TFG, trafficking from ER to golgi regulator, 10342

N. diseases: 104; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR Proteasome impairment in neural cells derived from HMSN-P patient iPSCs. 28196470 2017
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		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
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum. 28124177 2017
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. 27492651 2016
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. 27492651 2016
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		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
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin-proteasome system. 24613659 2014
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. 23479643 2013
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. 23479643 2013
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		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
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
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
CUI: C3714897
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. 22883144 2012
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Okinawa type 		0.700 Biomarker disease CTD_human
CUI: C1858338
Disease: Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Okinawa type 		0.700 Biomarker disease GENOMICS_ENGLAND