Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 GeneticVariation disease BEFREE These results provide conclusive evidence that homozygous mutation of CD2AP causes FSGS in humans. 30612599 2019
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 GeneticVariation disease BEFREE To quantify the contribution of various genes contributing to FSGS, we sequenced INF2 where all mutations have previously been described (exons 2 to 5) in a total of 215 probands and 281 sporadic individuals with FSGS, along with other known genes accounting for autosomal dominant FSGS (ACTN4, TRPC6, and CD2AP) in 213 probands. 23014460 2013
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 GeneticVariation disease BEFREE CD2AP mutations have been found in patients with focal segmental glomerulosclerosis, a disease histologically resembling diabetic nephropathy and often progressing to end-stage renal disease (ESRD). 23681557 2013
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 GeneticVariation disease BEFREE CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). 19131354 2009
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 Biomarker disease BEFREE Moreover, bigenic heterozygosity for synaptopodin and CD2AP is sufficient to induce spontaneous proteinuria and focal segmental glomerulosclerosis-like glomerular damage in mice. 17569780 2007
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 GeneticVariation disease BEFREE Familial and genetic forms of focal segmental glomerulosclerosis (FSGS) are associated with six different mutations in genes affecting the podocyte (NPHS2, ACTN4, CD2AP, WT1, TRPC6, and PLCE1). 17530296 2007
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 Biomarker disease BEFREE Mice deficient in Cd2ap (the mouse homolog) die due to kidney failure, while heterozygous mice develop lesions similar to those of FSGS patients. 17713465 2007
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 Biomarker disease BEFREE Combinations of Cd2ap heterozygosity and heterozygosity of either synaptopodin (Synpo) or Fyn proto-oncogene (Fyn) but not kin of IRRE like 1 (Neph1) resulted in spontaneous proteinuria and in FSGS-like glomerular damage. 16628251 2006
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 GeneticVariation disease BEFREE Two human patients with focal segmental glomerulosclerosis had a mutation predicted to ablate expression of one CD2AP allele, implicating CD2AP as a determinant of human susceptibility to glomerular disease. 12764198 2003
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 Biomarker disease BEFREE The CD2AP +/- heterozygous mice developed by Jeong Kim and colleagues (Science 2003; 300: 1298-300) are haploinsufficient and develop glomerular changes at 9 months of age with a histological pattern similar to that in human focal segmental glomerulosclerosis. 14643126 2003
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 Biomarker disease HPO
Entrez Id: 23607
Gene Symbol: CD2AP
CD2AP
0.500 Biomarker disease CTD_human