ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
|
28777934 |
2017 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
|
28777934 |
2017 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
|
28777934 |
2017 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
|
28777934 |
2017 |
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Developmental delay (disorder)
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
|
28777934 |
2017 |
Global developmental delay
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
|
28777934 |
2017 |
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Encephalopathies
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Here, we report that variants in TRAPPC12 result in progressive childhood encephalopathy.
|
28777934 |
2017 |
Encephalopathies
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
Cerebral Amyloid Angiopathy
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease.
|
29458411 |
2018 |
Deglutition Disorders
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Spasticity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Myoclonus
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Optic Atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Scoliosis, unspecified
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Feeding difficulties
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hypsarrhythmia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
hearing impairment
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebral ventriculomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Developmental regression
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|