Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
0.520 GeneticVariation group BEFREE Assessment of the variants detected by mapped sequencing reads followed by Sanger confirmation revealed that the proband is a compound heterozygote for rare variants within RETREG1 (FAM134B), a gene associated with a recessive form of hereditary sensory and autonomic neuropathy, but not with epileptic encephalopathy or global developmental delay. 31475481 2019
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
0.520 GeneticVariation group BEFREE Mutations in FAM134B associated with hereditary sensory and autonomic neuropathy type IIB (HSAN IIB). 29226326 2018
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
0.520 Biomarker group GENOMICS_ENGLAND Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. 24327336 2014
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
0.520 Biomarker group GENOMICS_ENGLAND Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
0.520 Biomarker group CTD_human Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 19838196 2009
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.360 GeneticVariation group BEFREE A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency. 27277422 2016
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.360 GeneticVariation group BEFREE We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. 25678562 2015
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.360 GeneticVariation group BEFREE Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. 25033457 2014
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.360 GeneticVariation group BEFREE We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). 24727570 2014
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.360 GeneticVariation group BEFREE Our findings suggest that mutation in exon 21 of DNMT1 may also produce a HSAN phenotype. 23521649 2013
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.360 Biomarker group CTD_human Here we show that mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy with dementia and hearing loss. 21532572 2011
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.360 GeneticVariation group BEFREE Here we show that mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy with dementia and hearing loss. 21532572 2011
Entrez Id: 4803
Gene Symbol: NGF
NGF
0.330 Biomarker group BEFREE HSAN type 4 (HSAN-4) and type 5 (HSAN-5) are characterized by insensitivity to pain and thermal sensation. 26562335 2016
Entrez Id: 4803
Gene Symbol: NGF
NGF
0.330 Biomarker group BEFREE So far, mutations in 12 genes coding for different proteins have been reported in association with HSAN and the molecular pathogenesis has been elucidated in HSAN1a, HSAN4 and HSAN5. 26232991 2015
Entrez Id: 4803
Gene Symbol: NGF
NGF
0.330 Biomarker group BEFREE Pain insensitivity in humans can be attributed to hereditary sensory and autonomic neuropathies (HSAN) of which there are five classes (HSAN I - HSAN V). 19183217 2009
Entrez Id: 4803
Gene Symbol: NGF
NGF
0.330 Biomarker group CTD_human
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.310 GeneticVariation group LHGDN Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. 16373086 2006
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.310 Biomarker group CTD_human
Entrez Id: 667
Gene Symbol: DST
DST
0.060 GeneticVariation group BEFREE The human disease resulting from dystonin loss-of-function, known as hereditary sensory and autonomic neuropathy type VI (HSAN-VI), has also been associated with gastrointestinal (GI) symptoms including chronic diarrhea and abdominal pain. 31814231 2020
Entrez Id: 667
Gene Symbol: DST
DST
0.060 GeneticVariation group BEFREE Here, we report novel biallelic mutations in the DST gene encoding dystonin, a large cytolinker protein of the plakin family, in an adult form of HSAN type VI. 30371979 2019
Entrez Id: 667
Gene Symbol: DST
DST
0.060 GeneticVariation group BEFREE Dystonia musculorum (dt) mice, which have a mutation in the Dystonin (Dst) gene, are used as animal models to investigate the human disease known as hereditary sensory and autonomic neuropathy type VI. 29061384 2018
Entrez Id: 667
Gene Symbol: DST
DST
0.060 Biomarker group BEFREE Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. 29982604 2018
Entrez Id: 667
Gene Symbol: DST
DST
0.060 Biomarker group BEFREE The aim of this review is to provide an overview of and highlight some recent findings on the expression and function of BPAG1 in muscles, which can assist future studies designed to delineate the role and regulation of BPAG1 in the dt mouse phenotype and in human hereditary sensory and autonomic neuropathy type 6 (HSAN6). 28736206 2017
Entrez Id: 667
Gene Symbol: DST
DST
0.060 GeneticVariation group BEFREE A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous pemphigoid antigen 1 (BPAG1)/dystonin gene (DST). 24381311 2014
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
0.050 GeneticVariation group BEFREE Our study firstly revealed that the coexistence of a novel WNK1 nonsense variant and a CNV resulted in HSAN type IIA in a Han Chinese family. 31132985 2019