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: |
128866 |
Gene Symbol: |
CHMP4B |
CHMP4B
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
5309 |
Gene Symbol: |
PITX3 |
PITX3
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.
|
30894134 |
2019 |
Entrez Id: |
1969 |
Gene Symbol: |
EPHA2 |
EPHA2
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Our study presented the evidence for a novel EPHA2 kinase domain mutation that causes congenital posterior subcapsular cataracts.
|
31725171 |
2019 |
Entrez Id: |
1969 |
Gene Symbol: |
EPHA2 |
EPHA2
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.
|
23447127 |
2013 |
Entrez Id: |
5309 |
Gene Symbol: |
PITX3 |
PITX3
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.
|
21633712 |
2011 |
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: |
5309 |
Gene Symbol: |
PITX3 |
PITX3
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
The PITX3 gene in posterior polar congenital cataract in Australia.
|
16636655 |
2006 |
Entrez Id: |
55229 |
Gene Symbol: |
PANK4 |
PANK4
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
|
30585370 |
2019 |
Entrez Id: |
4284 |
Gene Symbol: |
MIP |
MIP
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.
|
25803033 |
2015 |
Entrez Id: |
1410 |
Gene Symbol: |
CRYAB |
CRYAB
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.
|
25195561 |
2014 |
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: |
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: |
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 |
|
|
|