Condition: Abnormality of the eye


rs63750459 in ABCC6 gene and Abnormality of the eye PMID 12673275 2003 ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

PMID 11536079 2001 A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

rs113331868 in CAMK2A gene and Abnormality of the eye PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554385305 in CAMK2B gene and Abnormality of the eye PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs552069173 in CNGA3 gene and Abnormality of the eye PMID 11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.

rs397515360 in CNGB3 gene and Abnormality of the eye PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.

rs758291149 in IMPG2 gene and Abnormality of the eye PMID 20673862 2010 Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

rs386834261 in RDH12;GPHN;ZFYVE26 gene and Abnormality of the eye PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

rs565837539 in RPGRIP1 gene and Abnormality of the eye PMID 24123792 2013 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

rs773970123 in TYR;LOC107984363 gene and Abnormality of the eye PMID 16098056 2005 Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).