ISCA1, iron-sulfur cluster assembly 1, 81689

N. diseases: 23; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins. 29767723 2018
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		0.600 CausalMutation disease CLINVAR Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1. 30105122 2018
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		0.600 CausalMutation disease CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		0.600 GeneticVariation disease UNIPROT Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 GeneticVariation disease BEFREE ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins. 29767723 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 CausalMutation disease CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		0.110 CausalMutation disease CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		0.110 GeneticVariation disease BEFREE Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 Biomarker disease HPO
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 CausalMutation phenotype CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.100 CausalMutation disease CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 CausalMutation phenotype CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		0.100 CausalMutation phenotype CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation phenotype CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.100 CausalMutation phenotype CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation disease CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation phenotype CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO