POU3F4, POU class 3 homeobox 4, 5456

N. diseases: 65; N. variants: 18
Disease: Choroideremia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.130 GeneticVariation disease BEFREE The X-chromosomal breakpoint was located within a region where both the choroideremia locus and a deafness locus (DFN3/POU3F4) have been mapped. 11035551 2000
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.130 Biomarker disease BEFREE The identification of deletions associated with classic CHM or DFN3 facilitated the positional cloning of the underlying genes, REP-1 and POU3F4, respectively, and enabled the positioning of the MRX gene in between these genes. 10644430 1999
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.130 GeneticVariation disease BEFREE We have produced a physical map of the X-chromosome region containing choroideremia and DFN3 by using routine Southern blotting, chromosome walking and jumping techniques, and long-range restriction mapping to generate and link anonymous DNA sequences in this region. 2491012 1989
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.130 Biomarker disease HPO