Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE A c.349G>T transversion (p.Ala117Ser) in TTR gene exon 4 was identified in the proband with typical autonomic neuropathy and peripheral motor neuropathy, as well as in his asymptomatic son. 28762097 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage.TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms.Phenotypic and genetic variability and non-disease-specific symptoms often delay diagnosis and lead to misdiagnosis. 29343286 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE The results suggest an association between presumed nonamyloidogenic mutations in the TTR gene and the development of AN and SFN.Muscle Nerve 57: 140-142, 2017. 28556268 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 Biomarker disease BEFREE Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. 27793437 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. 28991715 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR). 28539873 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 Biomarker disease BEFREE Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a highly disabling, life-threatening disease characterized by progressive sensorimotor and autonomic neuropathy. 26734951 2016
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 Biomarker disease BEFREE Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an axonal sensory-motor and autonomic neuropathy. 27072093 2016
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE Autonomic neuropathy is a major component of familial amyloid polyneuropathy (FAP) due to mutated transthyretin, with sudomotor failure as a common manifestation. 25973863 2015
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 Biomarker disease BEFREE Transthyretin familial amyloid polyneuropathy is a hereditary form of amyloidosis characterized by sensorimotor and autonomic neuropathy, cardiac conduction defects, and infiltrative cardiomyopathy. 23833285 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin (TTR) gene. 19493541 2009
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 Biomarker disease BEFREE The transthyretin (TTR) amyloidosis is an incurable fatal inherited disease that is characterized by progressive peripheral and autonomic neuropathy. 19065606 2009
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy. 18925459 2008
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE The highly amyloidogenic human TTR variant in which leucine at position 55 is replaced by proline (L55P TTR) is responsible for aggressive fatal amyloidosis with peripheral and autonomic neuropathy, cardiomyopathy and nephropathy. 17701470 2007
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE Familial amyloid polyneuropathy (FAP) type I is caused by a mutated transthyretin (TTR V30M) and characterized by a sensorimotor and autonomic neuropathy. 15496172 2004
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE We report a 40-year-old woman with a new transthyretin (TTR) variant, glutamine replacing leucine at residue 55 (Leu55Gln), who showed progressive somatic and autonomic neuropathy, glaucoma, and vitreous opacities. 12557757 2002
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation disease BEFREE Progressive peripheral and autonomic neuropathy are associated with neural and visceral deposition of amyloid, derived most commonly from the Met-30 variant of the plasma protein transthyretin. 8097803 1993
Entrez Id: 213
Gene Symbol: ALB
ALB
0.030 Biomarker disease BEFREE Glycated albumin and its variability as an indicator of cardiovascular autonomic neuropathy development in type 2 diabetic patients. 29017498 2017
Entrez Id: 213
Gene Symbol: ALB
ALB
0.030 Biomarker disease BEFREE The distribution of DR3 and DR4 risk alleles was not associated with cardiovascular autonomic neuropathy both in patients with normal albumin excretion rate and microalbuminuria (1.6 vs 2.1; p = 0.21). 27036319 2016
Entrez Id: 213
Gene Symbol: ALB
ALB
0.030 Biomarker disease BEFREE Autonomic neuropathy in nondiabetic offspring of type 2 diabetic subjects is associated with urinary albumin excretion rate and 24-h ambulatory blood pressure: the Fredericia Study. 11246884 2001
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.020 GeneticVariation disease BEFREE Autosomal recessive <i>KIF1A</i> missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. 29159194 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.020 GeneticVariation disease BEFREE Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2. 25265257 2015
Entrez Id: 4803
Gene Symbol: NGF
NGF
0.020 GeneticVariation disease BEFREE In this study we exploit forms of NGF, mutated at residue R100, inspired by the human genetic disease HSAN V (Hereditary Sensory Autonomic Neuropathy Type V), which would allow increasing the dose of NGF without triggering pain. 22666365 2012
Entrez Id: 4803
Gene Symbol: NGF
NGF
0.020 GeneticVariation disease BEFREE Taking pain out of NGF: a "painless" NGF mutant, linked to hereditary sensory autonomic neuropathy type V, with full neurotrophic activity. 21387003 2011
Entrez Id: 64858
Gene Symbol: DCLRE1B
DCLRE1B
0.010 Biomarker disease BEFREE The effect of the RNAi therapeutic, patisiran, on autonomic neuropathy manifestations in patients with hATTR amyloidosis with polyneuropathy in the phase III APOLLO study is reported. 31728713 2020