Cystic Fibrosis Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. (Human Disease Ontology, DOID_1485)
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Genes

252 genes associated with the Cystic Fibrosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ACKR3 atypical chemokine receptor 3
ADIPOR2 adiponectin receptor 2
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
APIP APAF1 interacting protein
AZU1 azurocidin 1
BMX BMX non-receptor tyrosine kinase
C3 complement component 3
CALCR calcitonin receptor
CAPN10 calpain 10
CCL1 chemokine (C-C motif) ligand 1
CCL11 chemokine (C-C motif) ligand 11
CCL13 chemokine (C-C motif) ligand 13
CCL2 chemokine (C-C motif) ligand 2
CCL23 chemokine (C-C motif) ligand 23
CCL24 chemokine (C-C motif) ligand 24
CCL26 chemokine (C-C motif) ligand 26
CCL3 chemokine (C-C motif) ligand 3
CCL4 chemokine (C-C motif) ligand 4
CCL7 chemokine (C-C motif) ligand 7
CCL8 chemokine (C-C motif) ligand 8
CCR1 chemokine (C-C motif) receptor 1
CCR3 chemokine (C-C motif) receptor 3
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCR6 chemokine (C-C motif) receptor 6
CCR7 chemokine (C-C motif) receptor 7
CCR9 chemokine (C-C motif) receptor 9
CCRL2 chemokine (C-C motif) receptor-like 2
CD14 CD14 molecule
CDC42 cell division cycle 42
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CFB complement factor B
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHIT1 chitinase 1 (chitotriosidase)
CHUK conserved helix-loop-helix ubiquitous kinase
CLCA1 chloride channel accessory 1
CLCA4 chloride channel accessory 4
CLCN2 chloride channel, voltage-sensitive 2
COL1A1 collagen, type I, alpha 1
CSK c-src tyrosine kinase
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL11 chemokine (C-X-C motif) ligand 11
CXCL13 chemokine (C-X-C motif) ligand 13
CXCL14 chemokine (C-X-C motif) ligand 14
CXCL2 chemokine (C-X-C motif) ligand 2
CXCL3 chemokine (C-X-C motif) ligand 3
CXCL6 chemokine (C-X-C motif) ligand 6
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR1 chemokine (C-X-C motif) receptor 1
CXCR2 chemokine (C-X-C motif) receptor 2
CYBB cytochrome b-245, beta polypeptide
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
DEFA4 defensin, alpha 4, corticostatin
DEFB1 defensin, beta 1
DEFB103B defensin, beta 103B
DEFB104A defensin, beta 104A
DEFB4A defensin, beta 4A
DUOX1 dual oxidase 1
DUOX2 dual oxidase 2
DUOXA1 dual oxidase maturation factor 1
EDN1 endothelin 1
EDN2 endothelin 2
EDN3 endothelin 3
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EHF ets homologous factor
ESR1 estrogen receptor 1
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCN1 ficolin (collagen/fibrinogen domain containing) 1
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FGR FGR proto-oncogene, Src family tyrosine kinase
FPR2 formyl peptide receptor 2
FUT2 fucosyltransferase 2 (secretor status included)
FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
FYN FYN proto-oncogene, Src family tyrosine kinase
GCLC glutamate-cysteine ligase, catalytic subunit
GSTM1 glutathione S-transferase mu 1
GSTM3 glutathione S-transferase mu 3 (brain)
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HCK HCK proto-oncogene, Src family tyrosine kinase
HFE hemochromatosis
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMOX1 heme oxygenase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPA1B heat shock 70kDa protein 1B
ICAM1 intercellular adhesion molecule 1
IFNGR1 interferon gamma receptor 1
IFRD1 interferon-related developmental regulator 1
IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IL10 interleukin 10
IL17C interleukin 17C
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL4 interleukin 4
IL6 interleukin 6
IRAK1 interleukin-1 receptor-associated kinase 1
IRAK2 interleukin-1 receptor-associated kinase 2
IRAK4 interleukin-1 receptor-associated kinase 4
KRT18 keratin 18, type I
KRT19 keratin 19, type I
KRT8 keratin 8, type II
LBP lipopolysaccharide binding protein
LCK LCK proto-oncogene, Src family tyrosine kinase
LCT lactase
LMAN1 lectin, mannose-binding, 1
LPO lactoperoxidase
LTA lymphotoxin alpha
LYN LYN proto-oncogene, Src family tyrosine kinase
MAPK1 mitogen-activated protein kinase 1
MAPK10 mitogen-activated protein kinase 10
MAPK11 mitogen-activated protein kinase 11
MAPK13 mitogen-activated protein kinase 13
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MASP2 mannan-binding lectin serine peptidase 2
MBL2 mannose-binding lectin (protein C) 2, soluble
MEFV Mediterranean fever
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP12 matrix metallopeptidase 12
MSRA methionine sulfoxide reductase A
MUC1 mucin 1, cell surface associated
MUC2 mucin 2, oligomeric mucus/gel-forming
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MUC7 mucin 7, secreted
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta
NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOX1 NADPH oxidase 1
NOX3 NADPH oxidase 3
NOX4 NADPH oxidase 4
NOX5 NADPH oxidase, EF-hand calcium binding domain 5
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OGG1 8-oxoguanine DNA glycosylase
P2RY1 purinergic receptor P2Y, G-protein coupled, 1
P2RY2 purinergic receptor P2Y, G-protein coupled, 2
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PAK2 p21 protein (Cdc42/Rac)-activated kinase 2
PF4V1 platelet factor 4 variant 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PLA2G2D phospholipase A2, group IID
PLA2G2E phospholipase A2, group IIE
PLA2G2F phospholipase A2, group IIF
PLA2G3 phospholipase A2, group III
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLA2G4B phospholipase A2, group IVB (cytosolic)
PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLCB2 phospholipase C, beta 2
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific)
PLCB4 phospholipase C, beta 4
PLCD1 phospholipase C, delta 1
PLCD3 phospholipase C, delta 3
PLCD4 phospholipase C, delta 4
PLCE1 phospholipase C, epsilon 1
PLCG1 phospholipase C, gamma 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PPP2R4 protein phosphatase 2A activator, regulatory subunit 4
PRSS1 protease, serine, 1 (trypsin 1)
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2 protein tyrosine kinase 2
PTK2B protein tyrosine kinase 2 beta
PTX3 pentraxin 3, long
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RASSF6 Ras association (RalGDS/AF-6) domain family member 6
RHOA ras homolog family member A
RHOC ras homolog family member C
RHOG ras homolog family member G
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SFTPD surfactant protein D
SLC26A9 solute carrier family 26 (anion exchanger), member 9
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC6A14 solute carrier family 6 (amino acid transporter), member 14
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SNAP23 synaptosomal-associated protein, 23kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SPINK1 serine peptidase inhibitor, Kazal type 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STX1A syntaxin 1A (brain)
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TF transferrin
TFR2 transferrin receptor 2
TGFB1 transforming growth factor, beta 1
TLR1 toll-like receptor 1
TLR10 toll-like receptor 10
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLR6 toll-like receptor 6
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TRAF1 TNF receptor-associated factor 1
TRAF2 TNF receptor-associated factor 2
TRAF3 TNF receptor-associated factor 3
TRAF4 TNF receptor-associated factor 4
TRAF5 TNF receptor-associated factor 5
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YES1 YES proto-oncogene 1, Src family tyrosine kinase
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa