Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | CausalMutation | disease | CLINVAR | Protocadherin 19 mutations in girls with infantile-onset epilepsy. | 20713952 | 2010 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. | 20830798 | 2010 | ||||
|
0.720 | GermlineCausalMutation | disease | ORPHANET | Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. | 19752159 | 2010 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. | 19214208 | 2009 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. | 19214208 | 2009 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. | 18469813 | 2008 | ||||
|
0.720 | GermlineCausalMutation | disease | ORPHANET | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. | 18469813 | 2008 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. | 18469813 | 2008 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation. | 2267240 | 1990 | ||||
|
0.720 | Biomarker | disease | CTD_human | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | Deletions of Tetraspanin 6 (Tspan6) gene, a member of the tetraspanin family, have been reported in patients with Epilepsy Female-restricted with Mental Retardation (EFMR). | 28207852 | 2017 |