GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Exudative Vitreoretinopathy 1(Criswick-Schepens syndrome)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Eye disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 FZD4/8322 frizzled class receptor 4 11q14.2 Chr11, NC_000011.10
(86945679..86955395, complement)
9717 nt 2 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 CTNNB1/1499 catenin beta 1 3p22.1 Chr3, NC_000003.12
(41199505..41240443)
40939 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 LRP5/4041 LDL receptor related protein 5 11q13.2 Chr11, NC_000011.10
(68298412..68449275)
150864 nt 28 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information             Highlighted rows indicate variants are reported from India
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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