Gene | Disease | Inheritance | Function |
BMPR2 | IPAH/HPAH | Autosomal dominant | Type II receptor of TGF-beta family of signaling molecules |
ALK1 | HHT | Autosomal dominant | Type I receptor of TGF-beta family |
ENG | HHT | Autosomal dominant | Type II receptor of TGF-beta family |
SMAD1 | IPAH/HPAH | N/A | Signal transduction molecule |
SMAD4 | HHT | Autosomal dominant | Signal transduction molecule |
SMAD9 | IPAH/HPAH | Autosomal dominant | Signal transduction molecule |
KCNK3 | IPAH/HPAH | Autosomal dominant | pH-sensitive potassium channel |
CAV1 | IPAH/HPAH | Autosomal dominant | Membrane protein required for formation of caveolae |
EIF2AK4 | PVOD/PCH | Autosomal recessive | Kinase involved in control of angiogenesis |
SOX17 | IPAH/HPAH | Autosomal dominant | Sox family transcription factor |
TBX4 | Small patellar syndrome | Autosomal dominant | T-box transcription factor |
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