SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
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 		0.120 GeneticVariation group BEFREE A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the beta-glucosidase (betaGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. 19454373 2009
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.120 GeneticVariation group BEFREE A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 18424452 2008
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.120 Biomarker group HPO