|
Spastic Paraplegia 42, Autosomal Dominant
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.
|
25402622 |
2015 |
|
Spastic Paraplegia 42, Autosomal Dominant
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
|
19061983 |
2008 |
|
Spastic Paraplegia 42, Autosomal Dominant
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
|
19061983 |
2008 |
|
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
|
22243965 |
2012 |
|
Colorectal Carcinoma
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Epilepsies, Partial
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
|
30531953 |
2018 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Previous studies have shown that angiotensin II AT1 receptor gene (AT1R) polymorphisms are associated with the risk for hypertension.
|
25990648 |
2015 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The A1166C polymorphism of the AT1 receptor gene (AT1R/A1166C) is associated with hypertension in Caucasians, but not in Japanese.
|
15492474 |
2004 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We detected no association of the AT1 receptor polymorphism with hypertension, but a trend towards a decreased prevalence of the 1166C allele among hypertensive patients with a late age at diagnosis (> or = 50 years) was observed.
|
9431842 |
1997 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The first paper on the genetic role of the AT1 gene in human hypertension has just been published.
|
7743157 |
1995 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The present meta-analysis suggests that the AT(1) receptor 1166 AC/CC genotype is associated with susceptibility to hypertension in the Chinese population.
|
20223791 |
2010 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We have investigated whether the A1166C polymorphism of the angiotensin II type 1 (AT1) receptor gene modulates the effects of angiotensin II on collagen type I turnover and myocardial stiffness in hypertension.
|
14597852 |
2003 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Therefore, we conducted an association study between A1166C variants of the AT1 receptor gene and hypertension in the Japanese population.
|
12627871 |
2003 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
1.Using a nested case-control study of 661 non-institutionalized elderly (> or = 60 years) residents of Dubbo, New South Wales, Australia, the aim of this study is to determine whether the A1166C polymorphism of the angiotensin II type I (AT1) receptor gene is associated with hypertension in the elderly.2.
|
10405780 |
1999 |
|
Hypertensive disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
From the present data it is unlikely that any one of the nine newly characterized SNPs in the promoter region of AT1 gene is associated with arterial hypertension.
|
10726712 |
2000 |
|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
|
30275531 |
2018 |
|
mathematical ability
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
|
30038396 |
2018 |
|
Congestive heart failure
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Thus, sensitization of the heart failure-promoting AT1 receptor by the RKIP-GRK2 interaction contributes to heart failure whereas dominant-negative GRK2-K220R is cardioprotective.
|
30687708 |
2018 |
|
Essential Hypertension
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Functional polymorphisms that predispose to increased basal GRK4 activity both decrease dopamine receptor activity and increase angiotensin II type 1 (AT1) receptor activity and are associated with essential hypertension in a number of different human cohorts.
|
22407378 |
2012 |
|
Essential Hypertension
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
In 34 white patients with established mild to moderate essential hypertension (World Health Organization stage I or II, mean age 52 +/- 9 years) genotype analysis of GNB3 C825T polymorphism, insertion/deletion polymorphism of the ACE gene and 1166 A/C polymorphism of the AT1 receptor gene was performed.
|
10526907 |
1999 |
|
Essential Hypertension
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
We conducted a case-control study in a sample from the Japanese population to determine whether polymorphic markers in the 5'-flanking region of the AT 1 gene were associated with essential hypertension.
|
11246471 |
2000 |
|
Essential Hypertension
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Of the described polymorphisms in the AT1-receptor gene, the A1166C transversion is associated with human essential hypertension.
|
9717050 |
1998 |
|
Essential Hypertension
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Angiotensin II AT1 receptor gene polymorphism and microalbuminuria in essential hypertension.
|
11336183 |
2001 |
|
Essential Hypertension
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
It has been reported that a polymorphism of the AT1 receptor gene (an A/C transversion at position 1166; A1166C) may be associated with essential hypertension (HT).
|
12627871 |
2003 |
|
Essential Hypertension
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Correlation between HLA-DRB1, HLA-DQB1 polymorphism and autoantibodies against angiotensin AT(1) receptors in Chinese patients with essential hypertension.
|
21557256 |
2011 |