Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128866
Gene Symbol: CHMP4B
CHMP4B
0.400 Biomarker disease HPO
Entrez Id: 4942
Gene Symbol: OAT
OAT
0.100 Biomarker disease HPO
Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
0.100 Biomarker disease HPO
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
0.100 Biomarker disease HPO
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
0.100 Biomarker disease HPO
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.100 Biomarker disease HPO
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
0.100 Biomarker disease HPO
Entrez Id: 92840
Gene Symbol: REEP6
REEP6
0.100 Biomarker disease HPO
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
0.100 Biomarker disease HPO
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.100 CausalMutation disease CLINVAR
Entrez Id: 4796
Gene Symbol: TONSL
TONSL
0.100 Biomarker disease HPO
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
0.100 Biomarker disease HPO
Entrez Id: 3111
Gene Symbol: HLA-DOA
HLA-DOA
0.010 Biomarker disease BEFREE Therefore, we have used HLA-DNA typing in order to assign the DR52 splits in PSC patients. 1420116 1992
Entrez Id: 4047
Gene Symbol: LSS
LSS
0.010 Biomarker disease BEFREE USC, OSC, and PSC patients were similar with respect to mean age at diagnosis, mean gravidity, mean parity, personal history of breast cancer, percentage treated with chemotherapy, and survival at 3 and 5 years postdiagnosis. 11104615 2000
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.020 AlteredExpression disease BEFREE We compared the clinical and histopathological findings, immunohistochemical expression of Ki-67 and p53 protein, and HPV typing of 5 cases of PIM with SM (n=9), HSIL (n=6), and PSC (n=4) to know the helpful features for the differential diagnosis. 11748359 2001
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.310 GermlineCausalMutation disease ORPHANET The PITX3 gene in posterior polar congenital cataract in Australia. 16636655 2006
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
0.300 GermlineCausalMutation disease ORPHANET Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 16877416 2006
Entrez Id: 9588
Gene Symbol: PRDX6
PRDX6
0.010 Biomarker disease BEFREE Immunoreactive 1-cysPrx protein was measured in capsulorrhexis specimens obtained from patients with anterior subcapsular cataract (ASC), nuclear sclerosis (NS), cortical spokes (CS), posterior subcapsular cataract (PSC), or white mature cataract (WC) at the time of cataract surgery. 16360653 2006
Entrez Id: 128866
Gene Symbol: CHMP4B
CHMP4B
0.400 GermlineCausalMutation disease ORPHANET CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 17701905 2007
Entrez Id: 6779
Gene Symbol: STATH
STATH
0.010 GeneticVariation disease BEFREE Here we report linkage of autosomal dominant "progressive childhood posterior subcapsular" cataracts segregating in a white family to short tandem repeat (STR) markers D20S847 (LOD score [Z] 5.50 at recombination fraction [theta] 0.0) and D20S195 (Z=3.65 at theta =0.0) on 20q, and identify a refined disease interval (rs2057262-(3.8 Mb)-rs1291139) by use of single-nucleotide polymorphism (SNP) markers. 17701905 2007
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
0.310 GermlineCausalMutation disease ORPHANET Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328 2009
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.300 GermlineCausalMutation disease ORPHANET A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. 20142846 2010
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
0.300 GermlineCausalMutation disease ORPHANET Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. 21031021 2010
Entrez Id: 4311
Gene Symbol: MME
MME
0.010 Biomarker disease BEFREE CD10(+) PSCs significantly increased the tumor growth and invasiveness of SUIT-2 cells in a murine cotransplantation model. 20685603 2010
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.010 GeneticVariation disease BEFREE However, one haplotype allele of NFE2L2 was associated with 2 years earlier age at AD onset (p(c)=0.013) and 4 years earlier age at surgery for posterior subcapsular cataract (p(c)=0.019). 20064547 2010