rs80356624, KCNJ11

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation BEFREE Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report. 23434183 2013
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.030 GeneticVariation BEFREE We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H. 16670688 2006
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.030 GeneticVariation BEFREE Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet. 19345438 2009
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.030 GeneticVariation BEFREE This is consistent with the ability of the R201H mutation to cause neonatal diabetes in patients. 17065345 2006
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE All 11 probands with the most common mutation, R201H, had isolated diabetes. 16609879 2006
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.020 GeneticVariation BEFREE Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia. 16670688 2006
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE All 11 probands with the most common mutation, R201H, had isolated diabetes. 16609879 2006
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.020 GeneticVariation BEFREE Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). 16087682 2005
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.020 GeneticVariation BEFREE Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). 16087682 2005
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.020 GeneticVariation BEFREE Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia. 16670688 2006
Paresis
CUI: C0030552
Disease: Paresis
0.020 GeneticVariation BEFREE Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). 16087682 2005
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.020 GeneticVariation BEFREE The R201H mutation was identified in a patient who developed hyperglycemia and ketoacidosis at the age of 40 d and was successfully transferred to sulphonylureas which activate the channel through an ATP independent route. 21352428 2011
Paresis
CUI: C0030552
Disease: Paresis
0.020 GeneticVariation BEFREE Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia. 16670688 2006
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE Nineteen children carrying KCNJ11 mutations associated with isolated diabetes (R201H; n = 8), diabetes with neurodevelopmental impairment (V59M or V59A [V59M/A]; n = 8), or diabetes not consistently associated with neurodevelopmental disability (Y330C, E322K, or R201C; n = 3) were studied using the age-standardized Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI). 22855734 2012
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.020 GeneticVariation BEFREE Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia. 16670688 2006
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.020 GeneticVariation BEFREE Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). 16087682 2005
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE Nineteen children carrying KCNJ11 mutations associated with isolated diabetes (R201H; n = 8), diabetes with neurodevelopmental impairment (V59M or V59A [V59M/A]; n = 8), or diabetes not consistently associated with neurodevelopmental disability (Y330C, E322K, or R201C; n = 3) were studied using the age-standardized Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI). 22855734 2012
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.020 GeneticVariation BEFREE Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia. 16670688 2006
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
0.010 GeneticVariation BEFREE Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet. 19345438 2009
Diabetic Neuropathies
CUI: C0011882
Disease: Diabetic Neuropathies
0.010 GeneticVariation BEFREE Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia. 16670688 2006
Ketosis
CUI: C0022638
Disease: Ketosis
0.010 GeneticVariation BEFREE The R201H mutation was identified in a patient who developed hyperglycemia and ketoacidosis at the age of 40 d and was successfully transferred to sulphonylureas which activate the channel through an ATP independent route. 21352428 2011
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). 16087682 2005
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
0.810 CausalMutation CLINVAR
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
0.810 CausalMutation CLINVAR
Neonatal insulin-dependent diabetes mellitus
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
0.700 CausalMutation CLINVAR