| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
T | 0.710 | CausalMutation | CLINVAR | Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early. | 24586341 | 2014 |
|||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. | 19453707 | 2009 |
|||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice. | 18483067 | 2008 |
|||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | Seizure characteristics in chromosome 20 benign familial neonatal convulsions. | 8327138 | 1993 |
|||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. | 9425895 | 1998 |
|||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. | 24375629 | 2014 |
|||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. | 9872318 | 1998 |
|||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. | 26138355 | 2016 |
|||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. | 14534157 | 2003 |
|||||||
|
|
A | 0.710 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.710 | GeneticVariation | CLINVAR | Homozygosity for MECP2 gene in a girl with classical Rett syndrome. | 17881312 | 2008 |
|||||||
|
|
A | 0.710 | GeneticVariation | CLINVAR | Genotype-phenotype correlation in Brazillian Rett syndrome patients. | 19722030 | 2009 |
|||||||
|
|
A | 0.710 | GeneticVariation | CLINVAR | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. | 20031356 | 2010 |
|||||||
|
|
A | 0.710 | GeneticVariation | CLINVAR | Chronic osteomyelitis in patients with sickle cell disease. | 10944834 | 2000 |
|||||||
|
|
A | 0.710 | GeneticVariation | CLINVAR | Prenatal diagnosis in Rett syndrome. | 12065946 | 2003 |
|||||||
|
|
A | 0.710 | GeneticVariation | CLINVAR | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. | 17089071 | 2007 |
|||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 |
|||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
CG | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR |