Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Sensory and Autonomic Neuropathies
0.030 GeneticVariation group BEFREE Mutations in FAM134B associated with hereditary sensory and autonomic neuropathy type IIB (HSAN IIB). 29226326 2018
Hereditary Sensory and Autonomic Neuropathies
0.030 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
Hereditary Sensory and Autonomic Neuropathies
0.030 GeneticVariation group BEFREE Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. 23931820 2013
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity
0.010 Biomarker disease BEFREE The condition is probably genetically heterogeneous, and other congenital insensitivity to pain and HSAN genes such as SCN11A may be implicated. 29949203 2018
CUI: C0003477
Disease: Separation Anxiety Disorder
Separation Anxiety Disorder
0.010 Biomarker disease BEFREE Cohesion deficiency was induced by knockdown of the acetyltransferase separation anxiety (San)/Naa50, a cohesin complex stabilizer [9-12]. 30122528 2018
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 GeneticVariation disease BEFREE Detection of Acute Myocardial Infarction in a Pig Model Using the SAN-Atrial-AVN-His (SAAH) Electrocardiogram (ECG), Model PHS-A10, an Automated and Integrated Signals Recognition System. 29502127 2018
Indifference to Pain, Congenital, Autosomal Recessive
0.010 Biomarker disease BEFREE The condition is probably genetically heterogeneous, and other congenital insensitivity to pain and HSAN genes such as SCN11A may be implicated. 29949203 2018
CUI: C0003028
Disease: Anhidrosis
Anhidrosis
0.010 Biomarker disease BEFREE Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. 28328124 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 Biomarker disease BEFREE However, the effects of SAN on NSCLC proliferation, invasion, and migration and the mechanisms remain to be clarified. 28296008 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 Biomarker group BEFREE Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. 28328124 2017
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome
0.010 Biomarker disease BEFREE N-Terminal acetylome analyses revealed a decreased acetylation of a subset of NatA and NatE substrates in Ogden syndrome cells, supporting the genetic findings and our hypothesis regarding reduced Nt-acetylation of a subset of NatA/NatE-type substrates as one etiology for Ogden syndrome. 25489052 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.010 GeneticVariation disease 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
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
0.010 Biomarker disease BEFREE Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. 24727570 2014
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.010 GeneticVariation disease BEFREE Other common symptoms and features observed in our cases, involving the central and peripheral nervous system, include deafness, optic neuropathy-previously not reported in HSAN IE-large and small fibres polyneuropathy and lower limbs oedema. 24727570 2014
CUI: C0497327
Disease: Dementia
Dementia
0.010 GeneticVariation disease 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
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
0.010 Biomarker disease BEFREE HSAN IE and ADCA-DN are two extreme phenotypic manifestations of a DNMT1 methylopathy. 24727570 2014
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.010 GeneticVariation group BEFREE Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. 23931820 2013
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder)
0.010 Biomarker disease BEFREE In wild-type mice, Ang II infusion caused sinoatrial nodal (SAN) cell oxidation by activating NADPH oxidase, leading to increased ox-CaMKII, SAN cell apoptosis, and SND. p47-/- mice lacking functional NADPH oxidase and mice with myocardial or SAN-targeted CaMKII inhibition were highly resistant to SAN apoptosis and SND, suggesting that ox-CaMKII-triggered SAN cell death contributed to SND. 21785215 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE In the c-myc transgenic mice, which is a model of inducible hepatocarcinoma, we found that hNAT5/hNAT3 was upregulated when the tumour was induced. 18794801 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 Biomarker disease BEFREE The cells have the cell surface phenotype typical of N-myc amplified NB (HLA-A,B,C negative and HSAN 1.2 positive), and similar to other NB cell lines, N-myc RNA and protein are expressed. 2284101 1990
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 Biomarker disease BEFREE The cells have the cell surface phenotype typical of N-myc amplified NB (HLA-A,B,C negative and HSAN 1.2 positive), and similar to other NB cell lines, N-myc RNA and protein are expressed. 2284101 1990
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 Biomarker disease BEFREE The cells have the cell surface phenotype typical of N-myc amplified NB (HLA-A,B,C negative and HSAN 1.2 positive), and similar to other NB cell lines, N-myc RNA and protein are expressed. 2284101 1990
CUI: C0242225
Disease: Color blindness
Color blindness
0.010 Biomarker disease BEFREE No correspondence was found between these data and linguistic affinities of eight Bantu-speaking groups, nor between the frequencies of colorblindness and previously estimated proportions of San genes in these eight populations; on the other hand, a north-south cline of increasing frequences of mutants and of dichromacies among the Bantu-speakers was noted. 6970528 1980