rs121912491, LAMB2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pierson syndrome
CUI: C1836876
Disease: Pierson syndrome
0.700 GeneticVariation UNIPROT Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 15367484 2004
Pierson syndrome
CUI: C1836876
Disease: Pierson syndrome
0.700 GeneticVariation UNIPROT Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 16912710 2006