Arrhythmogenic right ventricular cardiomyopathy (WP2118)

Homo sapiens

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease that may result in arrhythmia, heart failure, and sudden death. Hallmark pathologies of ARVC include myocyte loss and fibrofatty replacement. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP2118 CPTAC Assay Portal]

Authors

Nathan Salomonis , Kristina Hanspers , Christine Chichester , Alex Pico , Friederike Ehrhart , Andika Tan , Eric Weitz , and Finterly Hu

Activity

last edited

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Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

arrhythmogenic right ventricular cardiomyopathy

Pathway Ontology

arrhythmogenic right ventricular cardiomyopathy pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
Calcium Metabolite kegg.compound:C00076
Sodium Metabolite kegg.compound:C01330
LEF1 GeneProduct ncbigene:51176 Original kegg element: gene;63;hsa:51176 hsa:6932 hsa:6934 hsa:83439
JUP GeneProduct ncbigene:3728 Original kegg element: gene;33;hsa:3728
ACTB GeneProduct ncbigene:60 Original kegg element: gene;53;hsa:60 hsa:71
PKP2 GeneProduct ncbigene:5318 Original kegg element: gene;35;hsa:5318
CACNB2 GeneProduct ncbigene:783 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
ITGB6 GeneProduct ncbigene:3694 Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ACTN2 GeneProduct ncbigene:88 Original kegg element: gene;59;hsa:81 hsa:87 hsa:88 hsa:89
JUP GeneProduct ncbigene:3728 Original kegg element: gene;31;hsa:3728
ITGA9 GeneProduct ncbigene:3680 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
CACNA1C GeneProduct ncbigene:775 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
TCF7L1 GeneProduct ncbigene:83439 Original kegg element: gene;63;hsa:51176 hsa:6932 hsa:6934 hsa:83439
CTNNA3 GeneProduct ncbigene:29119 Original kegg element: gene;58;hsa:1495 hsa:1496 hsa:29119
ITGA6 GeneProduct ncbigene:3655 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGA3 GeneProduct ncbigene:3675 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
JUP GeneProduct ncbigene:3728 Original kegg element: gene;40;hsa:3728
ITGB8 GeneProduct ncbigene:3696 Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
DSP GeneProduct ncbigene:1832 Original kegg element: gene;45;hsa:1832
ATP2A2 GeneProduct ncbigene:488 Original kegg element: gene;5;hsa:488
CACNG6 GeneProduct ncbigene:59285 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
ITGA2 GeneProduct ncbigene:3673 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
DSP GeneProduct ncbigene:1832 Original kegg element: gene;44;hsa:1832
ITGA1 GeneProduct ncbigene:3672 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
DSP GeneProduct ncbigene:1832 Original kegg element: gene;43;hsa:1832
ITGB7 GeneProduct ncbigene:3695 Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGAV GeneProduct ncbigene:3685 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ITGB5 GeneProduct ncbigene:3693 Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGB3 GeneProduct ncbigene:3690 Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ACTG1 GeneProduct ncbigene:71 Original kegg element: gene;53;hsa:60 hsa:71
SLC8A1 GeneProduct ncbigene:6546 Original kegg element: gene;6;hsa:6546
SGCB GeneProduct ncbigene:6443 Original kegg element: gene;9;hsa:6443
ITGA7 GeneProduct ncbigene:3679 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
SGCD GeneProduct ncbigene:6444 Original kegg element: gene;1;hsa:6444
CTNNB1 GeneProduct ncbigene:1499 Original kegg element: gene;64;hsa:1499
CACNG8 GeneProduct ncbigene:59283 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
ITGB4 GeneProduct ncbigene:3691 Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
ITGA2B GeneProduct ncbigene:3674 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
DSC2 GeneProduct ncbigene:1824 Original kegg element: gene;24;hsa:1824
CTNNA3 GeneProduct ncbigene:29119 Original kegg element: gene;61;hsa:1495 hsa:1496 hsa:29119
CACNG4 GeneProduct ncbigene:27092 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
DSG2 GeneProduct ncbigene:1829 Original kegg element: gene;28;hsa:1829
ACTG1 GeneProduct ncbigene:71 Original kegg element: gene;65;hsa:60 hsa:71
PKP2 GeneProduct ncbigene:5318 Original kegg element: gene;42;hsa:5318
PKP2 GeneProduct ncbigene:5318 Original kegg element: gene;39;hsa:5318
DSG2 GeneProduct ncbigene:1829 Original kegg element: gene;29;hsa:1829
CACNB4 GeneProduct ncbigene:785 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
ITGA11 GeneProduct ncbigene:22801 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
ACTN1 GeneProduct ncbigene:87 Original kegg element: gene;59;hsa:81 hsa:87 hsa:88 hsa:89
DSG2 GeneProduct ncbigene:1829 Original kegg element: gene;25;hsa:1829
CDH2 GeneProduct ncbigene:1000 Original kegg element: gene;55;hsa:1000
CACNB1 GeneProduct ncbigene:782 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG7 GeneProduct ncbigene:59284 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
JUP GeneProduct ncbigene:3728 Original kegg element: gene;36;hsa:3728
ACTN4 GeneProduct ncbigene:81 Original kegg element: gene;59;hsa:81 hsa:87 hsa:88 hsa:89
ITGA8 GeneProduct ncbigene:8516 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
DSC2 GeneProduct ncbigene:1824 Original kegg element: gene;23;hsa:1824
RYR2 GeneProduct ncbigene:6262 Original kegg element: gene;4;hsa:6262
JUP GeneProduct ncbigene:3728 Original kegg element: gene;60;hsa:3728
LMNA GeneProduct ncbigene:4000 Original kegg element: gene;16;hsa:4000
CTNNA1 GeneProduct ncbigene:1495 Original kegg element: gene;61;hsa:1495 hsa:1496 hsa:29119
TCF7L2 GeneProduct ncbigene:6934 Original kegg element: gene;63;hsa:51176 hsa:6932 hsa:6934 hsa:83439
DSG2 GeneProduct ncbigene:1829 Original kegg element: gene;26;hsa:1829
SGCG GeneProduct ncbigene:6445 Original kegg element: gene;8;hsa:6445
PKP2 GeneProduct ncbigene:5318 Original kegg element: gene;34;hsa:5318
CTNNA1 GeneProduct ncbigene:1495 Original kegg element: gene;58;hsa:1495 hsa:1496 hsa:29119
DAG1 GeneProduct ncbigene:1605 Original kegg element: gene;12;hsa:1605
ACTB GeneProduct ncbigene:60 Original kegg element: gene;65;hsa:60 hsa:71
CACNA2D1 GeneProduct ncbigene:781 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
DSC2 GeneProduct ncbigene:1824 Original kegg element: gene;27;hsa:1824
CTNNA2 GeneProduct ncbigene:1496 Original kegg element: gene;58;hsa:1495 hsa:1496 hsa:29119
PKP2 GeneProduct ncbigene:5318 Original kegg element: gene;32;hsa:5318
CACNA1D GeneProduct ncbigene:776 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
TCF7 GeneProduct ncbigene:6932 Original kegg element: gene;63;hsa:51176 hsa:6932 hsa:6934 hsa:83439
ITGA5 GeneProduct ncbigene:3678 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
CACNG3 GeneProduct ncbigene:10368 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNG5 GeneProduct ncbigene:27091 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
DAG1 GeneProduct ncbigene:1605 Original kegg element: gene;11;hsa:1605
ITGA4 GeneProduct ncbigene:3676 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
EMD GeneProduct ncbigene:2010 Original kegg element: gene;15;hsa:2010
CDH2 GeneProduct ncbigene:1000 Original kegg element: gene;56;hsa:1000
CTNNA2 GeneProduct ncbigene:1496 Original kegg element: gene;61;hsa:1495 hsa:1496 hsa:29119
CACNG1 GeneProduct ncbigene:786 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA1F GeneProduct ncbigene:778 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
PKP2 GeneProduct ncbigene:5318 Original kegg element: gene;37;hsa:5318
JUP GeneProduct ncbigene:3728 Original kegg element: gene;41;hsa:3728
CACNA2D3 GeneProduct ncbigene:55799 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
CACNA1S GeneProduct ncbigene:779 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
JUP GeneProduct ncbigene:3728 Original kegg element: gene;57;hsa:3728
DSC2 GeneProduct ncbigene:1824 Original kegg element: gene;30;hsa:1824
CACNA2D4 GeneProduct ncbigene:93589 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
ACTN3 GeneProduct ncbigene:89 Original kegg element: gene;59;hsa:81 hsa:87 hsa:88 hsa:89
ITGB1 GeneProduct ncbigene:3688 Original kegg element: gene;52;hsa:3688 hsa:3690 hsa:3691 hsa:3693 hsa:3694 hsa:3695 hsa:3696
CACNG2 GeneProduct ncbigene:10369 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
DES GeneProduct ncbigene:1674 Original kegg element: gene;62;hsa:1674
LAMA2 GeneProduct ncbigene:3908 Original kegg element: gene;13;hsa:3908
ITGA10 GeneProduct ncbigene:8515 Original kegg element: gene;51;hsa:22801 hsa:3655 hsa:3672 hsa:3673 hsa:3674 hsa:3675 hsa:3676 hsa:3678 hsa:3679 hsa:3680 hsa:3685 hsa:8515 hsa:8516
CACNA2D2 GeneProduct ncbigene:9254 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
SGCA GeneProduct ncbigene:6442 Original kegg element: gene;10;hsa:6442
JUP GeneProduct ncbigene:3728 Original kegg element: gene;38;hsa:3728
CACNB3 GeneProduct ncbigene:784 Original kegg element: gene;3;hsa:10368 hsa:10369 hsa:27091 hsa:27092 hsa:55799 hsa:59283 hsa:59284 hsa:59285 hsa:775 hsa:776 hsa:778 hsa:779 hsa:781 hsa:782 hsa:783 hsa:784 hsa:785 hsa:786 hsa:9254 hsa:93589
GJA1 GeneProduct ncbigene:2697 Original kegg element: gene;68;hsa:2697
GJA1 GeneProduct ncbigene:2697 Original kegg element: gene;67;hsa:2697
GJA1 GeneProduct ncbigene:2697 Original kegg element: gene;66;hsa:2697
GJA1 GeneProduct ncbigene:2697 Original kegg element: gene;69;hsa:2697
DSP GeneProduct ncbigene:1832 Original kegg element: gene;48;hsa:1832
DSP GeneProduct ncbigene:1832 Original kegg element: gene;47;hsa:1832
DSP GeneProduct ncbigene:1832 Original kegg element: gene;46;hsa:1832
DMD GeneProduct ncbigene:1756 Original kegg element: gene;17;hsa:1756
DES GeneProduct ncbigene:1674 Original kegg element: gene;54;hsa:1674

References

  1. KEGG Pathway: map05412