respiratory distress Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001954
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Genes

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

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACAN aggrecan
ACKR3 atypical chemokine receptor 3
ADAM17 ADAM metallopeptidase domain 17
ADGRF5 adhesion G protein-coupled receptor F5
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ASCL1 achaete-scute family bHLH transcription factor 1
BSG basigin (Ok blood group)
CC2D1A coiled-coil and C2 domain containing 1A
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CLEC1B C-type lectin domain family 1, member B
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A2 collagen, type V, alpha 2
CRB3 crumbs family member 3
CRHR1 corticotropin releasing hormone receptor 1
CUL7 cullin 7
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DACH1 dachshund family transcription factor 1
DBT dihydrolipoamide branched chain transacylase E2
DCC DCC netrin 1 receptor
DERL2 derlin 2
DGKD diacylglycerol kinase, delta 130kDa
DISP1 dispatched homolog 1 (Drosophila)
DLG1 discs, large homolog 1 (Drosophila)
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DMRT2 doublesex and mab-3 related transcription factor 2
DNAH5 dynein, axonemal, heavy chain 5
DSCAM Down syndrome cell adhesion molecule
DVL3 dishevelled segment polarity protein 3
E2F3 E2F transcription factor 3
EDNRB endothelin receptor type B
EGFR epidermal growth factor receptor
EGR2 early growth response 2
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
ENG endoglin
EPAS1 endothelial PAS domain protein 1
FBLN1 fibulin 1
FBN1 fibrillin 1
FBXW8 F-box and WD repeat domain containing 8
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FKBP1A FK506 binding protein 1A, 12kDa
FKBP8 FK506 binding protein 8, 38kDa
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FSTL1 follistatin-like 1
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GPR4 G protein-coupled receptor 4
GREM1 gremlin 1, DAN family BMP antagonist
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
HCK HCK proto-oncogene, Src family tyrosine kinase
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HOXA5 homeobox A5
HOXB2 homeobox B2
HOXB4 homeobox B4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IGF2R insulin-like growth factor 2 receptor
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
ITGA9 integrin, alpha 9
JAG2 jagged 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM6A lysine (K)-specific demethylase 6A
KL klotho
LACTB2 lactamase, beta 2
LAMC2 laminin, gamma 2
LDB3 LIM domain binding 3
LPCAT1 lysophosphatidylcholine acyltransferase 1
LTBP4 latent transforming growth factor beta binding protein 4
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN1A2 mannosidase, alpha, class 1A, member 2
MAPK6 mitogen-activated protein kinase 6
MDFI MyoD family inhibitor
MECP2 methyl CpG binding protein 2
MN1 meningioma (disrupted in balanced translocation) 1
MSX1 msh homeobox 1
MTM1 myotubularin 1
MUT methylmalonyl CoA mutase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYF6 myogenic factor 6 (herculin)
NABP2 nucleic acid binding protein 2
NDN necdin, melanoma antigen (MAGE) family member
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEU1 sialidase 1 (lysosomal sialidase)
NFIB nuclear factor I/B
NKX3-2 NK3 homeobox 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PARL presenilin associated, rhomboid-like
PAX3 paired box 3
PAX9 paired box 9
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEX13 peroxisomal biogenesis factor 13
PEX5 peroxisomal biogenesis factor 5
PHF14 PHD finger protein 14
PHOX2A paired-like homeobox 2a
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLAGL1 pleiomorphic adenoma gene-like 1
PRDM16 PR domain containing 16
PROP1 PROP paired-like homeobox 1
PROX1 prospero homeobox 1
PRRX1 paired related homeobox 1
PTGES3 prostaglandin E synthase 3 (cytosolic)
RAPSN receptor-associated protein of the synapse
ROR1 receptor tyrosine kinase-like orphan receptor 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RYR1 ryanodine receptor 1 (skeletal)
SCG5 secretogranin V
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SFN stratifin
SFTPB surfactant protein B
SIM2 single-minded family bHLH transcription factor 2
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SLIT3 slit homolog 3 (Drosophila)
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOX2 SRY (sex determining region Y)-box 2
SOX5 SRY (sex determining region Y)-box 5
SOX6 SRY (sex determining region Y)-box 6
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
STK40 serine/threonine kinase 40
SUCO SUN domain containing ossification factor
SULF2 sulfatase 2
TBX18 T-box 18
TBX22 T-box 22
TCF15 transcription factor 15 (basic helix-loop-helix)
TCF21 transcription factor 21
TCOF1 Treacher Collins-Franceschetti syndrome 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
THRB thyroid hormone receptor, beta
TIMP3 TIMP metallopeptidase inhibitor 3
TLX3 T-cell leukemia homeobox 3
TMEM38B transmembrane protein 38B
TNNI3 troponin I type 3 (cardiac)
TPH1 tryptophan hydroxylase 1
TPP1 tripeptidyl peptidase I
TRPS1 trichorhinophalangeal syndrome I
TSHZ1 teashirt zinc finger homeobox 1
TSHZ3 teashirt zinc finger homeobox 3
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
VEGFA vascular endothelial growth factor A
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5