Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The calcium-binding protein ALG-2 promotes endoplasmic reticulum exit site localization and polymerization of Trk-fused gene (TFG) protein.
|
27813252 |
2017 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
|
28124177 |
2017 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Proteasome impairment in neural cells derived from HMSN-P patient iPSCs.
|
28196470 |
2017 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
|
27492651 |
2016 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.
|
25725944 |
2015 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin-proteasome system.
|
24613659 |
2014 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.
|
23553329 |
2013 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
|
22883144 |
2012 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
|
22883144 |
2012 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
|
22883144 |
2012 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Neuropathy, hereditary motor and sensory, Okinawa type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|