Condition: Congenital cataract


rs864309680 in BCOR gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs397515625 in CRYAA;LOC107987300 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs144451841 in CRYAB gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309682 in CRYBA4;CRYBB1 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs147344332 in CRYBB2 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs74315490 in CRYBB3 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs587778872 in CRYGC;LOC100507443 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309701 in CRYGD;LOC100507443 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309681 in ELP4;PAX6 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309687 in GJA3 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309677 in GJA8 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs28931605 in LOC100507443;CRYGD gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309685 in LOC107987300;CRYAA gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309678 in MAF;LOC101928230 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309693 in MIP gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs114638163 in MIPEP gene and Congenital cataract PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs111534978 in NHS gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs1554985722 in PAX6 gene and Congenital cataract PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs796051881 in PEX5 gene and Congenital cataract PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs864309690 in VIM;VIM-AS1 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.