|
Milroy Disease
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Family segregation studies were possible in four out of five probands and showed possible sex-specific differences: CELSR1 variants showed almost complete penetrance in females and were associated with early-onset lymphedema, whereas in males they showed incomplete penetrance and were associated with late onset of the condition.
|
31215153 |
2019 |
|
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
|
22095531 |
2012 |
|
Milroy Disease
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Milroy Disease
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
|
Schizophrenia
|
0.310 |
Biomarker
|
disease |
BEFREE |
We examined the gene encoding a member of the non-classic seven-pass transmembrane cadherins, CELSR1 for association with schizophrenia.
|
12782967 |
2003 |
|
Schizophrenia, Catatonic
|
0.310 |
Biomarker
|
disease |
BEFREE |
No variant exclusively co-segregates with the disease in the large pedigree, providing evidence that CELSR1 is not causative for the pathogenesis of catatonic schizophrenia in this family.
|
11807409 |
2001 |
|
Heart failure
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetics of heart rate in heart failure patients (GenHRate).
|
31113495 |
2019 |
|
heart rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetics of heart rate in heart failure patients (GenHRate).
|
31113495 |
2019 |
|
Reduced ejection fraction
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetics of heart rate in heart failure patients (GenHRate).
|
31113495 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.
|
28736931 |
2018 |
|
Malignant neoplasm of prostate
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study of prostate cancer in West African men.
|
24185611 |
2014 |
|
Neural Tube Defects
|
0.030 |
GeneticVariation
|
group |
BEFREE |
During the validation stage, the number of rare loss of function (LoF) variants in CELSR1 was significantly enriched in NTDs compared with the LoF counts in the ExAC database (p < 0.001).
|
29618362 |
2018 |
|
Spina Bifida
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Of the six NTD cases, three spina bifida cases and one anencephaly case carried digenic variants in the CELSR1 and SCRIB gene; one anencephaly case carried variants in the CELSR1 and DVL3 gene; and one spina bifida case carried variants in the PTK7 and SCRIB genes.
|
29573971 |
2018 |
|
Spina Bifida
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, we demonstrated patients with CELSR1 mutations and spina bifida can have significant renal malformations.
|
27597235 |
2016 |
|
Ischemic stroke
|
0.030 |
Biomarker
|
disease |
BEFREE |
Taken together, the present study has proven for the first time that CELSR1 is a susceptibility gene for IS in the Chinese Han population, especially for LAA.
|
25117632 |
2015 |
|
Spina Bifida
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that CELSR1 mutations contribute to the risk of spina bifida in a cohort of spina bifida patients from California.
|
24632739 |
2014 |
|
Neural Tube Defects
|
0.030 |
Biomarker
|
group |
BEFREE |
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
|
22095531 |
2012 |
|
Neural Tube Defects
|
0.030 |
GeneticVariation
|
group |
BEFREE |
We detected novel CELSR1 mutations predicted to be pathogenic in 2.9% of our NTD cohort and 3.3% of our caudal agenesis cohort.
|
22371354 |
2012 |
|
Ischemic stroke
|
0.030 |
Biomarker
|
disease |
BEFREE |
Our study independently confirmed for the first time the association between IS and CELSR1.
|
21511255 |
2011 |
|
Ischemic stroke
|
0.030 |
Biomarker
|
disease |
BEFREE |
CELSR1 is a susceptibility gene for ischemic stroke in Japanese individuals, although the functional relevance of the identified SNPs was not determined.
|
19403135 |
2009 |
|
Papillary craniopharyngioma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
PCP signalling disruption caused by Vangl2 (Vangl2<sup>Lp/+</sup>) or Celsr1 (Celsr1<sup>Crsh/+</sup>) mutations significantly reduced trabecular bone mass and distal tibial cortical thickness.
|
29463853 |
2018 |
|
Pneumocystis jiroveci pneumonia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
PCP signalling disruption caused by Vangl2 (Vangl2<sup>Lp/+</sup>) or Celsr1 (Celsr1<sup>Crsh/+</sup>) mutations significantly reduced trabecular bone mass and distal tibial cortical thickness.
|
29463853 |
2018 |
|
Papillary craniopharyngioma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Since horizontal semi-circular canal defects lead to circling in other mutant mouse lines, we propose that this PCP phenotype is the cellular basis of the circling behavior in Celsr1 mutants.
|
28159525 |
2017 |
|
Pneumocystis jiroveci pneumonia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Since horizontal semi-circular canal defects lead to circling in other mutant mouse lines, we propose that this PCP phenotype is the cellular basis of the circling behavior in Celsr1 mutants.
|
28159525 |
2017 |