PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223343
rs863223343
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015