|
Abnormal aortic morphology
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Abnormal heart valve morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of the metacarpal bones
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the metaphysis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acromegaloid facial appearance syndrome
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
|
23307537 |
2013 |
|
Acute myocardial infarction
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here we explore the pathophysiological mechanism of a rare mutation (V734I) found in exon 17 of the ABCC9 gene, estimated to cause a 6.4-fold higher risk of AMI before the age of 60.
|
23739550 |
2013 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
Advanced bone age
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Alzheimer's Disease
|
0.050 |
Biomarker
|
disease |
BEFREE |
As to potential therapeutic intervention, the human pharmacopeia features both SUR2 agonists and antagonists, so ABCC9/SUR2 may provide a "druggable target", relevant perhaps to both HS-Aging and Alzheimer's disease.
|
26226329 |
2015 |
|
Alzheimer's Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
A post-hoc arterial spin labeling neuroimaging experiment indicated that ABCC9 genotype is associated with cerebral blood flow impairment; in a convenience sample from Alzheimer's Disease Neuroimaging Initiative (n = 15, homozygous individuals), non-risk genotype carriers showed higher global cerebral blood flow compared to risk genotype carriers.
|
26738751 |
2017 |
|
Alzheimer's Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Participants from the Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n = 1,239), with both MRI scans and genotype data, were used to assess the association between brain atrophy and previously identified HS-Aging risk SNPs in the following genes: GRN, TMEM106B, ABCC9, and KCNMB2 (minor allele frequency for each is >30%).
|
27003218 |
2016 |
|
Alzheimer's Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454).
|
28189700 |
2017 |
|
Alzheimer's Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
ABCC9 gene variants are associated with increased risk for hippocampal sclerosis of aging (HS-Aging--a prevalent brain disease with symptoms that mimic Alzheimer's disease).
|
26115089 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Also, the C/C genotype of the rs4148642 variant of ABCC8 and the T/C genotype of the rs148416760 variant of ABCC9 modified the progression rate in spinal ALS patients.
|
29492846 |
2018 |
|
Angina Pectoris, Variant
|
0.010 |
Biomarker
|
disease |
BEFREE |
The intermittent coronary artery vasospasm seen in Sur2(-/-) mice provides a model for the human disorder Prinzmetal variant angina and demonstrates that the SUR2 K(ATP) channel is a critical regulator of episodic vasomotor activity.
|
12122112 |
2002 |
|
Anteverted nostril
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Arteriolosclerosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Moderate or severe arteriolosclerosis pathology, throughout the brain, was associated with both hippocampal sclerosis of aging pathology and an ABCC9 gene variant.
|
26597697 |
2016 |
|
Arteriolosclerosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In the ≥ 80 years age at death group, an ABCC9 gene variant (rs704180), previously associated with aging-related hippocampal sclerosis, was also associated with brain arteriolosclerosis.
|
26738751 |
2017 |
|
Arthritis, Gouty
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.
|
22179738 |
2012 |
|
Asthma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Gene expression data demonstrate that ABC transporters are variably expressed in epithelial cells from different airway generations, regulated by cigarette smoke exposure (ABCA13, ABCB6, ABCC1, and ABCC3), and differentially expressed in individuals with COPD and asthma (ABCA13, ABCC1, ABCC2, ABCC9).
|
30655622 |
2019 |
|
Atrial Fibrillation
|
0.310 |
Biomarker
|
disease |
BEFREE |
KATP channelopathies implicated in patients with mechanical and/or electrical heart disease include dilated cardiomyopathy (with ventricular arrhythmia; CMD1O) and adrenergic atrial fibrillation.
|
20033705 |
2010 |
|
Atrial Fibrillation
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Short QT syndrome.
|
16301704 |
2005 |
|
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
|
0.300 |
GeneticVariation
|
disease |
ORPHANET |
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
|
17245405 |
2007 |
|
ATRIAL FIBRILLATION, FAMILIAL, 12
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
|
15034580 |
2004 |
|
ATRIAL FIBRILLATION, FAMILIAL, 12
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.
|
24439875 |
2014 |