CD2AP, CD2 associated protein, 23607

N. diseases: 113; N. variants: 14
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.300 GermlineCausalMutation disease ORPHANET Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. 17713465 2007