Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4284
Gene Symbol: MIP
MIP 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2592
Gene Symbol: GALT
GALT 		0.420 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8 		0.410 Biomarker disease GENOMICS_ENGLAND Congenital glaucoma and CYP1B1: an old story revisited. 29556725 2019
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.400 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6309
Gene Symbol: SC5D
SC5D 		0.400 Biomarker disease 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: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.400 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3299
Gene Symbol: HSF4
HSF4 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2 		0.390 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4627
Gene Symbol: MYH9
MYH9 		0.350 Biomarker disease 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: 5308
Gene Symbol: PITX2
PITX2 		0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 26173
Gene Symbol: INTS1
INTS1 		0.310 Biomarker disease 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: 23761
Gene Symbol: PISD
PISD 		0.300 Biomarker disease GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019
Entrez Id: 26007
Gene Symbol: TKFC
TKFC 		0.300 Biomarker disease 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: 1421
Gene Symbol: CRYGD
CRYGD 		0.700 Biomarker disease HPO
Entrez Id: 4284
Gene Symbol: MIP
MIP 		0.700 Biomarker disease HPO
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.500 Biomarker disease HPO
Entrez Id: 5309
Gene Symbol: PITX3
PITX3 		0.500 Biomarker disease HPO
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.500 Biomarker disease HPO
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		0.500 Biomarker disease HPO
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		0.500 Biomarker disease HPO
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS 		0.480 Biomarker disease HPO
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.460 Biomarker disease HPO
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.460 Biomarker disease HPO