|
Milroy Disease
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Milroy Disease
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
Cerebrovascular accident
|
0.010 |
GeneticVariation
|
group |
BEFREE |
rs6007897 and rs4044210 in CELSR1 were associated with stroke risk individually (OR[95%CI]=1.43[1.13-1.81], p=0.003 and 1.38[1.09-1.74], p=0.007, respectively), and in combination as a haplotype.
|
21511255 |
2011 |
|
Malignant neoplasm of prostate
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study of prostate cancer in West African men.
|
24185611 |
2014 |
|
Tumor Cell Invasion
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
By qPCR analysis, a panel of six genes, as well as CELSR1 alone (a potential invasion suppressor), differentiated PD and MD cases in LG and IG, but not in HG DCIS.
|
27250000 |
2016 |
|
Noninfiltrating Intraductal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
By qPCR analysis, a panel of six genes, as well as CELSR1 alone (a potential invasion suppressor), differentiated PD and MD cases in LG and IG, but not in HG DCIS.
|
27250000 |
2016 |
|
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 |
|
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 |
|
Tumor Cell Invasion
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Furthermore, GEP analysis revealed that non-nodal MCL cases were characterized by the down-modulation of the following gene categories: cell projection, actin cytoskeleton organization, cell adhesion (ITGAE, CELSR1, PCDH9) and tumour invasion/progression (PGF, ST14, ETS1, OCIAD1, EZR).
|
22150124 |
2012 |
|
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 |
|
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 |
|
Spina Bifida
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, we demonstrated patients with CELSR1 mutations and spina bifida can have significant renal malformations.
|
27597235 |
2016 |
|
Congenital Abnormality
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Interestingly, we demonstrated patients with CELSR1 mutations and spina bifida can have significant renal malformations.
|
27597235 |
2016 |
|
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, 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 |
|
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 |
|
Anencephaly
|
0.010 |
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 |
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 |
|
Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Of these, five loci showed highest methylation levels in HCC and lowest in control tissue (LOC55908, CELSR1, CRMP1, GNRH2, ALOX12 and ANGPTL7), whereas two loci showed the opposite direction of change (SPRR3 and TNFSF15).
|
21500188 |
2012 |