PNCK, pregnancy up-regulated nonubiquitous CaM kinase, 139728
N. diseases: 3; N. variants: 3
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. | 25861866 | 2015 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. | 23660394 | 2013 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. | 24123876 | 2013 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Diagnostic exome sequencing in persons with severe intellectual disability. | 23033978 | 2012 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. | 17465020 | 2007 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. | 17101918 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | High prevalence of SLC6A8 deficiency in X-linked mental retardation. | 15154114 | 2004 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. | 11898126 | 2002 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. | 12210795 | 2002 | |||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR |