|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Eosinophils in hereditary and inflammatory myopathies.
|
24803842 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
|
23606453 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
As ANO5 has also been found to be mutated in two different forms of muscular dystrophy, the finding of this third mutation in GDD adds clues to the role of ANO5 in these disorders.
|
23047743 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
ANO5-muscular dystrophy: clinical, pathological and molecular findings.
|
23663589 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
|
23041008 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
|
23607914 |
2013 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
|
22742934 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
|
22499103 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
|
22402862 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
|
22499103 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
|
22402862 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
|
22980763 |
2012 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
|
22194990 |
2011 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
|
21186264 |
2011 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
|
21186264 |
2011 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
|
21739273 |
2011 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia.
|
20096397 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gnathodiaphyseal dysplasia is a rare autonomic dominant syndrome due to a mutation of the TMEM16E gene.
|
20005074 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia.
|
20096397 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia.
|
20096397 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia.
|
20096397 |
2010 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito.
|
15124103 |
2004 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito.
|
15124103 |
2004 |
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Osteogenesis imperfecta, Levin type
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|