abnormality of the pulmonary vasculature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004930
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Genes

142 genes associated with the abnormality of the pulmonary vasculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
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
AGGF1 angiogenic factor with G patch and FHA domains 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALMS1 Alstrom syndrome protein 1
ARHGAP31 Rho GTPase activating protein 31
B3GALTL beta 1,3-galactosyltransferase-like
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, 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
CCDC22 coiled-coil domain containing 22
CCR6 chemokine (C-C motif) receptor 6
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CRELD1 cysteine-rich with EGF-like domains 1
CRTAP cartilage associated protein
CTGF connective tissue growth factor
DHCR24 24-dehydrocholesterol reductase
DLL3 delta-like 3 (Drosophila)
DOCK6 dedicator of cytokinesis 6
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ELN elastin
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
FADD Fas (TNFRSF6)-associated via death domain
FAM58A family with sequence similarity 58, member A
FBLN5 fibulin 5
FBN1 fibrillin 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXF1 forkhead box F1
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GDF1 growth differentiation factor 1
GDF2 growth differentiation factor 2
GJA1 gap junction protein, alpha 1, 43kDa
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBB hemoglobin, beta
HES7 hes family bHLH transcription factor 7
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-
IFT43 intraflagellar transport 43
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL12B interleukin 12B
IRF5 interferon regulatory factor 5
JAG1 jagged 1
JAK2 Janus kinase 2
KAT6B K(lysine) acetyltransferase 6B
KIAA0196 KIAA0196
KIAA0319L KIAA0319-like
KRAS Kirsten rat sarcoma viral oncogene homolog
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LTBP4 latent transforming growth factor beta binding protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGP matrix Gla protein
MITF microphthalmia-associated transcription factor
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
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
ND1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFU1 NFU1 iron-sulfur cluster scaffold
NKX2-5 NK2 homeobox 5
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PAX6 paired box 6
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PORCN porcupine homolog (Drosophila)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCARB2 scavenger receptor class B, member 2
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SMAD4 SMAD family member 4
SMAD9 SMAD family member 9
SNAI2 snail family zinc finger 2
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
STRA6 stimulated by retinoic acid 6
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TBX4 T-box 4
TBX5 T-box 5
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THPO thrombopoietin
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
WNT3 wingless-type MMTV integration site family, member 3
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
ZEB2 zinc finger E-box binding homeobox 2