Familial Primary Pulmonary Hypertension Gene Set
Genes
28 genes associated with the disease Familial Primary Pulmonary Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACVRL1
|
activin A receptor type II-like 1
|
|
AQP1
|
aquaporin 1 (Colton blood group)
|
|
ATP13A3
|
ATPase type 13A3
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8
|
|
EDNRB
|
endothelin receptor type B
|
|
EIF2AK4
|
eukaryotic translation initiation factor 2 alpha kinase 4
|
|
ENG
|
endoglin
|
|
FBN1
|
fibrillin 1
|
|
FLNA
|
filamin A, alpha
|
|
GDF2
|
growth differentiation factor 2
|
|
HBG2
|
hemoglobin, gamma G
|
|
HDAC1
|
histone deacetylase 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC5
|
histone deacetylase 5
|
|
IL6
|
interleukin 6
|
|
KCNK3
|
potassium channel, two pore domain subfamily K, member 3
|
|
PAH
|
phenylalanine hydroxylase
|
|
PLA1A
|
phospholipase A1 member A
|
|
PRM3
|
protamine 3
|
|
SMAD1
|
SMAD family member 1
|
|
SMAD4
|
SMAD family member 4
|
|
SMAD9
|
SMAD family member 9
|
|
SOX17
|
SRY (sex determining region Y)-box 17
|
|
SRC
|
SRC proto-oncogene, non-receptor tyrosine kinase
|
|
TBX4
|
T-box 4
|
|
TGFB1
|
transforming growth factor, beta 1
|
