rs730882246, ISCA2;NPC2

N. diseases: 8
Disease: Multiple Mitochondrial Dysfunctions Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Mitochondrial Dysfunctions Syndrome
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
0.700 GeneticVariation CLINVAR ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. 25539947 2015
Multiple Mitochondrial Dysfunctions Syndrome
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
0.700 GeneticVariation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015