rs730882246, ISCA2;NPC2

N. diseases: 8
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
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
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
Death in infancy
CUI: C1858430
Disease: Death in infancy
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Spastic Quadriplegia
CUI: C0426970
Disease: Spastic Quadriplegia
0.700 GeneticVariation CLINVAR
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
0.700 GeneticVariation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
0.700 GeneticVariation CLINVAR