Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Jagged 1
JAG1 (20p12.2)


* Charcot-Marie-Tooth disease, axonal, related to JAG1 - CMT2 (14.76)
Jagged 2
JAG2 (14q32.33)


* Muscular dystrophy, LGMDR27 - LGMDR27 (1.40)
Junction plakoglobin
JUP (17q21.2)


* naxos disease - (10.125, 10.134)
* arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 (10.125, 10.134)
Junctophilin 1
JPH1 (8q21.11)


* Congenital myopathy 25 - CMYO25 (3.66)
Junctophilin-2
JPH2 (20q13.12)


* Hypertrophic cardiomyopathy related to junctophilin - (10.18, 10.85)
* Cardiomyopathy, familial hypertrophic, 17 - CMH17 (10.18, 10.85)
* Dilated cardiomyopathy, 2E - CMD2E (10.18, 10.85)