respiratory failure Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A lung disease characterized by inadequate gas exchange by the respiratory system. (Human Disease Ontology, DOID_11162)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001953
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Genes

147 gene mutations causing the respiratory failure phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACAN aggrecan
ADAM17 ADAM metallopeptidase domain 17
ADRA2B adrenoceptor alpha 2B
ATF2 activating transcription factor 2
ATOH1 atonal homolog 1 (Drosophila)
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
BAG6 BCL2-associated athanogene 6
BMPER BMP binding endothelial regulator
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CADPS Ca++-dependent secretion activator
CAPRIN1 cell cycle associated protein 1
CARM1 coactivator-associated arginine methyltransferase 1
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CLCN7 chloride channel, voltage-sensitive 7
CLIP3 CAP-GLY domain containing linker protein 3
CLP1 cleavage and polyadenylation factor I subunit 1
COL11A1 collagen, type XI, alpha 1
COL27A1 collagen, type XXVII, alpha 1
CTGF connective tissue growth factor
CUX1 cut-like homeobox 1
DBX1 developing brain homeobox 1
DHCR7 7-dehydrocholesterol reductase
DPH1 diphthamide biosynthesis 1
ECEL1 endothelin converting enzyme-like 1
EGFR epidermal growth factor receptor
EIF4E2 eukaryotic translation initiation factor 4E family member 2
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
FBXO45 F-box protein 45
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FLNC filamin C, gamma
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FOXM1 forkhead box M1
FST follistatin
GLCE glucuronic acid epimerase
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
HAT1 histone acetyltransferase 1
HELLS helicase, lymphoid-specific
HHIP hedgehog interacting protein
HOXA1 homeobox A1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPG2 heparan sulfate proteoglycan 2
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
IHH indian hedgehog
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INSM1 insulinoma-associated 1
ISL2 ISL LIM homeobox 2
ISPD isoprenoid synthase domain containing
ITGB4 integrin, beta 4
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
KIF1B kinesin family member 1B
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LMNB1 lamin B1
LMNB2 lamin B2
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LYZ lysozyme
MADD MAP-kinase activating death domain
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPK6 mitogen-activated protein kinase 6
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MEG3 maternally expressed 3 (non-protein coding)
MET MET proto-oncogene, receptor tyrosine kinase
MIA3 melanoma inhibitory activity family, member 3
MORF4L1 mortality factor 4 like 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYF5 myogenic factor 5
MYLPF myosin light chain, phosphorylatable, fast skeletal muscle
MYOG myogenin (myogenic factor 4)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NELL1 NEL-like 1 (chicken)
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRG1 neuregulin 1
NUBP1 nucleotide binding protein 1
OLIG3 oligodendrocyte transcription factor 3
PAX6 paired box 6
PBX3 pre-B-cell leukemia homeobox 3
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPN podoplanin
PHF14 PHD finger protein 14
PHOX2B paired-like homeobox 2b
PKDCC protein kinase domain containing, cytoplasmic
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
POLB polymerase (DNA directed), beta
POU3F1 POU class 3 homeobox 1
PRDM16 PR domain containing 16
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIPPLY2 ripply transcriptional repressor 2
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SFN stratifin
SFTPB surfactant protein B
SKOR2 SKI family transcriptional corepressor 2
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SNAP25 synaptosomal-associated protein, 25kDa
SNX5 sorting nexin 5
SOX10 SRY (sex determining region Y)-box 10
SOX5 SRY (sex determining region Y)-box 5
SOX6 SRY (sex determining region Y)-box 6
SP3 Sp3 transcription factor
STIM1 stromal interaction molecule 1
TBCE tubulin folding cofactor E
TBX1 T-box 1
TCF21 transcription factor 21
TCOF1 Treacher Collins-Franceschetti syndrome 1
TH tyrosine hydroxylase
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TLX3 T-cell leukemia homeobox 3
TMEM38B transmembrane protein 38B
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TOP2B topoisomerase (DNA) II beta 180kDa
TRPS1 trichorhinophalangeal syndrome I
UNCX UNC homeobox
WNT5A wingless-type MMTV integration site family, member 5A
WNT7B wingless-type MMTV integration site family, member 7B
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YBX1 Y box binding protein 1
YY1 YY1 transcription factor
ZEB1 zinc finger E-box binding homeobox 1