Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.400 CausalMutation disease CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.400 Biomarker disease GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.400 Biomarker disease HPO
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
0.100 Biomarker disease HPO
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
0.100 Biomarker disease HPO
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
0.100 Biomarker disease HPO
Entrez Id: 146862
Gene Symbol: UNC45B
UNC45B
0.100 Biomarker disease HPO
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
0.100 Biomarker disease HPO
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.100 Biomarker disease HPO
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.100 Biomarker disease HPO
Entrez Id: 403
Gene Symbol: ARL3
ARL3
0.100 Biomarker disease HPO
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
0.100 Biomarker disease HPO
Entrez Id: 4942
Gene Symbol: OAT
OAT
0.100 Biomarker disease HPO
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
0.100 Biomarker disease HPO
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
0.100 Biomarker disease HPO
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.020 AlteredExpression disease BEFREE Expression of α-SMA was examined as a pathological hallmark of anterior subcapsular cataracts, commonly observed in atopic cataracts. 22410565 2012
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 Biomarker disease BEFREE TGFbeta can induce development in lenses of opaque subcapsular fibrotic plaques that have many features of human subcapsular cataracts. 15161862 2004
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.020 Biomarker disease BEFREE The lenses in these mice developed focal plaques of spindle-shaped cells that expressed alpha-smooth muscle actin, and that resembled the plaques seen in human anterior subcapsular cataracts. 9449696 1998
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 AlteredExpression disease BEFREE Lens-specific expression of transforming growth factor beta1 in transgenic mice causes anterior subcapsular cataracts. 9449696 1998
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.010 AlteredExpression disease BEFREE Expression of connective tissue growth factor (CTGF) mRNA in plaques of human anterior subcapsular cataracts and membranes of posterior capsule opacification. 11148599 2000
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.010 Biomarker disease BEFREE Here, we describe a newly recognized inborn error due to the deficiency of P5CS in two siblings with progressive neurodegeneration, joint laxity, skin hyperelasticity and bilateral subcapsular cataracts. 11092761 2000