Leukodystrophy
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Spasticity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyperreflexia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Feeding difficulties
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Growth delay
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Delayed myelination
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebral ventriculomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Increased serum lactate
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Developmental regression
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dilated ventricles (finding)
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Spasticity, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
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 |
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 |
Leukodystrophy
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
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 |
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 |
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 |
Muscle Spasticity
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
Pachygyria
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
Increased serum lactate
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
Generalized tonic seizures
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
Poor school performance
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |