Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4051
Gene Symbol: CYP4F3
CYP4F3
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.030 GeneticVariation BEFREE In addition to the expression studies of these two examples of mutants in the C-terminal region of cytochrome P-450(17) alpha, a third mutant cDNA construct containing a 4-base duplication at codon 480 previously found in patients with combined 17 alpha-hydroxylase/17,20-lyase deficiency was also expressed in COS-1 cells. 1515452

1992
Entrez Id: 4051
Gene Symbol: CYP4F3
CYP4F3
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.030 GeneticVariation BEFREE Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. 2808364

1989
Entrez Id: 4051
Gene Symbol: CYP4F3
CYP4F3
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.030 GeneticVariation BEFREE Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450. 3263289

1988