LAMA5, laminin subunit alpha 5, 3911

N. diseases: 56; N. variants: 9
Disease: Hematuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018965
Disease: Hematuria
Hematuria 		0.020 GeneticVariation phenotype BEFREE Mice with a hypomorphic mutation in the orthologous gene Lama5 develop proteinuria and hematuria. 29534211 2019
CUI: C0018965
Disease: Hematuria
Hematuria 		0.020 GeneticVariation phenotype BEFREE This is the third report linking a LAMA5 variant with human renal disease and expanding the spectrum of genes involved in glomerular pathologies accompanied by familial hematurias. 29764427 2018