Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Peroxisome Biogenesis Disorder, Complementation Group C
0.030 GeneticVariation disease BEFREE However, we found a CCC (Pro) to CGC (Arg) codon 179 mutation in the ACI-158 serous carcinoma cell line, a CCC (Pro) to CTC (Leu) in a primary serous carcinoma as well as a CGC (Arg) to CAC (His) codon 258 mutation in a poorly differentiated endometrioid cancer. 21882256 2012
Peroxisome Biogenesis Disorder, Complementation Group C
0.030 GeneticVariation disease BEFREE Genomic DNA was amplified by PCR using a mismatched oligonucleotide primer that produced a unique restriction site (Dra III) only if the DNA sample contained the mutation in codon 218: CGC (Arg) to CAC (His). 12099390 2002
Peroxisome Biogenesis Disorder, Complementation Group C
0.030 GeneticVariation disease BEFREE Analysis of her P450c17 gene by polymerase chain reaction amplification and direct sequencing showed mutation of codon 440 from CGC (Arg) to CAC (His). 8027220 1994