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KCNJ11 and renal failure are reported together in 2 articles.
Gene
KCNJ11
- HGNC
- HGNC:6257
27articles
27mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
diabetes mellitus 20developmental delay 3epilepsy 3renal failure 2intellectual disability 1obesity 1
Reported variants (articles · ClinVar status)
Phenotype
Renal failure
523articles
523mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
PMID 38675722 | PMCID PMC11054064 | DOI 10.3390/molecules29081904 · Molecules (Basel, Switzerland) · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| 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 |
| phenotype | renal failure | “DM has very serious complications such as blindness, kidney failure, and cardiovascular disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M199R | “Our results indicated that M199R, R201H, R206H, and Y330H mutations influence Kir6.2 structure and function and therefore may cause DM.” | 0.82 | literature_variant_regex_v2 |
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.
PMID 24421282 | DOI 10.1136/jmedgenet-2013-102085 · Journal of medical genetics · 2014 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNJ11 | “A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “We were able to map an apparently novel syndrome of congenital hyperinsulinism and severe rhabdomyolysis leading to acute renal failure to a single locus that harbours KCNJ11 in which we identified a novel homozygous mutation.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: Cross-sectional analysis of members of a large multiplex consanguineous family with congenital hyperinsulinism and rhabdomyolysis using autozygosity mapping and exome sequencing. RESULTS: Five affected members of an extended consanguineous Saudi family were recruited along with relevant unaffected relatives.” | 0.95 | saudi_context_rules_v1 |