|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
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 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
|
18469813 |
2008 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
|
18469813 |
2008 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
|
18469813 |
2008 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
|
19214208 |
2009 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
|
19214208 |
2009 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
|
19752159 |
2010 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
|
19752159 |
2010 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
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 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
|
20713952 |
2010 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
|
20713952 |
2010 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
|
20830798 |
2010 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
|
20830798 |
2010 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
|
21053371 |
2011 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
|
21480887 |
2011 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
|
21480887 |
2011 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
|
21519002 |
2011 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our results suggest that deletions at PCDH19 also cause EFMR.
|
22091964 |
2012 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
|
22267240 |
2012 |
|
| Entrez Id: |
57526 |
| Gene Symbol: |
PCDH19 |
PCDH19
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
|
22848613 |
2012 |