CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
Disease: Pigmented Paravenous Chorioretinal Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. 21484995 2011
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 Biomarker disease BEFREE Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (e.g., RP12), RP with Coats-like exudative vasculopathy, and pigmented paravenous retinochoroidal atrophy. 17234588 2007
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 GermlineCausalMutation disease ORPHANET A novel, dominant Val162Met mutation within the fourth EGF-like domain of CRB1 cosegregates with the PPCRA phenotype. 15623792 2005
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 GeneticVariation disease UNIPROT A novel, dominant Val162Met mutation within the fourth EGF-like domain of CRB1 cosegregates with the PPCRA phenotype. 15623792 2005
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 GeneticVariation disease BEFREE A novel, dominant Val162Met mutation within the fourth EGF-like domain of CRB1 cosegregates with the PPCRA phenotype. 15623792 2005
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 Biomarker disease CTD_human
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.720 CausalMutation disease CLINVAR