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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
CLINVAR |
|
|
|
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 |
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Global developmental delay
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
|
28777934 |
2017 |
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Optic Atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Scoliosis, unspecified
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebral Amyloid Angiopathy
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease.
|
29458411 |
2018 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Developmental regression
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Central visual impairment
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebral cortical atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
AURAL ATRESIA, CONGENITAL
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Gene-based testing revealed study-wide significant associations (P ≤ 2.0 × 10<sup>-6</sup>) for the NFT + CAA outcome with adjacent genes TRAPPC12, TRAPPC12-AS1, and ADI1.
|
29458411 |
2018 |
Developmental delay (disorder)
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
|
28777934 |
2017 |
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle Spasticity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Myoclonus
|
0.100 |
Biomarker
|
phenotype |
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 |
|
|
|