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ONTOLOGY REPORT - ANNOTATIONS


Term:arrhythmogenic right ventricular cardiomyopathy
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Accession:DOID:0050431 term browser browse the term
Definition:A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Synonyms:exact_synonym: ARVC;   ARVD;   ARVD-C;   Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia;   Arrhythmogenic Right Ventricular Dysplasia;   CARDIOMYOPATHY, ARVC;   Right ventricular cardiomyopathy
 primary_id: MESH:D019571
 alt_id: RDO:0004313
 xref: NCI:C84571;   OMIM:PS107970;   ORDO:217656;   ORDO:247
For additional species annotation, visit the Alliance of Genome Resources.


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arrhythmogenic right ventricular cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC9 ATP binding cassette subfamily C member 9 JBrowse link 12 66,960,888 67,102,496 RGD:9068941
G ACTN2 actinin alpha 2 JBrowse link 1 217,276,899 217,321,103 RGD:9068941
G ANK2 ankyrin 2 JBrowse link 4 115,760,071 116,446,170 RGD:9068941
G BAG3 BCL2 associated athanogene 3 JBrowse link 10 119,654,366 119,665,964 RGD:9068941
G CALR3 calreticulin 3 JBrowse link 19 16,948,431 16,965,232 RGD:9068941
G CDH2 cadherin 2 JBrowse link 18 24,812,019 25,008,249 RGD:9068941
G DES desmin JBrowse link 2B 225,266,081 225,274,446 RGD:9068941
G DMD dystrophin JBrowse link X 31,279,878 32,974,614 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 18 27,894,596 27,930,838 RGD:9068941
G DSG2 desmoglein 2 JBrowse link 18 28,313,240 28,363,781 RGD:9068941
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:9068941
G FHL2 four and a half LIM domains 2 JBrowse link 2A 106,446,368 106,524,555 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:9068941
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 JBrowse link 15 70,994,405 71,043,256 RGD:9068941
G IFT43 intraflagellar transport 43 JBrowse link 14 75,387,742 75,485,904 RGD:9068941
G IL6R interleukin 6 receptor JBrowse link 1 133,374,078 133,433,089 RGD:9068941
G JUP junction plakoglobin JBrowse link 17 15,747,163 15,777,479 RGD:9068941
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 21 34,187,482 34,252,573 RGD:9068941
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 7 154,680,927 154,713,525 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 6 113,995,888 114,141,276 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
G MYOM1 myomesin 1 JBrowse link 18 13,368,052 13,523,834 RGD:9068941
G PDLIM3 PDZ and LIM domain 3 JBrowse link 4 189,880,930 189,914,707 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 12 55,925,514 56,030,996 RGD:9068941
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like JBrowse link 19 50,915,901 50,950,837 RGD:9068941
G RBM20 RNA binding motif protein 20 JBrowse link 10 110,767,653 110,882,909 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 1 217,598,069 218,384,849 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 3 38,726,612 38,825,308 RGD:9068941
G SNTA1 syntrophin alpha 1 JBrowse link 20 30,810,787 30,844,472 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 14 75,359,505 75,382,412 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 3 14,383,724 14,402,485 RGD:9068941
G TTN titin JBrowse link 2B 183,487,352 183,767,268 RGD:9068941
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 3 14,403,958 14,437,373 RGD:9068941
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG2 desmoglein 2 JBrowse link 18 28,313,240 28,363,781 RGD:9068941
G PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 1 217,598,069 218,384,849 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 14 75,359,505 75,382,412 RGD:7240710
RGD:9068941
G TTN titin JBrowse link 2B 183,487,352 183,767,268 RGD:9068941
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG2 desmoglein 2 JBrowse link 18 28,313,240 28,363,781 RGD:7240710
RGD:9068941
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSC2 desmocollin 2 JBrowse link 18 27,894,596 27,930,838 RGD:7240710
RGD:9068941
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JUP junction plakoglobin JBrowse link 17 15,747,163 15,777,479 RGD:7240710
RGD:9068941
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTNNA3 catenin alpha 3 JBrowse link 10 64,712,491 66,460,336 RGD:7240710
RGD:9068941
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RYR2 ryanodine receptor 2 JBrowse link 1 217,598,069 218,384,849 RGD:7240710
RGD:9068941
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPSA ribosomal protein SA JBrowse link 3 39,591,012 39,596,745 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 3 14,383,724 14,402,485 RGD:7240710
RGD:9068941
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:7240710
RGD:9068941
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DES desmin JBrowse link 2B 225,266,081 225,274,446 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 12 56,077,504 56,142,376 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 18 27,894,596 27,930,838 RGD:9068941
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 12 56,177,209 56,421,662 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G MYH6 myosin heavy chain 6 JBrowse link 14 22,294,965 22,321,331 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 12 55,925,514 56,030,996 RGD:7240710
RGD:9068941
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 7 155,292,675 155,610,673 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 1 217,598,069 218,384,849 RGD:9068941
G TTN titin JBrowse link 2B 183,487,352 183,767,268 RGD:9068941
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 12 56,065,505 56,076,026 RGD:9068941
Carvajal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:7240710
RGD:9068941
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:7240710
RGD:9068941
myofibrillar myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link 2B 225,058,771 225,067,626 RGD:9068941
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 JBrowse link 2B 225,078,308 225,085,205 RGD:9068941
G ATG9A autophagy related 9A JBrowse link 2B 225,067,959 225,078,272 RGD:9068941
G CATIP ciliogenesis associated TTC17 interacting protein JBrowse link 2B 224,213,335 224,223,583 RGD:9068941
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 JBrowse link 2B 224,810,584 224,813,739 RGD:9068941
G CFAP65 cilia and flagella associated protein 65 JBrowse link 2B 224,854,262 224,892,529 RGD:9068941
G CNOT9 CCR4-NOT transcription complex subunit 9 JBrowse link 2B 224,422,472 224,450,141 RGD:9068941
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 JBrowse link 2B 225,022,210 225,028,478 RGD:9068941
G CRYBA2 crystallin beta A2 JBrowse link 2B 224,841,620 224,844,836 RGD:9068941
G CTDSP1 CTD small phosphatase 1 JBrowse link 2B 224,255,827 224,262,000 RGD:9068941
G DES desmin JBrowse link 2B 225,266,081 225,274,446 RGD:7240710
RGD:9068941
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 2B 225,127,967 225,135,556 RGD:9068941
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 7 160,646,321 160,726,447 RGD:9068941
G DNPEP aspartyl aminopeptidase JBrowse link 2B 225,221,703 225,247,803 RGD:9068941
G FEV FEV transcription factor, ETS family member JBrowse link 2B 224,832,403 224,838,813 RGD:9068941
G GLB1L galactosidase beta 1 like JBrowse link 2B 225,085,154 225,093,644 RGD:9068941
G IHH Indian hedgehog signaling molecule JBrowse link 2B 224,905,488 224,917,887 RGD:9068941
G LOC100988698 mitochondrial chaperone BCS1 JBrowse link 2B 224,512,221 224,516,856 RGD:9068941
G LOC100989602 sterol 26-hydroxylase, mitochondrial JBrowse link 2B 224,637,238 224,671,474 RGD:9068941
G LOC100995882 tubulin alpha-4A chain JBrowse link 2B 225,098,446 225,102,188 RGD:9068941
G NHEJ1 non-homologous end joining factor 1 JBrowse link 2B 224,926,183 225,012,551 RGD:9068941
G PLCD4 phospholipase C delta 4 JBrowse link 2B 224,461,261 224,490,345 RGD:9068941
G PNKD PNKD metallo-beta-lactamase domain containing JBrowse link 2B 224,127,504 224,204,046 RGD:9068941
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 JBrowse link 2B 224,679,831 224,687,705 RGD:9068941
G PTPRN protein tyrosine phosphatase receptor type N JBrowse link 2B 225,138,283 225,158,118 RGD:9068941
G RESP18 regulated endocrine specific protein 18 JBrowse link 2B 225,175,198 225,180,916 RGD:9068941
G RETREG2 reticulophagy regulator family member 2 JBrowse link 2B 225,028,498 225,034,024 RGD:9068941
G RNF25 ring finger protein 25 JBrowse link 2B 224,517,286 224,525,253 RGD:9068941
G SLC11A1 solute carrier family 11 member 1 JBrowse link 2B 224,238,284 224,252,941 RGD:9068941
G SLC23A3 solute carrier family 23 member 3 JBrowse link 2B 225,011,825 225,020,503 RGD:9068941
G STK16 serine/threonine kinase 16 JBrowse link 2B 225,093,621 225,098,504 RGD:9068941
G STK36 serine/threonine kinase 36 JBrowse link 2B 224,525,226 224,555,583 RGD:9068941
G TMBIM1 transmembrane BAX inhibitor motif containing 1 JBrowse link 2B 224,131,476 224,149,669 RGD:9068941
G TTLL4 tubulin tyrosine ligase like 4 JBrowse link 2B 224,563,626 224,610,511 RGD:9068941
G USP37 ubiquitin specific peptidase 37 JBrowse link 2B 224,304,520 224,422,647 RGD:9068941
G VIL1 villin 1 JBrowse link 2B 224,274,548 224,304,550 RGD:9068941
G WNT10A Wnt family member 10A JBrowse link 2B 224,735,800 224,748,567 RGD:9068941
G WNT6 Wnt family member 6 JBrowse link 2B 224,714,217 224,728,557 RGD:9068941
G ZFAND2B zinc finger AN1-type containing 2B JBrowse link 2B 225,055,835 225,058,647 RGD:9068941
G ZNF142 zinc finger protein 142 JBrowse link 2B 224,489,913 224,512,205 RGD:9068941
Naxos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JUP junction plakoglobin JBrowse link 17 15,747,163 15,777,479 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11835
    Developmental Diseases 8163
      congenital heart disease 822
        arrhythmogenic right ventricular cardiomyopathy 81
          Naxos disease + 2
          arrhythmogenic right ventricular dysplasia 1 5
          arrhythmogenic right ventricular dysplasia 10 1
          arrhythmogenic right ventricular dysplasia 11 1
          arrhythmogenic right ventricular dysplasia 12 1
          arrhythmogenic right ventricular dysplasia 13 1
          arrhythmogenic right ventricular dysplasia 2 1
          arrhythmogenic right ventricular dysplasia 3 0
          arrhythmogenic right ventricular dysplasia 4 0
          arrhythmogenic right ventricular dysplasia 5 2
          arrhythmogenic right ventricular dysplasia 6 0
          arrhythmogenic right ventricular dysplasia 8 1
          arrhythmogenic right ventricular dysplasia 9 12
          myofibrillar myopathy 1 40
Path 2
Term Annotations click to browse term
  disease 11835
    Developmental Diseases 8163
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6987
        Congenital Abnormalities 3437
          Cardiovascular Abnormalities 872
            congenital heart disease 822
              arrhythmogenic right ventricular cardiomyopathy 81
                Naxos disease + 2
                arrhythmogenic right ventricular dysplasia 1 5
                arrhythmogenic right ventricular dysplasia 10 1
                arrhythmogenic right ventricular dysplasia 11 1
                arrhythmogenic right ventricular dysplasia 12 1
                arrhythmogenic right ventricular dysplasia 13 1
                arrhythmogenic right ventricular dysplasia 2 1
                arrhythmogenic right ventricular dysplasia 3 0
                arrhythmogenic right ventricular dysplasia 4 0
                arrhythmogenic right ventricular dysplasia 5 2
                arrhythmogenic right ventricular dysplasia 6 0
                arrhythmogenic right ventricular dysplasia 8 1
                arrhythmogenic right ventricular dysplasia 9 12
                myofibrillar myopathy 1 40
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.