KCNJ11
HGNC:6257 · 27 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNJ11 | “KCNJ11 (p.Arg192Cys)-associated MODY13 with coexisting autoimmunity in a child, a case report.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “This study investigates the influence of genetic polymorphisms on renal outcomes in HFrEF patients treated with dapagliflozin, focusing on variations in genes such as SLC5A2, UMOD, KCNJ11, and ACE.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “RESULTS: Distinct gene mutations such as GCK, HNF1A, and HNF4A in MODY, and KCNJ11, ABCC8, and INS in NDM are associated with specific clinical characteristics and treatment responses.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Mutations in the KCNJ11 gene that encodes the Kir6.2 protein (a major constituent of KATP channels) were reported to be associated with Type 2 DM, neonatal diabetes mellitus (NDM), and maturity-onset diabetes of the young (MODY).” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Activating variants in KCNJ11 and ABCC8 were identified in four (10.81%) and two (5.41%) patients, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “TCF7L2, KCNQ1, and KCNJ11 genes are connected to the mechanism of β-cell dysfunction.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Whereas, glimepiride increases BDNF by binding to KCNJ11 via AP2M1 and ESR1 proteins.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Among these genes, HNF4A, PPARA, VEGFA, TCF7L2, HLA-DRB1, PPARG, NOS3, KCNJ11, PRKAA2, and HNF1A were mentioned in more than 200 articles.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Independent case-control study in KCNJ11 gene polymorphism with Type 2 diabetes Mellitus.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Mutations in the ABCC8 and KCNJ11 genes encoding KATP channels in beta cells of the pancreas are common among patients with CHI.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “A common source for developing NDM in an infant is the existence of mutations/variants in the KCNJ11 and ABCC8 genes, encoding the subunits of the voltage-dependent potassium channel.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “After the integration, we obtained 18 single nucleotide polymorphisms and found two statistically and clinically significant variants in two genes, SLC30A8 rs13266634 and KCNJ11 rs5219.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Association of Genetic Variants of KCNJ11 and KCNQ1 Genes with Risk of Type 2 Diabetes Mellitus (T2DM) in the Indian Population: A Case-Control Study.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Most had mutations in common genes (9 in KCNJ11 and 5 in ABCC8).” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Studies from Egypt, Iraq, Jordan, Oman, Qatar, Saudi Arabia, Tunisia, and United Arab Emirates had been explored studying the associations of GIPR, ADIPOQ, FTO, (GRCh38.p12), MLXIP, AKNAD1, KCNJ11 CDKAL1, CDKN2A/2B, TCF7L2, ACE, SNAP25, ELMO1, VDR, KCTD8, GABRA4 and PRKD1 genes with T2D development.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Hyperinsulinaemic hypoglycaemia (HH) is caused by mutations in the key genes involved in regulation of insulin secretion from the pancreatic β-cells and mutations in ABCC8 and KCNJ11 are the most common causes of HH.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Mutational analysis (ABCC8 and KCNJ11) was performed retrospectively to identify phenotype and genotype characteristics.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “KCNJ11 rs5219 was significantly associated in both the populations with a pooled OR of 1.176(1.092-1.268), p<0.0001 and I(2)=32.40% in Caucasians and a pooled OR of 1.28(1.111-1.475), p=0.001 among Arabs.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “OBJECTIVE: Mutations in the KCNJ11 and ABCC8 genes that encode the pancreatic K(ATP) channel are the commonest cause of permanent neonatal diabetes mellitus (PNDM).” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “The hyperinsulinism disease was caused by a novel homozygous mutation in the KCNJ11 gene, an arginine 301 to proline (R301P) substitution.PGD was achieved by whole genome amplification followed by mutation detection combined with short tandem repeat identifier analysis in the first cycle and with haplotyping in the second cycle.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Genetic abnormalities of chromosome 6 associated with transient neonatal diabetes as well as mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic potassium channel were also excluded as a cause of the NDM in this patient.” | 0.98 | hgnc_dict_v1 |
| gene | KCNJ11 | “Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes.” | 0.98 | hgnc_dict_v1 |