CD2AP, CD2 associated protein, 23607

N. diseases: 113; N. variants: 14
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842982
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO 		0.400 Biomarker phenotype GENOMICS_ENGLAND Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice. 30612599 2019
CUI: C1842982
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO 		0.400 Biomarker phenotype GENOMICS_ENGLAND Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. 17713465 2007
CUI: C1842982
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO 		0.400 CausalMutation phenotype CLINVAR