Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 Biomarker group BEFREE Our findings implicate CELSR1 as a risk factor for NTDs or caudal agenesis and provide additional evidence for a pathogenic role of PCP signaling in these malformations. 22371354 2012
CUI: C0080178
Disease: Spina Bifida
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
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.030 Biomarker disease BEFREE Our study independently confirmed for the first time the association between IS and CELSR1. 21511255 2011
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.010 GeneticVariation disease BEFREE PCP rare putative mutations had a weaker role in myelomeningocele (SB), being found in approximately 6% of cases and cumulated across CELSR1, FUZ, FZD6, PRICKLE1, VANGL1, and VANGL2. 23024041 2012
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms 		0.010 Biomarker group BEFREE PTK7 and SEMA6A were expressed in undifferentiated embryonic stem (ES) cells, SEMA6A in endodermal progenitors, CELSR1, VANGL1 and PTK7 in gastrointestinal tumors. 17671748 2007
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.020 GeneticVariation disease BEFREE Rare putative mutations in the PCP genes VANGL2, SCRIB, DACT1, and CELSR1 cumulatively contributed to over 20% of cases with craniorachischisis, a rare defect; no contributing variants were found for PRICKLE1 or PTK7. 23024041 2012
CUI: C0431128
Disease: Papillary craniopharyngioma
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
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
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
CUI: C3668948
Disease: Circling behavior
Circling behavior 		0.010 Biomarker phenotype 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
CUI: C0948008
Disease: Ischemic stroke
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
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 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
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.010 GeneticVariation disease BEFREE The mutant cortex has a reduced number of neurons, and Celsr1 mutant mice exhibit microcephaly and behavioral abnormalities. 29257130 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 GeneticVariation phenotype BEFREE The mutant cortex has a reduced number of neurons, and Celsr1 mutant mice exhibit microcephaly and behavioral abnormalities. 29257130 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 GeneticVariation disease BEFREE This SNP-by-sex genome-wide association analysis identified the fetal lung development gene, CELSR1, as a potential sex-specific risk factor for COPD. 27854507 2017
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.020 GeneticVariation disease BEFREE We conclude that missense variants in CELSR1 and SCRIB may represent a cause of CRN in humans, as in mice, with defective PCP protein trafficking to the plasma membrane a likely pathogenic mechanism. 22095531 2012
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0036341
Disease: Schizophrenia
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
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 GeneticVariation disease BEFREE We sequenced the coding region and the exon-intron junctions of CELSR1 in a cohort of 473 patients affected with various forms of open and closed NTDs (412) or caudal agenesis (61). 22371354 2012
CUI: C0231706
Disease: Circling gait
Circling gait 		0.010 Biomarker phenotype BEFREE We show that mice lacking Celsr1 have vestibular behavioral phenotypes including circling. 28159525 2017