rs730882246, ISCA2;NPC2

N. diseases: 8
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
CUI: C4225348
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
0.700 CausalMutation CLINVAR ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. 25539947 2015
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
CUI: C4225348
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
0.700 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015