Respiratory Failure Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A lung disease characterized by inadequate gas exchange by the respiratory system. (Human Disease Ontology, DOID_11162)
External Link https://www.disgenet.org/browser/0/1/0/C1145670
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Genes

314 genes associated with the disease Respiratory Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACADVL acyl-CoA dehydrogenase, very long chain
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)
ACE angiotensin I converting enzyme
ACHE acetylcholinesterase (Yt blood group)
ACSS2 acyl-CoA synthetase short-chain family member 2
ACTA1 actin, alpha 1, skeletal muscle
ACVR1 activin A receptor, type I
ADM adrenomedullin
ADRB2 adrenoceptor beta 2, surface
AGRN agrin
AGTPBP1 ATP/GTP binding protein 1
AHCY adenosylhomocysteinase
AK9 adenylate kinase 9
ALB albumin
ALK anaplastic lymphoma receptor tyrosine kinase
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPT1 angiopoietin 1
ANXA11 annexin A11
ARSA arylsulfatase A
ARSL arylsulfatase L
ASCC1 activating signal cointegrator 1 complex subunit 1
ASXL1 additional sex combs like transcriptional regulator 1
ATAD1 ATPase family, AAA domain containing 1
ATOH1 atonal homolog 1 (Drosophila)
ATXN1 ataxin 1
ATXN2 ataxin 2
BAG3 BCL2-associated athanogene 3
BCHE butyrylcholinesterase
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BICD2 bicaudal D homolog 2 (Drosophila)
BMI1 BMI1 proto-oncogene, polycomb ring finger
BOLA3 bolA family member 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF10 chromosome 10 open reading frame 10
C19ORF70 chromosome 19 open reading frame 70
C21ORF2 chromosome 21 open reading frame 2
C9ORF72 chromosome 9 open reading frame 72
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CALCA calcitonin-related polypeptide alpha
CAMP cathelicidin antimicrobial peptide
CAPN3 calpain 3, (p94)
CCNF cyclin F
CD19 CD19 molecule
CD40LG CD40 ligand
CDC45 cell division cycle 45
CDC6 cell division cycle 6
CDK2AP2 cyclin-dependent kinase 2 associated protein 2
CDKN2A cyclin-dependent kinase inhibitor 2A
CDT1 chromatin licensing and DNA replication factor 1
CEBPG CCAAT/enhancer binding protein (C/EBP), gamma
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHAT choline O-acetyltransferase
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHMP2B charged multivesicular body protein 2B
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
COL12A1 collagen, type XII, alpha 1
COL13A1 collagen, type XIII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMP cartilage oligomeric matrix protein
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CRP C-reactive protein, pentraxin-related
CRYAB crystallin, alpha B
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTSD cathepsin D
CXCL13 chemokine (C-X-C motif) ligand 13
CXCL8 chemokine (C-X-C motif) ligand 8
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAO D-amino-acid oxidase
DCTN1 dynactin 1
DES desmin
DMD dystrophin
DOK7 docking protein 7
EGFR epidermal growth factor receptor
ELN elastin
EML4 echinoderm microtubule associated protein like 4
EPHA4 EPH receptor A4
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
EXOSC8 exosome component 8
EXOSC9 exosome component 9
FAM20C family with sequence similarity 20, member C
FBLN5 fibulin 5
FBN1 fibrillin 1
FEV FEV (ETS oncogene family)
FGF1 fibroblast growth factor 1 (acidic)
FGF2 fibroblast growth factor 2 (basic)
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FLNA filamin A, alpha
FLNC filamin C, gamma
FN1 fibronectin 1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXM1 forkhead box M1
FSTL1 follistatin-like 1
FUS FUS RNA binding protein
GAA glucosidase, alpha; acid
GATA2 GATA binding protein 2
GCG glucagon
GLE1 GLE1 RNA export mediator
GLS glutaminase
GLT8D1 glycosyltransferase 8 domain containing 1
GMNN geminin, DNA replication inhibitor
GMPPB GDP-mannose pyrophosphorylase B
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GPX4 glutathione peroxidase 4
GREM1 gremlin 1, DAN family BMP antagonist
GSN gelsolin
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HCCS holocytochrome c synthase
HIPK2 homeodomain interacting protein kinase 2
HMGA1 high mobility group AT-hook 1
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HOXA5 homeobox A5
HPS4 Hermansky-Pudlak syndrome 4
HPSE heparanase
HRAS Harvey rat sarcoma viral oncogene homolog
HTRA2 HtrA serine peptidase 2
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IFIH1 interferon induced with helicase C domain 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFT80 intraflagellar transport 80
IFT81 intraflagellar transport 81
IGF1R insulin-like growth factor 1 receptor
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGHMBP2 immunoglobulin mu binding protein 2
IL1RN interleukin 1 receptor antagonist
IL3 interleukin 3
IL5 interleukin 5
IL6 interleukin 6
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KLHL40 kelch-like family member 40
KLHL41 kelch-like family member 41
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LARGE like-glycosyltransferase
LMOD3 leiomodin 3 (fetal)
LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1
LRP4 low density lipoprotein receptor-related protein 4
LTBP3 latent transforming growth factor beta binding protein 3
LYRM7 LYR motif containing 7
MAPT microtubule-associated protein tau
MARCH10 membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase
MATR3 matrin 3
MBL2 mannose-binding lectin (protein C) 2, soluble
MECP2 methyl CpG binding protein 2
MEGF10 multiple EGF-like-domains 10
MGAM maltase-glucoamylase
MGME1 mitochondrial genome maintenance exonuclease 1
MTM1 myotubularin 1
MUC1 mucin 1, cell surface associated
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUSK muscle, skeletal, receptor tyrosine kinase
MYOG myogenin (myogenic factor 4)
MYOT myotilin
MYRF myelin regulatory factor
NABP2 nucleic acid binding protein 2
NAXE NAD(P)HX epimerase
NBN nibrin
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEB nebulin
NEFH neurofilament, heavy polypeptide
NEK1 NIMA-related kinase 1
NFE2L2 nuclear factor, erythroid 2-like 2
NFU1 NFU1 iron-sulfur cluster scaffold
NKX2-1 NK2 homeobox 1
NOTCH2 notch 2
NPC2 Niemann-Pick disease, type C2
OPRM1 opioid receptor, mu 1
OPTN optineurin
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OSTM1 osteopetrosis associated transmembrane protein 1
PAEP progestagen-associated endometrial protein
PAM peptidylglycine alpha-amidating monooxygenase
PDPN podoplanin
PDYN prodynorphin
PEX6 peroxisomal biogenesis factor 6
PFN1 profilin 1
PHF14 PHD finger protein 14
PHOX2B paired-like homeobox 2b
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLA2G15 phospholipase A2, group XV
PLAT plasminogen activator, tissue
POLB polymerase (DNA directed), beta
POMC proopiomelanocortin
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PON1 paraoxonase 1
PON2 paraoxonase 2
PON3 paraoxonase 3
POR P450 (cytochrome) oxidoreductase
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPIG peptidylprolyl isomerase G (cyclophilin G)
PPP6R2 protein phosphatase 6, regulatory subunit 2
PREP prolyl endopeptidase
PRPH peripherin
PSAP prosaposin
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAPSN receptor-associated protein of the synapse
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RPP14 ribonuclease P/MRP 14kDa subunit
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
S100A9 S100 calcium binding protein A9
S100B S100 calcium binding protein B
SARS1 seryl-tRNA synthetase 1
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDC1 syndecan 1
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SELE selectin E
SELENON selenoprotein N
SF3B6 splicing factor 3b, subunit 6, 14kDa
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SH2D1A SH2 domain containing 1A
SHCBP1 SHC SH2-domain binding protein 1
SI sucrase-isomaltase (alpha-glucosidase)
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1
SLC25A26 solute carrier family 25 (S-adenosylmethionine carrier), member 26
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
SNX27 sorting nexin family member 27
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SON SON DNA binding protein
SPSB1 splA/ryanodine receptor domain and SOCS box containing 1
SQSTM1 sequestosome 1
STAG2 stromal antigen 2
STMN1 stathmin 1
SUB1 SUB1 homolog (S. cerevisiae)
SUCLG1 succinate-CoA ligase, alpha subunit
SURF1 surfeit 1
TAC1 tachykinin, precursor 1
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
TARDBP TAR DNA binding protein
TBCD tubulin folding cofactor D
TBK1 TANK-binding kinase 1
TBX4 T-box 4
THBD thrombomodulin
TK2 thymidine kinase 2, mitochondrial
TLR4 toll-like receptor 4
TM7SF2 transmembrane 7 superfamily member 2
TMEM70 transmembrane protein 70
TNF tumor necrosis factor
TNRC6B trinucleotide repeat containing 6B
TNRC6C trinucleotide repeat containing 6C
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TREM2 triggering receptor expressed on myeloid cells 2
TRH thyrotropin-releasing hormone
TRPM4 transient receptor potential cation channel, subfamily M, member 4
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
TTF1 transcription termination factor, RNA polymerase I
TTN titin
TTR transthyretin
TUFM Tu translation elongation factor, mitochondrial
TXNRD2 thioredoxin reductase 2
UBAP2L ubiquitin associated protein 2-like
UBE3B ubiquitin protein ligase E3B
UBQLN2 ubiquilin 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UCN3 urocortin 3
UNC13A unc-13 homolog A (C. elegans)
UNC80 unc-80 homolog (C. elegans)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VAV1 vav 1 guanine nucleotide exchange factor
VCP valosin containing protein
VRK1 vaccinia related kinase 1
WFDC2 WAP four-disulfide core domain 2
ZPR1 ZPR1 zinc finger