LAMA1, laminin subunit alpha 1, 284217

N. diseases: 107; N. variants: 21
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.120 GeneticVariation group BEFREE In this paper we describe individuals with biallelic mutations in LAMA1, all of whom had the cerebellar dysplasia, myopia and retinal dystrophy, in addition to obsessive compulsive traits, tics and anxiety. 27095636 2016
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.120 GeneticVariation group BEFREE In one additional family, we identified two siblings who have truncating LAMA1 mutations in combination with retinal dystrophy and mild cerebellar dysplasia without cysts, indicating that cysts are not an obligate feature associated with loss of LAMA1 function. 25105227 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.120 Biomarker group HPO