rs776679653, ISCA1

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
0.800 CausalMutation CLINVAR Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in <i>ISCA1</i>. 30105122 2018
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
0.800 GeneticVariation UNIPROT Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
0.800 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Multiple Mitochondrial Dysfunctions Syndrome
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
0.710 GeneticVariation BEFREE Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Multiple Mitochondrial Dysfunctions Syndrome
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
0.710 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Increased serum lactate
CUI: C1836440
Disease: Increased serum lactate
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Pachygyria
CUI: C0266483
Disease: Pachygyria
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Generalized tonic seizures
CUI: C1836508
Disease: Generalized tonic seizures
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017