CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.310 GeneticVariation disease BEFREE Our strategy, based on first applying several filters to ciliary variants and using many of the bioinformatics tools available, allowed us to identify causal mutations in BBS2, ALMS1 and CRB1 genes in four families, thus confirming the molecular diagnosis of ciliopathy. 28800606 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.310 Biomarker disease GENOMICS_ENGLAND