CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
Disease: Amaurosis congenita of Leber, type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894673
rs104894673
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C2931258
Disease:
Amaurosis congenita of Leber, type 1 		0.030 GeneticVariation BEFREE R90W mice carry a substitution mutation in the CRX homeodomain, Arg90Trp, which is associated with dominant mild late-onset CoRD and recessive LCA. 24516401 2014
dbSNP: rs104894673
rs104894673
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C2931258
Disease:
Amaurosis congenita of Leber, type 1 		0.030 GeneticVariation BEFREE The R90W mutation of Crx found in LCA disrupts the nuclear transport of the mutant protein. 10967037 2000
dbSNP: rs104894673
rs104894673
Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C2931258
Disease:
Amaurosis congenita of Leber, type 1 		0.030 GeneticVariation BEFREE These data suggest that the R90W mutation results in a CRX protein with reduced DNA binding and transcriptional regulatory activity and that the subsequent changes in photoreceptor gene expression lead to the very early onset severe visual impairment in LCA. 9931337 1999