts_upstream_of_or_within involved_in
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ISO IEA IBA
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RGD Ensembl GO_Central |
PMID:9409484 PMID:11448842 PMID:12002261 |
GO_REF:0000033 GO_REF:0000107 RGD:1600167 RGD:1600170 RGD:1600178 |
NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434
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G
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MYL3
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myosin light chain 3
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involved_in
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ISO IEA IMP
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(PMID:16675844)
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RGD Ensembl BHF-UCL |
PMID:2044768 PMID:14659803 PMID:16675844 |
GO_REF:0000107 RGD:1598726 RGD:1600304 |
NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178
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G
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MYL4
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myosin light chain 4
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involved_in
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IMP IBA
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(PMID:14985854), (PMID:16675844)
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BHF-UCL GO_Central |
PMID:14985854 PMID:16675844 |
GO_REF:0000033 |
NCBI chr17:47,189,433...47,227,650
Ensembl chr17:47,200,446...47,223,679
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G
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MYLK2
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myosin light chain kinase 2
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involved_in
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IC
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(PMID:16448786)
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BHF-UCL |
PMID:16448786 |
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NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689
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G
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NKX2-5
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NK2 homeobox 5
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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G
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PIK3CA
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phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
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involved_in
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TAS
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(PMID:19147653)
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UniProt |
PMID:19147653 |
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G
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PPP1R13L
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protein phosphatase 1 regulatory subunit 13 like
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349
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G
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PSEN2
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presenilin 2
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acts_upstream_of_or_within
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ISO
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(PMID:16204356)
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MGI |
PMID:16204356 |
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NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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G
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RYR2
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ryanodine receptor 2
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involved_in
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IMP
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(PMID:10830164)
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BHF-UCL |
PMID:10830164 |
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NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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G
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SCN1B
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sodium voltage-gated channel beta subunit 1
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involved_in
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IMP
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(PMID:19808477)
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BHF-UCL |
PMID:19808477 |
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NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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G
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SCN2B
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sodium voltage-gated channel beta subunit 2
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involved_in
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IMP
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(PMID:19808477)
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BHF-UCL |
PMID:19808477 |
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NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639
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G
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SCN3B
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sodium voltage-gated channel beta subunit 3
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involved_in
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IMP
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(PMID:20042427), (PMID:21051419)
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BHF-UCL |
PMID:20042427 PMID:21051419 |
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NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
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G
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SCN4B
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sodium voltage-gated channel beta subunit 4
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involved_in
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IMP
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(PMID:17592081)
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BHF-UCL |
PMID:17592081 |
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NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
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G
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SCN5A
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sodium voltage-gated channel alpha subunit 5
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involved_in
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IMP
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(PMID:18065446), (PMID:21895525), (PMID:22529811)
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BHF-UCL |
PMID:18065446 PMID:21895525 PMID:22529811 |
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NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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G
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SGCD
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sarcoglycan delta
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788
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G
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SLC8A1
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solute carrier family 8 member A1
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involved_in acts_upstream_of_or_within
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TAS ISO
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(PMID:23224879) (PMID:15308581)
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BHF-UCL MGI |
PMID:15308581 PMID:23224879 |
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NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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G
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SMAD5
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SMAD family member 5
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 5:136,132,845...136,182,733
Ensembl chr 5:136,132,845...136,188,747
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G
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SRSF1
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serine and arginine rich splicing factor 1
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346
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G
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TCAP
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titin-cap
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involved_in
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IMP NAS IBA
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(PMID:12507422), (PMID:15582318) (PMID:16407954)
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BHF-UCL ComplexPortal GO_Central |
PMID:12507422 PMID:15582318 PMID:16407954 |
GO_REF:0000033 |
NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
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G
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TNNC1
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troponin C1, slow skeletal and cardiac type
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involved_in
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ISO IEA NAS IBA IMP IDA
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(PMID:12840750) (PMID:15542288) (PMID:25771144)
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RGD Ensembl ComplexPortal GO_Central BHF-UCL CAFA |
PMID:9409484 PMID:12840750 PMID:15542288 PMID:25771144 |
GO_REF:0000033 GO_REF:0000107 RGD:1600167 |
NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041
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G
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TNNI1
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troponin I1, slow skeletal type
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involved_in
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IBA
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GO_Central |
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GO_REF:0000033 |
NCBI chr 1:201,403,784...201,421,730
Ensembl chr 1:201,403,784...201,429,866
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G
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TNNI2
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troponin I2, fast skeletal type
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involved_in
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IBA
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GO_Central |
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GO_REF:0000033 |
NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
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G
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TNNI3
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troponin I3, cardiac type
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involved_in
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ISO NAS IBA IMP IEA
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(PMID:12840750) (PMID:11735257)
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RGD ComplexPortal GO_Central UniProt Ensembl |
PMID:9409484 PMID:11448842 PMID:11735257 PMID:12840750 PMID:14551059 |
GO_REF:0000033 GO_REF:0000107 RGD:1600167 RGD:1600178 RGD:1600569 |
NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
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G
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TNNT2
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troponin T2, cardiac type
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involved_in
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ISO NAS IBA IDA
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(PMID:12840750) (PMID:25771144)
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RGD ComplexPortal GO_Central CAFA |
PMID:11448842 PMID:12840750 PMID:25771144 |
GO_REF:0000033 RGD:1600178 |
NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
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G
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TPM1
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tropomyosin 1
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involved_in
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ISO IBA IMP
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(PMID:11136687)
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RGD GO_Central BHF-UCL |
PMID:11136687 PMID:14551059 |
GO_REF:0000033 RGD:1600569 |
NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915
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G
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TTN
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titin
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involved_in
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IMP NAS
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(PMID:11846417) (PMID:16407954)
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BHF-UCL ComplexPortal |
PMID:11846417 PMID:16407954 |
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NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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G
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VEGFB
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vascular endothelial growth factor B
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr11:64,234,584...64,239,264
Ensembl chr11:64,234,584...64,239,264
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G
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ZFAS1
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ZNFX1 antisense RNA 1
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acts_upstream_of_or_within
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ISO
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(PMID:29475982)
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MGI |
PMID:29475982 |
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NCBI chr20:49,278,178...49,289,260
Ensembl chr20:49,277,054...49,299,600
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G
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ANK2
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ankyrin 2
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involved_in
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IMP
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(PMID:17242276), (PMID:18832177), (PMID:21859974)
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BHF-UCL |
PMID:17242276 PMID:18832177 PMID:21859974 |
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NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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G
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GJA1
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gap junction protein alpha 1
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involved_in
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TAS
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(PMID:23348765)
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BHF-UCL |
PMID:23348765 |
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NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G
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GJC1
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gap junction protein gamma 1
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involved_in
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TAS
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(PMID:23348765)
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BHF-UCL |
PMID:23348765 |
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NCBI chr17:44,794,104...44,831,364
Ensembl chr17:44,798,448...44,830,816
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G
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KCNA5
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potassium voltage-gated channel subfamily A member 5
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involved_in
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IMP IDA
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(PMID:19343045), (PMID:23264583) (PMID:18281375)
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BHF-UCL |
PMID:18281375 PMID:19343045 PMID:23264583 |
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NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
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G
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KCNE5
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potassium voltage-gated channel subfamily E regulatory subunit 5
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involved_in
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IMP
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(PMID:18313602)
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BHF-UCL |
PMID:18313602 |
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NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172
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G
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KCNQ1
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potassium voltage-gated channel subfamily Q member 1
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involved_in
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IMP
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(PMID:12522251)
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BHF-UCL |
PMID:12522251 |
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NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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G
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NUP155
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nucleoporin 155
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 5:37,288,137...37,371,106
Ensembl chr 5:37,288,137...37,371,124
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G
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SCN3B
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sodium voltage-gated channel beta subunit 3
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involved_in
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IMP
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(PMID:21051419)
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BHF-UCL |
PMID:21051419 |
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NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
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G
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SCN5A
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sodium voltage-gated channel alpha subunit 5
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involved_in
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IMP
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(PMID:18065446)
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BHF-UCL |
PMID:18065446 |
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NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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G
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ATP1A1
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ATPase Na+/K+ transporting subunit alpha 1
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involved_in
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TAS
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(PMID:23224879)
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BHF-UCL |
PMID:23224879 |
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NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
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G
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CACNA1C
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calcium voltage-gated channel subunit alpha1 C
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involved_in
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IMP
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(PMID:15454078)
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BHF-UCL |
PMID:15454078 |
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NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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G
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CACNA1D
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calcium voltage-gated channel subunit alpha1 D
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involved_in
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IMP
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(PMID:21131953)
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BHF-UCL |
PMID:21131953 |
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NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
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G
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CACNA1G
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calcium voltage-gated channel subunit alpha1 G
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involved_in
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ISS
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BHF-UCL |
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GO_REF:0000024 |
NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474
|
|
G
|
CACNA2D1
|
calcium voltage-gated channel auxiliary subunit alpha2delta 1
|
involved_in
|
IMP
|
(PMID:25527503)
|
BHF-UCL |
PMID:25527503 |
|
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
|
|
G
|
FGF12
|
fibroblast growth factor 12
|
involved_in
|
NAS
|
(PMID:12401812)
|
BHF-UCL |
PMID:12401812 |
|
NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
|
|
G
|
KCNE1
|
potassium voltage-gated channel subfamily E regulatory subunit 1
|
involved_in
|
IMP
|
(PMID:10400998)
|
BHF-UCL |
PMID:10400998 |
|
NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
|
|
G
|
KCNE2
|
potassium voltage-gated channel subfamily E regulatory subunit 2
|
involved_in
|
IMP
|
(PMID:10219239)
|
BHF-UCL |
PMID:10219239 |
|
NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381
|
|
G
|
KCNJ2
|
potassium inwardly rectifying channel subfamily J member 2
|
involved_in
|
IMP
|
(PMID:11371347)
|
BHF-UCL |
PMID:11371347 |
|
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
|
|
G
|
PKP2
|
plakophilin 2
|
involved_in
|
IMP
|
(PMID:22889254)
|
BHF-UCL |
PMID:22889254 |
|
NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
|
|
G
|
SCN10A
|
sodium voltage-gated channel alpha subunit 10
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
|
|
G
|
SCN11A
|
sodium voltage-gated channel alpha subunit 11
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 3:38,845,764...39,051,944
Ensembl chr 3:38,845,764...39,052,157
|
|
G
|
SCN1A
|
sodium voltage-gated channel alpha subunit 1
|
involved_in
|
IMP IBA
|
(PMID:27207958)
|
BHF-UCL GO_Central |
PMID:27207958 |
GO_REF:0000033 |
NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
|
|
G
|
SCN1B
|
sodium voltage-gated channel beta subunit 1
|
involved_in
|
IMP IBA
|
(PMID:19808477)
|
BHF-UCL GO_Central |
PMID:19808477 |
GO_REF:0000033 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
|
|
G
|
SCN2A
|
sodium voltage-gated channel alpha subunit 2
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
|
|
G
|
SCN2B
|
sodium voltage-gated channel beta subunit 2
|
involved_in
|
IMP IBA
|
(PMID:19808477)
|
BHF-UCL GO_Central |
PMID:19808477 |
GO_REF:0000033 |
NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639
|
|
G
|
SCN3A
|
sodium voltage-gated channel alpha subunit 3
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
|
|
G
|
SCN3B
|
sodium voltage-gated channel beta subunit 3
|
involved_in
|
IMP
|
(PMID:21051419)
|
BHF-UCL |
PMID:21051419 |
|
NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
|
|
G
|
SCN4A
|
sodium voltage-gated channel alpha subunit 4
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
|
|
G
|
SCN4B
|
sodium voltage-gated channel beta subunit 4
|
involved_in
|
IMP IBA
|
(PMID:17592081)
|
BHF-UCL GO_Central |
PMID:17592081 |
GO_REF:0000033 |
NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
|
|
G
|
SCN5A
|
sodium voltage-gated channel alpha subunit 5
|
involved_in
|
IMP IBA
|
(PMID:21895525)
|
BHF-UCL GO_Central |
PMID:21895525 |
GO_REF:0000033 |
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
|
|
G
|
SCN7A
|
sodium voltage-gated channel alpha subunit 7
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 2:166,403,573...166,494,249
Ensembl chr 2:166,403,573...166,611,482
|
|
G
|
SCN8A
|
sodium voltage-gated channel alpha subunit 8
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
|
|
G
|
SCN9A
|
sodium voltage-gated channel alpha subunit 9
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
|
|
|
G
|
ABCC9
|
ATP binding cassette subfamily C member 9
|
acts_upstream_of_or_within_positive_effect
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
|
|
G
|
C10orf71
|
chromosome 10 open reading frame 71
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr10:49,297,050...49,327,492
Ensembl chr10:49,299,170...49,327,492
|
|
G
|
CAMK2D
|
calcium/calmodulin dependent protein kinase II delta
|
involved_in
|
ISS
|
(PMID:12676814)
|
BHF-UCL |
PMID:12676814 |
|
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
|
|
G
|
GSN
|
gelsolin
|
involved_in
|
ISS IEA
|
(PMID:30568254)
|
BHF-UCL Ensembl |
PMID:30568254 |
GO_REF:0000107 |
NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
|
|
G
|
KCNE1
|
potassium voltage-gated channel subfamily E regulatory subunit 1
|
involved_in
|
NAS
|
(PMID:31834838)
|
ComplexPortal |
PMID:31834838 |
|
NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
|
|
G
|
KCNQ1
|
potassium voltage-gated channel subfamily Q member 1
|
involved_in
|
NAS
|
(PMID:31834838)
|
ComplexPortal |
PMID:31834838 |
|
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
|
|
G
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
|
involved_in
|
ISS IEA
|
|
BHF-UCL Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
|
|
G
|
SGCD
|
sarcoglycan delta
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788
|
|
G
|
SLC9A1
|
solute carrier family 9 member A1
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:20868366 |
GO_REF:0000107 RGD:7349316 |
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
|
|
G
|
TNNC1
|
troponin C1, slow skeletal and cardiac type
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041
|
|
G
|
UTY
|
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
|
acts_upstream_of_or_within
|
ISO
|
(PMID:22192413)
|
MGI |
PMID:22192413 |
|
NCBI chr Y:13,233,895...13,480,670
Ensembl chr Y:13,234,577...13,480,673
|
|
|
G
|
CACNA1C
|
calcium voltage-gated channel subunit alpha1 C
|
involved_in
|
IMP
|
(PMID:17224476)
|
BHF-UCL |
PMID:17224476 |
|
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
|
|
G
|
CACNB2
|
calcium voltage-gated channel auxiliary subunit beta 2
|
involved_in
|
IMP
|
(PMID:17224476)
|
BHF-UCL |
PMID:17224476 |
|
NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
|
|
G
|
SCN5A
|
sodium voltage-gated channel alpha subunit 5
|
involved_in
|
IMP
|
(PMID:18065446)
|
BHF-UCL |
PMID:18065446 |
|
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
|
|
|
G
|
KCNA5
|
potassium voltage-gated channel subfamily A member 5
|
involved_in
|
IMP
|
(PMID:19343045), (PMID:23264583)
|
BHF-UCL |
PMID:19343045 PMID:23264583 |
|
NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
|
|
G
|
KCNJ3
|
potassium inwardly rectifying channel subfamily J member 3
|
involved_in
|
IC
|
(PMID:20560207)
|
BHF-UCL |
PMID:20560207 |
|
NCBI chr 2:154,698,695...154,858,354
Ensembl chr 2:154,697,855...154,858,354
|
|
G
|
KCNJ5
|
potassium inwardly rectifying channel subfamily J member 5
|
involved_in
|
IMP
|
(PMID:20560207)
|
BHF-UCL |
PMID:20560207 |
|
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
|
|
G
|
KCNN2
|
potassium calcium-activated channel subfamily N member 2
|
involved_in
|
ISS
|
(PMID:19139040)
|
BHF-UCL |
PMID:19139040 |
|
NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500
|
|
G
|
KCNQ1
|
potassium voltage-gated channel subfamily Q member 1
|
involved_in
|
IMP
|
(PMID:12522251), (PMID:25786344)
|
BHF-UCL |
PMID:12522251 PMID:25786344 |
|
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
|
|
|
G
|
DLG1
|
discs large MAGUK scaffold protein 1
|
involved_in
|
ISS IEA
|
(PMID:25447080)
|
BHF-UCL Ensembl |
PMID:25447080 |
GO_REF:0000107 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
|
|
G
|
KCND3
|
potassium voltage-gated channel subfamily D member 3
|
involved_in
|
IEA
|
|
GOC |
|
GO_REF:0000108 |
NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668
|
|
G
|
KCNE1
|
potassium voltage-gated channel subfamily E regulatory subunit 1
|
involved_in
|
IMP
|
(PMID:9354802)
|
BHF-UCL |
PMID:9354802 |
|
NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
|
|
G
|
KCNE2
|
potassium voltage-gated channel subfamily E regulatory subunit 2
|
involved_in
|
IMP
|
(PMID:10219239)
|
BHF-UCL |
PMID:10219239 |
|
NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381
|
|
G
|
KCNE3
|
potassium voltage-gated channel subfamily E regulatory subunit 3
|
involved_in
|
IEA
|
|
GOC |
|
GO_REF:0000108 |
NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
|
|
G
|
KCNE4
|
potassium voltage-gated channel subfamily E regulatory subunit 4
|
involved_in
|
IEA
|
|
GOC |
|
GO_REF:0000108 |
NCBI chr 2:223,052,190...223,055,637
Ensembl chr 2:223,052,190...223,198,399
|
|
G
|
KCNE5
|
potassium voltage-gated channel subfamily E regulatory subunit 5
|
involved_in
|
IEA
|
|
GOC |
|
GO_REF:0000108 |
NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172
|
|
G
|
KCNH2
|
potassium voltage-gated channel subfamily H member 2
|
involved_in
|
IMP
|
(PMID:21536673)
|
BHF-UCL |
PMID:21536673 |
|
NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
|
|
G
|
KCNJ3
|
potassium inwardly rectifying channel subfamily J member 3
|
involved_in
|
IEA
|
|
GOC |
|
GO_REF:0000108 |
NCBI chr 2:154,698,695...154,858,354
Ensembl chr 2:154,697,855...154,858,354
|
|
G
|
KCNJ5
|
potassium inwardly rectifying channel subfamily J member 5
|
involved_in
|
IEA
|
|
GOC |
|
GO_REF:0000108 |
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
|
|
G
|
KCNJ8
|
potassium inwardly rectifying channel subfamily J member 8
|
involved_in
|
IMP
|
(PMID:20558321)
|
BHF-UCL |
PMID:20558321 |
|
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
|
|
G
|
KCNQ1
|
potassium voltage-gated channel subfamily Q member 1
|
involved_in acts_upstream_of_or_within
|
IMP IEA IBA
|
(PMID:8528244)
|
BHF-UCL Ensembl GO_Central |
PMID:8528244 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
|
|
G
|
SCN2B
|
sodium voltage-gated channel beta subunit 2
|
involved_in
|
IEA
|
|
GOC |
|
GO_REF:0000108 |
NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639
|
|
|
G
|
ADCY10
|
adenylate cyclase 10
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:31754830 |
GO_REF:0000107 RGD:329403060 |
NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215
|
|
|
G
|
MIR30E
|
microRNA 30e
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 1:40,754,355...40,754,446
Ensembl chr 1:40,754,355...40,754,446
|
|
G
|
PDE5A
|
phosphodiesterase 5A
|
involved_in
|
ISO
|
(PMID:19127022)
|
BHF-UCL |
PMID:19127022 |
|
NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804
|
|
G
|
PIK3CG
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
|
involved_in
|
TAS
|
(PMID:19147653)
|
UniProt |
PMID:19147653 |
|
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
|
|
G
|
SRI
|
sorcin
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 7:88,205,115...88,226,976
Ensembl chr 7:88,205,115...88,226,993
|
|
G
|
ZC3H12A
|
zinc finger CCCH-type containing 12A
|
involved_in
|
IEA ISS
|
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:37,474,580...37,484,377
Ensembl chr 1:37,474,580...37,484,377
|
|
|
G
|
MIR328
|
microRNA 328
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr16:67,202,321...67,202,395
Ensembl chr16:67,202,321...67,202,395
|
|
|
G
|
KCNE3
|
potassium voltage-gated channel subfamily E regulatory subunit 3
|
involved_in
|
IMP
|
(PMID:22987075)
|
BHF-UCL |
PMID:22987075 |
|
NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
|
|
|
G
|
BIN1
|
bridging integrator 1
|
involved_in
|
ISS
|
|
ARUK-UCL |
|
GO_REF:0000024 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
|
|
|
G
|
TRPM4
|
transient receptor potential cation channel subfamily M member 4
|
involved_in
|
ISO ISS
|
|
RGD BHF-UCL |
PMID:23954346 |
GO_REF:0000024 RGD:10003031 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
|
|
|
G
|
ATP2A1
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
|
involved_in
|
ISS
|
|
UniProt |
|
GO_REF:0000024 |
NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
|
|
G
|
CACNA1H
|
calcium voltage-gated channel subunit alpha1 H
|
|
ISO
|
|
RGD |
PMID:19443576 |
RGD:7205486 |
NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169
|
|
G
|
STRIT1
|
small transmembrane regulator of ion transport 1
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 3:155,290,227...155,293,683
Ensembl chr 3:155,290,227...155,293,683
|
|
|
G
|
ACE2
|
angiotensin converting enzyme 2
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
|
|
G
|
ADRA1A
|
adrenoceptor alpha 1A
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278
|
|
G
|
CCN2
|
cellular communication network factor 2
|
|
ISO
|
|
RGD |
PMID:19707545 |
RGD:2314476 |
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
|
|
G
|
CHGA
|
chromogranin A
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr14:92,922,664...92,935,285
Ensembl chr14:92,923,150...92,935,285
|
|
G
|
HSP90AA1
|
heat shock protein 90 alpha family class A member 1
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:21620734 |
GO_REF:0000107 RGD:5686387 |
NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
|
|
G
|
KCNQ1
|
potassium voltage-gated channel subfamily Q member 1
|
involved_in
|
IMP
|
(PMID:19646991)
|
BHF-UCL |
PMID:19646991 |
|
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
|
|
G
|
MIR1-1
|
microRNA 1-1
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376
|
|
G
|
MIR1-2
|
microRNA 1-2
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088
|
|
G
|
NPPA
|
natriuretic peptide A
|
involved_in
|
IMP
|
(PMID:19646991)
|
BHF-UCL |
PMID:19646991 |
|
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
|
|
G
|
RGS2
|
regulator of G protein signaling 2
|
involved_in
|
ISS IEA
|
|
BHF-UCL Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275
|
|
G
|
SMTN
|
smoothelin
|
acts_upstream_of_or_within
|
ISO
|
(PMID:18678771)
|
MGI |
PMID:18678771 |
|
NCBI chr22:31,064,118...31,104,624
Ensembl chr22:31,064,105...31,104,757
|
|
G
|
UCN
|
urocortin
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:19460778 |
GO_REF:0000107 RGD:5508168 |
NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445
|
|
|
G
|
NOS1
|
nitric oxide synthase 1
|
involved_in
|
TAS
|
(PMID:18337493)
|
BHF-UCL |
PMID:18337493 |
|
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
|
|
G
|
NOS1AP
|
nitric oxide synthase 1 adaptor protein
|
acts_upstream_of
|
ISS
|
(PMID:18337493)
|
BHF-UCL |
PMID:18337493 |
|
NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
|
|
G
|
RNF207
|
ring finger protein 207
|
involved_in acts_upstream_of
|
ISS IMP
|
(PMID:25281747)
|
BHF-UCL |
PMID:25281747 |
GO_REF:0000024 |
NCBI chr 1:6,206,119...6,221,299
Ensembl chr 1:6,205,475...6,221,299
|
|
|
G
|
ANK2
|
ankyrin 2
|
involved_in
|
IMP
|
(PMID:12571597)
|
BHF-UCL |
PMID:12571597 |
|
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
|
|
G
|
GJA5
|
gap junction protein alpha 5
|
involved_in
|
IMP
|
(PMID:23348765)
|
BHF-UCL |
PMID:23348765 |
|
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
G
|
RYR2
|
ryanodine receptor 2
|
involved_in
|
IMP
|
(PMID:17875969)
|
BHF-UCL |
PMID:17875969 |
|
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
|
|
|
G
|
AKAP9
|
A-kinase anchoring protein 9
|
involved_in
|
IMP
|
(PMID:18093912)
|
BHF-UCL |
PMID:18093912 |
|
NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
|
|
G
|
ATP2A2
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
|
|
G
|
CAMK2D
|
calcium/calmodulin dependent protein kinase II delta
|
involved_in
|
IC
|
(PMID:12676813)
|
BHF-UCL |
PMID:12676813 |
|
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
|
|
G
|
CAV1
|
caveolin 1
|
involved_in
|
IC
|
(PMID:18923542)
|
BHF-UCL |
PMID:18923542 |
|
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
|
|
G
|
CAV3
|
caveolin 3
|
involved_in
|
IMP
|
(PMID:17060380)
|
BHF-UCL |
PMID:17060380 |
|
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
|
|
G
|
FGF13
|
fibroblast growth factor 13
|
involved_in
|
IEA ISS
|
(PMID:21817159)
|
Ensembl BHF-UCL |
PMID:21817159 |
GO_REF:0000107 |
NCBI chr X:138,614,727...139,205,023
Ensembl chr X:138,614,727...139,222,777
|
|
G
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
involved_in
|
IMP
|
(PMID:16407510)
|
BHF-UCL |
PMID:16407510 |
|
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
|
|
G
|
RANGRF
|
RAN guanine nucleotide release factor
|
involved_in
|
IMP
|
(PMID:21621375)
|
BHF-UCL |
PMID:21621375 |
|
NCBI chr17:8,288,670...8,290,087
Ensembl chr17:8,288,654...8,290,092
|
|
|
G
|
ADORA1
|
adenosine A1 receptor
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:19525381 |
GO_REF:0000107 RGD:2317914 |
NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
|
|
G
|
ADRB1
|
adrenoceptor beta 1
|
|
ISO
|
|
RGD |
PMID:19525381 PMID:22216755 |
RGD:2317914 RGD:6893639 |
NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
|
|
G
|
AKAP6
|
A-kinase anchoring protein 6
|
involved_in
|
ISO
|
PMID:11179196
|
BHF-UCL |
PMID:11179196 |
RGD:8553373 |
NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684
|
|
G
|
ANK2
|
ankyrin 2
|
involved_in
|
IGI
|
(PMID:17242276)
|
BHF-UCL |
PMID:17242276 |
|
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
|
|
G
|
ATP1A1
|
ATPase Na+/K+ transporting subunit alpha 1
|
|
ISO
|
|
RGD |
PMID:15629895 |
RGD:6903236 |
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
|
|
G
|
ATP1A2
|
ATPase Na+/K+ transporting subunit alpha 2
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:17442282 |
GO_REF:0000107 RGD:6903343 |
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
|
|
G
|
CASQ2
|
calsequestrin 2
|
involved_in
|
ISO
|
PMID:17569730
|
BHF-UCL |
PMID:17569730 |
RGD:2314601 |
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
|
|
G
|
FXYD1
|
FXYD domain containing ion transport regulator 1
|
|
ISO
|
|
RGD |
PMID:14684371 |
RGD:9685468 |
NCBI chr19:35,137,188...35,143,109
Ensembl chr19:35,138,824...35,143,109
|
|
G
|
GATA4
|
GATA binding protein 4
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:21702924 |
GO_REF:0000107 RGD:7207043 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
G
|
KCNJ2
|
potassium inwardly rectifying channel subfamily J member 2
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:22426100 |
GO_REF:0000107 RGD:7247430 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
|
|
G
|
MIR448
|
microRNA 448
|
involved_in
|
ISS
|
(PMID:33108349)
|
BHF-UCL |
PMID:33108349 |
|
NCBI chr X:114,823,454...114,823,564
Ensembl chr X:114,823,454...114,823,564
|
|
G
|
MYBPC3
|
myosin binding protein C3
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
|
|
G
|
MYH7B
|
myosin heavy chain 7B
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:32207065 |
GO_REF:0000107 RGD:126925946 |
NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437
|
|
G
|
PDE4B
|
phosphodiesterase 4B
|
involved_in
|
IEA ISS
|
|
Ensembl BHF-UCL |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:65,792,510...66,374,579
Ensembl chr 1:65,792,514...66,374,579
|
|
G
|
PDE4D
|
phosphodiesterase 4D
|
involved_in
|
ISO ISS
|
(PMID:21903937)
|
RGD BHF-UCL |
PMID:19801680 PMID:21903937 |
GO_REF:0000024 RGD:7327160 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
|
|
G
|
PLN
|
phospholamban
|
involved_in acts_upstream_of_or_within
|
IC IEA IDA
|
(PMID:19708671) (PMID:26673394)
|
BHF-UCL Ensembl ComplexPortal |
PMID:19708671 PMID:26673394 |
GO_REF:0000107 |
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
|
|
G
|
SCN5A
|
sodium voltage-gated channel alpha subunit 5
|
involved_in acts_upstream_of_or_within
|
IMP ISO
|
(PMID:22529811) (PMID:16172272)
|
BHF-UCL MGI |
PMID:16172272 PMID:22529811 |
|
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
|
|
G
|
SRI
|
sorcin
|
involved_in
|
IMP
|
(PMID:12754254), (PMID:17130302)
|
BHF-UCL |
PMID:12754254 PMID:17130302 |
|
NCBI chr 7:88,205,115...88,226,976
Ensembl chr 7:88,205,115...88,226,993
|
|
G
|
STC1
|
stanniocalcin 1
|
involved_in
|
IDA
|
(PMID:12663264)
|
UniProt |
PMID:12663264 |
|
NCBI chr 8:23,841,929...23,854,806
Ensembl chr 8:23,841,929...23,854,806
|
|
G
|
SUMO1
|
small ubiquitin like modifier 1
|
involved_in
|
IEA ISS
|
|
Ensembl BHF-UCL |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
|
|
|
G
|
ADORA1
|
adenosine A1 receptor
|
involved_in
|
ISO IEA
|
|
RGD Ensembl |
PMID:20334814 |
GO_REF:0000107 RGD:2317910 |
NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
|
|
G
|
ADRA1A
|
adrenoceptor alpha 1A
|
involved_in
|
IEA
|
|
InterPro |
|
GO_REF:0000002 |
NCBI chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278
|
|
G
|
ADRA1B
|
adrenoceptor alpha 1B
|
involved_in
|
IEA
|
|
InterPro |
|
GO_REF:0000002 |
NCBI chr 5:159,865,086...159,989,205
Ensembl chr 5:159,865,080...159,973,012
|
|
G
|
AGRN
|
agrin
|
involved_in
|
ISO
|
(PMID:19376779)
|
BHF-UCL |
PMID:19376779 |
|
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
|
|
G
|
ANK2
|
ankyrin 2
|
involved_in
|
IMP
|
(PMID:15178757)
|
BHF-UCL |
PMID:15178757 |
|
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
|
|
G
|
BMP10
|
bone morphogenetic protein 10
|
involved_in
|
IMP
|
(PMID:17921333)
|
BHF-UCL |
PMID:17921333 |
|
NCBI chr 2:68,860,909...68,871,397
Ensembl chr 2:68,860,909...68,871,397
|
|
G
|
CALM1
|
calmodulin 1
|
involved_in
|
IMP
|
(PMID:23040497)
|
BHF-UCL |
PMID:23040497 |
|
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
|
|
G
|
CALM2
|
calmodulin 2
|
involved_in
|
IMP
|
(PMID:23040497)
|
BHF-UCL |
PMID:23040497 |
|
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
|
|
G
|
CALM3
|
calmodulin 3
|
involved_in
|
IMP
|
(PMID:23040497)
|
BHF-UCL |
PMID:23040497 |
|
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
|
|
G
|
CAV3
|
caveolin 3
|
involved_in
|
IMP
|
(PMID:17275750)
|
BHF-UCL |
PMID:17275750 |
|
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
|
|
G
|
EHD3
|
EH domain containing 3
|
involved_in
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 2:31,234,152...31,269,451
Ensembl chr 2:31,234,152...31,269,451
|
|
G
|
FPGT-TNNI3K
|
FPGT-TNNI3K readthrough
|
involved_in
|
IMP
|
(PMID:24925317)
|
BHF-UCL |
PMID:24925317 |
|
NCBI chr 1:74,198,242...74,544,428
Ensembl chr 1:74,198,235...74,544,393
|
|
G
|
GJA5
|
gap junction protein alpha 5
|
involved_in
|
IMP
|
(PMID:16790700), (PMID:22247482), (PMID:23348765)
|
BHF-UCL |
PMID:16790700 PMID:22247482 PMID:23348765 |
|
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
G
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
involved_in
|
IMP
|
(PMID:12750403)
|
BHF-UCL |
PMID:12750403 |
|
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
|
|
G
|
MIR1-1
|
microRNA 1-1
|
involved_in
|
IDA
|
(PMID:19131648)
|
BHF-UCL |
PMID:19131648 |
|
NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376
|
|
G
|
MIR1-2
|
microRNA 1-2
|
involved_in
|
IDA
|
(PMID:19131648)
|
BHF-UCL |
PMID:19131648 |
|
NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088
|
|
G
|
MIR200C
|
microRNA 200c
|
acts_upstream_of
|
IMP
|
(PMID:29373717)
|
BHF-UCL |
PMID:29373717 |
|
NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766
|
|
G
|
NKX2-5
|
NK2 homeobox 5
|
involved_in
|
IEA ISS
|
(PMID:8900537)
|
Ensembl BHF-UCL |
PMID:8900537 |
GO_REF:0000107 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
|
|
G
|
NOS1
|
nitric oxide synthase 1
|
involved_in
|
TAS
|
(PMID:9892689)
|
BHF-UCL |
PMID:9892689 |
|
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
|
|
G
|
P2RX4
|
purinergic receptor P2X 4
|
involved_in
|
IMP
|
(PMID:11606481), (PMID:15130891)
|
BHF-UCL |
PMID:11606481 PMID:15130891 |
|
NCBI chr12:121,210,129...121,234,106
Ensembl chr12:121,210,065...121,234,106
|
|
G
|
PRKACA
|
protein kinase cAMP-activated catalytic subunit alpha
|
involved_in
|
TAS
|
(PMID:23507255)
|
BHF-UCL |
PMID:23507255 |
|
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
|
|
G
|
RNF207
|
ring finger protein 207
|
involved_in acts_upstream_of
|
IBA ISS
|
|
GO_Central BHF-UCL |
|
GO_REF:0000024 GO_REF:0000033 |
NCBI chr 1:6,206,119...6,221,299
Ensembl chr 1:6,205,475...6,221,299
|
|
G
|
RYR2
|
ryanodine receptor 2
|
involved_in
|
IMP
|
(PMID:11159936)
|
BHF-UCL |
PMID:11159936 |
|
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
|
|
G
|
SCN10A
|
sodium voltage-gated channel alpha subunit 10
|
involved_in
|
IMP
|
(PMID:20062061)
|
BHF-UCL |
PMID:20062061 |
|
NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
|
|
G
|
SMAD7
|
SMAD family member 7
|
involved_in
|
IEA ISS
|
|
Ensembl BHF-UCL |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965
|
|
G
|
TNNI3K
|
TNNI3 interacting kinase
|
involved_in
|
IMP
|
(PMID:24925317)
|
BHF-UCL |
PMID:24925317 |
|
NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428
|
|
|
G
|
ANK2
|
ankyrin 2
|
involved_in
|
IMP
|
(PMID:12571597)
|
BHF-UCL |
PMID:12571597 |
|
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
|
|
G
|
ATP1B1
|
ATPase Na+/K+ transporting subunit beta 1
|
involved_in
|
IEA ISS
|
|
Ensembl BHF-UCL |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
|
|
G
|
ATP2A2
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
|
involved_in
|
IDA IBA
|
(PMID:10587333)
|
BHF-UCL GO_Central |
PMID:10587333 |
GO_REF:0000033 |
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
|
|
G
|
HDAC4
|
histone deacetylase 4
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 2:239,048,168...239,401,649 NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654
|
|
G
|
JPH1
|
junctophilin 1
|
involved_in
|
TAS
|
(PMID:19095005)
|
BHF-UCL |
PMID:19095005 |
|
NCBI chr 8:74,234,700...74,321,540
Ensembl chr 8:74,234,700...74,321,540
|
|
G
|
JPH2
|
junctophilin 2
|
involved_in
|
TAS
|
(PMID:19095005)
|
BHF-UCL |
PMID:19095005 |
|
NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
|
|
G
|
JPH3
|
junctophilin 3
|
involved_in
|
TAS
|
(PMID:19095005)
|
BHF-UCL |
PMID:19095005 |
|
NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156
|
|
G
|
JPH4
|
junctophilin 4
|
involved_in
|
TAS
|
(PMID:19095005)
|
BHF-UCL |
PMID:19095005 |
|
NCBI chr14:23,568,038...23,578,790
Ensembl chr14:23,568,038...23,578,790
|
|
G
|
NOS1
|
nitric oxide synthase 1
|
involved_in
|
TAS
|
(PMID:18337493)
|
BHF-UCL |
PMID:18337493 |
|
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
|
|
G
|
RYR2
|
ryanodine receptor 2
|
involved_in
|
IMP
|
(PMID:17875969)
|
BHF-UCL |
PMID:17875969 |
|
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
|
|
G
|
SLC8A1
|
solute carrier family 8 member A1
|
involved_in
|
TAS
|
(PMID:23224879)
|
BHF-UCL |
PMID:23224879 |
|
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
|
|
G
|
SLC9A1
|
solute carrier family 9 member A1
|
involved_in
|
IMP
|
(PMID:15105296)
|
BHF-UCL |
PMID:15105296 |
|
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
|
|
G
|
TNNI3
|
troponin I3, cardiac type
|
involved_in
|
IMP
|
(PMID:25771144)
|
CAFA |
PMID:25771144 |
|
NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
|
|
|
G
|
ANK2
|
ankyrin 2
|
involved_in
|
IGI ISS
|
(PMID:17178715) (PMID:21859974)
|
BHF-UCL |
PMID:17178715 PMID:21859974 |
|
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
|
|
G
|
ASPH
|
aspartate beta-hydroxylase
|
involved_in
|
TAS
|
(PMID:15041652), (PMID:22123818)
|
BHF-UCL |
PMID:15041652 PMID:22123818 |
|
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
|
|
G
|
ATP1A2
|
ATPase Na+/K+ transporting subunit alpha 2
|
involved_in
|
TAS
|
(PMID:23608603)
|
BHF-UCL |
PMID:23608603 |
|
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
|
|
G
|
CACNA1C
|
calcium voltage-gated channel subunit alpha1 C
|
involved_in
|
ISS TAS
|
(PMID:11576544)
|
UniProt BHF-UCL |
PMID:11576544 |
GO_REF:0000024 |
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
|
|
G
|
CALM1
|
calmodulin 1
|
involved_in
|
IC IDA
|
(PMID:20226167)
|
BHF-UCL |
PMID:20226167 |
GO_REF:0000036 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
|
|
G
|
CALM2
|
calmodulin 2
|
involved_in
|
IC IDA
|
(PMID:20226167)
|
BHF-UCL |
PMID:20226167 |
GO_REF:0000036 |
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
|
|
G
|
CALM3
|
calmodulin 3
|
involved_in
|
IC IDA
|
(PMID:20226167)
|
BHF-UCL |
PMID:20226167 |
GO_REF:0000036 |
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
|
|
G
|
CAMK2D
|
calcium/calmodulin dependent protein kinase II delta
|
involved_in
|
TAS IC
|
(PMID:17157285) (PMID:12676813)
|
UniProt BHF-UCL |
PMID:12676813 PMID:17157285 |
|
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
|
|
G
|
CASQ2
|
calsequestrin 2
|
involved_in acts_upstream_of_or_within
|
IMP ISS IDA ISO IBA
|
(PMID:16601229), (PMID:16908766) (PMID:9525981)
|
BHF-UCL MGI GO_Central |
PMID:9525981 PMID:16601229 PMID:16908766 |
GO_REF:0000024 GO_REF:0000033 |
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
|
|
G
|
CLIC2
|
chloride intracellular channel 2
|
involved_in
|
IDA
|
(PMID:15147738)
|
BHF-UCL |
PMID:15147738 |
|
NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657
|
|
G
|
DMD
|
dystrophin
|
involved_in
|
ISS
|
(PMID:20080623)
|
BHF-UCL |
PMID:20080623 |
|
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
|
|
G
|
FKBP1A
|
FKBP prolyl isomerase 1A
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr20:1,368,978...1,393,054
Ensembl chr20:1,368,977...1,393,164
|
|
G
|
FKBP1B
|
FKBP prolyl isomerase 1B
|
involved_in
|
ISS IBA TAS IDA IEA
|
(PMID:22087651) (PMID:20431056), (PMID:7592869)
|
BHF-UCL GO_Central Ensembl |
PMID:7592869 PMID:20431056 PMID:22087651 |
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
|
|
G
|
GSTM2
|
glutathione S-transferase mu 2
|
involved_in
|
IC IDA
|
(PMID:22406107) (PMID:17023043)
|
BHF-UCL |
PMID:17023043 PMID:22406107 |
|
NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551
|
|
G
|
GSTO1
|
glutathione S-transferase omega 1
|
involved_in
|
IDA
|
(PMID:11035031)
|
BHF-UCL |
PMID:11035031 |
|
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
|
|
G
|
HRC
|
histidine rich calcium binding protein
|
involved_in
|
TAS
|
(PMID:17526652)
|
BHF-UCL |
PMID:17526652 |
|
NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396
|
|
G
|
MIR1-1
|
microRNA 1-1
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376
|
|
G
|
MIR1-2
|
microRNA 1-2
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088
|
|
G
|
MIR133A1
|
microRNA 133a-1
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785
|
|
G
|
MIR133A2
|
microRNA 133a-2
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013
|
|
G
|
PLN
|
phospholamban
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
|
|
G
|
PRKACA
|
protein kinase cAMP-activated catalytic subunit alpha
|
involved_in
|
TAS
|
(PMID:23507255)
|
BHF-UCL |
PMID:23507255 |
|
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
|
|
G
|
RYR2
|
ryanodine receptor 2
|
involved_in
|
ISS IMP IDA IEA
|
(PMID:17875969) (PMID:19220289)
|
BHF-UCL Ensembl |
PMID:17875969 PMID:19220289 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
|
|
G
|
SLC8A1
|
solute carrier family 8 member A1
|
involved_in
|
ISS TAS
|
(PMID:23608603)
|
BHF-UCL |
PMID:23608603 |
GO_REF:0000024 |
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
|
|
G
|
TMEM38A
|
transmembrane protein 38A
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr19:16,661,139...16,690,023
Ensembl chr19:16,661,139...16,690,023
|
|
G
|
TMEM38B
|
transmembrane protein 38B
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
|
|
G
|
TRDN
|
triadin
|
involved_in
|
TAS
|
(PMID:17569730)
|
BHF-UCL |
PMID:17569730 |
|
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
|
|
|
G
|
FLNA
|
filamin A
|
involved_in
|
IC
|
|
BHF-UCL |
|
GO_REF:0000111 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
|
|
|
G
|
CASQ2
|
calsequestrin 2
|
involved_in
|
ISS
|
(PMID:21063088)
|
BHF-UCL |
PMID:21063088 |
|
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
|
|
G
|
MIR1-1
|
microRNA 1-1
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376
|
|
G
|
MIR1-2
|
microRNA 1-2
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088
|
|
G
|
MIR133A1
|
microRNA 133a-1
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785
|
|
G
|
MIR133A2
|
microRNA 133a-2
|
involved_in
|
ISS
|
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013
|
|
|
G
|
CACNA1C
|
calcium voltage-gated channel subunit alpha1 C
|
involved_in
|
IMP
|
(PMID:15454078), (PMID:26253506)
|
BHF-UCL |
PMID:15454078 PMID:26253506 |
|
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
|
|
G
|
CAV1
|
caveolin 1
|
involved_in
|
IEA ISS
|
|
Ensembl BHF-UCL |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
|
|
G
|
CTNNA3
|
catenin alpha 3
|
involved_in
|
IMP
|
(PMID:23136403)
|
BHF-UCL |
PMID:23136403 |
|
NCBI chr10:65,912,523...67,763,594
Ensembl chr10:65,912,457...67,763,637
|
|
G
|
DLG1
|
discs large MAGUK scaffold protein 1
|
involved_in
|
ISS IEA
|
(PMID:25447080)
|
BHF-UCL Ensembl |
PMID:25447080 |
GO_REF:0000107 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
|
|
G
|
DSC2
|
desmocollin 2
|
involved_in
|
IMP
|
(PMID:23863954)
|
BHF-UCL |
PMID:23863954 |
|
NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
|
|
G
|
DSG2
|
desmoglein 2
|
involved_in
|
IMP
|
(PMID:16505173), (PMID:23381804)
|
BHF-UCL |
PMID:16505173 PMID:23381804 |
|
NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
|
|
G
|
DSP
|
desmoplakin
|
involved_in
|
IMP
|
(PMID:12373648)
|
BHF-UCL |
PMID:12373648 |
|
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
|
|
G
|
JUP
|
junction plakoglobin
|
involved_in
|
IMP
|
(PMID:17924338)
|
BHF-UCL |
PMID:17924338 |
|
NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
|
|
G
|
PKP2
|
plakophilin 2
|
involved_in
|
IMP
|
(PMID:22889254)
|
BHF-UCL |
PMID:22889254 |
|
NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
|
|
G
|
RYR2
|
ryanodine receptor 2
|
involved_in
|
IMP
|
(PMID:17875969)
|
BHF-UCL |
PMID:17875969 |
|
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
|
|
G
|
TRPM4
|
transient receptor potential cation channel subfamily M member 4
|
involved_in
|
IMP
|
(PMID:27207958)
|
BHF-UCL |
PMID:27207958 |
|
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
|
|
|
G
|
ANK2
|
ankyrin 2
|
involved_in
|
IMP
|
(PMID:17242276)
|
BHF-UCL |
PMID:17242276 |
|
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
|
|
G
|
CAV3
|
caveolin 3
|
involved_in
|
ISS IEA
|
(PMID:22879586)
|
BHF-UCL Ensembl |
PMID:22879586 |
GO_REF:0000107 |
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
|
|
G
|
GJA5
|
gap junction protein alpha 5
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
G
|
GPD1L
|
glycerol-3-phosphate dehydrogenase 1 like
|
involved_in
|
IMP
|
(PMID:17967977), (PMID:19666841)
|
BHF-UCL |
PMID:17967977 PMID:19666841 |
|
NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
|
|
G
|
KCNE1
|
potassium voltage-gated channel subfamily E regulatory subunit 1
|
involved_in
|
IMP IBA
|
(PMID:9354802)
|
BHF-UCL GO_Central |
PMID:9354802 |
GO_REF:0000033 |
NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
|
|
G
|
KCNE2
|
potassium voltage-gated channel subfamily E regulatory subunit 2
|
involved_in acts_upstream_of_or_within
|
IMP ISO IBA
|
(PMID:10219239) (PMID:18603586)
|
BHF-UCL MGI GO_Central |
PMID:10219239 PMID:18603586 |
GO_REF:0000033 |
NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381
|
|
G
|
KCNE3
|
potassium voltage-gated channel subfamily E regulatory subunit 3
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
|
|
G
|
KCNE4
|
potassium voltage-gated channel subfamily E regulatory subunit 4
|
involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 2:223,052,190...223,055,637
Ensembl chr 2:223,052,190...223,198,399
|
|
G
|
KCNE5
|
potassium voltage-gated channel subfamily E regulatory subunit 5
|
involved_in
|
IMP IBA
|
(PMID:21493962)
|
BHF-UCL GO_Central |
PMID:21493962 |
GO_REF:0000033 |
NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172
|
|
G
|
KCNH2
|
potassium voltage-gated channel subfamily H member 2
|
involved_in
|
IMP
|
(PMID:21536673)
|
BHF-UCL |
PMID:21536673 |
|
NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
|
|
G
|
KCNQ1
|
potassium voltage-gated channel subfamily Q member 1
|
involved_in
|
IMP
|
(PMID:8528244)
|
BHF-UCL |
PMID:8528244 |
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NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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G
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NEDD4L
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NEDD4 like E3 ubiquitin protein ligase
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involved_in
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ISS
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(PMID:22879586)
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BHF-UCL |
PMID:22879586 |
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NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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G
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PKP2
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plakophilin 2
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involved_in
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IMP
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(PMID:22889254)
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BHF-UCL |
PMID:22889254 |
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NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
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G
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RYR2
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ryanodine receptor 2
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involved_in
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IEA ISS
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Ensembl BHF-UCL |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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G
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SCN3B
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sodium voltage-gated channel beta subunit 3
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involved_in acts_upstream_of_or_within
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IMP IEA IBA
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(PMID:20042427)
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BHF-UCL Ensembl GO_Central |
PMID:20042427 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
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G
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SCN5A
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sodium voltage-gated channel alpha subunit 5
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involved_in
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IMP
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(PMID:22529811)
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BHF-UCL |
PMID:22529811 |
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NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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G
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SNTA1
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syntrophin alpha 1
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involved_in
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IMP IBA
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(PMID:18591664)
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BHF-UCL GO_Central |
PMID:18591664 |
GO_REF:0000033 |
NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
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Term paths to the root
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