|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
Biomarker
|
disease |
CTD_human |
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
|
10334322 |
1999 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening.
|
22802590 |
2012 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
|
14764815 |
2004 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.
|
18988933 |
2008 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
|
21422196 |
2011 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.
|
24401662 |
2014 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
|
25201519 |
2014 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
|
23345197 |
2013 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
|
23345197 |
2013 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Clinical features of 52 neonates with hyperinsulinism.
|
10202168 |
1999 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.
|
17466004 |
2007 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
|
17575084 |
2007 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Congenital hyperinsulinism.
|
25323548 |
2014 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
|
10338089 |
1999 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan.
|
17236890 |
2007 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.
|
23067144 |
2013 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism.
|
18073294 |
2008 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Familial focal congenital hyperinsulinism.
|
20943779 |
2011 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels.
|
10720932 |
2000 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
|
9648840 |
1998 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
|
20799350 |
2010 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.
|
23652837 |
2013 |
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.
|
27682711 |
2016 |