|
Dyggve-Melchior-Clausen syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
AlteredExpression
|
disease |
BEFREE |
Verteporfin improved the SMC phenotype (proliferative markers and SMC marker expression), in part by reducing BDNF.
|
30121256 |
2018 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
Biomarker
|
disease |
BEFREE |
In vitro, Klotho has been shown to decrease oxidative stress and apoptosis in both SMCs and ECs, to reduce SMC calcification, to maintain the contractile SMC phenotype, and to prevent μ-calpain overactivation in ECs.
|
27693241 |
2017 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
AlteredExpression
|
disease |
BEFREE |
Increased immunostaining of the contractile SMC-phenotype markers and concomitant decreased expression of synthetic SMC-phenotype markers were observed in the aortae of SMC-Notch1+/-;Apoe-/- mice.
|
28562688 |
2017 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
AlteredExpression
|
disease |
BEFREE |
Platelet-derived growth factor-BB induces Olfm2 expression in primary SMCs while modulating SMC phenotype as shown by the downregulation of SMC marker proteins.
|
28062493 |
2017 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
GeneticVariation
|
disease |
UNIPROT |
Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene.
|
19005420 |
2009 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
GeneticVariation
|
disease |
UNIPROT |
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
|
18996921 |
2009 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
We studied three consanguineous families from Turkey, Lebanon, and Georgia, one with SMC and two with DMC and identified different homozygous DYM mutations (IVS3 194-1G > A, 938_942delTGTCT) in the DMC families.
|
16470731 |
2006 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
|
16097008 |
2005 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
GeneticVariation
|
disease |
UNIPROT |
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
|
12491225 |
2003 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
SMITH-MCCORT DYSPLASIA 1
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Schizophrenia
|
0.320 |
Biomarker
|
disease |
BEFREE |
Although the symptoms of schizophrenia and related psychoses are known to affect decision-making capacity for treatment (DMC-T), we know little about their effect on DMC-R.AimsWe aimed to determine if DMC-R differs from DMC-T in proportion and associated symptoms in an in-patient sample of people with schizophrenia and related psychoses.
|
29909778 |
2018 |
|
Schizophrenia
|
0.320 |
Biomarker
|
disease |
PSYGENET |
A three-step case-control study of total of 2105 Japanese cases of schizophrenia and 2087 Japanese control subjects was carried out for tag single-nucleotide polymorphisms (SNPs) in the DYM gene and an association between an SNP, rs833497, and schizophrenia was identified (allelic P=2 × 10(-5), in the total sample).
|
20555340 |
2010 |
|
Schizophrenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
A three-step case-control study of total of 2105 Japanese cases of schizophrenia and 2087 Japanese control subjects was carried out for tag single-nucleotide polymorphisms (SNPs) in the DYM gene and an association between an SNP, rs833497, and schizophrenia was identified (allelic P=2 × 10(-5), in the total sample).
|
20555340 |
2010 |
|
Disproportionate short stature
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
|
X-linked Dyggve-Melchior-Clausen syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Intellectual Disability
|
0.130 |
Biomarker
|
group |
BEFREE |
The difference rests on the presence or absence of intellectual disability, that is, intellectual disability in DMC and normal cognition in SMC.
|
28127940 |
2017 |
|
Intellectual Disability
|
0.130 |
Biomarker
|
group |
BEFREE |
Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.
|
25652408 |
2015 |
|
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
|
15726110 |
2005 |
|
Intellectual Disability
|
0.130 |
Biomarker
|
group |
HPO |
|
|
|
|
Microcephaly
|
0.110 |
Biomarker
|
disease |
BEFREE |
We used Dymeclin-deficient mice to determine the cause of microcephaly and to identify defective mechanisms at the cellular level.
|
25652408 |
2015 |
|
Osteochondrodysplasias
|
0.110 |
GeneticVariation
|
group |
LHGDN |
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
|
12491225 |
2003 |