functional respiratory abnormality Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description This category describes not-primarily structural lesions. (Human Phenotype Ontology, HP_0002795)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0002795
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Genes

222 genes associated with the functional respiratory abnormality phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
GSTCD glutathione S-transferase, C-terminal domain containing 2.06978
AGER advanced glycosylation end product-specific receptor 2.02795
THSD4 thrombospondin, type I, domain containing 4 2.01032
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 1.836
INTS12 integrator complex subunit 12 1.836
MFAP2 microfibrillar-associated protein 2 1.75396
RARB retinoic acid receptor, beta 1.65584
CDC123 cell division cycle 123 1.57861
TNS1 tensin 1 1.5645
ADGRG6 adhesion G protein-coupled receptor G6 1.53903
C10ORF11 chromosome 10 open reading frame 11 1.53903
PTCH1 patched 1 1.51673
CCDC38 coiled-coil domain containing 38 1.48419
CFDP1 craniofacial development protein 1 1.48419
ADAM19 ADAM metallopeptidase domain 19 1.48419
FAM13A family with sequence similarity 13, member A 1.45654
DNER delta/notch-like EGF repeat containing 1.45654
ZSCAN31 zinc finger and SCAN domain containing 31 1.41863
ARHGEF38 Rho guanine nucleotide exchange factor (GEF) 38 1.37298
ARMC2 armadillo repeat containing 2 1.25845
LRP1 low density lipoprotein receptor-related protein 1 1.24751
LOC153910 uncharacterized LOC153910 1.21652
MECOM MDS1 and EVI1 complex locus 1.19958
MMP15 matrix metallopeptidase 15 (membrane-inserted) 1.18704
PPT2 palmitoyl-protein thioesterase 2 1.18055
TUSC3 tumor suppressor candidate 3 1.1784
ASB1 ankyrin repeat and SOCS box containing 1 1.16661
WWOX WW domain containing oxidoreductase 1.16177
DAAM2 dishevelled associated activator of morphogenesis 2 1.16177
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) 1.15743
CASC15 cancer susceptibility candidate 15 (non-protein coding) 1.12851
MICB MHC class I polypeptide-related sequence B 1.12851
ITGA1 integrin, alpha 1 1.12851
PBX2 pre-B-cell leukemia homeobox 2 1.12565
CCBL2 cysteine conjugate-beta lyase 2 1.10917
PADI3 peptidyl arginine deiminase, type III 1.09906
PPP1R14C protein phosphatase 1, regulatory (inhibitor) subunit 14C 1.09906
MOG myelin oligodendrocyte glycoprotein 1.09906
ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 1.09906
ASTN2 astrotactin 2 1.08774
NOTCH4 notch 4 1.07577
SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1.0674
LY6G6D lymphocyte antigen 6 complex, locus G6D 1.06069
SNRPN small nuclear ribonucleoprotein polypeptide N 1.04365
TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 1.04365
PCDH15 protocadherin-related 15 1.04365
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats 1.03217
CHD7 chromodomain helicase DNA binding protein 7 1.02549
FBXO38 F-box protein 38 1.01027
PLXNA4 plexin A4 1.00059
RORA RAR-related orphan receptor A 1.00059
COL1A2 collagen, type I, alpha 2 0.994892
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae) 0.992871
PITPNC1 phosphatidylinositol transfer protein, cytoplasmic 1 0.969142
ADARB1 adenosine deaminase, RNA-specific, B1 0.969142
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.969142
PGBD1 piggyBac transposable element derived 1 0.967514
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase 0.942765
CCDC67 coiled-coil domain containing 67 0.942765
LOC100506354 uncharacterized LOC100506354 0.941615
RAB5B RAB5B, member RAS oncogene family 0.921803
RHBDD1 rhomboid domain containing 1 0.919744
ANK1 ankyrin 1, erythrocytic 0.919744
SNTG1 syntrophin, gamma 1 0.919744
ONECUT1 one cut homeobox 1 0.909447
ZBTB20 zinc finger and BTB domain containing 20 0.90082
NID2 nidogen 2 (osteonidogen) 0.899912
CTNND2 catenin (cadherin-associated protein), delta 2 0.899912
CDH23 cadherin-related 23 0.899912
PDE9A phosphodiesterase 9A 0.899912
LRRC9 leucine rich repeat containing 9 0.899192
DDR1 discoidin domain receptor tyrosine kinase 1 0.899013
ASXL3 additional sex combs like transcriptional regulator 3 0.882984
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 0.882984
PRKCE protein kinase C, epsilon 0.882984
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.882984
IL6R interleukin 6 receptor 0.882984
TRIM27 tripartite motif containing 27 0.867296
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 0.863341
CSMD1 CUB and Sushi multiple domains 1 0.855449
HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 0.855449
KANK1 KN motif and ankyrin repeat domains 1 0.855449
CNTLN centlein, centrosomal protein 0.855449
SYT10 synaptotagmin X 0.849104
CDK2 cyclin-dependent kinase 2 0.84778
GSTO2 glutathione S-transferase omega 2 0.846584
MSH5 mutS homolog 5 0.844663
SUOX sulfite oxidase 0.837193
SNRPF small nuclear ribonucleoprotein polypeptide F 0.836232
IKZF4 IKAROS family zinc finger 4 (Eos) 0.809986
IRF2 interferon regulatory factor 2 0.806402
TSHZ3 teashirt zinc finger homeobox 3 0.805703
MYT1L myelin transcription factor 1-like 0.799669
GNA14 guanine nucleotide binding protein (G protein), alpha 14 0.7965
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.785384
CLOCK clock circadian regulator 0.777754
FBXO25 F-box protein 25 0.772842
PML promyelocytic leukemia 0.772842
PAX3 paired box 3 0.761926
COL16A1 collagen, type XVI, alpha 1 0.761395
ACOXL acyl-CoA oxidase-like 0.759822
ANKRD22 ankyrin repeat domain 22 0.753784
MTMR3 myotubularin related protein 3 0.744976
GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 0.744097
ZNF503-AS1 ZNF503 antisense RNA 1 0.743226
C5ORF56 chromosome 5 open reading frame 56 0.740245
LIPF lipase, gastric 0.729372
MYO1D myosin ID 0.726484
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.723288
BNC2 basonuclin 2 0.721729
STAMBPL1 STAM binding protein-like 1 0.720577
DLG2 discs, large homolog 2 (Drosophila) 0.719817
BAALC brain and acute leukemia, cytoplasmic 0.700393
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 0.695039
PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa 0.693745
SLC12A8 solute carrier family 12, member 8 0.693105
UTRN utrophin 0.692786
ATXN7L1 ataxin 7-like 1 0.688431
YLPM1 YLP motif containing 1 0.685437
TMOD1 tropomodulin 1 0.684556
KCNIP4 Kv channel interacting protein 4 0.67307
ZNF322 zinc finger protein 322 0.66742
PREP prolyl endopeptidase 0.664442
REEP1 receptor accessory protein 1 0.663117
CYFIP2 cytoplasmic FMR1 interacting protein 2 0.658991
LOC285819 uncharacterized LOC285819 0.65625
CLEC19A C-type lectin domain family 19, member A 0.649599
FLJ33534 uncharacterized LOC285150 0.648884
DCDC2 doublecortin domain containing 2 0.647116
FOCAD focadhesin 0.644641
NR2C1 nuclear receptor subfamily 2, group C, member 1 0.642701
NIPAL4 NIPA-like domain containing 4 0.640327
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.635061
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.632852
LOC644145 exocyst complex component 1 pseudogene 0.624461
IL16 interleukin 16 0.62426
NTNG1 netrin G1 0.622665
NANP N-acetylneuraminic acid phosphatase 0.621289
FKBP14 FK506 binding protein 14, 22 kDa 0.618973
HK1 hexokinase 1 0.618593
ARMC1 armadillo repeat containing 1 0.617271
GRK5 G protein-coupled receptor kinase 5 0.616505
CLIP3 CAP-GLY domain containing linker protein 3 0.603964
PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 0.602436
OTUD3 OTU deubiquitinase 3 0.6021
RAB38 RAB38, member RAS oncogene family 0.600766
BTN2A1 butyrophilin, subfamily 2, member A1 0.598797
ANO2 anoctamin 2, calcium activated chloride channel 0.595915
VWF von Willebrand factor 0.593729
SHISA9 shisa family member 9 0.592349
FOXN3 forkhead box N3 0.589794
PQLC3 PQ loop repeat containing 3 0.587592
TRPC7 transient receptor potential cation channel, subfamily C, member 7 0.587158
DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58 0.58687
PRKCI protein kinase C, iota 0.586295
C2ORF50 chromosome 2 open reading frame 50 0.585136
UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) 0.583422
SYNE2 spectrin repeat containing, nuclear envelope 2 0.583301
ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) 0.582219
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 0.582099
FMNL2 formin-like 2 0.581861
PLCXD2 phosphatidylinositol-specific phospholipase C, X domain containing 2 0.57928
SLC39A12 solute carrier family 39 (zinc transporter), member 12 0.579049
ADRB2 adrenoceptor beta 2, surface 0.577904
CHL1 cell adhesion molecule L1-like 0.57745
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.574338
MTNR1B melatonin receptor 1B 0.573794
LMX1A LIM homeobox transcription factor 1, alpha 0.55536
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.516758
SESN1 sestrin 1 0.50495
SOX5 SRY (sex determining region Y)-box 5 0.502867
SMAD3 SMAD family member 3 0.50086
TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 0.498792
AKAP13 A kinase (PRKA) anchor protein 13 0.491241
FKBP5 FK506 binding protein 5 0.489511
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha 0.486163
AKNAD1 AKNA domain containing 1 0.470822
CCDC149 coiled-coil domain containing 149 0.466578
ANGPT1 angiopoietin 1 0.463909
PADI2 peptidyl arginine deiminase, type II 0.462491
FAM65B family with sequence similarity 65, member B 0.462237
PDE7B phosphodiesterase 7B 0.461356
NWD2 NACHT and WD repeat domain containing 2 0.456563
NUMB numb homolog (Drosophila) 0.455422
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 0.454274
CDH13 cadherin 13 0.450957
SLC6A17 solute carrier family 6 (neutral amino acid transporter), member 17 0.442937
ANG angiogenin, ribonuclease, RNase A family, 5 0.438588
PRSS3 protease, serine, 3 0.429005
ASIC2 acid sensing (proton gated) ion channel 2 0.428386
GRIK2 glutamate receptor, ionotropic, kainate 2 0.425664
WNK2 WNK lysine deficient protein kinase 2 0.425272
YTHDC1 YTH domain containing 1 0.398704
DNAH12 dynein, axonemal, heavy chain 12 0.397761
KIAA0922 KIAA0922 0.395421
SULF1 sulfatase 1 0.394858
NMU neuromedin U 0.394056
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 0.392883
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.391185
USP47 ubiquitin specific peptidase 47 0.389163
HS3ST2 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 0.387776
ABLIM1 actin binding LIM protein 1 0.386464
NDUFB7 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa 0.385653
MTMR6 myotubularin related protein 6 0.384611
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme 0.38429
ATP9A ATPase, class II, type 9A 0.383459
FAM118A family with sequence similarity 118, member A 0.383003
SMC1B structural maintenance of chromosomes 1B 0.382861
ADCY9 adenylate cyclase 9 0.382781
C1ORF21 chromosome 1 open reading frame 21 0.382602
PLXDC2 plexin domain containing 2 0.382269
FAM160B1 family with sequence similarity 160, member B1 0.381823
PTPRT protein tyrosine phosphatase, receptor type, T 0.381238
ERICH1 glutamate-rich 1 0.381238
RFC4 replication factor C (activator 1) 4, 37kDa 0.380461
GREM2 gremlin 2, DAN family BMP antagonist 0.379694
STAT4 signal transducer and activator of transcription 4 0.379212
TMEM237 transmembrane protein 237 0.378701
UBR3 ubiquitin protein ligase E3 component n-recognin 3 (putative) 0.378591
LOC400794 uncharacterized LOC400794 0.377124
HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 0.377096
EIF3D eukaryotic translation initiation factor 3, subunit D 0.376594