GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Pulmonary Venoocclusive Disease(Pulmonary veno-occlusive disease)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Respiratory 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 BMPR2/659 bone morphogenetic protein receptor type 2 2q33.2 Chr2, NC_000002.12
(202376327..202567749)
191423 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 EIF2AK4/440275 eukaryotic translation initiation factor 2 alpha kinase 4 15q15.1 Chr15, NC_000015.10
(39934115..40035591)
101477 nt 39 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