rs121908332, KCNK9

N. diseases: 5
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Birk-Barel Mental Retardation Dysmorphism Syndrome
CUI: C2676770
Disease: Birk-Barel Mental Retardation Dysmorphism Syndrome
0.820 GeneticVariation BEFREE Our case suggests that Birk Barel syndrome may not be caused only by variants leading to amino-acid exchange p.Gly236Arg but also by other missense variant in this gene and that peripheral motor neuropathy might be a feature of this syndrome. 30690205 2020
Birk-Barel Mental Retardation Dysmorphism Syndrome
CUI: C2676770
Disease: Birk-Barel Mental Retardation Dysmorphism Syndrome
0.820 GeneticVariation BEFREE TASK3 channels are genetically imprinted, and a mutation in TASK3 (G236R) is responsible for Birk Barel mental retardation dysmorphism syndrome, a maternally transmitted developmental disorder. 24342771 2014
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
0.010 GeneticVariation BEFREE Our case suggests that Birk Barel syndrome may not be caused only by variants leading to amino-acid exchange p.Gly236Arg but also by other missense variant in this gene and that peripheral motor neuropathy might be a feature of this syndrome. 30690205 2020
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.010 GeneticVariation BEFREE Exome sequencing in four new patients with developmental delay and central hypotonia revealed de novo G236R mutations. 27151206 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.010 GeneticVariation BEFREE Exome sequencing in four new patients with developmental delay and central hypotonia revealed de novo G236R mutations. 27151206 2016
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
0.010 GeneticVariation BEFREE TASK3 channels are genetically imprinted, and a mutation in TASK3 (G236R) is responsible for Birk Barel mental retardation dysmorphism syndrome, a maternally transmitted developmental disorder. 24342771 2014