LAMA5, laminin subunit alpha 5, 3911

N. diseases: 56; N. variants: 9
Disease: Nephrotic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.310 Biomarker group GENOMICS_ENGLAND In three families, in whom mutations in known NS genes were excluded, but in whom a recessive, monogenic cause of NS was strongly suspected based on pedigree information, we identified homozygous variants of unknown significance (VUS) in the gene LAMA5. 29534211 2019
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.310 GeneticVariation group BEFREE In three families, in whom mutations in known NS genes were excluded, but in whom a recessive, monogenic cause of NS was strongly suspected based on pedigree information, we identified homozygous variants of unknown significance (VUS) in the gene LAMA5. 29534211 2019