CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Hereditary retinal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker group MGD A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. 17234588 2007
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker group MGD CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. 12915475 2003