Term: | Abnormal EKG |
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Accession: | HP:0003115
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browse the term
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Definition: | Abnormal rhythm of the heart. |
Synonyms: | exact_synonym: | Abnormal ECG; Abnormal electrocardiogram; EKG abnormality |
| xref: | SNOMEDCT_US:102594003; UMLS:C0522055 |
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G
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ACE
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angiotensin I converting enzyme
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susceptibility
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IAGP
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associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del
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RGD |
PMID:7555560 PMID:23170137 |
RGD:7829785, RGD:7829797 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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G
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CBL
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Cbl proto-oncogene
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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G
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COL6A1
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collagen type VI alpha 1 chain
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IAGP
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HPO |
PMID:30808312 |
MIM:158810 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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G
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DBH
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dopamine beta-hydroxylase
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IAGP
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HPO |
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ORPHA:230 |
NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
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G
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DES
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desmin
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IAGP
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DNA:mutation:cds:c.1203G>C (p.E401D)(human)
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RGD |
PMID:29212896 |
RGD:13525009 |
NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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G
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DMD
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dystrophin
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IAGP
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HPO |
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MIM:300376 MIM:310200 |
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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DSC3
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desmocollin 3
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IAGP
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HPO |
PMID:19765682 |
MIM:613102 |
NCBI chr18:30,989,365...31,042,742
Ensembl chr18:30,989,365...31,042,815
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G
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DYSF
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dysferlin
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IAGP
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HPO |
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ORPHA:268 |
NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
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G
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FXN
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frataxin
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IAGP
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HPO |
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MIM:229300 ORPHA:95 |
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
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G
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HLA-B
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major histocompatibility complex, class I, B
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IAGP
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associated with Graves Disease;DNA:polymorphism:cds:HLA-B15
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RGD |
PMID:8894996 |
RGD:7365110 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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G
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KRAS
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KRAS proto-oncogene, GTPase
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G
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LZTR1
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leucine zipper like post translational regulator 1
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G
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MMP9
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matrix metallopeptidase 9
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susceptibility
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IAGP
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DNA:snps:promoter, exon:g.-1562C>T, p.R279Q (rs3918242, rs2664538)
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RGD |
PMID:17893005 |
RGD:7207049 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G
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MRAS
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muscle RAS oncogene homolog
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
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G
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MTHFR
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methylenetetrahydrofolate reductase
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susceptibility
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IAGP
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associated with Kidney Failure, Chronic;DNA:transition:cds:g.677C>T (rs1801133)
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RGD |
PMID:19272686 |
RGD:6893548 |
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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G
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MYH7
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myosin heavy chain 7
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IAGP
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DNA:missense mutation:exon:p.R281T (c.842G>C)
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RGD |
PMID:18159245 |
RGD:11098258 |
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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NEU1
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neuraminidase 1
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IAGP
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HPO |
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ORPHA:93400 |
NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
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G
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NRAS
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NRAS proto-oncogene, GTPase
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G
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PCSK2
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proprotein convertase subtilisin/kexin type 2
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IAGP
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DNA:SNP:intron: (rs6080699)
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RGD |
PMID:20036365 |
RGD:6483554 |
NCBI chr20:17,226,107...17,484,578
Ensembl chr20:17,226,107...17,484,578
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G
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PLAU
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plasminogen activator, urokinase
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IAGP
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DNA:SNP:3' utr:c.*141C>T (rs4065)
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RGD |
PMID:20518747 |
RGD:6484126 |
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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G
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PPARGC1A
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PPARG coactivator 1 alpha
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IAGP
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DNA:missense mutation:cds:p.R643G
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RGD |
PMID:15488875 |
RGD:6771224 |
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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G
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PTPN11
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protein tyrosine phosphatase non-receptor type 11
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G
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RAF1
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Raf-1 proto-oncogene, serine/threonine kinase
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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G
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RASA2
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RAS p21 protein activator 2
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
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G
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RIT1
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Ras like without CAAX 1
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
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G
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RRAS
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RAS related
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
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G
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RRAS2
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RAS related 2
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
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G
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SERPINE1
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serpin family E member 1
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susceptibility
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IAGP
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DNA:deletion:promoter:g.-676_-674delG
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RGD |
PMID:12477941 |
RGD:1626626 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G
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SOS1
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SOS Ras/Rac guanine nucleotide exchange factor 1
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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G
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SOS2
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SOS Ras/Rho guanine nucleotide exchange factor 2
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
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G
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SPRED2
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sprouty related EVH1 domain containing 2
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IAGP
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HPO |
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ORPHA:648 |
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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G
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TANGO2
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transport and golgi organization 2 homolog
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IAGP
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HPO |
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ORPHA:480864 |
NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
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G
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TTR
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transthyretin
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IAGP
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HPO |
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ORPHA:85451 |
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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G
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NPPA
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natriuretic peptide A
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IAGP
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HPO |
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ORPHA:1344 |
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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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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IAGP
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HPO |
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ORPHA:1344 |
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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TLL1
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tolloid like 1
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IAGP
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HPO |
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ORPHA:99106 |
NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
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G
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ACE
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angiotensin I converting enzyme
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susceptibility
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IAGP
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DNA:deletion:intron:IVS16+1464-1751del
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RGD |
PMID:19648063 |
RGD:8142351 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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G
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GNB2
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G protein subunit beta 2
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IAGP
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HPO |
PMID:28219978 |
MIM:619464 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G
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ITGA9
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integrin subunit alpha 9
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IAGP
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DNA:SNP: :rs267567(human)
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RGD |
PMID:23139255 |
RGD:13602006 |
NCBI chr 3:37,452,141...37,823,507
Ensembl chr 3:37,452,115...37,823,507
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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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IAGP
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HPO |
PMID:21131953 |
MIM:614896 |
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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GNB2
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G protein subunit beta 2
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IAGP
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HPO |
PMID:28219978 |
MIM:619464 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G
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GNB2
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G protein subunit beta 2
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IAGP
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HPO |
PMID:28219978 |
MIM:619464 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G
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HCN4
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hyperpolarization activated cyclic nucleotide gated potassium channel 4
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IAGP
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HPO |
PMID:25145518 |
MIM:163800 |
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
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G
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RAF1
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Raf-1 proto-oncogene, serine/threonine kinase
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IAGP
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HPO |
PMID:24777450 |
MIM:615916 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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G
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TNNT2
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troponin T2, cardiac type
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IAGP
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HPO |
PMID:16651346 |
MIM:612422 |
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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AKAP9
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A-kinase anchoring protein 9
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
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G
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ANK2
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ankyrin 2
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IAGP
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HPO |
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ORPHA:101016 |
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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IAGP
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HPO |
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ORPHA:2131 |
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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IAGP
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HPO |
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ORPHA:2131 |
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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BRF1
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BRF1 general transcription factor IIIB subunit
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IAGP
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HPO |
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ORPHA:444072 |
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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G
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CACNA1A
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calcium voltage-gated channel subunit alpha1 A
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IAGP
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HPO |
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ORPHA:2131 |
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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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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IAGP
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HPO |
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ORPHA:101016 |
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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CALM1
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calmodulin 1
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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G
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CALM2
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calmodulin 2
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
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G
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CALM3
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calmodulin 3
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
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G
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CAV3
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caveolin 3
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
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G
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CLCNKB
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chloride voltage-gated channel Kb
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IAGP
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HPO |
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ORPHA:358 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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G
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DCAF17
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DDB1 and CUL4 associated factor 17
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IAGP
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HPO |
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MIM:241080 |
NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052
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G
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KCNE1
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potassium voltage-gated channel subfamily E regulatory subunit 1
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
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G
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KCNE2
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potassium voltage-gated channel subfamily E regulatory subunit 2
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381
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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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IAGP
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HPO |
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ORPHA:101016 |
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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KCNJ2
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potassium inwardly rectifying channel subfamily J member 2
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IAGP
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HPO |
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ORPHA:37553 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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G
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KCNJ5
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potassium inwardly rectifying channel subfamily J member 5
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IAGP
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HPO |
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ORPHA:101016 ORPHA:37553 |
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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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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IAGP
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HPO |
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ORPHA:101016 |
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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MECP2
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methyl-CpG binding protein 2
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IAGP
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HPO |
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MIM:312750 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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G
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NOS1AP
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nitric oxide synthase 1 adaptor protein
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
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G
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RYR1
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ryanodine receptor 1
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IAGP
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HPO |
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ORPHA:466650 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G
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SCN10A
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sodium voltage-gated channel alpha subunit 10
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
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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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IAGP
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HPO |
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ORPHA:101016 |
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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IAGP
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HPO |
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ORPHA:101016 |
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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SLC12A3
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solute carrier family 12 member 3
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IAGP
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HPO |
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ORPHA:358 |
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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G
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SLC1A3
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solute carrier family 1 member 3
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IAGP
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HPO |
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ORPHA:2131 |
NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
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G
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SNTA1
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syntrophin alpha 1
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
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G
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TBX5
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T-box transcription factor 5
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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G
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TRDN
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triadin
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
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G
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CAV3
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caveolin 3
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IAGP
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HPO |
PMID:17060380 |
MIM:611818 |
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
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G
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EMD
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emerin
|
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IAGP
|
|
HPO |
PMID:29250285 |
MIM:310300 |
NCBI chr X:154,379,295...154,381,523
Ensembl chr X:154,379,273...154,381,574
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G
|
NKX2-6
|
NK2 homeobox 6
|
susceptibility
|
IAGP
|
DNA:missense mutation:CDS:p.Q175H
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RGD |
PMID:25319568 |
RGD:155882443 |
NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
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G
|
NPPA
|
natriuretic peptide A
|
|
IAGP
|
|
HPO |
PMID:23275345 |
MIM:615745 |
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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G
|
SCN5A
|
sodium voltage-gated channel alpha subunit 5
|
|
IAGP
|
|
HPO |
PMID:14523039 |
MIM:608567 |
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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G
|
SAA1
|
serum amyloid A1
|
|
IAGP
|
|
HPO |
|
ORPHA:85445 |
NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
|
|
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G
|
DSG2
|
desmoglein 2
|
|
IAGP
|
|
HPO |
PMID:16505173 |
MIM:610193 |
NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
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G
|
PKP2
|
plakophilin 2
|
|
IAGP
|
|
HPO |
PMID:15489853 PMID:16549640 |
MIM:609040 |
NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
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|
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G
|
LAMP2
|
lysosomal associated membrane protein 2
|
|
IAGP
|
|
HPO |
PMID:15253947 |
MIM:300257 |
NCBI chr X:120,426,148...120,469,349
Ensembl chr X:120,426,148...120,469,365
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G
|
SVIL
|
supervillin
|
|
IAGP
|
|
HPO |
PMID:32779703 |
MIM:619040 |
NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959
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|
|
G
|
CACNA1C
|
calcium voltage-gated channel subunit alpha1 C
|
|
IAGP
|
|
HPO |
PMID:17224476 |
MIM:611875 |
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
|
|
|
G
|
PLXND1
|
plexin D1
|
|
IAGP
|
|
HPO |
PMID:35396997 |
MIM:620294 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
|
|
G
|
PRKAG2
|
protein kinase AMP-activated non-catalytic subunit gamma 2
|
|
IAGP
|
|
HPO |
PMID:15877279 |
MIM:261740 |
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
|
|
G
|
TNNT2
|
troponin T2, cardiac type
|
|
IAGP
|
|
HPO |
PMID:16651346 |
MIM:612422 |
NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
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|
|
G
|
ALG10B
|
ALG10 alpha-1,2-glucosyltransferase B
|
|
IAGP
|
|
HPO |
PMID:34357002 |
MIM:613688 |
NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721
|
|
G
|
KCNH2
|
potassium voltage-gated channel subfamily H member 2
|
|
IAGP
|
|
HPO |
PMID:34357002 |
MIM:613688 |
NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
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|
|
G
|
GJA5
|
gap junction protein alpha 5
|
|
IAGP
|
|
HPO |
PMID:23348765 |
MIM:614049 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
G
|
SCN3B
|
sodium voltage-gated channel beta subunit 3
|
|
IAGP
|
|
HPO |
PMID:21051419 |
MIM:613120 |
NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
|
|
|
G
|
ACE
|
angiotensin I converting enzyme
|
|
IAGP
|
DNA:deletion:intron:IVS16+1464-1751del
|
RGD |
PMID:19648063 |
RGD:8142351 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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|
G
|
CLCNKB
|
chloride voltage-gated channel Kb
|
|
IAGP
|
|
HPO |
|
ORPHA:358 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
|
|
G
|
DSG2
|
desmoglein 2
|
|
IAGP
|
|
HPO |
PMID:16505173 |
MIM:610193 |
NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
|
|
G
|
GNB5
|
G protein subunit beta 5
|
|
IAGP
|
|
HPO |
|
ORPHA:542306 |
NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392
|
|
G
|
GPD1L
|
glycerol-3-phosphate dehydrogenase 1 like
|
|
IAGP
|
|
HPO |
PMID:11839626 |
MIM:611777 |
NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
|
|
G
|
KCNA5
|
potassium voltage-gated channel subfamily A member 5
|
|
IAGP
|
|
HPO |
PMID:23264583 |
MIM:612240 |
NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
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|
G
|
NKX2-5
|
NK2 homeobox 5
|
|
IAGP
|
|
HPO |
|
MIM:108900 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
|
|
G
|
SCN2B
|
sodium voltage-gated channel beta subunit 2
|
|
IAGP
|
|
HPO |
PMID:19808477 |
MIM:615378 |
NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639
|
|
G
|
SCN5A
|
sodium voltage-gated channel alpha subunit 5
|
|
IAGP
|
|
HPO |
PMID:10471492 |
MIM:113900 |
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
|
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G
|
SLC12A3
|
solute carrier family 12 member 3
|
|
IAGP
|
|
HPO |
|
ORPHA:358 |
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
|
|
G
|
SLC8A1
|
solute carrier family 8 member A1
|
|
IAGP
|
DNA:SNP: :rs4952632
|
RGD |
PMID:25055868 |
RGD:13605622 |
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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G
|
TLL1
|
tolloid like 1
|
|
IAGP
|
|
HPO |
|
ORPHA:99106 |
NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
|
|
|
G
|
ACVR1
|
activin A receptor type 1
|
|
IAGP
|
DNA:mutation:cds:R206H
|
RGD |
PMID:32727600 |
RGD:329337363 |
NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
|
|
G
|
GJA5
|
gap junction protein alpha 5
|
|
IAGP
|
|
HPO |
PMID:23348765 |
MIM:614049 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
G
|
IRX5
|
iroquois homeobox 5
|
|
IAGP
|
|
HPO |
PMID:22581230 PMID:34899143 |
MIM:611174 |
NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
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|
G
|
JUP
|
junction plakoglobin
|
|
IAGP
|
|
HPO |
PMID:11691526 PMID:17924338 |
MIM:601214 MIM:611528 |
NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
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|
G
|
PKP2
|
plakophilin 2
|
|
IAGP
|
|
HPO |
PMID:16549640 |
MIM:609040 |
NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
|
|
G
|
PRKAG2
|
protein kinase AMP-activated non-catalytic subunit gamma 2
|
|
IAGP
|
|
HPO |
PMID:11371514 PMID:11407343 PMID:15877279 |
MIM:194200 MIM:261740 MIM:600858 |
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
|
|
G
|
TMEM43
|
transmembrane protein 43
|
|
IAGP
|
|
HPO |
PMID:18313022 |
MIM:604400 |
NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
|
|
|
G
|
ABCB8
|
ATP binding cassette subfamily B member 8
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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|
NCBI chr 7:151,028,450...151,047,782
Ensembl chr 7:151,028,422...151,047,782
|
|
G
|
ABCC9
|
ATP binding cassette subfamily C member 9
|
|
IAGP
|
ClinVar Annotator: match by term: Prolonged QT interval
|
ClinVar |
|
|
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
|
|
G
|
ABCF1
|
ATP binding cassette subfamily F member 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 6:30,571,442...30,591,522
Ensembl chr 6:30,571,393...30,597,179
|
|
G
|
ABCF2
|
ATP binding cassette subfamily F member 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:151,211,484...151,227,205
Ensembl chr 7:151,211,484...151,227,205
|
|
G
|
ACADVL
|
acyl-CoA dehydrogenase very long chain
|
|
IAGP
|
|
HPO |
|
ORPHA:26793 |
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
|
|
G
|
ACSS2
|
acyl-CoA synthetase short chain family member 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,874,989...34,927,959
Ensembl chr20:34,872,146...34,927,962
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G
|
ACTL10
|
actin like 10
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:33,666,943...33,668,525
Ensembl chr20:33,666,943...33,668,525
|
|
G
|
ACTN2
|
actinin alpha 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:27532257 PMID:28492532 PMID:29247119 PMID:31983221 |
|
NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
|
|
G
|
AGAP3
|
ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:151,085,867...151,144,434
Ensembl chr 7:151,085,831...151,144,436
|
|
G
|
AHCY
|
adenosylhomocysteinase
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
|
|
G
|
AKAP8
|
A-kinase anchoring protein 8
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr19:15,353,385...15,379,787
Ensembl chr19:15,353,385...15,379,815
|
|
G
|
AKAP9
|
A-kinase anchoring protein 9
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18093912 PMID:21885989 PMID:22378279 PMID:22584458 PMID:23174487 PMID:23861362 PMID:24033266 PMID:24123366 PMID:24467814 PMID:24981977 PMID:25016126 PMID:25172201 PMID:25363768 PMID:25467552 PMID:25640679 PMID:25649125 PMID:25650408 PMID:25661095 PMID:25741868 PMID:26132555 PMID:26159999 PMID:26189708 PMID:26220970 PMID:26230511 PMID:26272908 PMID:26350513 PMID:26580448 PMID:26671970 PMID:26704558 PMID:26743238 PMID:27332903 PMID:27707468 PMID:28003625 PMID:28074886 PMID:28341588 PMID:28492532 PMID:28666525 PMID:28714951 PMID:28750076 PMID:28986455 PMID:29181379 PMID:29247119 PMID:29350269 PMID:29511324 PMID:29574703 PMID:29641532 PMID:29688227 PMID:30276209 PMID:30369311 PMID:30471092 PMID:30615648 PMID:30821013 PMID:30847666 PMID:30975432 PMID:31418098 PMID:31534214 PMID:31654968 PMID:31785789 PMID:31847883 PMID:32233023 PMID:32508047 PMID:33084842 PMID:33232181 PMID:33789662 PMID:34011629 PMID:34088380 PMID:34495297 PMID:34546463 PMID:35063694 PMID:35932045 PMID:36421840 More...
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|
NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
|
|
G
|
ALG10B
|
ALG10 alpha-1,2-glucosyltransferase B
|
|
IAGP
|
|
HPO |
PMID:34357002 |
MIM:613688 |
NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721
|
|
G
|
ALPK3
|
alpha kinase 3
|
|
IAGP
|
|
HPO |
PMID:27106955 |
MIM:618052 |
NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479
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|
G
|
ANK2
|
ankyrin 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome ClinVar Annotator: match by term: Prolong qt interval on ekg
|
ClinVar HPO |
PMID:9536098 PMID:11334825 PMID:12571597 PMID:15075330 PMID:15178757 PMID:15970537 PMID:16199547 PMID:16253912 PMID:16650839 PMID:16864073 PMID:17161064 PMID:17242276 PMID:17261669 PMID:17576681 PMID:17928548 PMID:17940615 PMID:18782775 PMID:18832177 PMID:19394342 PMID:19862833 PMID:22411828 PMID:22581653 PMID:22995991 PMID:23174487 PMID:23396983 PMID:23631430 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24448499 PMID:24828792 PMID:24981977 PMID:25333069 PMID:25351510 PMID:25447171 PMID:25632041 PMID:25649125 PMID:25650408 PMID:25661095 PMID:25741868 PMID:25877686 PMID:26132555 PMID:26159999 PMID:26164358 PMID:26168218 PMID:26220970 PMID:26230511 PMID:26350513 PMID:26771585 PMID:26899768 PMID:27005929 PMID:27110552 PMID:27135274 PMID:27298202 PMID:27332903 PMID:27391121 PMID:27435932 PMID:27650965 PMID:27784853 PMID:27824329 PMID:27871843 PMID:27875062 PMID:27930701 PMID:28074886 PMID:28166282 PMID:28166811 PMID:28191889 PMID:28255936 PMID:28263302 PMID:28341588 PMID:28492532 PMID:28518168 PMID:28589536 PMID:28600387 PMID:28736713 PMID:28750076 PMID:28831199 PMID:28855170 PMID:28988457 PMID:29071820 PMID:29133412 PMID:29247119 PMID:29431110 PMID:29706635 PMID:29784605 PMID:29790872 PMID:29874177 PMID:29892012 PMID:30036649 PMID:30086531 PMID:30276209 PMID:30369311 PMID:30415094 PMID:30471092 PMID:30564305 PMID:30615648 PMID:30821013 PMID:30847666 PMID:30975432 PMID:31130284 PMID:31264976 PMID:31638414 PMID:31737537 PMID:31862442 PMID:32183154 PMID:32233023 PMID:32461654 PMID:32508047 PMID:32600061 PMID:32746448 PMID:33004838 PMID:33029862 PMID:33762593 PMID:33919104 PMID:34088380 PMID:35352813 PMID:35982159 PMID:36413997 PMID:36693943 PMID:37089884 PMID:37195288 PMID:37901857 More...
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MIM:600919 |
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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|
G
|
ANKIB1
|
ankyrin repeat and IBR domain containing 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
|
|
G
|
ANKRD1
|
ankyrin repeat domain 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
|
|
G
|
ANKRD31
|
ankyrin repeat domain 31
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 5:75,068,297...75,236,878
Ensembl chr 5:75,068,275...75,236,911
|
|
G
|
AOC1
|
amine oxidase copper containing 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:150,852,120...150,861,504
Ensembl chr 7:150,824,627...150,861,504
|
|
G
|
ARHGAP22
|
Rho GTPase activating protein 22
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr10:48,429,831...48,656,265
Ensembl chr10:48,446,036...48,656,265
|
|
G
|
ARL13B
|
ARF like GTPase 13B
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 PMID:28492532 |
|
NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678
|
|
G
|
ARPC4
|
actin related protein 2/3 complex subunit 4
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101
|
|
G
|
ARPC4-TTLL3
|
ARPC4-TTLL3 readthrough
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401
|
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G
|
ARVCF
|
ARVCF delta catenin family member
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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G
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ASB10
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ankyrin repeat and SOCS box containing 10
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,175,698...151,187,792
Ensembl chr 7:151,175,698...151,187,832
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G
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ASCL2
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achaete-scute family bHLH transcription factor 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr11:2,268,498...2,270,588
Ensembl chr11:2,268,498...2,270,588
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G
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ASIC3
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acid sensing ion channel subunit 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,048,292...151,052,756
Ensembl chr 7:151,048,292...151,052,756
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G
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ASIP
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agouti signaling protein
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
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G
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ATG9B
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autophagy related 9B
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,012,209...151,024,499
Ensembl chr 7:151,012,209...151,024,499
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G
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ATL3
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atlastin GTPase 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921
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G
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BAG3
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BAG cochaperone 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:24033266 PMID:25617006 PMID:26512958 PMID:28492532 |
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NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
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G
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BAIAP3
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BAI1 associated protein 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr16:1,333,645...1,349,439
Ensembl chr16:1,333,638...1,349,439
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G
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BPTF
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bromodomain PHD finger transcription factor
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IAGP
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HPO |
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ORPHA:529962 |
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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G
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BRPF1
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bromodomain and PHD finger containing 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019
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G
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C11orf21
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chromosome 11 open reading frame 21
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr11:2,295,628...2,303,140
Ensembl chr11:2,295,628...2,303,049
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G
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C20orf144
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chromosome 20 open reading frame 144
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:33,662,327...33,663,908
Ensembl chr20:33,662,327...33,665,619
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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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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar HPO |
PMID:9536098 PMID:12166659 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 PMID:17224476 PMID:17576681 PMID:18250309 PMID:19061337 PMID:19074970 PMID:19225208 PMID:19687230 PMID:20031608 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22581653 PMID:22584458 PMID:22677788 PMID:22840528 PMID:22990809 PMID:23145875 PMID:23174487 PMID:23313911 PMID:23414114 PMID:23575362 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23677916 PMID:23678275 PMID:23690510 PMID:23861362 PMID:23979604 PMID:24033266 PMID:24055113 PMID:24183960 PMID:24321233 PMID:24439875 PMID:24690944 PMID:24728418 PMID:24773605 PMID:24981977 PMID:25184293 PMID:25260352 PMID:25333069 PMID:25341504 PMID:25447171 PMID:25500949 PMID:25633834 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25661095 PMID:25691416 PMID:25741868 PMID:26159999 PMID:26173111 PMID:26220970 PMID:26227324 PMID:26230511 PMID:26253506 PMID:26386135 PMID:26498160 PMID:26551885 PMID:26637798 PMID:26743238 PMID:26822303 PMID:27005929 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27580036 PMID:27593853 PMID:27662471 PMID:27707468 PMID:27711072 PMID:27868338 PMID:27871843 PMID:27920829 PMID:27925203 PMID:27930701 PMID:28211989 PMID:28341588 PMID:28371864 PMID:28492532 PMID:28493952 PMID:28518168 PMID:28600387 PMID:28616568 PMID:28704380 PMID:28750076 PMID:28878402 PMID:29016939 PMID:29046645 PMID:29071820 PMID:29247119 PMID:29396286 PMID:29396561 PMID:29568937 PMID:29754768 PMID:29915097 PMID:30025578 PMID:30172029 PMID:30279520 PMID:30345660 PMID:30471092 PMID:30504930 PMID:30513141 PMID:30530868 PMID:30662450 PMID:30847666 PMID:30984024 PMID:31004778 PMID:31130284 PMID:31293105 PMID:31335548 PMID:31376648 PMID:31408100 PMID:31430211 PMID:31453089 PMID:31539150 PMID:31729605 PMID:31737537 PMID:32145446 PMID:32161207 PMID:32233023 PMID:32368696 PMID:32461654 PMID:32625235 PMID:33191761 PMID:33203140 PMID:33488405 PMID:34079577 PMID:34163037 PMID:34222376 PMID:34495297 PMID:34999275 PMID:35205252 PMID:36007726 PMID:36436328 PMID:37227348 PMID:37901857 PMID:38849547 More...
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MIM:601005 MIM:620029 |
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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CACNA1C-AS1
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CACNA1C antisense RNA 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:9536098 PMID:17576681 PMID:20031608 PMID:20817017 PMID:22581653 PMID:22584458 PMID:22840528 PMID:23414114 PMID:23575362 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24690944 PMID:24728418 PMID:24981977 PMID:25184293 PMID:25260352 PMID:25447171 PMID:25633834 PMID:25637381 PMID:25650408 PMID:25661095 PMID:25741868 PMID:26159999 PMID:26173111 PMID:26230511 PMID:26386135 PMID:27005929 PMID:27218670 PMID:27502440 PMID:27662471 PMID:27707468 PMID:27711072 PMID:27871843 PMID:27930701 PMID:28492532 PMID:28493952 PMID:28518168 PMID:28750076 PMID:29046645 PMID:29396286 PMID:30279520 PMID:30345660 PMID:30471092 PMID:30504930 PMID:30662450 PMID:30847666 PMID:31335548 PMID:31376648 PMID:31453089 PMID:31539150 PMID:31737537 PMID:32145446 PMID:32368696 PMID:32461654 PMID:32625235 PMID:34163037 PMID:34999275 More...
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NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,668,500...2,812,944
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G
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CACNA1C-AS2
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CACNA1C antisense RNA 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr12:2,668,500...2,672,220
Ensembl chr12:2,668,500...2,672,220
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G
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CACNA1C-AS4
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CACNA1C antisense RNA 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr12:2,220,537...2,223,481
Ensembl chr12:2,219,485...2,223,479
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G
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CACNA1C-IT3
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CACNA1C intronic transcript 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr12:2,269,776...2,288,745
Ensembl chr12:2,269,700...2,303,577
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G
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CACNA1S
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calcium voltage-gated channel subunit alpha1 S
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar HPO |
PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 |
ORPHA:79102 |
NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
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G
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CACNA2D1
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calcium voltage-gated channel auxiliary subunit alpha2delta 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
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NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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G
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CACNA2D4
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calcium voltage-gated channel auxiliary subunit alpha2delta 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666
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G
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CACNB2
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calcium voltage-gated channel auxiliary subunit beta 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:20817017 PMID:22840528 PMID:23414114 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26636822 PMID:26707467 PMID:27650965 PMID:27711072 PMID:28492532 PMID:30027834 More...
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NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
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G
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CALM1
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calmodulin 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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HPO ClinVar |
PMID:25741868 PMID:25741871 PMID:39481677 |
MIM:616247 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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G
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CALM2
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calmodulin 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:24917665 PMID:27100291 PMID:27114410 PMID:27165696 PMID:27516456 PMID:28335032 PMID:28492532 PMID:31283864 More...
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NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
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G
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CAMK1
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calcium/calmodulin dependent protein kinase I
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992
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G
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CASQ2
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calsequestrin 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:12386154 PMID:20301466 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29915098 PMID:30775854 More...
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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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CAV3
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caveolin 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar HPO |
PMID:1146501 PMID:2705900 PMID:09536092 PMID:9536098 PMID:09537420 PMID:10227634 PMID:10464299 PMID:10746614 PMID:11001938 PMID:11251997 PMID:11353417 PMID:11431690 PMID:11532985 PMID:11756609 PMID:11805270 PMID:11884389 PMID:12082049 PMID:12269726 PMID:12666119 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:14647208 PMID:14672715 PMID:14749532 PMID:15099591 PMID:15318349 PMID:15564037 PMID:15580566 PMID:15668980 PMID:16723230 PMID:16730439 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:17405141 PMID:17537631 PMID:17556197 PMID:17576681 PMID:17897828 PMID:17994539 PMID:18253147 PMID:18487559 PMID:18509671 PMID:18583131 PMID:18606002 PMID:18671188 PMID:18930476 PMID:19238754 PMID:19380584 PMID:19697367 PMID:19726876 PMID:19773168 PMID:20229577 PMID:20472890 PMID:21182936 PMID:21294223 PMID:21404291 PMID:21610159 PMID:21660982 PMID:22245016 PMID:22378279 PMID:22581547 PMID:22584458 PMID:22595201 PMID:22976939 PMID:23465283 PMID:23631430 PMID:23640888 PMID:23861362 PMID:24021552 PMID:24033266 PMID:24070816 PMID:24123366 PMID:24503780 PMID:24917393 PMID:25214167 PMID:25351510 PMID:25630502 PMID:25741868 PMID:25757662 PMID:26132555 PMID:26159999 PMID:26185955 PMID:26404900 PMID:26467025 PMID:26498160 PMID:26947586 PMID:27061274 PMID:27066573 PMID:27184587 PMID:27312022 PMID:27483260 PMID:27600940 PMID:27772553 PMID:27854218 PMID:27930701 PMID:28232187 PMID:28407228 PMID:28492532 PMID:28807458 PMID:28810874 PMID:28837624 PMID:28877744 PMID:28898996 PMID:28981925 PMID:29396561 PMID:29501670 PMID:29961767 PMID:29970176 PMID:30055862 PMID:30153853 PMID:30174172 PMID:30564623 PMID:30704477 PMID:30723005 PMID:30847666 PMID:31036801 PMID:31043699 PMID:31127727 PMID:31638414 PMID:31737537 PMID:32004987 PMID:32419263 PMID:32528171 PMID:33874732 PMID:35026164 PMID:35027292 PMID:196973670 More...
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MIM:611818 |
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
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G
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CAVIN1
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caveolae associated protein 1
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IAGP
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HPO |
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MIM:613327 |
NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
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G
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CBFA2T2
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CBFA2/RUNX1 partner transcriptional co-repressor 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:33,490,096...33,650,030
Ensembl chr20:33,490,075...33,650,036
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G
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CCN3
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cellular communication network factor 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 8:119,416,446...119,424,434
Ensembl chr 8:119,416,446...119,424,434
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G
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CD276
|
CD276 molecule
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr15:73,683,944...73,714,514
Ensembl chr15:73,683,966...73,714,514
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G
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CD81
|
CD81 molecule
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
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G
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CDK5
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cyclin dependent kinase 5
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
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G
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CELSR1
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cadherin EGF LAG seven-pass G-type receptor 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620
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G
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CHMP4B
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charged multivesicular body protein 4B
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:33,811,348...33,854,366
Ensembl chr20:33,811,348...33,854,366
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G
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CHPF2
|
chondroitin polymerizing factor 2
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,232,483...151,238,822
Ensembl chr 7:151,232,483...151,240,979
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G
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CIDEC
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cell death inducing DFFA like effector c
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255
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G
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CIT
|
citron rho-interacting serine/threonine kinase
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
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NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320
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G
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CLCNKB
|
chloride voltage-gated channel Kb
|
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IAGP
|
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HPO |
|
ORPHA:358 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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G
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CPNE9
|
copine family member 9
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908
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G
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CRELD1
|
cysteine rich with EGF like domains 1
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413
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G
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CRYGN
|
crystallin gamma N
|
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
|
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NCBI chr 7:151,428,832...151,440,813
Ensembl chr 7:151,428,832...151,440,813
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G
|
CSRP3
|
cysteine and glycine rich protein 3
|
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IAGP
|
ClinVar Annotator: match by term: Prolonged QT interval
|
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28790153 PMID:29255176 PMID:30847666 More...
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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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CTNNA3
|
catenin alpha 3
|
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28416588 PMID:28492532 |
|
NCBI chr10:65,912,523...67,763,594
Ensembl chr10:65,912,457...67,763,637
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G
|
CTRL
|
chymotrypsin like
|
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr16:67,929,574...67,931,862
Ensembl chr16:67,927,640...67,932,365
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|
G
|
CYP51A1
|
cytochrome P450 family 51 subfamily A member 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:23861362 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803
|
|
G
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CYP51A1-AS1
|
CYP51A1 antisense RNA 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,134,563...92,180,725
Ensembl chr 7:92,134,563...92,180,725
|
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G
|
DCP1B
|
decapping mRNA 1B
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:1,941,591...2,004,457
Ensembl chr12:1,946,053...2,004,535
|
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G
|
DIP2A
|
disco interacting protein 2 homolog A
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr21:46,458,891...46,583,871
Ensembl chr21:46,458,891...46,572,743
|
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G
|
DMD
|
dystrophin
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:18583217 PMID:24033266 PMID:24690944 PMID:25741868 PMID:26467025 PMID:28492532 PMID:37713468 More...
|
|
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
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G
|
DNA2
|
DNA replication helicase/nuclease 2
|
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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G
|
DNAJC19
|
DnaJ heat shock protein family (Hsp40) member C19
|
|
IAGP
|
|
HPO |
PMID:16055927 |
MIM:610198 ORPHA:66634 |
NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
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|
G
|
DPAGT1
|
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
|
|
IAGP
|
|
HPO |
|
ORPHA:86309 |
NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
|
|
G
|
DPP6
|
dipeptidyl peptidase like 6
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
|
|
NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285
|
|
G
|
DSC2
|
desmocollin 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:23861362 PMID:24832006 PMID:25741868 PMID:28492532 PMID:30371277 PMID:31397097 PMID:32268277 More...
|
|
NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
|
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G
|
DSG2
|
desmoglein 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 PMID:19569224 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20716751 PMID:20857253 PMID:20864495 PMID:21455723 PMID:21606390 PMID:23071725 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28087566 PMID:28472724 PMID:28492532 PMID:29038103 PMID:32268277 PMID:35087879 More...
|
|
NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
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G
|
DSG2-AS1
|
DSG2 antisense RNA 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
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G
|
DSP
|
desmoplakin
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:9536098 PMID:16467215 PMID:16774985 PMID:17576681 PMID:18382419 PMID:18632414 PMID:19863551 PMID:19924139 PMID:20524011 PMID:20525856 PMID:20716751 PMID:20738328 PMID:21062920 PMID:21264154 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21723241 PMID:21859740 PMID:23292937 PMID:23299917 PMID:23861362 PMID:23911551 PMID:24033266 PMID:24070718 PMID:24125834 PMID:24503780 PMID:25225338 PMID:25227139 PMID:25693453 PMID:25741868 PMID:26230511 PMID:26383259 PMID:26585738 PMID:26656175 PMID:27097650 PMID:27153395 PMID:27532257 PMID:28074886 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28759816 PMID:29062697 PMID:29511324 PMID:29915097 PMID:30354334 PMID:30382575 PMID:30398466 PMID:30847666 PMID:30993396 PMID:31402444 PMID:31514951 PMID:31737537 PMID:32277046 PMID:32372669 PMID:32826072 PMID:34026522 PMID:34033898 PMID:34290054 PMID:35083019 PMID:35352813 More...
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|
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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|
G
|
DYNLRB1
|
dynein light chain roadblock-type 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,515,602...34,540,958
Ensembl chr20:34,516,395...34,540,958
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|
G
|
E2F1
|
E2F transcription factor 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
|
|
G
|
EDEM2
|
ER degradation enhancing alpha-mannosidase like protein 2
|
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:35,115,364...35,147,336
Ensembl chr20:35,115,364...35,147,336
|
|
G
|
EIF2S2
|
eukaryotic translation initiation factor 2 subunit beta
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,088,309...34,112,243
Ensembl chr20:34,088,309...34,112,243
|
|
G
|
ELMOD2
|
ELMO domain containing 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 4:140,524,168...140,553,770
Ensembl chr 4:140,524,168...140,553,770
|
|
G
|
ERAP1
|
endoplasmic reticulum aminopeptidase 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
|
|
G
|
FASTK
|
Fas activated serine/threonine kinase
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:151,076,624...151,080,809
Ensembl chr 7:151,076,624...151,080,866
|
|
G
|
FGF2
|
fibroblast growth factor 2
|
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
|
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G
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FSIP2
|
fibrous sheath interacting protein 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290
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G
|
FSIP2-AS1
|
FSIP2 antisense RNA 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 2:185,783,691...185,800,151
Ensembl chr 2:185,653,303...185,864,985
|
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G
|
GAA
|
alpha glucosidase
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
|
|
G
|
GABRA3
|
gamma-aminobutyric acid type A receptor subunit alpha3
|
|
IAGP
|
|
HPO |
|
ORPHA:79102 |
NCBI chr X:152,166,234...152,451,315
Ensembl chr X:152,166,234...152,451,315
|
|
G
|
GALNT11
|
polypeptide N-acetylgalactosaminyltransferase 11
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:152,025,674...152,122,340
Ensembl chr 7:152,025,674...152,122,340
|
|
G
|
GALNTL5
|
polypeptide N-acetylgalactosaminyltransferase like 5
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:151,956,446...152,019,929
Ensembl chr 7:151,956,379...152,019,929
|
|
G
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075
|
|
G
|
GBX1
|
gastrulation brain homeobox 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:151,148,009...151,167,694
Ensembl chr 7:151,148,009...151,174,745
|
|
G
|
GGT7
|
gamma-glutamyltransferase 7
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,844,720...34,872,856
Ensembl chr20:34,844,720...34,872,856
|
|
G
|
GH-LCR
|
growth hormone locus control region
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr17:63,917,193...63,958,852
|
|
G
|
GIMAP1
|
GTPase, IMAP family member 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:150,716,613...150,724,284
Ensembl chr 7:150,716,606...150,724,284
|
|
G
|
GIMAP2
|
GTPase, IMAP family member 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:150,685,706...150,693,641
Ensembl chr 7:150,685,697...150,693,641
|
|
G
|
GIMAP4
|
GTPase, IMAP family member 4
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 |
|
NCBI chr 7:150,567,390...150,573,953
Ensembl chr 7:150,567,369...150,573,953
|
|
G
|
GIMAP5
|
GTPase, IMAP family member 5
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033
|
|
G
|
GIMAP6
|
GTPase, IMAP family member 6
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:150,625,375...150,632,385
Ensembl chr 7:150,625,375...150,632,648
|
|
G
|
GIMAP7
|
GTPase, IMAP family member 7
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 |
|
NCBI chr 7:150,514,872...150,521,073
Ensembl chr 7:150,514,872...150,521,073
|
|
G
|
GIMAP8
|
GTPase, IMAP family member 8
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 |
|
NCBI chr 7:150,450,630...150,479,393
Ensembl chr 7:150,450,630...150,479,393
|
|
G
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
IAGP
|
|
HPO |
PMID:23768512 |
MIM:615351 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
|
|
G
|
GNAI2
|
G protein subunit alpha i2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362
|
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G
|
GNAS
|
GNAS complex locus
|
|
IAGP
|
|
HPO |
|
ORPHA:79443 ORPHA:79444 ORPHA:94089 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
|
|
G
|
GPATCH2
|
G-patch domain containing 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090
|
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G
|
GPC3
|
glypican 3
|
|
IAGP
|
|
HPO |
|
ORPHA:373 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
|
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G
|
GPC4
|
glypican 4
|
|
IAGP
|
|
HPO |
|
ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
|
|
G
|
GPD1L
|
glycerol-3-phosphate dehydrogenase 1 like
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:11839626 PMID:15140536 PMID:17967976 PMID:17967977 PMID:19606473 PMID:19666841 PMID:19745168 PMID:19815826 PMID:20724705 PMID:22995991 PMID:23414114 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25741879 PMID:25998140 PMID:26743238 PMID:27435932 PMID:28008009 PMID:28492532 PMID:28798025 PMID:28837624 PMID:31618753 PMID:32695137 PMID:38962240 PMID:39481677 More...
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|
NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
|
|
G
|
GSS
|
glutathione synthetase
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
|
|
G
|
GUF1
|
GTP binding elongation factor GUF1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928
|
|
G
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
IAGP
|
|
HPO |
|
ORPHA:71212 |
NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241
|
|
G
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
|
|
G
|
HK3
|
hexokinase 3
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 5:176,880,869...176,899,346
Ensembl chr 5:176,880,869...176,899,346
|
|
G
|
HKDC1
|
hexokinase domain containing 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr10:69,220,332...69,267,552
Ensembl chr10:69,220,332...69,267,552
|
|
G
|
HNRNPM
|
heterogeneous nuclear ribonucleoprotein M
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr19:8,444,975...8,489,114
Ensembl chr19:8,444,767...8,489,114
|
|
G
|
IL17RC
|
interleukin 17 receptor C
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
|
|
G
|
IL17RE
|
interleukin 17 receptor E
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402
|
|
G
|
ILK
|
integrin linked kinase
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:6,603,774...6,610,870
Ensembl chr11:6,603,708...6,610,874
|
|
G
|
INTS8
|
integrator complex subunit 8
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746
|
|
G
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
|
|
G
|
JAGN1
|
jagunal homolog 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349
|
|
G
|
JPH2
|
junctophilin 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
|
|
G
|
JUP
|
junction plakoglobin
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
|
|
G
|
KCND3
|
potassium voltage-gated channel subfamily D member 3
|
|
IAGP
|
|
HPO |
PMID:21349352 |
MIM:616399 |
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
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar HPO |
PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:9834138 PMID:10400998 PMID:10428953 PMID:10807545 PMID:10973849 PMID:11320260 PMID:11692163 PMID:11874988 PMID:12402336 PMID:12566567 PMID:14499862 PMID:14661677 PMID:14760488 PMID:15051636 PMID:15599693 PMID:15840476 PMID:16132053 PMID:16155735 PMID:16266404 PMID:16379539 PMID:16414944 PMID:16487223 PMID:16818210 PMID:16823764 PMID:16887036 PMID:16914890 PMID:16922724 PMID:16945797 PMID:17016049 PMID:17130521 PMID:17161064 PMID:17210839 PMID:17341399 PMID:17545244 PMID:17597962 PMID:18426444 PMID:18752142 PMID:18776039 PMID:19008479 PMID:19214780 PMID:19219384 PMID:19305408 PMID:19340287 PMID:19521339 PMID:19695459 PMID:19716085 PMID:19841298 PMID:19862833 PMID:19907016 PMID:20541041 PMID:20823649 PMID:21070882 PMID:21152909 PMID:21244686 PMID:21576493 PMID:21712262 PMID:21854832 PMID:21907427 PMID:21967835 PMID:22100668 PMID:22166941 PMID:22378279 PMID:22429796 PMID:22471742 PMID:22581653 PMID:22934933 PMID:23098067 PMID:23124029 PMID:23174487 PMID:23382499 PMID:23396983 PMID:23510998 PMID:23631430 PMID:23861362 PMID:24033266 PMID:24217263 PMID:24314077 PMID:24400172 PMID:24499369 PMID:24561134 PMID:24606995 PMID:24631775 PMID:24667783 PMID:24710009 PMID:25037568 PMID:25351510 PMID:25535795 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25737393 PMID:25741868 PMID:25956966 PMID:25998140 PMID:26132555 PMID:26159999 PMID:26187847 PMID:26220970 PMID:26410412 PMID:26467025 PMID:26675252 PMID:26715165 PMID:26743238 PMID:26899768 PMID:26926294 PMID:27076034 PMID:27871843 PMID:28003625 PMID:28018021 PMID:28176637 PMID:28472724 PMID:28492532 PMID:28589536 PMID:28600387 PMID:28616568 PMID:28767663 PMID:28807990 PMID:28988457 PMID:29032884 PMID:29247119 PMID:29261713 PMID:29625280 PMID:29672598 PMID:29766885 PMID:30020974 PMID:30079003 PMID:30123799 PMID:30245029 PMID:30461122 PMID:30530868 PMID:30847666 PMID:30910390 PMID:30975432 PMID:31043699 PMID:31308327 PMID:31337358 PMID:31376648 PMID:31447099 PMID:31521807 PMID:31535183 PMID:31737537 PMID:31835641 PMID:31941373 PMID:31983240 PMID:32058015 PMID:32145446 PMID:32164657 PMID:32344329 PMID:32429735 PMID:32451364 PMID:32470535 PMID:34395343 PMID:34403091 PMID:34426522 PMID:34930020 PMID:35027292 PMID:35373836 PMID:38489124 PMID:38816749 PMID:39082327 More...
|
MIM:612347 |
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
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar HPO |
PMID:10219239 PMID:10220144 PMID:10984545 PMID:11468227 PMID:12402336 PMID:14661677 PMID:14760488 PMID:15368194 PMID:15599693 PMID:15840476 PMID:15913580 PMID:16487223 PMID:16922724 PMID:17161064 PMID:17210839 PMID:17275752 PMID:17310097 PMID:18006462 PMID:19219384 PMID:19716085 PMID:20042375 PMID:20817017 PMID:22166675 PMID:22378279 PMID:22581653 PMID:22677073 PMID:23465283 PMID:23631430 PMID:23631727 PMID:23861362 PMID:23936059 PMID:24055113 PMID:24403551 PMID:24569893 PMID:24631775 PMID:24681347 PMID:24796621 PMID:25333069 PMID:25351510 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25741880 PMID:26123744 PMID:26159999 PMID:26220970 PMID:26633542 PMID:26859003 PMID:27435932 PMID:27465075 PMID:27650965 PMID:27920829 PMID:28492532 PMID:28600387 PMID:28794082 PMID:29661707 PMID:29805884 PMID:30847666 PMID:30986657 PMID:31235733 PMID:31447099 PMID:31521807 PMID:31535183 PMID:31737537 PMID:32268277 PMID:33626434 PMID:39481677 More...
|
MIM:613693 |
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
|
|
IAGP
|
ClinVar Annotator: match by term: Prolonged QT interval ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
|
|
G
|
KCNH2
|
potassium voltage-gated channel subfamily H member 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome ClinVar Annotator: match by term: Prolonged QT interval
|
ClinVar HPO |
PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 PMID:1100946 PMID:1813917 PMID:2294929 PMID:2563738 PMID:2581653 PMID:5417810 PMID:7889573 PMID:8635257 PMID:8700910 PMID:8799887 PMID:8877771 PMID:8914737 PMID:8995352 PMID:9024139 PMID:9452080 PMID:9536098 PMID:9544837 PMID:9600240 PMID:9693036 PMID:9694858 PMID:9721698 PMID:9927399 PMID:9973011 PMID:10086971 PMID:10187793 PMID:10220144 PMID:10226095 PMID:10483966 PMID:10517660 PMID:10560244 PMID:10565858 PMID:10690305 PMID:10744792 PMID:10753933 PMID:10807545 PMID:10841244 PMID:10862094 PMID:10862104 PMID:10973849 PMID:10987356 PMID:10996323 PMID:11009462 PMID:11113008 PMID:11170080 PMID:11222472 PMID:11278781 PMID:11334843 PMID:11468227 PMID:11524404 PMID:11668638 PMID:11668641 PMID:11741928 PMID:11802537 PMID:11854117 PMID:11997281 PMID:12021266 PMID:12062363 PMID:12175777 PMID:12270925 PMID:12354768 PMID:12402336 PMID:12407082 PMID:12477631 PMID:12554641 PMID:12566525 PMID:12621127 PMID:12690509 PMID:12741719 PMID:12775564 PMID:12775586 PMID:12808265 PMID:12829173 PMID:12837749 PMID:12877697 PMID:14521653 PMID:14642687 PMID:14661677 PMID:14714110 PMID:14720170 PMID:14760488 PMID:14975928 PMID:14998624 PMID:15051636 PMID:15090700 PMID:15120823 PMID:15176425 PMID:15181157 PMID:15242738 PMID:15280442 PMID:15364333 PMID:15371638 PMID:15466642 PMID:15475579 PMID:15500450 PMID:15522280 PMID:15541256 PMID:15545400 PMID:15572050 PMID:15572053 PMID:15599693 PMID:15670565 PMID:15733182 PMID:15746444 PMID:15840476 PMID:15851119 PMID:15851171 PMID:15851652 PMID:15913580 PMID:16029385 PMID:16043162 PMID:16116052 PMID:16132053 PMID:16155735 PMID:16166152 PMID:16199547 PMID:16244680 PMID:16253912 PMID:16253915 PMID:16265869 PMID:16379539 PMID:16414944 PMID:16432067 PMID:16470702 PMID:16487223 PMID:16720674 PMID:16754261 PMID:16818214 PMID:16831322 PMID:16842670 PMID:16922724 PMID:16923798 PMID:16937190 PMID:17060380 PMID:17088455 PMID:17160940 PMID:17161064 PMID:17171344 PMID:17192539 PMID:17210839 PMID:17222736 PMID:17224687 PMID:17275752 PMID:17293393 PMID:17438606 PMID:17438609 PMID:17445409 PMID:17531263 PMID:17569659 PMID:17576681 PMID:17576861 PMID:17597962 PMID:17823114 PMID:17905336 PMID:18004376 PMID:18060054 PMID:18093521 PMID:18222468 PMID:18222980 PMID:18348270 PMID:18362022 PMID:18386051 PMID:18426444 PMID:18441445 PMID:18464931 PMID:18468596 PMID:18508782 PMID:18551196 PMID:18593567 PMID:18596570 PMID:18675227 PMID:18690032 PMID:18692916 PMID:18752142 PMID:18774102 PMID:18776039 PMID:18799333 PMID:18808722 PMID:18848812 PMID:18955593 PMID:19019189 PMID:19038855 PMID:19057127 PMID:19070294 PMID:19136169 PMID:19139152 PMID:19160088 PMID:19169982 PMID:19172259 PMID:19174314 PMID:19184172 PMID:19305409 PMID:19306396 PMID:19322600 PMID:19324319 PMID:19340359 PMID:19352046 PMID:19413965 PMID:19419905 PMID:19443486 PMID:19490267 PMID:19490382 PMID:19597050 PMID:19668779 PMID:19673885 PMID:19694797 PMID:19695459 PMID:19716085 PMID:19731233 PMID:19804510 PMID:19841298 PMID:19841299 PMID:19841300 PMID:19843919 PMID:19862833 PMID:19926013 PMID:19996378 PMID:20133899 PMID:20167303 PMID:20181576 PMID:20197117 PMID:20301308 PMID:20348026 PMID:20386770 PMID:20486126 PMID:20541041 PMID:20544339 PMID:20659946 PMID:20670193 PMID:20674198 PMID:20833965 PMID:20850565 PMID:20851114 PMID:20876384 PMID:20950623 PMID:20960616 PMID:20960620 PMID:20975234 PMID:20979233 PMID:21035456 PMID:21057041 PMID:21063070 PMID:21070882 PMID:21109023 PMID:21130771 PMID:21130900 PMID:21185499 PMID:21185501 PMID:21215473 PMID:21216356 PMID:21240260 PMID:21244686 PMID:21295269 PMID:21308345 PMID:21350584 PMID:21367833 PMID:21376840 PMID:21410720 PMID:21419236 PMID:21440677 PMID:21483829 PMID:21490315 PMID:21499742 PMID:21536673 PMID:21573751 PMID:21661061 PMID:21703926 PMID:21737021 PMID:21769575 PMID:21777565 PMID:21779290 PMID:21798421 PMID:21806934 PMID:21911102 PMID:21956039 PMID:21960720 PMID:22052944 PMID:22067087 PMID:22104571 PMID:22173492 PMID:22314138 PMID:22338672 PMID:22359612 PMID:22378279 PMID:22382559 PMID:22396785 PMID:22402074 PMID:22402334 PMID:22407026 PMID:22429796 PMID:22515331 PMID:22573844 PMID:22580281 PMID:22581653 PMID:22584458 PMID:22653970 PMID:22677073 PMID:22727609 PMID:22764740 PMID:22821100 PMID:22876326 PMID:22882672 PMID:22885918 PMID:22927196 PMID:22947121 PMID:22949429 PMID:22995991 PMID:23010577 PMID:23022675 PMID:23098067 PMID:23124029 PMID:23136156 PMID:23139254 PMID:23158531 PMID:23174487 PMID:23207121 PMID:23266818 PMID:23300672 PMID:23303164 PMID:23304551 PMID:23316740 PMID:23338923 PMID:23347029 PMID:23351921 PMID:23382499 PMID:23465283 PMID:23470493 PMID:23471968 PMID:23546015 PMID:23571586 PMID:23631430 PMID:23721480 PMID:23861362 PMID:23890619 PMID:23899126 PMID:23935525 PMID:23936059 PMID:23975098 PMID:23980196 PMID:23995044 PMID:24015048 PMID:24021552 PMID:24033266 PMID:24055113 PMID:24057343 PMID:24103226 PMID:24190697 PMID:24204727 PMID:24217263 PMID:24223155 PMID:24291113 PMID:24322056 PMID:24334129 PMID:24363352 PMID:24388587 PMID:24400717 PMID:24530480 PMID:24596401 PMID:24606930 PMID:24606995 PMID:24623279 PMID:24631775 PMID:24667783 PMID:24679481 PMID:24725272 PMID:24973560 PMID:25008322 PMID:25028483 PMID:25063820 PMID:25074935 PMID:25119684 PMID:25140878 PMID:25158096 PMID:25254341 PMID:25254353 PMID:25294783 PMID:25348405 PMID:25351510 PMID:25417810 PMID:25447171 PMID:25576780 PMID:25606385 PMID:25608792 PMID:25626866 PMID:25637381 PMID:25640679 PMID:25649125 PMID:25741868 PMID:25741882 PMID:25741883 PMID:25741884 PMID:25741885 PMID:25809256 PMID:25819988 PMID:25914329 PMID:25923442 PMID:25925977 PMID:25929701 PMID:25947924 PMID:25967940 PMID:25974115 PMID:26063740 PMID:26066609 PMID:26105569 PMID:26129877 PMID:26132555 PMID:26147798 PMID:26159999 PMID:26164358 PMID:26173150 PMID:26187847 PMID:26189708 PMID:26213684 PMID:26220970 PMID:26228265 PMID:26332594 PMID:26403377 PMID:26467025 PMID:26496715 PMID:26669661 PMID:26675252 PMID:26688388 PMID:26704558 PMID:26715165 PMID:26743238 PMID:26746457 PMID:26772437 PMID:26846766 PMID:26847485 PMID:26920202 PMID:26937405 PMID:26958806 PMID:26986070 PMID:27000522 PMID:27025590 PMID:27026747 PMID:27041096 PMID:27064559 PMID:27153395 PMID:27251404 PMID:27261823 PMID:27379800 PMID:27492745 PMID:27555138 PMID:27650965 PMID:27711072 PMID:27761169 PMID:27803431 PMID:27807201 PMID:27816319 PMID:27871843 PMID:27920829 PMID:27930701 PMID:28003625 PMID:28012188 PMID:28049825 PMID:28082916 PMID:28087566 PMID:28235848 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28280240 PMID:28302345 PMID:28349240 PMID:28360401 PMID:28431243 PMID:28438721 PMID:28449774 PMID:28472724 PMID:28488422 PMID:28491588 PMID:28492532 PMID:28532774 PMID:28549997 PMID:28566242 PMID:28589536 PMID:28606196 PMID:28704380 PMID:28749187 PMID:28749435 PMID:28794082 PMID:28798025 PMID:28807990 PMID:28855170 PMID:28861002 PMID:28912206 PMID:28988457 PMID:29016752 PMID:29016939 PMID:29020304 PMID:29037423 PMID:29117522 PMID:29192238 PMID:29247119 PMID:29255176 PMID:29305421 PMID:29330128 PMID:29331839 PMID:29343803 PMID:29396286 PMID:29396561 PMID:29431731 PMID:29497013 PMID:29517769 PMID:29544605 PMID:29555771 PMID:29622001 PMID:29661707 PMID:29672598 PMID:29725305 PMID:29727688 PMID:29752375 PMID:29759541 PMID:29766883 PMID:29766885 PMID:29881912 PMID:29884292 PMID:29904349 PMID:29925740 PMID:29957233 PMID:30012873 PMID:30036649 PMID:30041777 PMID:30086531 PMID:30123799 PMID:30244407 PMID:30246897 PMID:30276209 PMID:30291343 PMID:30327538 PMID:30369311 PMID:30403391 PMID:30471092 PMID:30481776 PMID:30530868 PMID:30533098 PMID:30615648 PMID:30662450 PMID:30770456 PMID:30844837 PMID:30847666 PMID:30929919 PMID:30975432 PMID:30988392 PMID:30996762 PMID:31114860 PMID:31137166 PMID:31320904 PMID:31337358 PMID:31358886 PMID:31448785 PMID:31493592 PMID:31521807 PMID:31522018 PMID:31535183 PMID:31539150 PMID:31557540 PMID:31589614 PMID:31610692 PMID:31618753 PMID:31628797 PMID:31696929 PMID:31729605 PMID:31737537 PMID:31844156 PMID:31882846 PMID:32009526 PMID:32011662 PMID:32038248 PMID:32048431 PMID:32145446 PMID:32191791 PMID:32233023 PMID:32238909 PMID:32268277 PMID:32311972 PMID:32321643 PMID:32383558 PMID:32392813 PMID:32421437 PMID:32475984 PMID:32508047 PMID:32659924 PMID:32686758 PMID:32759882 PMID:32843460 PMID:32893267 PMID:32940533 PMID:33029862 PMID:33087929 PMID:33190517 PMID:33198487 PMID:33258288 PMID:33449212 PMID:33450182 PMID:33517668 PMID:33764691 PMID:34002542 PMID:34026292 PMID:34135346 PMID:34309407 PMID:34319147 PMID:34357002 PMID:34363016 PMID:34426522 PMID:34495297 PMID:34502138 PMID:34531279 PMID:34546463 PMID:34712263 PMID:34716268 PMID:34801551 PMID:34841674 PMID:34884666 PMID:34930020 PMID:35091851 PMID:35113648 PMID:35253369 PMID:35352813 PMID:35470680 PMID:35492841 PMID:35688147 PMID:35688148 PMID:35911527 PMID:35932045 PMID:36102233 PMID:36136372 PMID:36138163 PMID:36197721 PMID:36203036 PMID:36269083 PMID:36303204 PMID:36312261 PMID:36339618 PMID:36525500 PMID:36861347 PMID:37187232 PMID:37324772 PMID:37386841 PMID:37449562 PMID:37589201 PMID:37901857 PMID:37904629 PMID:37937776 PMID:38219013 PMID:38489124 PMID:38648771 PMID:39481677 More...
|
MIM:613688 |
NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
|
|
G
|
KCNJ18
|
potassium inwardly rectifying channel subfamily J member 18
|
|
IAGP
|
|
HPO |
|
ORPHA:79102 |
NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
|
|
G
|
KCNJ2
|
potassium inwardly rectifying channel subfamily J member 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar HPO |
PMID:15922306 PMID:17581963 PMID:19041665 PMID:19111761 PMID:21875779 PMID:22581653 PMID:22944906 PMID:23631430 PMID:25223803 PMID:25410959 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28600387 PMID:28711067 PMID:29247119 PMID:30665703 PMID:31521807 PMID:34426522 PMID:34516623 PMID:35352813 PMID:35456365 More...
|
MIM:170390 ORPHA:37553 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
|
|
G
|
KCNJ5
|
potassium inwardly rectifying channel subfamily J member 5
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar HPO |
PMID:9536098 PMID:11278615 PMID:17576681 PMID:17967416 PMID:20560207 PMID:21311022 PMID:22203740 PMID:22308486 PMID:22315453 PMID:22645387 PMID:24037882 PMID:24123366 PMID:24420545 PMID:24506072 PMID:24574546 PMID:24819081 PMID:25057880 PMID:25347571 PMID:25417227 PMID:25741868 PMID:25974737 PMID:26247594 PMID:26350513 PMID:26986070 PMID:27099398 PMID:27293068 PMID:27707468 PMID:28032242 PMID:28447626 PMID:28492532 PMID:28986455 PMID:29016797 PMID:29287775 PMID:29396561 PMID:29467578 PMID:29726953 PMID:30086531 PMID:30764634 PMID:30847666 PMID:30975432 PMID:31388123 PMID:31521807 PMID:31737537 PMID:31847883 PMID:34426522 PMID:34846128 PMID:34957562 More...
|
ORPHA:251274 ORPHA:37553 |
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
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:25998140 PMID:28492532 PMID:28750076 |
|
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
|
|
G
|
KCNJ8-AS1
|
KCNJ8 antisense RNA 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:25998140 PMID:28492532 PMID:28750076 |
|
NCBI chr12:21,662,313...21,829,261
|
|
G
|
KCNQ1
|
potassium voltage-gated channel subfamily Q member 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome ClinVar Annotator: match by term: Prolonged QT interval
|
ClinVar HPO |
PMID:234416 PMID:234478 PMID:234493 PMID:234515 PMID:234518 PMID:280141 PMID:280145 PMID:737968 PMID:738035 PMID:752693 PMID:1000359 PMID:1346223 PMID:1467812 PMID:1484536 PMID:1584047 PMID:1918417 PMID:1984130 PMID:2294929 PMID:2313012 PMID:2654361 PMID:3189954 PMID:8487283 PMID:8528244 PMID:8818942 PMID:8872472 PMID:9020846 PMID:9024139 PMID:9164812 PMID:9272155 PMID:9302275 PMID:9312006 PMID:9323054 PMID:9328483 PMID:9386136 PMID:9482580 PMID:9536098 PMID:9570196 PMID:9641694 PMID:9654228 PMID:9693036 PMID:9781056 PMID:9799083 PMID:9927399 PMID:10024302 PMID:10077519 PMID:10086971 PMID:10090529 PMID:10090886 PMID:10220144 PMID:10220146 PMID:10367071 PMID:10376919 PMID:10409658 PMID:10477533 PMID:10482963 PMID:10483966 PMID:10508236 PMID:10560595 PMID:10654932 PMID:10704188 PMID:10728423 PMID:10737999 PMID:10807545 PMID:10868744 PMID:10874277 PMID:10973849 PMID:11021476 PMID:11087258 PMID:11140949 PMID:11162126 PMID:11216980 PMID:11226272 PMID:11278406 PMID:11410559 PMID:11530100 PMID:11668638 PMID:11684219 PMID:11761407 PMID:11799244 PMID:11802537 PMID:11997281 PMID:12051962 PMID:12205113 PMID:12205790 PMID:12388934 PMID:12402336 PMID:12442276 PMID:12442296 PMID:12477631 PMID:12522251 PMID:12566525 PMID:12653681 PMID:12690509 PMID:12702160 PMID:12710526 PMID:12736279 PMID:12808265 PMID:12820704 PMID:12835205 PMID:12877697 PMID:14510661 PMID:14531214 PMID:14576198 PMID:14661676 PMID:14661677 PMID:14678125 PMID:14731347 PMID:14756674 PMID:14760488 PMID:14998624 PMID:15028050 PMID:15051636 PMID:15140888 PMID:15159330 PMID:15176425 PMID:15192825 PMID:15214551 PMID:15234419 PMID:15242738 PMID:15466642 PMID:15469540 PMID:15498462 PMID:15500450 PMID:15511625 PMID:15528464 PMID:15547041 PMID:15635208 PMID:15649981 PMID:15733182 PMID:15746441 PMID:15781747 PMID:15840476 PMID:15851119 PMID:15851171 PMID:15913580 PMID:15935335 PMID:16038262 PMID:16039274 PMID:16109388 PMID:16132053 PMID:16155735 PMID:16199547 PMID:16244680 PMID:16246960 PMID:16253915 PMID:16414944 PMID:16436635 PMID:16487223 PMID:16534005 PMID:16542208 PMID:16556865 PMID:16556866 PMID:16564513 PMID:16623272 PMID:16627448 PMID:16818214 PMID:16831322 PMID:16922724 PMID:16931984 PMID:16937190 PMID:16981927 PMID:16987820 PMID:17016049 PMID:17053194 PMID:17088455 PMID:17091796 PMID:17161064 PMID:17192539 PMID:17210839 PMID:17222736 PMID:17224687 PMID:17227916 PMID:17292394 PMID:17329207 PMID:17329209 PMID:17438609 PMID:17467628 PMID:17470695 PMID:17482572 PMID:17576681 PMID:17597962 PMID:17698596 PMID:17704175 PMID:17905336 PMID:17932138 PMID:17984373 PMID:17997361 PMID:17999538 PMID:18004376 PMID:18079560 PMID:18165683 PMID:18174212 PMID:18222468 PMID:18239739 PMID:18308161 PMID:18398469 PMID:18400097 PMID:18426444 PMID:18452873 PMID:18464931 PMID:18580685 PMID:18599533 PMID:18611041 PMID:18651418 PMID:18713323 PMID:18752142 PMID:18774102 PMID:18808722 PMID:19008479 PMID:19017345 PMID:19027783 PMID:19041715 PMID:19114714 PMID:19124472 PMID:19160088 PMID:19165230 PMID:19184172 PMID:19198868 PMID:19261104 PMID:19322600 PMID:19348785 PMID:19490272 PMID:19540844 PMID:19549851 PMID:19590188 PMID:19632626 PMID:19646991 PMID:19684871 PMID:19693805 PMID:19716085 PMID:19808498 PMID:19815527 PMID:19825999 PMID:19841298 PMID:19841300 PMID:19843919 PMID:19862833 PMID:19934648 PMID:19959132 PMID:19996378 PMID:20031635 PMID:20040519 PMID:20044973 PMID:20138589 PMID:20167303 PMID:20186784 PMID:20196769 PMID:20226272 PMID:20301308 PMID:20348026 PMID:20368164 PMID:20399767 PMID:20403459 PMID:20421371 PMID:20436212 PMID:20479111 PMID:20486126 PMID:20487114 PMID:20541041 PMID:20659946 PMID:20660394 PMID:20662986 PMID:20833965 PMID:20850564 PMID:20851114 PMID:20920651 PMID:20981092 PMID:20981542 PMID:21063070 PMID:21070882 PMID:21118729 PMID:21129503 PMID:21131640 PMID:21152909 PMID:21164565 PMID:21185501 PMID:21215473 PMID:21241800 PMID:21244686 PMID:21320432 PMID:21350584 PMID:21380488 PMID:21451124 PMID:21482651 PMID:21499742 PMID:21511995 PMID:21576493 PMID:21635612 PMID:21778721 PMID:21779290 PMID:21810471 PMID:21854832 PMID:21895724 PMID:21952006 PMID:21956039 PMID:22095730 PMID:22199116 PMID:22250012 PMID:22293141 PMID:22309168 PMID:22311567 PMID:22354620 PMID:22373669 PMID:22378279 PMID:22382802 PMID:22429796 PMID:22456477 PMID:22509038 PMID:22539601 PMID:22581653 PMID:22613981 PMID:22629021 PMID:22659597 PMID:22677073 PMID:22708720 PMID:22727609 PMID:22739119 PMID:22771213 PMID:22818067 PMID:22882672 PMID:22885918 PMID:22927196 PMID:22944906 PMID:22947121 PMID:22949429 PMID:22956155 PMID:23000022 PMID:23075154 PMID:23092362 PMID:23098067 PMID:23123674 PMID:23124029 PMID:23130128 PMID:23139254 PMID:23153844 PMID:23158531 PMID:23174487 PMID:23193492 PMID:23251633 PMID:23271449 PMID:23291057 PMID:23304551 PMID:23324056 PMID:23350853 PMID:23375927 PMID:23392653 PMID:23396983 PMID:23400408 PMID:23465283 PMID:23571586 PMID:23631430 PMID:23710137 PMID:23788249 PMID:23844633 PMID:23851063 PMID:23861362 PMID:23861489 PMID:23890619 PMID:23989646 PMID:23995044 PMID:23995305 PMID:24006450 PMID:24033266 PMID:24052033 PMID:24055113 PMID:24070608 PMID:24080067 PMID:24096004 PMID:24103226 PMID:24144883 PMID:24184248 PMID:24190995 PMID:24217263 PMID:24218437 PMID:24223155 PMID:24269949 PMID:24284363 PMID:24291113 PMID:24314077 PMID:24357532 PMID:24363352 PMID:24372464 PMID:24373870 PMID:24388587 PMID:24440382 PMID:24552659 PMID:24573873 PMID:24596401 PMID:24606995 PMID:24631775 PMID:24665220 PMID:24666684 PMID:24667783 PMID:24681627 PMID:24687331 PMID:24689698 PMID:24705789 PMID:24713462 PMID:24721657 PMID:24762593 PMID:24818999 PMID:24861447 PMID:24912595 PMID:24920132 PMID:24947509 PMID:25028166 PMID:25037568 PMID:25087618 PMID:25119684 PMID:25139741 PMID:25163546 PMID:25187895 PMID:25192979 PMID:25234465 PMID:25236808 PMID:25294783 PMID:25344363 PMID:25348405 PMID:25351510 PMID:25444851 PMID:25447171 PMID:25453094 PMID:25467552 PMID:25471708 PMID:25494010 PMID:25525159 PMID:25554238 PMID:25559286 PMID:25564553 PMID:25564853 PMID:25576780 PMID:25608792 PMID:25616976 PMID:25634836 PMID:25637381 PMID:25639344 PMID:25640679 PMID:25645639 PMID:25649125 PMID:25661095 PMID:25705178 PMID:25712016 PMID:25741868 PMID:25741886 PMID:25741888 PMID:25786344 PMID:25804018 PMID:25825456 PMID:25845942 PMID:25854863 PMID:25889101 PMID:25916402 PMID:25929701 PMID:25935074 PMID:25956966 PMID:25974115 PMID:25985138 PMID:25991456 PMID:26019114 PMID:26022593 PMID:26063740 PMID:26066609 PMID:26077850 PMID:26118460 PMID:26118593 PMID:26132555 PMID:26159999 PMID:26187847 PMID:26189708 PMID:26228265 PMID:26318259 PMID:26332594 PMID:26338694 PMID:26344792 PMID:26346102 PMID:26383259 PMID:26385840 PMID:26405101 PMID:26412604 PMID:26423924 PMID:26467025 PMID:26469389 PMID:26496715 PMID:26498160 PMID:26546361 PMID:26594346 PMID:26669661 PMID:26675252 PMID:26681611 PMID:26688388 PMID:26704558 PMID:26734131 PMID:26743238 PMID:26745405 PMID:26813553 PMID:27000522 PMID:27026747 PMID:27041096 PMID:27041150 PMID:27114410 PMID:27159321 PMID:27231019 PMID:27251404 PMID:27325960 PMID:27332903 PMID:27379800 PMID:27451284 PMID:27470144 PMID:27479201 PMID:27485560 PMID:27613431 PMID:27650965 PMID:27690226 PMID:27707468 PMID:27761162 PMID:27807201 PMID:27810088 PMID:27816319 PMID:27831900 PMID:27868350 PMID:27871843 PMID:27884173 PMID:27917693 PMID:27920829 PMID:27921062 PMID:28012188 PMID:28096388 PMID:28182242 PMID:28212739 PMID:28217227 PMID:28249770 PMID:28264985 PMID:28341588 PMID:28364778 PMID:28383569 PMID:28438721 PMID:28449774 PMID:28472724 PMID:28479515 PMID:28491751 PMID:28491806 PMID:28492532 PMID:28518168 PMID:28532774 PMID:28549997 PMID:28566242 PMID:28575668 PMID:28588847 PMID:28589536 PMID:28595573 PMID:28600177 PMID:28600387 PMID:28606196 PMID:28619993 PMID:28704380 PMID:28720088 PMID:28739325 PMID:28749187 PMID:28749435 PMID:28794082 PMID:28798025 PMID:28944242 PMID:28988457 PMID:29021305 PMID:29033053 PMID:29037160 PMID:29095814 PMID:29167462 PMID:29194874 PMID:29197658 PMID:29241489 PMID:29247119 PMID:29255176 PMID:29330128 PMID:29372044 PMID:29379719 PMID:29396561 PMID:29401425 PMID:29420653 PMID:29439887 PMID:29447731 PMID:29449639 PMID:29451064 PMID:29497013 PMID:29532034 PMID:29544605 PMID:29582136 PMID:29598884 PMID:29622001 PMID:29654130 PMID:29661707 PMID:29672598 PMID:29677589 PMID:29684900 PMID:29740400 PMID:29766885 PMID:29790872 PMID:29851656 PMID:29857160 PMID:29876285 PMID:29884292 PMID:29922582 PMID:29925740 PMID:29952348 PMID:30008122 PMID:30036649 PMID:30079003 PMID:30099333 PMID:30122538 PMID:30170673 PMID:30219255 PMID:30244407 PMID:30291343 PMID:30302399 PMID:30311386 PMID:30327538 PMID:30369311 PMID:30406014 PMID:30530868 PMID:30571187 PMID:30591322 PMID:30609406 PMID:30615648 PMID:30686478 PMID:30758498 PMID:30816480 PMID:30847666 PMID:30919684 PMID:30935642 PMID:30967788 PMID:30974404 PMID:31009818 PMID:31019283 PMID:31043699 PMID:31078652 PMID:31114860 PMID:31226583 PMID:31229680 PMID:31246743 PMID:31315195 PMID:31337358 PMID:31395126 PMID:31415974 PMID:31424047 PMID:31427586 PMID:31447099 PMID:31484877 PMID:31518351 PMID:31520628 PMID:31521807 PMID:31535183 PMID:31565860 PMID:31589614 PMID:31638414 PMID:31696929 PMID:31729605 PMID:31737537 PMID:31765965 PMID:31865382 PMID:31883792 PMID:31899541 PMID:31980526 PMID:31994352 PMID:32004091 PMID:32009526 PMID:32011662 PMID:32015334 PMID:32048431 PMID:32096762 PMID:32168391 PMID:32233023 PMID:32238909 PMID:32268277 PMID:32298319 PMID:32383558 PMID:32421437 PMID:32431610 PMID:32470535 PMID:32508908 PMID:32528524 PMID:32553227 PMID:32600061 PMID:32686758 PMID:32695137 PMID:32797034 PMID:32830254 PMID:32893267 PMID:32901917 PMID:32917565 PMID:32936022 PMID:33029862 PMID:33087929 PMID:33095155 PMID:33141630 PMID:33181513 PMID:33256261 PMID:33309763 PMID:33466149 PMID:33484326 PMID:33498651 PMID:33504163 PMID:33574382 PMID:33600800 PMID:33614747 PMID:33664273 PMID:33693037 PMID:33777698 PMID:33876311 PMID:33900377 PMID:34076677 PMID:34135346 PMID:34165182 PMID:34319147 PMID:34333030 PMID:34389451 PMID:34395343 PMID:34398675 PMID:34404389 PMID:34411974 PMID:34426522 PMID:34428338 PMID:34495297 PMID:34505893 PMID:34691145 PMID:34697415 PMID:34798354 PMID:34860437 PMID:34884666 PMID:34930020 PMID:35091851 PMID:35323627 PMID:35352813 PMID:35442947 PMID:35470684 PMID:35492848 PMID:35535697 PMID:35703482 PMID:35911527 PMID:36007526 PMID:36077086 PMID:36102233 PMID:36136372 PMID:36197721 PMID:36204818 PMID:36293497 PMID:36310718 PMID:36505078 PMID:36578016 PMID:36674868 PMID:36693943 PMID:36721196 PMID:36806574 PMID:36898499 PMID:36973604 PMID:37086329 PMID:37445499 PMID:37449562 PMID:37457655 PMID:37560270 PMID:37589201 PMID:37748809 PMID:37821546 PMID:37937776 PMID:38256028 PMID:38489124 PMID:38657442 PMID:39481677 More...
|
MIM:192500 MIM:220400 |
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
|
|
G
|
KCNQ1-AS1
|
KCNQ1 antisense RNA 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:9323054 PMID:9536098 PMID:9799083 PMID:10024302 PMID:10807545 PMID:10973849 PMID:11226272 PMID:11761407 PMID:12808265 PMID:14661677 PMID:15028050 PMID:15234419 PMID:15500450 PMID:15840476 PMID:15913580 PMID:16038262 PMID:16414944 PMID:16487223 PMID:16922724 PMID:16981927 PMID:17016049 PMID:17470695 PMID:17576681 PMID:17905336 PMID:18426444 PMID:19322600 PMID:19632626 PMID:19716085 PMID:19825999 PMID:19841300 PMID:19862833 PMID:19996378 PMID:20301308 PMID:20981092 PMID:21451124 PMID:22354620 PMID:22378279 PMID:22581653 PMID:22727609 PMID:22739119 PMID:22944906 PMID:22949429 PMID:23098067 PMID:23158531 PMID:23465283 PMID:23631430 PMID:23710137 PMID:23861362 PMID:23890619 PMID:24033266 PMID:24055113 PMID:24144883 PMID:24284363 PMID:24388587 PMID:24762593 PMID:25187895 PMID:25351510 PMID:25447171 PMID:25554238 PMID:25637381 PMID:25741868 PMID:25786344 PMID:26159999 PMID:26318259 PMID:26338694 PMID:26385840 PMID:26467025 PMID:26669661 PMID:26704558 PMID:27379800 PMID:27871843 PMID:27917693 PMID:28438721 PMID:28492532 PMID:28704380 PMID:28798025 PMID:29247119 PMID:29255176 PMID:29420653 PMID:29532034 PMID:30530868 PMID:30847666 PMID:30919684 PMID:31019283 PMID:31043699 PMID:31337358 PMID:31447099 PMID:31589614 PMID:31696929 PMID:31737537 PMID:32268277 PMID:32383558 PMID:32470535 PMID:32528524 PMID:32600061 PMID:32893267 PMID:32917565 PMID:33309763 PMID:33498651 PMID:33614747 PMID:34495297 PMID:34505893 PMID:34691145 PMID:34930020 PMID:36310718 PMID:36693943 PMID:37589201 More...
|
|
NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,871,662
|
|
G
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:234493 PMID:280145 PMID:738035 PMID:752693 PMID:9323054 PMID:9536098 PMID:12402336 PMID:12442276 PMID:12835205 PMID:16199547 PMID:17576681 PMID:17905336 PMID:18752142 PMID:19632626 PMID:19716085 PMID:19841300 PMID:19862833 PMID:20301308 PMID:20851114 PMID:20920651 PMID:22581653 PMID:23631430 PMID:24033266 PMID:25163546 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25889101 PMID:26159999 PMID:26318259 PMID:26405101 PMID:28438721 PMID:28492532 PMID:30099333 PMID:31696929 PMID:32893267 PMID:33029862 PMID:34135346 PMID:38489124 More...
|
|
NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
|
|
G
|
KIF11
|
kinesin family member 11
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
|
|
G
|
KIF21B
|
kinesin family member 21B
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 1:200,969,390...201,023,714
Ensembl chr 1:200,969,390...201,023,714
|
|
G
|
KMT2C
|
lysine methyltransferase 2C
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
|
|
G
|
KRIT1
|
KRIT1 ankyrin repeat containing
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
|
|
G
|
LAMA4
|
laminin subunit alpha 4
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939
|
|
G
|
LDB3
|
LIM domain binding 3
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072
|
|
G
|
LHFPL4
|
LHFPL tetraspan subfamily member 4
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,498,361...9,553,822
Ensembl chr 3:9,498,361...9,553,822
|
|
G
|
LMNA
|
lamin A/C
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar HPO |
PMID:10580070 PMID:11102973 PMID:12920062 PMID:17334235 PMID:18414213 PMID:18795223 PMID:18926329 PMID:19318026 PMID:21179469 PMID:23701190 PMID:24386194 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28686329 PMID:29237675 PMID:29432544 PMID:29952368 PMID:31402444 PMID:31514951 PMID:32021920 PMID:32083564 PMID:32818388 PMID:32880476 PMID:33407844 PMID:34768595 PMID:35887646 PMID:37303127 More...
|
MIM:151660 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
|
|
G
|
LOC105372791
|
uncharacterized LOC105372791
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10219239 PMID:10220144 PMID:10984545 PMID:11468227 PMID:12402336 PMID:14661677 PMID:14760488 PMID:15368194 PMID:15599693 PMID:15840476 PMID:15913580 PMID:16487223 PMID:16922724 PMID:17161064 PMID:17210839 PMID:17275752 PMID:17310097 PMID:18006462 PMID:19219384 PMID:19716085 PMID:20042375 PMID:20817017 PMID:22166675 PMID:22378279 PMID:22581653 PMID:22677073 PMID:23465283 PMID:23631430 PMID:23631727 PMID:23861362 PMID:23936059 PMID:24055113 PMID:24403551 PMID:24569893 PMID:24631775 PMID:24681347 PMID:24796621 PMID:25333069 PMID:25351510 PMID:25637381 PMID:25741868 PMID:25741880 PMID:26123744 PMID:26159999 PMID:26220970 PMID:26633542 PMID:26859003 PMID:27435932 PMID:27465075 PMID:27650965 PMID:27920829 PMID:28492532 PMID:28600387 PMID:28794082 PMID:29661707 PMID:29805884 PMID:30847666 PMID:30986657 PMID:31235733 PMID:31447099 PMID:31521807 PMID:31535183 PMID:31737537 PMID:32268277 PMID:33626434 PMID:39481677 More...
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|
NCBI chr21:34,353,006...34,375,362
|
|
G
|
LOC109113863
|
FGF2 promoter region
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 4:122,825,690...122,827,153
|
|
G
|
LOC110121269
|
VISTA enhancer hs2177
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:16453024 PMID:19716085 PMID:20110800 PMID:22581653 PMID:24033266 PMID:24055113 PMID:24631775 PMID:25637381 PMID:25741868 PMID:25904541 PMID:26332594 PMID:26467025 PMID:28492532 PMID:32009526 PMID:32449611 More...
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|
NCBI chr 3:38,578,362...38,581,496
|
|
G
|
LOC110121275
|
VISTA enhancer hs2192
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:150,962,513...150,966,344
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G
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LOC113748416
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Sharpr-MPRA regulatory region 5961
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 7:92,245,795...92,246,409
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G
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LOC121175350
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Sharpr-MPRA regulatory region 2641
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:16199547 PMID:21885989 PMID:25016126 PMID:25363768 PMID:25741868 PMID:26350513 PMID:28492532 PMID:28714951 PMID:29641532 PMID:34011629 More...
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NCBI chr 7:92,042,035...92,042,329
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G
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LOC124625881
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Sharpr-MPRA regulatory region 515
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr12:2,198,243...2,198,537
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G
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LOC126805877
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MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:12920062 PMID:17334235 PMID:18414213 PMID:18795223 PMID:18926329 PMID:19318026 PMID:21179469 PMID:23701190 PMID:24386194 PMID:25741868 PMID:27532257 PMID:28492532 PMID:29432544 PMID:31402444 PMID:31514951 PMID:32021920 PMID:32083564 PMID:32880476 PMID:34768595 PMID:35887646 More...
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NCBI chr 1:156,129,902...156,131,101
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G
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LOC126806067
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BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 1:237,589,958...237,591,157
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G
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LOC126806068
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BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 1:237,784,111...237,785,310
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G
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LOC126806426
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BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:37091313 |
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NCBI chr 2:178,614,121...178,615,320
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G
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LOC126806430
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BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:25741868 PMID:26516846 PMID:27930701 PMID:28135719 PMID:28492532 PMID:31785789 More...
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NCBI chr 2:178,729,067...178,730,266
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G
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LOC126807136
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MED14-independent group 3 enhancer GRCh37_chr4:114274931-114276130
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:12571597 PMID:15178757 PMID:16253912 PMID:17242276 PMID:22581653 PMID:23396983 PMID:23861362 PMID:25351510 PMID:25741868 PMID:26132555 PMID:26230511 PMID:27110552 PMID:27135274 PMID:27875062 PMID:28074886 PMID:28341588 PMID:28492532 PMID:28600387 PMID:28831199 PMID:29892012 PMID:30564305 PMID:30821013 PMID:30847666 PMID:31862442 More...
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NCBI chr 4:113,353,775...113,354,974
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G
|
LOC126807137
|
CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759
|
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:17161064 PMID:23396983 PMID:23861362 PMID:24981977 PMID:25351510 PMID:25447171 PMID:25741868 PMID:26164358 PMID:26220970 PMID:26230511 PMID:28255936 PMID:28492532 PMID:28988457 PMID:30471092 PMID:30847666 PMID:31130284 PMID:31737537 PMID:32746448 PMID:33762593 PMID:33919104 PMID:36413997 PMID:36693943 PMID:37089884 More...
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|
NCBI chr 4:113,355,404...113,356,603
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|
G
|
LOC126860104
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MED14-independent group 3 enhancer GRCh37_chr7:91888982-91890181
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,259,668...92,260,867
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G
|
LOC126861356
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BRD4-independent group 4 enhancer GRCh37_chr11:118014519-118015718
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
|
|
NCBI chr11:118,143,804...118,145,003
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|
G
|
LOC126861417
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MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309
|
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IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:2,519,944...2,521,143
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|
G
|
LOC126861418
|
BRD4-independent group 4 enhancer GRCh37_chr12:2660049-2661248
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:2,550,883...2,552,082
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|
G
|
LOC126862021
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CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:25741871 PMID:39481677 |
|
NCBI chr14:90,404,441...90,405,640
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|
G
|
LOC129389824
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MPRA-validated peak6634 silencer
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,137,442...92,137,642
|
|
G
|
LOC129389825
|
MPRA-validated peak6635 silencer
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,137,622...92,137,822
|
|
G
|
LOC129389826
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MPRA-validated peak6636 silencer
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|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,137,842...92,138,042
|
|
G
|
LOC129998788
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ATAC-STARR-seq lymphoblastoid active region 26256
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:91,941,003...91,941,152
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|
G
|
LOC129998789
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ATAC-STARR-seq lymphoblastoid silent region 18366
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:91,995,503...91,995,682
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|
G
|
LOC129998790
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ATAC-STARR-seq lymphoblastoid silent region 18367
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,158,876...92,158,925
|
|
G
|
LOC129998791
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ATAC-STARR-seq lymphoblastoid silent region 18368
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,179,003...92,179,112
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|
G
|
LOC129998792
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ATAC-STARR-seq lymphoblastoid silent region 18370
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,424,727...92,424,846
|
|
G
|
LOC129998793
|
ATAC-STARR-seq lymphoblastoid silent region 18371
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,447,402...92,448,171
|
|
G
|
LOC129998794
|
ATAC-STARR-seq lymphoblastoid active region 26260
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,448,602...92,448,651
|
|
G
|
LOC129999610
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ATAC-STARR-seq lymphoblastoid silent region 18785
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:150,974,456...150,974,525
|
|
G
|
LOC129999611
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ATAC-STARR-seq lymphoblastoid silent region 18786
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:150,974,626...150,974,675
|
|
G
|
LOC129999612
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ATAC-STARR-seq lymphoblastoid silent region 18787
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:19862833 PMID:28492532 |
|
NCBI chr 7:150,975,066...150,975,215
|
|
G
|
LOC130004408
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ATAC-STARR-seq lymphoblastoid active region 3801
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr10:95,693,632...95,693,911
|
|
G
|
LOC130007179
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ATAC-STARR-seq lymphoblastoid silent region 4128
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:2,152,251...2,152,470
|
|
G
|
LOC130007180
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ATAC-STARR-seq lymphoblastoid active region 5814
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:2,387,267...2,387,376
|
|
G
|
LOC130057222
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ATAC-STARR-seq lymphoblastoid silent region 6507
|
|
IAGP
|
ClinVar Annotator: match by term: Prolonged QT interval
|
ClinVar |
PMID:24033266 PMID:25741868 |
|
NCBI chr15:63,048,194...63,048,853
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|
G
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LOC130065678
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ATAC-STARR-seq lymphoblastoid active region 17731
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr20:33,438,830...33,438,879
|
|
G
|
LOC130065679
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ATAC-STARR-seq lymphoblastoid silent region 12811
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:33,443,309...33,443,368
|
|
G
|
LOC130065680
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ATAC-STARR-seq lymphoblastoid silent region 12812
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:31737537 PMID:34546463 More...
|
|
NCBI chr20:33,443,479...33,443,958
|
|
G
|
LRBA
|
LPS responsive beige-like anchor protein
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
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|
G
|
LRRC8E
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leucine rich repeat containing 8 VRAC subunit E
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr19:7,888,510...7,902,016
Ensembl chr19:7,888,505...7,902,021
|
|
G
|
LRRD1
|
leucine rich repeats and death domain containing 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,141,643...92,179,142
Ensembl chr 7:92,141,643...92,179,531
|
|
G
|
MAP1LC3A
|
microtubule associated protein 1 light chain 3 alpha
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345
|
|
G
|
MDN1
|
midasin AAA ATPase 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 6:89,642,498...89,819,794
Ensembl chr 6:89,642,498...89,819,794
|
|
G
|
MIR1285-1
|
microRNA 1285-1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:92,204,015...92,204,098
Ensembl chr 7:92,204,015...92,204,098
|
|
G
|
MIR499A
|
microRNA 499a
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,990,376...34,990,497
Ensembl chr20:34,990,376...34,990,497
|
|
G
|
MIR671
|
microRNA 671
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
|
|
NCBI chr 7:151,238,421...151,238,538
Ensembl chr 7:151,238,421...151,238,538
|
|
G
|
MKI67
|
marker of proliferation Ki-67
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
|
|
G
|
MTMR14
|
myotubularin related protein 14
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393
|
|
G
|
MYBPC3
|
myosin binding protein C3
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome ClinVar Annotator: match by term: Prolonged QT interval
|
ClinVar |
PMID:208206 PMID:16335287 PMID:16715312 PMID:18533079 PMID:18957093 PMID:19574547 PMID:19632136 PMID:19996403 PMID:20215591 PMID:20458009 PMID:20624503 PMID:20800588 PMID:21310275 PMID:21750094 PMID:22361390 PMID:22429680 PMID:22464770 PMID:22763267 PMID:22857948 PMID:22958901 PMID:23140321 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24111713 PMID:24119082 PMID:24503780 PMID:24510615 PMID:24721642 PMID:25163546 PMID:25342278 PMID:25524337 PMID:25741868 PMID:26467025 PMID:26914223 PMID:27153395 PMID:27532257 PMID:28138913 PMID:28254189 PMID:28492532 PMID:28679633 PMID:28771489 PMID:29255176 PMID:29853478 PMID:30297972 PMID:30847666 PMID:31110529 PMID:31323898 PMID:32746448 PMID:32841044 PMID:33495596 PMID:33495597 PMID:33673806 PMID:33782553 PMID:37652022 More...
|
|
NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
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|
G
|
MYBPHL
|
myosin binding protein H like
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011
|
|
G
|
MYH6
|
myosin heavy chain 6
|
|
IAGP
|
ClinVar Annotator: match by term: Prolonged QT interval ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:23861362 PMID:24033266 PMID:25351510 PMID:25741868 PMID:26383259 PMID:27789736 PMID:28492532 PMID:28600387 PMID:29332214 PMID:30775854 PMID:30847666 PMID:30868567 PMID:31376648 PMID:33325730 PMID:35621855 More...
|
|
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
|
|
G
|
MYH7
|
myosin heavy chain 7
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:23283745 PMID:25741868 PMID:27532257 PMID:28492532 PMID:29255176 PMID:31104103 PMID:33495596 PMID:37652022 PMID:37907184 More...
|
|
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
|
|
G
|
MYH7B
|
myosin heavy chain 7B
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437
|
|
G
|
MYL3
|
myosin light chain 3
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:11174330 PMID:20641121 PMID:21239446 PMID:22131351 PMID:23426552 PMID:23748425 PMID:24111713 PMID:25741868 PMID:26779504 PMID:27483260 PMID:27574918 PMID:28492532 PMID:28518168 PMID:28971120 PMID:29343803 PMID:29710196 PMID:29914921 PMID:31006259 PMID:31019283 PMID:33288880 PMID:34137518 PMID:36964972 PMID:37431535 PMID:37652022 More...
|
|
NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178
|
|
G
|
MYLK2
|
myosin light chain kinase 2
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689
|
|
G
|
MYLK4
|
myosin light chain kinase family member 4
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr 6:2,663,637...2,770,376
Ensembl chr 6:2,663,629...2,770,330
|
|
G
|
MYPN
|
myopalladin
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
|
|
G
|
NCOA6
|
nuclear receptor coactivator 6
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:34,714,774...34,825,651
Ensembl chr20:34,689,097...34,825,651
|
|
G
|
NEBL
|
nebulette
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 PMID:28492532 PMID:28750076 PMID:33762593 More...
|
|
NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011
|
|
G
|
NECAB3
|
N-terminal EF-hand calcium binding protein 3
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr20:33,657,087...33,675,348
Ensembl chr20:33,657,087...33,674,463
|
|
G
|
NET1
|
neuroepithelial cell transforming 1
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:26132555 |
|
NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056
|
|
G
|
NEXN
|
nexilin F-actin binding protein
|
|
IAGP
|
ClinVar Annotator: match by term: Long QT syndrome
|
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:33500567 |
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NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895
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G
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NKX2-5
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NK2 homeobox 5
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 PMID:30611920 More...
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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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NLRP13
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NLR family pyrin domain containing 13
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr19:55,891,692...55,932,336
Ensembl chr19:55,891,699...55,932,336
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G
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NLRX1
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NLR family member X1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016
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G
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NOS1AP
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nitric oxide synthase 1 adaptor protein
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
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G
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NOS3
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nitric oxide synthase 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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G
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NR5A2
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nuclear receptor subfamily 5 group A member 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 1:200,027,710...200,177,415
Ensembl chr 1:200,027,614...200,177,420
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G
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NRIP1
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nuclear receptor interacting protein 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
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G
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NUB1
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negative regulator of ubiquitin like proteins 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,341,812...151,378,449
Ensembl chr 7:151,341,772...151,378,449
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G
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OGG1
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8-oxoguanine DNA glycosylase
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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G
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OXTR
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oxytocin receptor
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:1146501 PMID:2705900 PMID:9536092 PMID:9536098 PMID:09537420 PMID:10227634 PMID:10464299 PMID:11001938 PMID:11251997 PMID:11431690 PMID:11532985 PMID:11884389 PMID:12666119 PMID:14647208 PMID:14672715 PMID:15099591 PMID:15580566 PMID:15668980 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:17405141 PMID:17537631 PMID:17556197 PMID:17576681 PMID:17994539 PMID:18253147 PMID:18509671 PMID:18583131 PMID:19238754 PMID:19380584 PMID:19697367 PMID:19773168 PMID:20229577 PMID:20472890 PMID:21182936 PMID:21660982 PMID:22245016 PMID:22378279 PMID:22581547 PMID:22584458 PMID:22595201 PMID:22976939 PMID:23465283 PMID:23631430 PMID:23640888 PMID:23861362 PMID:24021552 PMID:24033266 PMID:24070816 PMID:24123366 PMID:24503780 PMID:24917393 PMID:25214167 PMID:25351510 PMID:25630502 PMID:25741868 PMID:25757662 PMID:26159999 PMID:26404900 PMID:26467025 PMID:26498160 PMID:26947586 PMID:27184587 PMID:27312022 PMID:27483260 PMID:27600940 PMID:27772553 PMID:27854218 PMID:27930701 PMID:28232187 PMID:28407228 PMID:28492532 PMID:28807458 PMID:28810874 PMID:28837624 PMID:28877744 PMID:28898996 PMID:29396561 PMID:29501670 PMID:29961767 PMID:29970176 PMID:30055862 PMID:30153853 PMID:30174172 PMID:30564623 PMID:30704477 PMID:30847666 PMID:31043699 PMID:31638414 PMID:31737537 PMID:32004987 PMID:32419263 PMID:32528171 PMID:33874732 PMID:35026164 PMID:35027292 PMID:196973670 More...
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NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628
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G
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PHOX2B
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paired like homeobox 2B
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IAGP
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HPO |
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ORPHA:2151 |
NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
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G
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PI4KA
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phosphatidylinositol 4-kinase alpha
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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G
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PIGU
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phosphatidylinositol glycan anchor biosynthesis class U
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790
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G
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PIK3CG
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phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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G
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PKD1L2
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polycystin 1 like 2 (gene/pseudogene)
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr16:81,100,875...81,220,394
Ensembl chr16:81,100,875...81,220,370
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G
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PKP2
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plakophilin 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:16567567 PMID:17521752 PMID:18662195 PMID:19533476 PMID:19569224 PMID:19955750 PMID:20129281 PMID:20152563 PMID:20400443 PMID:20829228 PMID:20857253 PMID:21397041 PMID:21606390 PMID:21636032 PMID:21859740 PMID:23137101 PMID:23299917 PMID:23651034 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24070718 PMID:24200904 PMID:24352520 PMID:24618965 PMID:24704780 PMID:24832006 PMID:25351510 PMID:25608792 PMID:25637381 PMID:25676813 PMID:25741868 PMID:26138720 PMID:26332594 PMID:26656175 PMID:26718681 PMID:26743238 PMID:27650965 PMID:27930701 PMID:28166282 PMID:28341588 PMID:28492532 PMID:29288195 PMID:29456632 PMID:29582136 PMID:30615648 PMID:30764827 PMID:30765282 PMID:30847666 PMID:31118017 PMID:31737537 PMID:32880476 PMID:36178741 More...
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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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PLCB4
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phospholipase C beta 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
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G
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POLRMT
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RNA polymerase mitochondrial
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
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G
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PRKAG2
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protein kinase AMP-activated non-catalytic subunit gamma 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
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G
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PROCR
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protein C receptor
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:35,171,096...35,216,259
Ensembl chr20:35,172,072...35,216,240
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G
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PROKR1
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prokineticin receptor 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 2:68,643,579...68,658,251
Ensembl chr 2:68,643,579...68,658,251
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G
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PRSS12
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serine protease 12
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 4:118,280,038...118,353,003
Ensembl chr 4:118,280,038...118,353,003
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G
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PRSS57
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serine protease 57
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr19:685,546...695,452
Ensembl chr19:685,546...695,498
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G
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PSMD12
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proteasome 26S subunit, non-ATPase 12
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IAGP
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HPO |
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ORPHA:529962 |
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
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G
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PTOV1
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PTOV1 extended AT-hook containing adaptor protein
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr19:49,850,705...49,860,742
Ensembl chr19:49,850,735...49,860,744
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G
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PTOV1-AS2
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PTOV1 antisense RNA 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr19:49,856,465...49,859,289
Ensembl chr19:49,856,970...49,859,289
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G
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PXMP4
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peroxisomal membrane protein 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:33,702,758...33,720,310
Ensembl chr20:33,702,758...33,720,319
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G
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RAD18
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RAD18 E3 ubiquitin protein ligase
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:8,877,075...8,963,472
Ensembl chr 3:8,775,402...8,963,773
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G
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RALGAPA1
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Ral GTPase activating protein catalytic subunit alpha 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
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G
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RALY
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RALY heterogeneous nuclear ribonucleoprotein
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:33,993,911...34,084,884
Ensembl chr20:33,993,646...34,108,308
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G
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RBM20
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RNA binding motif protein 20
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:22004663 PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26498160 PMID:26656175 PMID:27296017 PMID:28492532 PMID:30775854 More...
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NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,471
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G
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REM1
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RRAD and GEM like GTPase 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr20:31,475,288...31,484,895
Ensembl chr20:31,475,288...31,484,895
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G
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REPIN1
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replication initiator 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 |
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NCBI chr 7:150,368,096...150,374,039
Ensembl chr 7:150,368,189...150,374,044
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G
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RHEB
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Ras homolog, mTORC1 binding
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,466,012...151,519,895
Ensembl chr 7:151,466,012...151,520,120
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G
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RIMS1
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regulating synaptic membrane exocytosis 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 6:71,886,550...72,403,145
Ensembl chr 6:71,886,550...72,403,150
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G
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RNF207
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ring finger protein 207
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 1:6,206,119...6,221,299
Ensembl chr 1:6,205,475...6,221,299
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G
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RPUSD3
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RNA pseudouridine synthase D3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602
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G
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RTEL1-TNFRSF6B
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RTEL1-TNFRSF6B readthrough (NMD candidate)
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 PMID:28492532 |
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NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
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G
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RYR1
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ryanodine receptor 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar HPO |
PMID:23460944 PMID:25741868 PMID:26994242 PMID:28003660 PMID:28492532 PMID:35285867 PMID:35697689 More...
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ORPHA:466650 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G
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RYR2
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ryanodine receptor 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:11159936 PMID:15364606 PMID:15364613 PMID:16239587 PMID:16272262 PMID:19398665 PMID:19926015 PMID:21616285 PMID:22221940 PMID:22373669 PMID:22374134 PMID:22787013 PMID:22828895 PMID:23595086 PMID:23871484 PMID:24025405 PMID:24033266 PMID:25351510 PMID:25440180 PMID:25554238 PMID:25741868 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26256814 PMID:26704558 PMID:26743238 PMID:27452199 PMID:27930701 PMID:28237968 PMID:28404607 PMID:28422759 PMID:28449774 PMID:28492532 PMID:29032884 PMID:29037160 PMID:29434162 PMID:29543670 PMID:30975432 PMID:31112425 PMID:32152366 PMID:35819174 PMID:36082968 PMID:36138163 More...
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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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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:15671291 PMID:19522081 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 PMID:22840528 PMID:23414114 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24529773 PMID:25253298 PMID:25668026 PMID:25741868 PMID:26042039 PMID:26467025 PMID:26498160 PMID:27435932 PMID:27896052 PMID:28341588 PMID:28492532 PMID:28837624 PMID:29758173 More...
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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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SCN3B
|
sodium voltage-gated channel beta subunit 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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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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SCN4A
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sodium voltage-gated channel alpha subunit 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
|
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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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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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar HPO |
PMID:17592081 PMID:23861362 PMID:28492532 |
MIM:611819 |
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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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar HPO |
PMID:617273 PMID:1097384 PMID:2437023 PMID:7651517 PMID:7889574 PMID:8541846 PMID:8620612 PMID:8917568 PMID:10448858 PMID:10508990 PMID:10690282 PMID:10711933 PMID:10807545 PMID:10961955 PMID:10973849 PMID:11076825 PMID:11123251 PMID:11222472 PMID:11274952 PMID:11807557 PMID:11901046 PMID:12106943 PMID:12566525 PMID:12673799 PMID:14523039 PMID:14654377 PMID:14676229 PMID:14753626 PMID:14967853 PMID:14998624 PMID:15051636 PMID:15136511 PMID:15176425 PMID:15840476 PMID:15851227 PMID:15992732 PMID:15996170 PMID:16344400 PMID:16379539 PMID:16414944 PMID:16453024 PMID:16505387 PMID:16521247 PMID:16712702 PMID:16922724 PMID:17088455 PMID:17210839 PMID:17210841 PMID:17587741 PMID:17605181 PMID:17646591 PMID:17698727 PMID:17905336 PMID:17908752 PMID:18071069 PMID:18426444 PMID:18451998 PMID:18456723 PMID:18508782 PMID:18697752 PMID:18708744 PMID:18752142 PMID:19017345 PMID:19026623 PMID:19027780 PMID:19167345 PMID:19251209 PMID:19322600 PMID:19406494 PMID:19412328 PMID:19666841 PMID:19716085 PMID:19841300 PMID:19843921 PMID:19862833 PMID:20102864 PMID:20110800 PMID:20129283 PMID:20403459 PMID:20566482 PMID:20636320 PMID:20728579 PMID:20981092 PMID:21109022 PMID:21167004 PMID:21167176 PMID:21185501 PMID:21193062 PMID:21273195 PMID:21321465 PMID:21911102 PMID:22331908 PMID:22337857 PMID:22373669 PMID:22378279 PMID:22426227 PMID:22490985 PMID:22557970 PMID:22581653 PMID:22677073 PMID:22685113 PMID:22705208 PMID:22721569 PMID:22739120 PMID:22840528 PMID:22885917 PMID:22936642 PMID:22984773 PMID:22995991 PMID:23098067 PMID:23104914 PMID:23158531 PMID:23174487 PMID:23321620 PMID:23396983 PMID:23414114 PMID:23465283 PMID:23503384 PMID:23571586 PMID:23631430 PMID:23692053 PMID:23861362 PMID:23936059 PMID:24033266 PMID:24055113 PMID:24144883 PMID:24317018 PMID:24388587 PMID:24573164 PMID:24606995 PMID:24613995 PMID:24631775 PMID:24667783 PMID:24709866 PMID:24721456 PMID:24892747 PMID:24963427 PMID:25051102 PMID:25119684 PMID:25210526 PMID:25294783 PMID:25351510 PMID:25410959 PMID:25585270 PMID:25637381 PMID:25741868 PMID:25741912 PMID:25904541 PMID:25923670 PMID:26022185 PMID:26111534 PMID:26132555 PMID:26159999 PMID:26332594 PMID:26423924 PMID:26467025 PMID:26467377 PMID:26633542 PMID:26669661 PMID:26743238 PMID:26746457 PMID:26798387 PMID:26803770 PMID:26822237 PMID:26888838 PMID:27041150 PMID:27153395 PMID:27381756 PMID:27435932 PMID:27485560 PMID:27566755 PMID:27711072 PMID:28069705 PMID:28074886 PMID:28087566 PMID:28150151 PMID:28341588 PMID:28341781 PMID:28359509 PMID:28370132 PMID:28412158 PMID:28416588 PMID:28438721 PMID:28469501 PMID:28492532 PMID:28494446 PMID:28567303 PMID:28589536 PMID:28600387 PMID:28807990 PMID:28988457 PMID:29449963 PMID:29672598 PMID:29691127 PMID:29709244 PMID:29728395 PMID:29791480 PMID:29798782 PMID:29806494 PMID:29915097 PMID:30059973 PMID:30079003 PMID:30143662 PMID:30153324 PMID:30193851 PMID:30291343 PMID:30364184 PMID:30369311 PMID:30758498 PMID:30847666 PMID:31032819 PMID:31057083 PMID:31257342 PMID:31337358 PMID:31514951 PMID:31610692 PMID:31638414 PMID:31696929 PMID:31737537 PMID:31983221 PMID:32009526 PMID:32048431 PMID:32091595 PMID:32355288 PMID:32383558 PMID:32437023 PMID:32449611 PMID:32470535 PMID:32533187 PMID:32652122 PMID:32893267 PMID:32931730 PMID:33131149 PMID:33221895 PMID:33232181 PMID:33535892 PMID:33662488 PMID:34021086 PMID:34135346 PMID:34219138 PMID:34379075 PMID:34461752 PMID:34486814 PMID:34856468 PMID:35052356 PMID:36007526 PMID:36129056 PMID:36291626 PMID:36964972 PMID:36973604 PMID:37461109 PMID:37652022 PMID:37732247 PMID:37904629 PMID:37967257 PMID:39481677 More...
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MIM:608567 |
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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SDC1
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syndecan 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,797...20,225,433
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G
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SETD5
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SET domain containing 5
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
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G
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SHANK3
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SH3 and multiple ankyrin repeat domains 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212
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G
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SIDT1
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SID1 transmembrane family member 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 3:113,532,555...113,637,111
Ensembl chr 3:113,532,555...113,629,714
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G
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SIRT6
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sirtuin 6
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566
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G
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SLC12A3
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solute carrier family 12 member 3
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IAGP
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HPO |
PMID:28003083 |
MIM:263800 ORPHA:358 |
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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G
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SLC2A5
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solute carrier family 2 member 5
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 1:9,035,106...9,094,195
Ensembl chr 1:9,035,106...9,088,478
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G
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SLC4A2
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solute carrier family 4 member 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
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G
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SLC6A17
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solute carrier family 6 member 17
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
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G
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SLC6A8
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solute carrier family 6 member 8
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IAGP
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HPO |
PMID:34050321 |
MIM:300352 |
NCBI chr X:153,687,926...153,696,593
Ensembl chr X:153,687,926...153,696,588
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G
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SLMAP
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sarcolemma associated protein
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003
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G
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SMARCD3
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SWI/SNF related BAF chromatin remodeling complex subunit D3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,238,780...151,277,149
Ensembl chr 7:151,238,764...151,277,896
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G
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SMIM11
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small integral membrane protein 11
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:25640679 PMID:28492532 |
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NCBI chr21:34,375,507...34,389,151
Ensembl chr21:34,375,480...34,416,961
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G
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SNAPC4
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small nuclear RNA activating complex polypeptide 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176
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G
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SNAPC5
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small nuclear RNA activating complex polypeptide 5
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr15:66,489,748...66,497,762
Ensembl chr15:66,490,135...66,497,780
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G
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SND1
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staphylococcal nuclease and tudor domain containing 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 7:127,652,194...128,092,593
Ensembl chr 7:127,652,194...128,092,609
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G
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SNTA1
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syntrophin alpha 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591664 PMID:19684871 PMID:20009079 PMID:22378279 PMID:22584458 PMID:23376825 PMID:23465283 PMID:23631430 PMID:23834499 PMID:23861362 PMID:24014171 PMID:24319568 PMID:24981977 PMID:25395996 PMID:25640679 PMID:25650408 PMID:25741868 PMID:25864170 PMID:25956966 PMID:26132555 PMID:26159999 PMID:26220970 PMID:27028743 PMID:27231019 PMID:28074886 PMID:28341588 PMID:28492532 PMID:28589536 PMID:28837624 PMID:29247119 PMID:29343803 PMID:29714131 PMID:29806494 PMID:30369311 PMID:30403391 PMID:30471092 PMID:30615648 PMID:30847666 PMID:30975432 PMID:31589614 PMID:31737537 PMID:32032478 PMID:32893267 PMID:34546463 More...
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NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
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G
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SRGAP3
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SLIT-ROBO Rho GTPase activating protein 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:8,980,591...9,363,027
Ensembl chr 3:8,980,591...9,363,053
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G
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SRY
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sex determining region Y
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IAGP
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HPO |
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ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
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G
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SSUH2
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ssu-2 homolog
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 PMID:11805270 PMID:12269726 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:15318349 PMID:15564037 PMID:15580566 PMID:16723230 PMID:17897828 PMID:18583131 PMID:18930476 PMID:19380584 PMID:20472890 PMID:21404291 PMID:21610159 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28981925 PMID:30055862 PMID:30174172 PMID:30723005 PMID:31036801 More...
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NCBI chr 3:8,619,386...8,681,927
Ensembl chr 3:8,619,386...8,745,040
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G
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STK32B
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serine/threonine kinase 32B
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 4:5,019,386...5,500,989
Ensembl chr 4:5,051,480...5,500,994
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G
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STX16
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syntaxin 16
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IAGP
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HPO |
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ORPHA:94089 |
NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
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G
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SYK
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spleen associated tyrosine kinase
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
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G
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SYNE2
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spectrin repeat containing nuclear envelope protein 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
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G
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TADA3
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transcriptional adaptor 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011
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G
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TAF10
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TATA-box binding protein associated factor 10
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr11:6,606,294...6,612,216
Ensembl chr11:6,606,294...6,612,539
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G
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TANGO2
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transport and golgi organization 2 homolog
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IAGP
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HPO |
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ORPHA:480864 |
NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
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G
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TCAP
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titin-cap
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26636822 PMID:28492532 More...
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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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TCTN3
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tectonic family member 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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G
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TDRD6
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tudor domain containing 6
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 6:46,680,268...46,704,319
Ensembl chr 6:46,687,875...46,704,319
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G
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TECRL
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trans-2,3-enoyl-CoA reductase like
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar HPO |
PMID:25741868 PMID:27861123 PMID:30790670 |
MIM:614021 |
NCBI chr 4:64,276,298...64,409,460
Ensembl chr 4:64,275,257...64,409,468
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G
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TGFB3
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transforming growth factor beta 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 PMID:31568572 More...
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NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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G
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TGFBRAP1
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transforming growth factor beta receptor associated protein 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 2:105,249,404...105,329,735
Ensembl chr 2:105,264,391...105,329,735
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G
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THUMPD3
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THUMP domain containing 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:9,363,054...9,386,791
Ensembl chr 3:9,362,971...9,386,791
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G
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TLNRD1
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talin rod domain containing 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr15:81,000,923...81,005,788
Ensembl chr15:81,000,923...81,005,788
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G
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TMEM176A
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transmembrane protein 176A
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:150,800,769...150,805,118
Ensembl chr 7:150,800,403...150,805,118
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G
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TMEM176B
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transmembrane protein 176B
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:150,791,301...150,801,360
Ensembl chr 7:150,791,285...150,801,360
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G
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TMEM43
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transmembrane protein 43
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:25343256 PMID:25741868 PMID:28492532 |
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NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
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G
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TMPO
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thymopoietin
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351
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G
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TMUB1
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transmembrane and ubiquitin like domain containing 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,081,085...151,083,493
Ensembl chr 7:151,081,085...151,083,493
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G
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TNFRSF6B
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TNF receptor superfamily member 6b
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 PMID:28492532 |
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NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684
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G
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TNNI3
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troponin I3, cardiac type
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:22464770 PMID:24503780 PMID:25524337 PMID:25741868 PMID:26440512 PMID:27532257 PMID:28492532 PMID:30297972 PMID:37652022 More...
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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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IAGP
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HPO |
PMID:11684629 |
MIM:601494 |
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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TOP2A
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DNA topoisomerase II alpha
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896
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G
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TP53INP2
|
tumor protein p53 inducible nuclear protein 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:34,704,344...34,713,436
Ensembl chr20:34,704,339...34,713,439
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G
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TPM1
|
tropomyosin 1
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IAGP
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ClinVar Annotator: match by term: Prolonged QT interval
|
ClinVar |
PMID:24033266 PMID:25741868 |
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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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TPM1-AS
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TPM1 antisense RNA
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IAGP
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ClinVar Annotator: match by term: Prolonged QT interval
|
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr15:63,046,034...63,049,387
Ensembl chr15:62,971,190...63,049,387
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G
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TRDN
|
triadin
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IAGP
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HPO |
PMID:22422768 |
MIM:615441 |
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
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G
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TRHDE
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thyrotropin releasing hormone degrading enzyme
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr12:72,087,266...72,670,758
Ensembl chr12:72,087,266...72,670,758
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G
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TRMU
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tRNA mitochondrial 2-thiouridylase
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
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G
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TRPC4AP
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transient receptor potential cation channel subfamily C member 4 associated protein
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr20:35,002,404...35,092,807
Ensembl chr20:35,002,404...35,092,807
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G
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TRPM4
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transient receptor potential cation channel subfamily M member 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar HPO |
PMID:19726882 PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:26046366 PMID:26272755 PMID:26350513 PMID:26820365 PMID:27711072 PMID:28492532 PMID:30847666 More...
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MIM:604559 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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G
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TRPM5
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transient receptor potential cation channel subfamily M member 5
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr11:2,403,991...2,444,514
Ensembl chr11:2,404,515...2,444,514
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G
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TSPAN32
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tetraspanin 32
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr11:2,302,013...2,318,204
Ensembl chr11:2,301,997...2,318,204
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G
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TSSC4
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tumor suppressing subtransferable candidate 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr11:2,400,750...2,403,876
Ensembl chr11:2,400,488...2,403,878
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G
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TTLL3
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tubulin tyrosine ligase like 3
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138
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G
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TTN
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titin
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:17344846 PMID:23861362 PMID:24033266 PMID:25145518 PMID:25741868 PMID:26467025 PMID:26516846 PMID:26567375 PMID:27930701 PMID:28135719 PMID:28492532 PMID:29253866 PMID:31785789 PMID:37091313 More...
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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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TTN-AS1
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TTN antisense RNA 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963
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G
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TTN-AS1
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TTN antisense RNA 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:17344846 PMID:23861362 PMID:24033266 PMID:25145518 PMID:25741868 PMID:26467025 PMID:26567375 PMID:27930701 PMID:28492532 PMID:29253866 PMID:37091313 More...
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NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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G
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UBR4
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ubiquitin protein ligase E3 component n-recognin 4
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 1:19,074,510...19,210,266
Ensembl chr 1:19,074,510...19,210,266
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G
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UBR5
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ubiquitin protein ligase E3 component n-recognin 5
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759
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G
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UBR7
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ubiquitin protein ligase E3 component n-recognin 7
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215
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G
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UPP1
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uridine phosphorylase 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 7:48,088,704...48,108,736
Ensembl chr 7:48,088,628...48,108,736
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G
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USP19
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ubiquitin specific peptidase 19
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 3:49,108,050...49,120,823
Ensembl chr 3:49,108,046...49,120,938
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G
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VCL
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vinculin
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
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G
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VSX1
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visual system homeobox 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141
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G
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WDR25
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WD repeat domain 25
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr14:100,376,485...100,530,303
Ensembl chr14:100,376,418...100,530,303
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G
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WDR26
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WD repeat domain 26
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
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G
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WDR86
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WD repeat domain 86
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 PMID:21185499 PMID:25606385 PMID:28492532 More...
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NCBI chr 7:151,368,955...151,410,712
Ensembl chr 7:151,375,909...151,410,727
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G
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WWC2
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WW and C2 domain containing 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 4:183,099,257...183,320,777
Ensembl chr 4:183,099,257...183,320,777
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G
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XRCC2
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X-ray repair cross complementing 2
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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G
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YME1L1
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YME1 like 1 ATPase
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,088...27,155,266
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G
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ZNF174
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zinc finger protein 174
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr16:3,401,215...3,409,364
Ensembl chr16:3,401,215...3,409,364
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G
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ZNF341
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zinc finger protein 341
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 PMID:28492532 |
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NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
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G
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ZNF341-AS1
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ZNF341 antisense RNA 1
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 PMID:28492532 |
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NCBI chr20:33,787,373...33,811,099
Ensembl chr20:33,787,373...33,812,321
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G
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ZNF775
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zinc finger protein 775
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 |
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NCBI chr 7:150,379,330...150,398,630
Ensembl chr 7:150,368,790...150,398,630
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G
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ZNF862
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zinc finger protein 862
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IAGP
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ClinVar Annotator: match by term: Long QT syndrome
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ClinVar |
PMID:26132555 |
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NCBI chr 7:149,838,375...149,867,479
Ensembl chr 7:149,838,375...149,867,479
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G
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ADAMTS10
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ADAM metallopeptidase with thrombospondin type 1 motif 10
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IAGP
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HPO |
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ORPHA:3449 |
NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
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G
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ADAMTS17
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ADAM metallopeptidase with thrombospondin type 1 motif 17
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IAGP
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HPO |
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ORPHA:3449 |
NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005
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G
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AKAP9
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A-kinase anchoring protein 9
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IAGP
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HPO |
PMID:18093912 |
MIM:611820 ORPHA:101016 |
NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
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G
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ALG10B
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ALG10 alpha-1,2-glucosyltransferase B
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IAGP
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HPO |
PMID:34901807 |
MIM:613688 |
NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721
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G
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ANK2
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ankyrin 2
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IAGP
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HPO |
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ORPHA:101016 |
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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CACNA1C
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calcium voltage-gated channel subunit alpha1 C
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IAGP
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HPO |
PMID:23677916 PMID:24728418 |
MIM:618447 ORPHA:101016 |
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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CALM1
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calmodulin 1
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IAGP
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HPO |
PMID:23388215 PMID:27374306 |
MIM:616247 ORPHA:101016 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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G
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CALM2
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calmodulin 2
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IAGP
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HPO |
PMID:23388215 PMID:24917665 |
MIM:616249 ORPHA:101016 |
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
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G
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CALM3
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calmodulin 3
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IAGP
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HPO |
PMID:25460178 |
MIM:618782 ORPHA:101016 |
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
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G
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CAV3
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caveolin 3
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
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G
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FBN1
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fibrillin 1
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IAGP
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HPO |
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ORPHA:3449 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G
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FLNC
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filamin C
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IAGP
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HPO |
PMID:25351925 |
MIM:617047 |
NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274
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G
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HCN4
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hyperpolarization activated cyclic nucleotide gated potassium channel 4
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IAGP
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HPO |
PMID:15123648 PMID:17646576 |
MIM:163800 |
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
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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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IAGP
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HPO |
PMID:23264583 |
MIM:612240 |
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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KCNE1
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potassium voltage-gated channel subfamily E regulatory subunit 1
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IAGP
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HPO |
PMID:9354802 PMID:20823649 |
MIM:613695 ORPHA:101016 ORPHA:90647 |
NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
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G
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KCNE2
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potassium voltage-gated channel subfamily E regulatory subunit 2
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IAGP
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HPO |
PMID:10219239 |
MIM:613693 ORPHA:101016 |
NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381
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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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IAGP
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HPO |
PMID:34901807 |
MIM:613688 ORPHA:101016 |
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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KCNJ2
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potassium inwardly rectifying channel subfamily J member 2
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IAGP
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HPO |
PMID:15922306 PMID:35174115 |
MIM:170390 MIM:613980 ORPHA:37553 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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G
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KCNJ5
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potassium inwardly rectifying channel subfamily J member 5
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IAGP
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HPO |
PMID:20560207 |
MIM:613485 ORPHA:101016 ORPHA:37553 |
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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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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IAGP
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HPO |
PMID:9020846 PMID:12522251 PMID:26344792 PMID:30008122 |
MIM:192500 MIM:220400 MIM:607554 ORPHA:101016 ORPHA:90647 |
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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LTBP2
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latent transforming growth factor beta binding protein 2
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IAGP
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HPO |
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ORPHA:3449 |
NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
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G
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MECP2
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methyl-CpG binding protein 2
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IAGP
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HPO |
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MIM:312750 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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G
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NOS1AP
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nitric oxide synthase 1 adaptor protein
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
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G
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RYR2
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ryanodine receptor 2
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IAGP
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ClinVar Annotator: match by term: Prolonged QTc interval
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ClinVar |
PMID:25741868 PMID:28492532 |
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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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SCN10A
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sodium voltage-gated channel alpha subunit 10
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
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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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IAGP
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HPO |
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ORPHA:101016 |
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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IAGP
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HPO |
PMID:11410597 PMID:15184283 |
MIM:603830 ORPHA:101016 |
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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IAGP
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HPO |
PMID:18591664 |
MIM:612955 ORPHA:101016 |
NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
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G
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SVIL
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supervillin
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IAGP
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HPO |
PMID:32779703 |
MIM:619040 |
NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959
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G
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TANGO2
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transport and golgi organization 2 homolog
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IAGP
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HPO |
PMID:26805781 PMID:26805782 |
MIM:616878 |
NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
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G
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TBX5
|
T-box transcription factor 5
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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G
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TECRL
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trans-2,3-enoyl-CoA reductase like
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IAGP
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HPO |
PMID:30790670 |
MIM:614021 |
NCBI chr 4:64,276,298...64,409,460
Ensembl chr 4:64,275,257...64,409,468
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G
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TNNI3K
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TNNI3 interacting kinase
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IAGP
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HPO |
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MIM:616117 |
NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428
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G
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TRDN
|
triadin
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IAGP
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HPO |
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ORPHA:101016 |
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
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G
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CLCNKB
|
chloride voltage-gated channel Kb
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IAGP
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HPO |
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ORPHA:358 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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G
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KCNJ2
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potassium inwardly rectifying channel subfamily J member 2
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IAGP
|
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HPO |
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MIM:170390 ORPHA:37553 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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G
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KCNJ5
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potassium inwardly rectifying channel subfamily J member 5
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IAGP
|
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HPO |
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ORPHA:37553 |
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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G
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SLC12A3
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solute carrier family 12 member 3
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IAGP
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HPO |
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ORPHA:358 |
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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G
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GAA
|
alpha glucosidase
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IAGP
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HPO |
PMID:35386406 |
MIM:232300 |
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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MYH7
|
myosin heavy chain 7
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IAGP
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HPO |
PMID:17372140 |
MIM:255160 |
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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CACNA1S
|
calcium voltage-gated channel subunit alpha1 S
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IAGP
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HPO |
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ORPHA:79102 |
NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
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G
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DOHH
|
deoxyhypusine hydroxylase
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IAGP
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HPO |
PMID:35858628 |
MIM:620066 |
NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674
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G
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GAA
|
alpha glucosidase
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IAGP
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HPO |
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MIM:232300 ORPHA:308552 |
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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GABRA3
|
gamma-aminobutyric acid type A receptor subunit alpha3
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IAGP
|
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HPO |
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ORPHA:79102 |
NCBI chr X:152,166,234...152,451,315
Ensembl chr X:152,166,234...152,451,315
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G
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KCNJ18
|
potassium inwardly rectifying channel subfamily J member 18
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IAGP
|
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HPO |
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ORPHA:79102 |
NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
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G
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MT-CYB
|
mitochondrially encoded cytochrome b
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IAGP
|
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HPO |
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ORPHA:137675 |
NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
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G
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MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
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IAGP
|
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HPO |
PMID:21907147 |
MIM:614947 |
NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
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G
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PRKAG2
|
protein kinase AMP-activated non-catalytic subunit gamma 2
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IAGP
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HPO |
PMID:11407343 PMID:15673802 PMID:15877279 |
MIM:194200 MIM:261740 MIM:600858 |
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
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G
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TRPM4
|
transient receptor potential cation channel subfamily M member 4
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IAGP
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HPO |
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MIM:604559 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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G
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CACNA1C
|
calcium voltage-gated channel subunit alpha1 C
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IAGP
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HPO |
PMID:17224476 |
MIM:611875 |
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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CACNA2D1
|
calcium voltage-gated channel auxiliary subunit alpha2delta 1
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IAGP
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HPO |
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ORPHA:51083 |
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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G
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CACNB2
|
calcium voltage-gated channel auxiliary subunit beta 2
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IAGP
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HPO |
PMID:17224476 |
MIM:611876 |
NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
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G
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CDC73
|
cell division cycle 73
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IAGP
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HPO |
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ORPHA:143 ORPHA:99880 |
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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G
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CDKN1A
|
cyclin dependent kinase inhibitor 1A
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IAGP
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G
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CDKN1B
|
cyclin dependent kinase inhibitor 1B
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IAGP
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HPO |
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ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G
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CDKN2B
|
cyclin dependent kinase inhibitor 2B
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IAGP
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G
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CDKN2C
|
cyclin dependent kinase inhibitor 2C
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IAGP
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G
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KCNH2
|
potassium voltage-gated channel subfamily H member 2
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IAGP
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HPO |
PMID:14676148 |
MIM:609620 ORPHA:51083 |
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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KCNJ2
|
potassium inwardly rectifying channel subfamily J member 2
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IAGP
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HPO |
PMID:15761194 PMID:22155372 PMID:23440193 |
MIM:609622 ORPHA:51083 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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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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IAGP
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HPO |
PMID:15890322 |
MIM:609621 ORPHA:51083 |
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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MEN1
|
menin 1
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IAGP
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HPO |
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ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G
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SLC4A3
|
solute carrier family 4 member 3
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IAGP
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HPO |
PMID:29167417 |
MIM:620231 ORPHA:51083 |
NCBI chr 2:219,627,630...219,641,971
Ensembl chr 2:219,627,394...219,641,980
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G
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SLC8A1
|
solute carrier family 8 member A1
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IAGP
|
DNA:SNP::rs13017846
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RGD |
PMID:22726844 |
RGD:13605621 |
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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ACTC1
|
actin alpha cardiac muscle 1
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IAGP
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HPO |
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ORPHA:99103 |
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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CITED2
|
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
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IAGP
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HPO |
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ORPHA:99103 |
NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
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G
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CLCNKB
|
chloride voltage-gated channel Kb
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IAGP
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HPO |
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ORPHA:358 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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G
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GATA4
|
GATA binding protein 4
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IAGP
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HPO |
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ORPHA:99103 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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G
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GATA6
|
GATA binding protein 6
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IAGP
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HPO |
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ORPHA:99103 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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G
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MYH6
|
myosin heavy chain 6
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IAGP
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HPO |
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ORPHA:99103 |
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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NKX2-5
|
NK2 homeobox 5
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IAGP
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HPO |
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ORPHA:99103 |
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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PRKAG2
|
protein kinase AMP-activated non-catalytic subunit gamma 2
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IAGP
|
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HPO |
PMID:15877279 |
MIM:261740 |
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
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G
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RYR1
|
ryanodine receptor 1
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IAGP
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HPO |
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ORPHA:466650 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G
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SLC12A3
|
solute carrier family 12 member 3
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IAGP
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HPO |
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ORPHA:358 |
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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G
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TBX20
|
T-box transcription factor 20
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IAGP
|
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HPO |
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ORPHA:99103 |
NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
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G
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TLL1
|
tolloid like 1
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IAGP
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HPO |
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ORPHA:99103 |
NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
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G
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TNNC1
|
troponin C1, slow skeletal and cardiac type
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IAGP
|
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HPO |
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MIM:613243 |
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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ABCC9
|
ATP binding cassette subfamily C member 9
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IAGP
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HPO |
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ORPHA:130 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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G
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AKAP9
|
A-kinase anchoring protein 9
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IAGP
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HPO |
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ORPHA:130 |
NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
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G
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CACNA1C
|
calcium voltage-gated channel subunit alpha1 C
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IAGP
|
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HPO |
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ORPHA:130 |
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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CACNA2D1
|
calcium voltage-gated channel auxiliary subunit alpha2delta 1
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IAGP
|
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HPO |
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ORPHA:130 |
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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G
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CACNB2
|
calcium voltage-gated channel auxiliary subunit beta 2
|
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IAGP
|
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HPO |
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ORPHA:130 |
NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
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G
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GPD1L
|
glycerol-3-phosphate dehydrogenase 1 like
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IAGP
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HPO |
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ORPHA:130 |
NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
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G
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GYG1
|
glycogenin 1
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IAGP
|
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HPO |
PMID:20357282 |
MIM:613507 ORPHA:263297 |
NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775
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G
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HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
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IAGP
|
|
HPO |
PMID:19165230 |
MIM:613123 ORPHA:130 |
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
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G
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KCND3
|
potassium voltage-gated channel subfamily D member 3
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IAGP
|
|
HPO |
PMID:21349352 |
MIM:616399 ORPHA:130 |
NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668
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G
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KCNE3
|
potassium voltage-gated channel subfamily E regulatory subunit 3
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IAGP
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HPO |
PMID:19122847 |
MIM:613119 ORPHA:130 |
NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
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G
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KCNE5
|
potassium voltage-gated channel subfamily E regulatory subunit 5
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IAGP
|
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HPO |
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ORPHA:130 |
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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KCNJ8
|
potassium inwardly rectifying channel subfamily J member 8
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IAGP
|
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HPO |
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ORPHA:130 |
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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G
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PKP2
|
plakophilin 2
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IAGP
|
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HPO |
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ORPHA:130 |
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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POLG
|
DNA polymerase gamma, catalytic subunit
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IAGP
|
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HPO |
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ORPHA:94125 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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G
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PRKAG2
|
protein kinase AMP-activated non-catalytic subunit gamma 2
|
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IAGP
|
|
HPO |
PMID:15877279 |
MIM:261740 |
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
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G
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RANGRF
|
RAN guanine nucleotide release factor
|
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IAGP
|
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HPO |
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ORPHA:130 |
NCBI chr17:8,288,670...8,290,087
Ensembl chr17:8,288,654...8,290,092
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G
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SCN10A
|
sodium voltage-gated channel alpha subunit 10
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IAGP
|
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HPO |
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ORPHA:130 |
NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
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G
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SCN1B
|
sodium voltage-gated channel beta subunit 1
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IAGP
|
|
HPO |
PMID:18464934 |
MIM:612838 ORPHA:130 |
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
|
sodium voltage-gated channel beta subunit 2
|
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IAGP
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HPO |
PMID:19808477 |
MIM:615378 ORPHA:130 |
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
|
sodium voltage-gated channel beta subunit 3
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IAGP
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HPO |
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MIM:613120 ORPHA:130 |
NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
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G
|
SCN5A
|
sodium voltage-gated channel alpha subunit 5
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IAGP
|
|
HPO |
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ORPHA:130 |
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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SCNN1A
|
sodium channel epithelial 1 subunit alpha
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IAGP
|
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HPO |
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ORPHA:130 |
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
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G
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SEMA3A
|
semaphorin 3A
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IAGP
|
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HPO |
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ORPHA:130 |
NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
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G
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SLMAP
|
sarcolemma associated protein
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IAGP
|
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HPO |
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ORPHA:130 |
NCBI chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003
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G
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TRPM4
|
transient receptor potential cation channel subfamily M member 4
|
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IAGP
|
|
HPO |
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ORPHA:130 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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|
|
G
|
CALM1
|
calmodulin 1
|
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IAGP
|
|
HPO |
PMID:23388215 |
MIM:616247 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
|
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G
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CALM3
|
calmodulin 3
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IAGP
|
|
HPO |
PMID:25460178 |
MIM:618782 |
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
|
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G
|
SCN4B
|
sodium voltage-gated channel beta subunit 4
|
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IAGP
|
|
HPO |
PMID:17592081 |
MIM:611819 |
NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
|
|
|
G
|
DSC2
|
desmocollin 2
|
susceptibility
|
IAGP
|
DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human)
|
RGD |
PMID:25497880 |
RGD:243065272 |
NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
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G
|
GYG1
|
glycogenin 1
|
|
IAGP
|
|
HPO |
PMID:20357282 |
MIM:613507 ORPHA:263297 |
NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775
|
|
G
|
HCN4
|
hyperpolarization activated cyclic nucleotide gated potassium channel 4
|
|
IAGP
|
|
HPO |
PMID:25145518 |
MIM:163800 |
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
|
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G
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JUP
|
junction plakoglobin
|
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IAGP
|
|
HPO |
PMID:11691526 PMID:17924338 |
MIM:601214 MIM:611528 |
NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
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G
|
MYL2
|
myosin light chain 2
|
|
IAGP
|
|
HPO |
PMID:9535554 PMID:12404107 |
MIM:608758 |
NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434
|
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G
|
MYL3
|
myosin light chain 3
|
|
IAGP
|
|
HPO |
PMID:12021217 |
MIM:608751 |
NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178
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|
G
|
PRKAG2
|
protein kinase AMP-activated non-catalytic subunit gamma 2
|
|
IAGP
|
|
HPO |
PMID:15877279 |
MIM:261740 |
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
|
|
Term paths to the root
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