SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Disease: Peripheral Nervous System Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C4721453
Disease:
Peripheral Nervous System Diseases 		0.010 GeneticVariation BEFREE Our findings are of clinical interest because they might help explain the remarkable differences in the degree of muscle lesions caused by caveolin-3 mutations and also the co-occurrence of peripheral neuropathy in the R26Q caveolinopathy case presented. 20472890 2010