GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Bone Osteosarcoma(Osteosarcoma)      Explore Disorder's Alias
An Somatic mutation 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 CHEK2/11200 checkpoint kinase 2 22q12.1 Chr22, NC_000022.11
(28687743..28741834, complement)
54092 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 TSC2/7249 TSC complex subunit 2 16p13.3 Chr16, NC_000016.10
(2047985..2089491)
41507 nt 45 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          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development