elevated pulmonary artery pressure Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormally elevated blood pressure in the circulation of the pulmonary artery. (Human Phenotype Ontology, HP_0004890)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004890
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Genes

80 genes associated with the elevated pulmonary artery pressure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACTA2 actin, alpha 2, smooth muscle, aorta
ACVRL1 activin A receptor type II-like 1
ADAMTSL2 ADAMTS-like 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALMS1 Alstrom syndrome protein 1
ARHGAP31 Rho GTPase activating protein 31
BANF1 barrier to autointegration factor 1
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CTGF connective tissue growth factor
DOCK6 dedicator of cytokinesis 6
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
FBN1 fibrillin 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXF1 forkhead box F1
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GDF2 growth differentiation factor 2
GJA1 gap junction protein, alpha 1, 43kDa
HBB hemoglobin, beta
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL12B interleukin 12B
IRF5 interferon regulatory factor 5
JAK2 Janus kinase 2
KIAA0319L KIAA0319-like
LIFR leukemia inhibitory factor receptor alpha
LIPA lipase A, lysosomal acid, cholesterol esterase
MGP matrix Gla protein
MLX MLX, MAX dimerization protein
MPL MPL proto-oncogene, thrombopoietin receptor
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFU1 NFU1 iron-sulfur cluster scaffold
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCARB2 scavenger receptor class B, member 2
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SMAD4 SMAD family member 4
SMAD9 SMAD family member 9
SNX10 sorting nexin 10
TBX2 T-box 2
TBX4 T-box 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THPO thrombopoietin
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11