Paroxysmal Nocturnal Hemoglobinuria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description NT MGI. (Human Disease Ontology, DOID_0060284)
External Link https://www.disgenet.org/browser/0/1/0/C0024790
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Genes

128 genes associated with the disease Paroxysmal Nocturnal Hemoglobinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AKT1 v-akt murine thymoma viral oncogene homolog 1
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ATF2 activating transcription factor 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRD4 bromodomain containing 4
BST1 bone marrow stromal cell antigen 1
C3 complement component 3
C5 complement component 5
C6 complement component 6
CAP1 CAP, adenylate cyclase-associated protein 1 (yeast)
CCL2 chemokine (C-C motif) ligand 2
CCR2 chemokine (C-C motif) receptor 2
CD14 CD14 molecule
CD160 CD160 molecule
CD1D CD1d molecule
CD24 CD24 molecule
CD34 CD34 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD38 CD38 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD48 CD48 molecule
CD52 CD52 molecule
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD59 CD59 molecule, complement regulatory protein
CEACAM8 carcinoembryonic antigen-related cell adhesion molecule 8
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CFD complement factor D (adipsin)
CFH complement factor H
CLYBL citrate lyase beta like
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CRLS1 cardiolipin synthase 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CTC1 CTS telomere maintenance complex component 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR4 chemokine (C-X-C motif) receptor 4
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
ECI2 enoyl-CoA delta isomerase 2
EFS embryonal Fyn-associated substrate
EGR1 early growth response 1
EPO erythropoietin
ERGIC2 ERGIC and golgi 2
F2 coagulation factor II (thrombin)
FAS Fas cell surface death receptor
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FES FES proto-oncogene, tyrosine kinase
FLNA filamin A, alpha
FLT3LG fms-related tyrosine kinase 3 ligand
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
G6PD glucose-6-phosphate dehydrogenase
GEM GTP binding protein overexpressed in skeletal muscle
GIF gastric intrinsic factor (vitamin B synthesis)
GPI glucose-6-phosphate isomerase
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
HACD1 3-hydroxyacyl-CoA dehydratase 1
HLA-A major histocompatibility complex, class I, A
HLA-C major histocompatibility complex, class I, C
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGA2 high mobility group AT-hook 2
HP haptoglobin
HPRT1 hypoxanthine phosphoribosyltransferase 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL1B interleukin 1, beta
IL2 interleukin 2
IL6 interleukin 6
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
JAK2 Janus kinase 2
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KLRC4-KLRK1 KLRC4-KLRK1 readthrough
KLRK1 killer cell lectin-like receptor subfamily K, member 1
LNPEP leucyl/cystinyl aminopeptidase
MME membrane metallo-endopeptidase
MPO myeloperoxidase
MUL1 mitochondrial E3 ubiquitin protein ligase 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NFE2L2 nuclear factor, erythroid 2-like 2
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NR1H4 nuclear receptor subfamily 1, group H, member 4
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PARK2 parkin RBR E3 ubiquitin protein ligase
PGAP1 post-GPI attachment to proteins 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGF phosphatidylinositol glycan anchor biosynthesis, class F
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLAU plasminogen activator, urokinase
PLAUR plasminogen activator, urokinase receptor
PLG plasminogen
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
POLR3E polymerase (RNA) III (DNA directed) polypeptide E (80kD)
PRNP prion protein
PRTN3 proteinase 3
PTPRC protein tyrosine phosphatase, receptor type, C
RBM45 RNA binding motif protein 45
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RPL6 ribosomal protein L6
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SELL selectin L
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SORBS1 sorbin and SH3 domain containing 1
TBCE tubulin folding cofactor E
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TFRC transferrin receptor
THBD thrombomodulin
THPO thrombopoietin
THY1 Thy-1 cell surface antigen
TNF tumor necrosis factor
UBL4A ubiquitin-like 4A
WT1 Wilms tumor 1
ZNF645 zinc finger protein 645