rs587783070, IARS2

N. diseases: 3
Disease: Cataract ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cataract
CUI: C0086543
Disease: Cataract
0.700 CausalMutation CLINVAR Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 25130867 2014