respiratory function tests Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc. (Experimental Factor Ontology, EFO_0003892)
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Genes

146 genes associated with the disease respiratory function tests in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13
ABHD12B abhydrolase domain containing 12B
ADAM19 ADAM metallopeptidase domain 19
ADARB1 adenosine deaminase, RNA-specific, B1
ADGRG6 adhesion G protein-coupled receptor G6
ADGRL4 adhesion G protein-coupled receptor L4
ADRA1D adrenoceptor alpha 1D
AGBL4 ATP/GTP binding protein-like 4
AGER advanced glycosylation end product-specific receptor
ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle)
ANKRD44 ankyrin repeat domain 44
ANKRD7 ankyrin repeat domain 7
ARMC2 armadillo repeat containing 2
ASB1 ankyrin repeat and SOCS box containing 1
ATP10B ATPase, class V, type 10B
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATRNL1 attractin-like 1
ATXN7 ataxin 7
AUH AU RNA binding protein/enoyl-CoA hydratase
BTBD16 BTB (POZ) domain containing 16
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
C10ORF11 chromosome 10 open reading frame 11
CADM1 cell adhesion molecule 1
CADM2 cell adhesion molecule 2
CAST calpastatin
CCBL2 cysteine conjugate-beta lyase 2
CCDC174 coiled-coil domain containing 174
CCDC38 coiled-coil domain containing 38
CCDC91 coiled-coil domain containing 91
CDC123 cell division cycle 123
CDH13 cadherin 13
CFAP47 cilia and flagella associated protein 47
CFDP1 craniofacial development protein 1
CHRM3 cholinergic receptor, muscarinic 3
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CLCA1 chloride channel accessory 1
CLSTN2 calsyntenin 2
COL1A2 collagen, type I, alpha 2
DAAM2 dishevelled associated activator of morphogenesis 2
DFNB31 deafness, autosomal recessive 31
DLG1 discs, large homolog 1 (Drosophila)
DNAH6 dynein, axonemal, heavy chain 6
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK4 dedicator of cytokinesis 4
DPP10 dipeptidyl-peptidase 10 (non-functional)
DSCAM Down syndrome cell adhesion molecule
EFHC1 EF-hand domain (C-terminal) containing 1
EGFR epidermal growth factor receptor
EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1
EYA2 EYA transcriptional coactivator and phosphatase 2
FAM13A family with sequence similarity 13, member A
FAM172A family with sequence similarity 172, member A
FBXL7 F-box and leucine-rich repeat protein 7
FHIT fragile histidine triad
FOCAD focadhesin
FUT9 fucosyltransferase 9 (alpha (1,3) fucosyltransferase)
GEMIN5 gem (nuclear organelle) associated protein 5
GLIS3 GLIS family zinc finger 3
GRM1 glutamate receptor, metabotropic 1
GSTCD glutathione S-transferase, C-terminal domain containing
GSTO2 glutathione S-transferase omega 2
HNRNPLL heterogeneous nuclear ribonucleoprotein L-like
HSF2 heat shock transcription factor 2
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
IGF1R insulin-like growth factor 1 receptor
INTS12 integrator complex subunit 12
ITGA1 integrin, alpha 1
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JAM2 junctional adhesion molecule 2
KCNH7 potassium channel, voltage gated eag related subfamily H, member 7
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KIAA1211 KIAA1211
KIAA2026 KIAA2026
LAMA1 laminin, alpha 1
LINGO2 leucine rich repeat and Ig domain containing 2
LIPF lipase, gastric
LIPM lipase, family member M
LMX1A LIM homeobox transcription factor 1, alpha
LRP1 low density lipoprotein receptor-related protein 1
LRRC49 leucine rich repeat containing 49
M1AP meiosis 1 associated protein
MAP10 microtubule-associated protein 10
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase
MAST2 microtubule associated serine/threonine kinase 2
MCC mutated in colorectal cancers
MECOM MDS1 and EVI1 complex locus
MFAP2 microfibrillar-associated protein 2
MICB MHC class I polypeptide-related sequence B
MMP15 matrix metallopeptidase 15 (membrane-inserted)
MOB3B MOB kinase activator 3B
MOXD1 monooxygenase, DBH-like 1
MSANTD3 Myb/SANT-like DNA-binding domain containing 3
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MYO16 myosin XVI
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NHLRC2 NHL repeat containing 2
NRG3 neuregulin 3
OPCML opioid binding protein/cell adhesion molecule-like
OSBPL6 oxysterol binding protein-like 6
PAX3 paired box 3
PBRM1 polybromo 1
PDE4DIP phosphodiesterase 4D interacting protein
PDZD2 PDZ domain containing 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PKN2 protein kinase N2
PPHLN1 periphilin 1
PPP1R14C protein phosphatase 1, regulatory (inhibitor) subunit 14C
PROM1 prominin 1
PRSS35 protease, serine, 35
PRUNE2 prune homolog 2 (Drosophila)
PTCH1 patched 1
PTCHD1 patched domain containing 1
PTPRD protein tyrosine phosphatase, receptor type, D
RARB retinoic acid receptor, beta
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RCSD1 RCSD domain containing 1
RPH3A rabphilin 3A
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2
SERINC1 serine incorporator 1
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
SLC27A6 solute carrier family 27 (fatty acid transporter), member 6
SLC44A1 solute carrier family 44 (choline transporter), member 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SNTG1 syntrophin, gamma 1
SNX9 sorting nexin 9
SOBP sine oculis binding protein homolog (Drosophila)
SOX30 SRY (sex determining region Y)-box 30
SPATA13 spermatogenesis associated 13
SYT1 synaptotagmin I
SYT9 synaptotagmin IX
TENM2 teneurin transmembrane protein 2
TENM4 teneurin transmembrane protein 4
THSD4 thrombospondin, type I, domain containing 4
THSD7A thrombospondin, type I, domain containing 7A
TNS1 tensin 1
TPO thyroid peroxidase
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TRPM7 transient receptor potential cation channel, subfamily M, member 7
WWOX WW domain containing oxidoreductase
XIRP2 xin actin binding repeat containing 2
ZFYVE28 zinc finger, FYVE domain containing 28
ZKSCAN3 zinc finger with KRAB and SCAN domains 3
ZKSCAN4 zinc finger with KRAB and SCAN domains 4
ZSCAN31 zinc finger and SCAN domain containing 31
ZW10 zw10 kinetochore protein