LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
0.220 Biomarker disease BEFREE These observations support a key role of the megalin/LRP2 pathway in the progression of nephropathic cystinosis and provide a proof of concept for the pathway as a therapeutic target. 31548351 2019
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
0.220 Biomarker disease MGD The soluble intracellular domain of megalin does not affect renal proximal tubular function in vivo. 20531455 2010
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
0.220 Biomarker disease BEFREE Similar to megalin knockout mice, patients with low molecular weight proteinuria as in Fanconi syndrome are also shown to excrete vitamin/carrier complexes. 10514418 1999
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
0.220 Biomarker disease MGD Similar to megalin knockout mice, patients with low molecular weight proteinuria as in Fanconi syndrome are also shown to excrete vitamin/carrier complexes. 10514418 1999
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
0.220 Biomarker disease MGD Defective forebrain development in mice lacking gp330/megalin. 8710893 1996