GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Uveal Melanoma(Intraocular melanoma)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cancer 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 GNAQ/2776 G protein subunit alpha q 9q21.2 Chr9, NC_000009.12
(77716097..78031811, complement)
315715 nt 9 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 BAP1/8314 BRCA1 associated protein 1 3p21.1 Chr3, NC_000003.12
(52401008..52410008, complement)
9001 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          Human Phenotype Ontology          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development