Pulmonary Arterial Hypertension(PAH)
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cardiovascular 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 | ACVRL1/94 | activin A receptor like type 1 | 12q13.13 | Chr12, NC_000012.12 (51906944..51923361) |
16418 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | 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 |
| 3 | ENG/2022 | endoglin | 9q34.11 | Chr9, NC_000009.12 (127815016..127854658, complement) |
39643 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | SMAD9/4093 | SMAD family member 9 | 13q13.3 | Chr13, NC_000013.11 (36844831..36920854, complement) |
76024 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | TBX4/9496 | T-box transcription factor 4 | 17q23.2 | Chr17, NC_000017.11 (61452422..61485110) |
32689 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | ABCA3/21 | ATP binding cassette subfamily A member 3 | 16p13.3 | Chr16, NC_000016.10 (2275881..2340728, complement) |
64848 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | KCNK3/3777 | potassium two pore domain channel subfamily K member 3 | 2p23.3 | Chr2, NC_000002.12 (26692722..26733420) |
40699 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | 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 |
| 9 | ATP13A3/79572 | ATPase 13A3 | 3q29 | Chr3, NC_000003.12 (194402677..194494334, complement) |
91658 nt | 41 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | SOX17/64321 | SRY-box transcription factor 17 | 8q11.23 | Chr8, NC_000008.11 (54457935..54460892) |
2958 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | NOTCH1/4851 | notch receptor 1 | 9q34.3 | Chr9, NC_000009.12 (136494433..136546048, complement) |
51616 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||