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).