NBEAL1, neurobeachin like 1, 65065

N. diseases: 60; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency
0.010 Biomarker disease BEFREE Characterization of a variant prekallikrein, prekallikrein Long Beach, from a family with mixed cross-reacting material-positive and cross-reacting material-negative prekallikrein deficiency. 3487556 1986
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.010 Biomarker disease BEFREE Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site. 3965513 1985
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE The author summarizes the American Association for Geriatric Psychiatry Senior Investigator Award presentation delivered at the 13th Annual Meeting March 12-15, 2000, in Miami Beach, Florida, and reviews his research studies that define a trajectory leading to investigations of early detection and prevention of Alzheimer's disease (AD). 11069266 2000
CUI: C0153252
Disease: Systemic candidiasis
Systemic candidiasis
0.010 Biomarker disease BEFREE To assess the clinical utility of an enzyme-linked immunosorbent assay method for the quantitative detection of Candida species antigen (Candigen; Biomerica Inc, Newport Beach, Calif) in patients with suspected disseminated candidiasis. 11231480 2001
CUI: C0017638
Disease: Glioma
Glioma
0.010 AlteredExpression disease LHGDN Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. 15193433 2004
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea
0.010 GeneticVariation phenotype BEFREE The full or nearly complete coding region of all 11 genes for 3 G1P[8] (LB2719, LB2758, and LB2771) and 3 G2P[4] (LB2744, LB2764, and LB2772) strains isolated from children hospitalized with severe diarrhea in Long Beach, California, where these strains were circulating at comparable rates during 2005-2006 are described in this study. 21264876 2011
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.100 GeneticVariation phenotype GWASDB GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. 21862451 2011
CUI: C0162701
Disease: Polysomnography
Polysomnography
0.100 GeneticVariation phenotype GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
MRSA - Methicillin resistant Staphylococcus aureus infection
0.010 Biomarker disease BEFREE Human-associated methicillin-resistant Staphylococcus aureus from a subtropical recreational marine beach. 23553001 2013
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
0.010 GeneticVariation disease BEFREE Mutations in the large BEACH domain-containing protein LYST causes Chediak-Higashi syndrome. 25216107 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation group BEFREE The use of river beach for recreational purposes causes cancer risk (4.48 × 10<sup>-6</sup>) higher than USEPA limit, mainly due to the arsenic exposure. 26932559 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation group BEFREE The use of river beach for recreational purposes causes cancer risk (4.48 × 10<sup>-6</sup>) higher than USEPA limit, mainly due to the arsenic exposure. 26932559 2017
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.010 Biomarker disease BEFREE 2: CARF and NBEAL1; the latter is a region with high linkage disequilibrium) nearest to these SNPs has previously been associated with AN or obesity. 27184124 2017
CUI: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE 2: CARF and NBEAL1; the latter is a region with high linkage disequilibrium) nearest to these SNPs has previously been associated with AN or obesity. 27184124 2017
CUI: C0011127
Disease: Pressure Ulcer
Pressure Ulcer
0.010 GeneticVariation disease BEFREE When comparing differences between bands, there were no differences in the beach chair position, but the risk was lower for the posterior band in the lateral decubitus position (p < 0.001). 27299449 2017
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use
0.010 Biomarker disease BEFREE This study addresses replication in candidate gene × environment interaction (cG×E) research by investigating if the key findings from Brody, Beach, Philibert, Chen, and Murry (2009) can be detected using data (N = 1,809) from the PROSPER substance use preventive intervention delivery system. 27861757 2017
CUI: C1285498
Disease: Vegetation
Vegetation
0.020 Biomarker disease BEFREE We quantified the proximity of turtle nests (and surrounding beach locations) to urban areas, measured their exposure to artificial light, and used ultra-high resolution (cm-scale) digital surface models derived from Structure-from-Motion (SfM) algorithms, to characterise geomorphic and vegetation features of beaches on the Sunshine Coast, eastern Australia. 28070454 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 GeneticVariation phenotype BEFREE The purpose of this study was to translate the Beach Centre FQOL Scale (BCFQOL) into Mandarin Chinese and to examine the psychometric properties of the scale in families of children with DD. 28090700 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 GeneticVariation disease BEFREE The purpose of this study was to translate the Beach Centre FQOL Scale (BCFQOL) into Mandarin Chinese and to examine the psychometric properties of the scale in families of children with DD. 28090700 2017
CUI: C0205204
Disease: Scab
Scab
0.010 Biomarker disease BEFREE A fragment of continental crust has been postulated to underlie the young plume-related lavas of the Indian Ocean island of Mauritius based on the recovery of Proterozoic zircons from basaltic beach sands. 28140395 2017
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections
0.010 GeneticVariation group BEFREE 23S rRNA (ENT 23S), and three enteric viruses (human adenovirus serotypes 40/41 [HAdV 40/41], human norovirus [HNoV], and human enterovirus [EV]) in beach water samples seeded with raw and secondary-treated wastewater. 28159789 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 GeneticVariation phenotype BEFREE Among the six MST markers tested, HF183 was the most sensitive measure of human fecal pollution and was quantifiable up to dilutions of 10<sup>-6</sup> and 10<sup>-4</sup> for beach water samples seeded with raw and secondary-treated wastewater, respectively. 28159789 2017
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
0.080 Biomarker disease BEFREE We show that winter wave energy equalled or exceeded measured historical maxima across the US West Coast, corresponding to anomalously large beach erosion across the region. 28195580 2017
CUI: C3887524
Disease: Skin Erosion
Skin Erosion
0.080 Biomarker disease BEFREE We show that winter wave energy equalled or exceeded measured historical maxima across the US West Coast, corresponding to anomalously large beach erosion across the region. 28195580 2017
CUI: C0815107
Disease: psychological distress
psychological distress
0.010 Biomarker disease BEFREE People (n = 26) with indications of psychological distress were exposed to green (Collserola Natural Park), blue (Castelldefels beach) and urban (Eixample neighbourhood) environments in Catalonia. 28248974 2017