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CD2AP and nephrotic syndrome are reported together in 1 article.
Gene
CD2AP
- HGNC
- HGNC:14258
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Nephrotic syndrome
108articles
108mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
PMID 23595123 | DOI 10.1038/jhg.2013.27 · Journal of human genetics · 2013 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CD2AP | “To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | NPHS1 | “To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).” | 0.98 | hgnc_dict_v1 |
| gene | NPHS2 | “To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).” | 0.98 | hgnc_dict_v1 |