edema Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. (Human Phenotype Ontology, HP_0000969)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001785
Similar Terms
Downloads & Tools

Genes

347 gene mutations causing the edema phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABI1 abl-interactor 1
ACVR1 activin A receptor, type I
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADGRG6 adhesion G protein-coupled receptor G6
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
ADRBK1 adrenergic, beta, receptor kinase 1
AGO2 argonaute RISC catalytic component 2
AHR aryl hydrocarbon receptor
AIP aryl hydrocarbon receptor interacting protein
ANGPT2 angiopoietin 2
AQP4 aquaporin 4
ARF6 ADP-ribosylation factor 6
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ATE1 arginyltransferase 1
ATMIN ATM interactor
ATP11A ATPase, class VI, type 11A
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
AURKB aurora kinase B
B9D2 B9 protein domain 2
BAG3 BCL2-associated athanogene 3
BAG6 BCL2-associated athanogene 6
BCR breakpoint cluster region
BIRC6 baculoviral IAP repeat containing 6
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1
BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa
C2CD3 C2 calcium-dependent domain containing 3
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CALCRL calcitonin receptor-like
CAV1 caveolin 1, caveolae protein, 22kDa
CBFB core-binding factor, beta subunit
CBX1 chromobox homolog 1
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC134 coiled-coil domain containing 134
CCM2 cerebral cavernous malformation 2
CD14 CD14 molecule
CD151 CD151 molecule (Raph blood group)
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CFL1 cofilin 1 (non-muscle)
CFLAR CASP8 and FADD-like apoptosis regulator
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHTOP chromatin target of PRMT1
CIR1 corepressor interacting with RBPJ, 1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLEC1B C-type lectin domain family 1, member B
CLU clusterin
CLUAP1 clusterin associated protein 1
COX1
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTSA cathepsin A
CXADR coxsackie virus and adenovirus receptor
CXCR4 chemokine (C-X-C motif) receptor 4
CYFIP2 cytoplasmic FMR1 interacting protein 2
DBNL drebrin-like
DISP1 dispatched homolog 1 (Drosophila)
DLL4 delta-like 4 (Drosophila)
DNAH11 dynein, axonemal, heavy chain 11
DNM1L dynamin 1-like
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DOCK1 dedicator of cytokinesis 1
DOT1L DOT1-like histone H3K79 methyltransferase
DPH1 diphthamide biosynthesis 1
DSG4 desmoglein 4
DUSP1 dual specificity phosphatase 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
E2F3 E2F transcription factor 3
ECE1 endothelin converting enzyme 1
EFNB1 ephrin-B1
EGFL7 EGF-like-domain, multiple 7
EHD1 EH-domain containing 1
ENG endoglin
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
EPHA3 EPH receptor A3
EPO erythropoietin
EPOR erythropoietin receptor
ERF Ets2 repressor factor
EZR ezrin
F2R coagulation factor II (thrombin) receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBXL5 F-box and leucine-rich repeat protein 5
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FES FES proto-oncogene, tyrosine kinase
FGF8 fibroblast growth factor 8 (androgen-induced)
FH fumarate hydratase
FKBP1A FK506 binding protein 1A, 12kDa
FKRP fukutin related protein
FLG filaggrin
FLNA filamin A, alpha
FLRT2 fibronectin leucine rich transmembrane protein 2
FLT4 fms-related tyrosine kinase 4
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF2 forkhead box F2
FOXH1 forkhead box H1
FOXM1 forkhead box M1
FOXP1 forkhead box P1
FUZ fuzzy planar cell polarity protein
GALC galactosylceramidase
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GBE1 glucan (1,4-alpha-), branching enzyme 1
GFI1B growth factor independent 1B transcription repressor
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GLDC glycine dehydrogenase (decarboxylating)
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLRB glycine receptor, beta
GNAS GNAS complex locus
GRB2 growth factor receptor-bound protein 2
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHAT hedgehog acyltransferase
HHEX hematopoietically expressed homeobox
HIRA histone cell cycle regulator
HLX H2.0-like homeobox
HMOX1 heme oxygenase 1
HOXA13 homeobox A13
HOXB4 homeobox B4
HPGDS hematopoietic prostaglandin D synthase
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
IGHMBP2 immunoglobulin mu binding protein 2
IL17RA interleukin 17 receptor A
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INTU inturned planar cell polarity protein
ITGAV integrin, alpha V
ITGB4 integrin, beta 4
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KDM6A lysine (K)-specific demethylase 6A
KIAA0586 KIAA0586
KIF1BP KIF1 binding protein
KIF3A kinesin family member 3A
KIF7 kinesin family member 7
KIFAP3 kinesin-associated protein 3
KMT2A lysine (K)-specific methyltransferase 2A
KMT2B lysine (K)-specific methyltransferase 2B
KRAS Kirsten rat sarcoma viral oncogene homolog
LHX2 LIM homeobox 2
LIX1L Lix1 homolog (chicken) like
LPAR4 lysophosphatidic acid receptor 4
LTB4R leukotriene B4 receptor
LTB4R2 leukotriene B4 receptor 2
LZTR1 leucine-zipper-like transcription regulator 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK7 mitogen-activated protein kinase 7
MARCH5 membrane-associated ring finger (C3HC4) 5
MB myoglobin
MECOM MDS1 and EVI1 complex locus
MED31 mediator complex subunit 31
MEGF8 multiple EGF-like-domains 8
MIA3 melanoma inhibitory activity family, member 3
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKL1 megakaryoblastic leukemia (translocation) 1
MKL2 MKL/myocardin-like 2
MKS1 Meckel syndrome, type 1
MME membrane metallo-endopeptidase
MORF4L1 mortality factor 4 like 1
MSI1 musashi RNA-binding protein 1
MTFMT mitochondrial methionyl-tRNA formyltransferase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYL7 myosin, light chain 7, regulatory
MYOG myogenin (myogenic factor 4)
MYSM1 Myb-like, SWIRM and MPN domains 1
NACA nascent polypeptide-associated complex alpha subunit
NCOR1 nuclear receptor corepressor 1
NEK8 NIMA-related kinase 8
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NKX2-5 NK2 homeobox 5
NLRP6 NLR family, pyrin domain containing 6
NODAL nodal growth differentiation factor
NOG noggin
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH2 notch 2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPR1 natriuretic peptide receptor 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR5A2 nuclear receptor subfamily 5, group A, member 2
NT5E 5'-nucleotidase, ecto (CD73)
NTF3 neurotrophin 3
NUMB numb homolog (Drosophila)
NUP133 nucleoporin 133kDa
OED Oregon eye disease
OPA1 optic atrophy 1 (autosomal dominant)
OSR1 odd-skipped related transciption factor 1
PAK1IP1 PAK1 interacting protein 1
PAM peptidylglycine alpha-amidating monooxygenase
PARD3 par-3 family cell polarity regulator
PARVA parvin, alpha
PBX1 pre-B-cell leukemia homeobox 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFC platelet derived growth factor C
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM3 PDZ and LIM domain 3
PDPN podoplanin
PDS5B PDS5 cohesin associated factor B
PECAM1 platelet/endothelial cell adhesion molecule 1
PFKL phosphofructokinase, liver
PHF20 PHD finger protein 20
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD1L1 polycystic kidney disease 1 like 1
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKNOX1 PBX/knotted 1 homeobox 1
PKP2 plakophilin 2
PLA2G3 phospholipase A2, group III
PLVAP plasmalemma vesicle associated protein
PLXNB2 plexin B2
PNN pinin, desmosome associated protein
PNPLA2 patatin-like phospholipase domain containing 2
PODXL podocalyxin-like
POR P450 (cytochrome) oxidoreductase
PPP1R13B protein phosphatase 1, regulatory subunit 13B
PRDM6 PR domain containing 6
PRDX6 peroxiredoxin 6
PROX1 prospero homeobox 1
PSEN1 presenilin 1
PTGDR2 prostaglandin D2 receptor 2
PTGDS prostaglandin D2 synthase 21kDa (brain)
PTGER3 prostaglandin E receptor 3 (subtype EP3)
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGES prostaglandin E synthase
PTGES2 prostaglandin E synthase 2
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN14 protein tyrosine phosphatase, non-receptor type 14
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRB protein tyrosine phosphatase, receptor type, B
RAD23B RAD23 homolog B (S. cerevisiae)
RAD51D RAD51 paralog D
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1
RASA3 RAS p21 protein activator 3
RASIP1 Ras interacting protein 1
RB1 retinoblastoma 1
RB1CC1 RB1-inducible coiled-coil 1
RDH10 retinol dehydrogenase 10 (all-trans)
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase
RICTOR RPTOR independent companion of MTOR, complex 2
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RIPK4 receptor-interacting serine-threonine kinase 4
RNF7 ring finger protein 7
RQCD1 RCD1 required for cell differentiation1 homolog (S. pombe)
RUNX1 runt-related transcription factor 1
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
S1PR1 sphingosine-1-phosphate receptor 1
SC5D sterol-C5-desaturase
SETD2 SET domain containing 2
SHARPIN SHANK-associated RH domain interactor
SHOX2 short stature homeobox 2
SIRT1 sirtuin 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD5 SMAD family member 5
SMAD7 SMAD family member 7
SMO smoothened, frizzled class receptor
SOS1 son of sevenless homolog 1 (Drosophila)
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
SOX4 SRY (sex determining region Y)-box 4
SOX7 SRY (sex determining region Y)-box 7
SPTBN1 spectrin, beta, non-erythrocytic 1
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3
SRSF10 serine/arginine-rich splicing factor 10
SSR1 signal sequence receptor, alpha
SSTR4 somatostatin receptor 4
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
SYK spleen tyrosine kinase
SYMPK symplekin
T T, brachyury homolog (mouse)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TAL1 T-cell acute lymphocytic leukemia 1
TBK1 TANK-binding kinase 1
TBX1 T-box 1
TBX2 T-box 2
TBX20 T-box 20
TBX3 T-box 3
TBX4 T-box 4
TBX5 T-box 5
TBXA2R thromboxane A2 receptor
TCEA1 transcription elongation factor A (SII), 1
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TDG thymine-DNA glycosylase
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLL1 tolloid-like 1
TLR4 toll-like receptor 4
TNS2 tensin 2
TP73 tumor protein p73
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TSC1 tuberous sclerosis 1
TTN titin
TULP3 tubby like protein 3
UBE4B ubiquitination factor E4B
USP1 ubiquitin specific peptidase 1
USP3 ubiquitin specific peptidase 3
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
WASF2 WAS protein family, member 2
WDR35 WD repeat domain 35
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
XPA xeroderma pigmentosum, complementation group A
YBX1 Y box binding protein 1
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5
ZFPM1 zinc finger protein, FOG family member 1
ZFPM2 zinc finger protein, FOG family member 2