ADRA2B, adrenoceptor alpha 2B, 151

N. diseases: 296; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1012841819
rs1012841819
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0020538
Disease:
Hypertensive disease
0.030 GeneticVariation BEFREE GRK4 is implicated in the regulation of blood pressure, and three GRK4 polymorphisms (R65L, A142V, and A486V) are associated with hypertension. 26134571 2015
dbSNP: rs1012841819
rs1012841819
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0020538
Disease:
Hypertensive disease
0.030 GeneticVariation BEFREE Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups. 20153824 2010
dbSNP: rs1012841819
rs1012841819
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0020538
Disease:
Hypertensive disease
0.030 GeneticVariation BEFREE A genetic model based on GRK4 R65L, GRK4 A142V, and GRK4 A486V was 94.4% predictive of SS hypertension, whereas the single-locus model with only GRK4 A142V was 78.4% predictive, and a 2-locus model of GRK4 A142V and CYP11B2 C-344T was 77.8% predictive of low-renin hypertension. 16439609 2006
dbSNP: rs1012841819
rs1012841819
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE Non-synonymous GRK4 variants, R65L, A142V and A486V, are associated with essential hypertension in diverse populations. 25732908 2016
dbSNP: rs1012841819
rs1012841819
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0085580
Disease:
Essential Hypertension
0.020 GeneticVariation BEFREE Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups. 20153824 2010
dbSNP: rs371217738
rs371217738
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Expression of Q366R DRD5 was sufficient to induce tumor cell apoptosis, consistent with a gain-of-function. 30559168 2019
dbSNP: rs371217738
rs371217738
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Whole exome sequencing of cancer cells with acquired resistance to ONC201 revealed a <i>de novo</i> Q366R mutation in the DRD5 gene. 30559168 2019
dbSNP: rs371217738
rs371217738
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Whole exome sequencing of cancer cells with acquired resistance to ONC201 revealed a <i>de novo</i> Q366R mutation in the DRD5 gene. 30559168 2019
dbSNP: rs28365031
rs28365031
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0042571
Disease:
Vertigo
0.010 GeneticVariation BEFREE Furthermore, the SNPs within ADRA1A [rs1048101 (T>C)], NPY [rs16476 (A>C), rs16148 (T>C)], as well as ADRB1 [rs28365031 (A>G)] all appeared to predict the prognosis of cervical vertigo in a relatively accurate way (all P < .05). 29197114 2018
dbSNP: rs370956755
rs370956755
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). 28763059 2017
dbSNP: rs370956755
rs370956755
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). 28763059 2017
dbSNP: rs765069734
rs765069734
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0238463
Disease:
Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE As a mutation hotspot, the c.713A>G/714T>C dinucleotide substitution was found among 89.1% patients with GAS8-AS1 mutations and associated with advanced PTC disease (P = 0.009). 26941397 2016
dbSNP: rs775888932
rs775888932
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0001206
Disease:
Acromegaly
0.010 GeneticVariation BEFREE We identified a recurrent GPR101 mutation (p.E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors. 25470569 2014
dbSNP: rs1440203097
rs1440203097
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0029456
Disease:
Osteoporosis
0.010 GeneticVariation BEFREE This is the first report that describes the association between the Leu46Pro polymorphism of the human P2Y(2) receptor and the risk of osteoporosis. 22773251 2013
dbSNP: rs767958027
rs767958027
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C1857451
Disease:
Acth-Independent Macronodular Adrenal Hyperplasia
0.010 GeneticVariation BEFREE Using whole exome sequencing and several variant prioritization strategies based on disease network analysis, we identified Endothelin receptor type A (EDNRA) Ser420Thr mutation as a causative mutation of AIMAH. 23754170 2013
dbSNP: rs767958027
rs767958027
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C1611743
Disease:
Familial (FPAH)
0.010 GeneticVariation BEFREE Our findings indicate that the mutation of EDNRA at S420T site should be regard as a potential AIMAH causative variation in familial and sporadic affected patients. 23754170 2013
dbSNP: rs1012841819
rs1012841819
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (rs1024323), and A486V (rs1801058), would be associated with blood pressure response to atenolol, but not hydrochlorothiazide, and would be associated with long-term cardiovascular outcomes (all-cause death, nonfatal myocardial infarction, nonfatal stroke) in participants treated with an atenolol-based versus verapamil-SR-based antihypertensive strategy. 22949529 2012
dbSNP: rs1012841819
rs1012841819
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0264657
Disease:
Renal sclerosis with hypertension
0.010 GeneticVariation BEFREE Results suggest a sex-specific relationship between GRK4 A142V and blood pressure response among African-American men with early hypertensive nephrosclerosis. 19119263 2009
dbSNP: rs1442511697
rs1442511697
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE Next, the neuroblastoma cells were transfected with the wild type GRK2 or its dominant negative mutant GRK2-K220R and the inhibition on cAMP level was determined in naïve and agonist-pretreated cells. 18395423 2008
dbSNP: rs1442511697
rs1442511697
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE Next, the neuroblastoma cells were transfected with the wild type GRK2 or its dominant negative mutant GRK2-K220R and the inhibition on cAMP level was determined in naïve and agonist-pretreated cells. 18395423 2008
dbSNP: rs1442511697
rs1442511697
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE Next, the neuroblastoma cells were transfected with the wild type GRK2 or its dominant negative mutant GRK2-K220R and the inhibition on cAMP level was determined in naïve and agonist-pretreated cells. 18395423 2008