pericardial effusion Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. (Human Disease Ontology, DOID_118)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005312
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Genes

92 gene mutations causing the pericardial effusion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
ADM adrenomedullin
AKAP13 A kinase (PRKA) anchor protein 13
ANKRD17 ankyrin repeat domain 17
ARID1A AT rich interactive domain 1A (SWI-like)
BRAF B-Raf proto-oncogene, serine/threonine kinase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CCM2 cerebral cavernous malformation 2
CXADR coxsackie virus and adenovirus receptor
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DAAM1 dishevelled associated activator of morphogenesis 1
DLL4 delta-like 4 (Drosophila)
ECE1 endothelin converting enzyme 1
ENG endoglin
EP300 E1A binding protein p300
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
F2 coagulation factor II (thrombin)
F2R coagulation factor II (thrombin) receptor
FBN1 fibrillin 1
FHOD3 formin homology 2 domain containing 3
FLT4 fms-related tyrosine kinase 4
FOXO1 forkhead box O1
GAB1 GRB2-associated binding protein 1
GLMN glomulin, FKBP associated protein
GLRX3 glutaredoxin 3
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HDAC7 histone deacetylase 7
HEG1 heart development protein with EGF-like domains 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HOPX HOP homeobox
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPG2 heparan sulfate proteoglycan 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB8 integrin, beta 8
JUP junction plakoglobin
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KIF3A kinesin family member 3A
KMT2B lysine (K)-specific methyltransferase 2B
LATS2 large tumor suppressor kinase 2
LPAR4 lysophosphatidic acid receptor 4
MB myoglobin
MED1 mediator complex subunit 1
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MKS1 Meckel syndrome, type 1
MUS81 MUS81 structure-specific endonuclease subunit
MYO18B myosin XVIIIB
MYOCD myocardin
NACA nascent polypeptide-associated complex alpha subunit
NCOA6 nuclear receptor coactivator 6
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NOTCH2 notch 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
PARVA parvin, alpha
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKP2 plakophilin 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
QKI QKI, KH domain containing, RNA binding
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RHEB Ras homolog enriched in brain
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
RUNX1 runt-related transcription factor 1
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SETD2 SET domain containing 2
SOS1 son of sevenless homolog 1 (Drosophila)
T T, brachyury homolog (mouse)
TBX5 T-box 5
TCF21 transcription factor 21
TDG thymine-DNA glycosylase
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TFRC transferrin receptor
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM100 transmembrane protein 100
TMOD1 tropomodulin 1
TMSB4X thymosin beta 4, X-linked
TNNT2 troponin T type 2 (cardiac)
TSC1 tuberous sclerosis 1
TTN titin
UBE4B ubiquitination factor E4B
UBR5 ubiquitin protein ligase E3 component n-recognin 5
VCAM1 vascular cell adhesion molecule 1
WASF2 WAS protein family, member 2
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase