Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
|
28511835 |
2017 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea.
|
27061943 |
2016 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
|
25545163 |
2015 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
|
26537056 |
2015 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
|
24700542 |
2014 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
|
24700542 |
2014 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
|
24700542 |
2014 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
|
24700542 |
2014 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
|
22782511 |
2012 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
|
22782511 |
2012 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
|
22782511 |
2012 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
|
22782511 |
2012 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.
|
11310626 |
2001 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.
|
11310626 |
2001 |
Dyskinesia, Familial, with Facial Myokymia
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|