Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
WES identified a novel de novo mutation (p.Gly268Arg) in ACTB (Baraitser-Winter syndrome-1), a homozygous stop mutation (p.R2442*) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).
|
29388391 |
2018 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.
|
29788902 |
2018 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1.
|
27633570 |
2016 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
|
25052316 |
2015 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
|
16685646 |
2006 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
|
10411937 |
1999 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
|
10411937 |
1999 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A chloroplast gene encoding a protein with one zinc finger.
|
2505231 |
1989 |
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Juvenile-onset dystonia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.
|
29788902 |
2018 |
Juvenile-onset dystonia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
|
16685646 |
2006 |
Juvenile-onset dystonia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
|
16685646 |
2006 |
Juvenile-onset dystonia
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
|
16685646 |
2006 |
Juvenile-onset dystonia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.
|
12325076 |
2002 |
Juvenile-onset dystonia
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Juvenile-onset dystonia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Juvenile-onset dystonia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Chemical and Drug Induced Liver Injury
|
0.500 |
Biomarker
|
disease |
CTD_human |
Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model.
|
25231249 |
2015 |
Chemical and Drug Induced Liver Injury
|
0.500 |
Biomarker
|
disease |
RGD |
Reference genes for real-time PCR quantification of microRNAs and messenger RNAs in rat models of hepatotoxicity.
|
22563491 |
2012 |