CLCN4, chloride voltage-gated channel 4, 1183

N. diseases: 22; N. variants: 0
Disease: Ocular albinism, type I ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.020 Biomarker disease BEFREE We now report the mapping of the murine homologues of APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), two genes that are located on the human X chromosome at band p22.3 and in close proximity to CLCN4. 8661129 1996
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.020 GeneticVariation disease BEFREE A TaqI RFLP was detected within the ClCN4 gene, which lies between the loci for OA1 and MLS. 7759088 1995