GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Gastrointestinal Stroma Tumor(Gastrointestinal stromal sarcoma)      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 PDGFRA/5156 platelet derived growth factor receptor alpha 4q12 Chr4, NC_000004.12
(54229293..54298245)
68953 nt 30 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 KIT/3815 KIT proto-oncogene, receptor tyrosine kinase 4q12 Chr4, NC_000004.12
(54657957..54740715)
82759 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 SDHB/6390 succinate dehydrogenase complex iron sulfur subunit B 1p36.13 Chr1, NC_000001.11
(17018722..17054032, complement)
35311 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 SDHC/6391 succinate dehydrogenase complex subunit C 1q23.3 Chr1, NC_000001.11
(161314381..161363206)
48826 nt 9 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 SDHA/6389 succinate dehydrogenase complex flavoprotein subunit A 5p15.33 Chr5, NC_000005.10
(218320..268746)
50427 nt 17 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