Pulmonary Venoocclusive Disease(Pulmonary veno-occlusive disease) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Respiratory disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Respiratory disorders category
Reported Pathogenic variants
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 |