rs59614505
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs59614505
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs1535757
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs1535759
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs2147064
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs9314750
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
Multiple Mitochondrial Dysfunctions Syndrome
|
|
0.710 |
GeneticVariation |
BEFREE |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
Increased serum lactate
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
Muscle Spasticity
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
Pachygyria
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
Generalized tonic seizures
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
Poor school performance
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
Microcephaly (physical finding)
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
Leukodystrophy
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs776679653
|
Entrez Id: |
81689 |
Gene Symbol: |
ISCA1 |
ISCA1
|
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 |