APEH, acylaminoacyl-peptide hydrolase, 327

N. diseases: 36; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.060 GeneticVariation disease BEFREE LOH was observed at D3F15S2 locus (3p21 telomeric) in > 60% of nonpapillary renal cell carcinomas. 7906993 1993
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.060 Biomarker disease BEFREE The gene from the short arm of chromosome 3, at D3F15S2, frequently deleted in renal cell carcinoma, encodes acylpeptide hydrolase. 1861871 1991
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.060 Biomarker disease BEFREE The second common region of deletion at chromosome 3p21.3 encompasses D3F15S2, at which a high incidence of loss of heterzygosity in renal cell carcinoma has been reported. 1678685 1991
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.060 AlteredExpression disease BEFREE A gene near the D3F15S2 site on 3p is expressed in normal human kidney but not or only at a severely reduced level in 11 of 15 primary renal cell carcinomas (RCC). 2392324 1990
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.060 GeneticVariation disease BEFREE The constitutional heterozygosity for the DNF15S2 locus and for one allele of the c-erbA beta and the c-raf-1 proto-oncogenes was lost in nonpapillary RCCs, whereas both alleles were retained in each papillary RCC analyzed. 2921777 1989
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.060 GeneticVariation disease BEFREE The results support the thesis that a tumor suppressor gene involved in the oncogenesis of RCC may be located distal to the DNF15S2 locus on chromosome 3p. 2924296 1989