SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
|
26542466 |
2016 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
|
26542466 |
2016 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
|
26542466 |
2016 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
|
26542466 |
2016 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.
|
26431026 |
2015 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
|
25529582 |
2015 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spastic Paraplegia, Hereditary
|
0.310 |
Biomarker
|
disease |
BEFREE |
Variants in this gene have been found responsible for a recently described form of hereditary spastic paraplegia called SPG49 in two previous reports.
|
27406698 |
2016 |
Neuroaxonal Dystrophies
|
0.310 |
Biomarker
|
group |
CTD_human |
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
|
26555167 |
2015 |
Neuroaxonal Dystrophies
|
0.310 |
Biomarker
|
group |
BEFREE |
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
|
26555167 |
2015 |
Paraparesis, Spastic
|
0.310 |
Biomarker
|
phenotype |
CTD_human |
The discovered TECPR2 mutation implicates autophagy, a central intracellular mechanism, in spastic paraparesis.
|
23176824 |
2012 |
Paraparesis, Spastic
|
0.310 |
GeneticVariation
|
phenotype |
BEFREE |
The discovered TECPR2 mutation implicates autophagy, a central intracellular mechanism, in spastic paraparesis.
|
23176824 |
2012 |
Spastic Paraplegia, Hereditary
|
0.310 |
Biomarker
|
disease |
CTD_human |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |
Infantile Neuroaxonal Dystrophy
|
0.300 |
Biomarker
|
disease |
CTD_human |
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
|
26555167 |
2015 |
Adult Neuroaxonal Dystrophy
|
0.300 |
Biomarker
|
disease |
CTD_human |
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
|
26555167 |
2015 |
Juvenile Neuroaxonal Dystrophy
|
0.300 |
Biomarker
|
disease |
CTD_human |
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
|
26555167 |
2015 |
Late Infantile Neuroaxonal Dystrophy
|
0.300 |
Biomarker
|
disease |
CTD_human |
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
|
26555167 |
2015 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |
X-Linked, Spastic Paraplegia, Hereditary
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
|
23176824 |
2012 |