|
Global developmental delay
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.
|
30879640 |
2019 |
|
Global developmental delay
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.
|
30879640 |
2019 |
|
Foot Deformities
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
|
30879640 |
2019 |
|
Hand deformities
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
|
30879640 |
2019 |
|
Feeding difficulties
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
|
30879640 |
2019 |
|
Generalized hypotonia
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.
|
30879640 |
2019 |
|
AUTISM, SUSCEPTIBILITY TO, 15
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
|
30879640 |
2019 |
|
Intellectual Disability
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.
|
30879640 |
2019 |
|
Malignant neoplasm of breast
|
0.300 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Neoplasm of uncertain or unknown behavior of breast
|
0.300 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Breast Carcinoma
|
0.300 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Breast adenocarcinoma
|
0.300 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Hyperlipidemia
|
0.200 |
Biomarker
|
disease |
RGD |
Hyperlipidaemia impairs the circadian clock and physiological homeostasis of vascular smooth muscle cells via the suppression of Smarcd1.
|
24615205 |
2014 |
|
Hyperlipoproteinemias
|
0.200 |
Biomarker
|
disease |
RGD |
Hyperlipidaemia impairs the circadian clock and physiological homeostasis of vascular smooth muscle cells via the suppression of Smarcd1.
|
24615205 |
2014 |
|
Tendinopathy
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy.
|
28358823 |
2017 |
|
Neoplasms
|
0.040 |
AlteredExpression
|
group |
BEFREE |
Increased SMARCD1 expression predicted poor survival in HNSCC tumors harboring missense p53 mutations.
|
31637714 |
2020 |
|
Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
These results indicated that BAF57, BAF60a and SNF5 might act as novel pro-senescence factors in both normal and tumor human skin cells.
|
28716547 |
2017 |
|
Neoplasms
|
0.040 |
AlteredExpression
|
group |
BEFREE |
Benign, atypical proliferative serous tumors (borderline) and malignant serous tumors (n = 144) were laser-capture microdissected, and relative expression levels of miR-223 and SMARCD1 were quantified by RT-PCR.
|
29079174 |
2017 |
|
Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
MiR-490-3p plays a tumour suppressor role in epithelial ovarian cancer by targeting CDK1 regulation and influencing SMARCD1 and cyclin D1 (CCND1) expressions.
|
28598010 |
2017 |
|
Squamous cell carcinoma of the head and neck
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Increased SMARCD1 expression predicted poor survival in HNSCC tumors harboring missense p53 mutations.
|
31637714 |
2020 |
|
Developmental delay (disorder)
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.
|
30879640 |
2019 |
|
Acquired aplastic anemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Herein, gene expression analysis identified a significant loss of the SWI/SNF core component SMARCC1, along with ARID1B, ACTL6A, and SMARCD1, in human AA BM CD34<sup>+</sup> HSCs and hematopoietic stem and progenitor cells (HSPCs) compared with normal HSPCs.
|
29596882 |
2018 |
|
Serous cystadenoma, borderline malignancy
|
0.010 |
Biomarker
|
disease |
BEFREE |
miR-223 potentially targets SWI/SNF complex protein SMARCD1 in atypical proliferative serous tumor and high-grade ovarian serous carcinoma.
|
29079174 |
2017 |
|
Ovarian Serous Adenocarcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
miR-223 potentially targets SWI/SNF complex protein SMARCD1 in atypical proliferative serous tumor and high-grade ovarian serous carcinoma.
|
29079174 |
2017 |
|
Carcinoma, Ovarian Epithelial
|
0.010 |
Biomarker
|
disease |
BEFREE |
Therefore, we suggest that through interaction with miR-490-3p, DLEU1 may influence the expression of CDK1, CCND1 and SMARCD1 protein, subsequently promoting the development and progression of EOC.
|
28598010 |
2017 |