GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Morning Glory Disc Anomaly(Ectasic coloboma)      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 PAX6/5080 paired box 6 11p13 Chr11, NC_000011.10
(31789026..31817961, complement)
28936 nt 25 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development