SEMA4A, semaphorin 4A, 64218

N. diseases: 141; N. variants: 5
Disease: Cone-Rod Dystrophy 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GeneticVariation disease BEFREE We report the first observation of the involvement of SEMA4A gene mutations causing retinitis pigmentosa (RP) and cone rod dystrophy (CRD). 16199541 2006
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GermlineCausalMutation disease ORPHANET We screened the DNA of 135 patients with RP, 25 patients with CRD, and 30 with LCA using SSCP and direct DNA sequencing for mutations in the SEMA4A gene. 16199541 2006