Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 2592
Gene Symbol: GALT
GALT
CUI: C0086543
Disease: Cataract
Cataract 		0.420 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C0086543
Disease: Cataract
Cataract 		0.410 Biomarker GENOMICS_ENGLAND Congenital glaucoma and CYP1B1: an old story revisited. 29556725

2019
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker GENOMICS_ENGLAND The diagnosis was established after sequencing a panel of genes associated with cataracts, which revealed compound heterozygous SC5D mutations: c.479C>G p.(Pro160Arg) and c.630C>A p.(Asp210Glu). 30097991

2019
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 3299
Gene Symbol: HSF4
HSF4
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
CUI: C0086543
Disease: Cataract
Cataract 		0.390 Biomarker GENOMICS_ENGLAND

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0086543
Disease: Cataract
Cataract 		0.350 Biomarker GENOMICS_ENGLAND We report the first case of an MYH9-RD in a patient of Greek origin presenting with macroscopic hematuria and presenile cataract caused by a p.R1165C mutation. 22627578

2012
Entrez Id: 26173
Gene Symbol: INTS1
INTS1
CUI: C0086543
Disease: Cataract
Cataract 		0.310 Biomarker GENOMICS_ENGLAND Targeted disruption of the murine large nuclear KIAA1440/Ints1 protein causes growth arrest in early blastocyst stage embryos and eventual apoptotic cell death. 17544522

2007
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
CUI: C0086543
Disease: Cataract
Cataract 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 26007
Gene Symbol: TKFC
TKFC
CUI: C0086543
Disease: Cataract
Cataract 		0.300 Biomarker GENOMICS_ENGLAND We postulate that deficiency of TKFC causes disruption of endogenous fructose metabolism leading to generation of by-products that can cause cataract. 32004446

2020
Entrez Id: 23761
Gene Symbol: PISD
PISD
CUI: C0086543
Disease: Cataract
Cataract 		0.300 Biomarker GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161

2019