LAMA3, laminin subunit alpha 3, 3909

N. diseases: 110; N. variants: 86
Disease: Amelogenesis imperfecta local hypoplastic form ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		0.300 Biomarker disease GENOMICS_ENGLAND Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. 27827380 2016