ISCA1, iron-sulfur cluster assembly 1, 81689

N. diseases: 23; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C4539919
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		T 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
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
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
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C4539919
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		T 0.800 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
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
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C3502075
Disease:
Multiple Mitochondrial Dysfunctions Syndrome 		T 0.710 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs59614505
rs59614505
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs59614505
rs59614505
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0596887
Disease:
mathematical ability 		G 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1535757
rs1535757
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1535759
rs1535759
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2147064
rs2147064
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C1861866
Disease:
Aplasia/Hypoplasia of the corpus callosum 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C1836440
Disease:
Increased serum lactate 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0026838
Disease:
Muscle Spasticity 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C2315100
Disease:
Pediatric failure to thrive 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0266483
Disease:
Pachygyria 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C1836508
Disease:
Generalized tonic seizures 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C4551563
Disease:
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs776679653
rs776679653
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0023520
Disease:
Leukodystrophy 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
dbSNP: rs9314750
rs9314750
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017