abnormal pericardium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the fibroserous membrane covering the heart and beginning of the great vessels (Mammalian Phenotype Ontology, MP_0000288)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000288
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Genes

215 gene mutations causing the abnormal pericardium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI1 abl-interactor 1
ACVRL1 activin A receptor type II-like 1
ADAM10 ADAM metallopeptidase domain 10
ADGRG6 adhesion G protein-coupled receptor G6
ADM adrenomedullin
ADRBK1 adrenergic, beta, receptor kinase 1
AGO2 argonaute RISC catalytic component 2
AIP aryl hydrocarbon receptor interacting protein
AKAP13 A kinase (PRKA) anchor protein 13
ANKRD17 ankyrin repeat domain 17
APH1A APH1A gamma secretase subunit
ARID1A AT rich interactive domain 1A (SWI-like)
AXIN1 axin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
C2CD3 C2 calcium-dependent domain containing 3
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CCDC160 coiled-coil domain containing 160
CCM2 cerebral cavernous malformation 2
CD36 CD36 molecule (thrombospondin receptor)
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDH5 cadherin 5, type 2 (vascular endothelium)
CEP41 centrosomal protein 41kDa
CFL1 cofilin 1 (non-muscle)
CFLAR CASP8 and FADD-like apoptosis regulator
CLUAP1 clusterin associated protein 1
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTBP2 C-terminal binding protein 2
CXADR coxsackie virus and adenovirus receptor
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DAAM1 dishevelled associated activator of morphogenesis 1
DES desmin
DISP1 dispatched homolog 1 (Drosophila)
DLL4 delta-like 4 (Drosophila)
DLX3 distal-less homeobox 3
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
ECE1 endothelin converting enzyme 1
EFNB2 ephrin-B2
ENG endoglin
EP300 E1A binding protein p300
EPO erythropoietin
EPOR erythropoietin receptor
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ETV6 ets variant 6
F2 coagulation factor II (thrombin)
F2R coagulation factor II (thrombin) receptor
F3 coagulation factor III (thromboplastin, tissue factor)
FBN1 fibrillin 1
FBXL5 F-box and leucine-rich repeat protein 5
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FHOD3 formin homology 2 domain containing 3
FLRT2 fibronectin leucine rich transmembrane protein 2
FLT4 fms-related tyrosine kinase 4
FN1 fibronectin 1
FOSL1 FOS-like antigen 1
FOXH1 forkhead box H1
FOXO1 forkhead box O1
FUZ fuzzy planar cell polarity protein
GAB1 GRB2-associated binding protein 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GLI3 GLI family zinc finger 3
GLMN glomulin, FKBP associated protein
GLRX3 glutaredoxin 3
GNA13 guanine nucleotide binding protein (G protein), alpha 13
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HDAC7 histone deacetylase 7
HEG1 heart development protein with EGF-like domains 1
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
HOPX HOP homeobox
HOXB4 homeobox B4
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPG2 heparan sulfate proteoglycan 2
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INTU inturned planar cell polarity protein
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGAV integrin, alpha V
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB8 integrin, beta 8
JAG1 jagged 1
JARID2 jumonji, AT rich interactive domain 2
JUP junction plakoglobin
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KDM6A lysine (K)-specific demethylase 6A
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KMT2B lysine (K)-specific methyltransferase 2B
KRAS Kirsten rat sarcoma viral oncogene homolog
LATS2 large tumor suppressor kinase 2
LEMD3 LEM domain containing 3
LMO2 LIM domain only 2 (rhombotin-like 1)
LPAR4 lysophosphatidic acid receptor 4
MAP2K5 mitogen-activated protein kinase kinase 5
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK7 mitogen-activated protein kinase 7
MB myoglobin
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKL1 megakaryoblastic leukemia (translocation) 1
MKL2 MKL/myocardin-like 2
MKS1 Meckel syndrome, type 1
MUS81 MUS81 structure-specific endonuclease subunit
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYL7 myosin, light chain 7, regulatory
MYO18B myosin XVIIIB
MYOCD myocardin
NACA nascent polypeptide-associated complex alpha subunit
NCOA6 nuclear receptor coactivator 6
NCSTN nicastrin
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NOTCH2 notch 2
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR6A1 nuclear receptor subfamily 6, group A, member 1
NRG1 neuregulin 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUMB numb homolog (Drosophila)
NUP133 nucleoporin 133kDa
OSR1 odd-skipped related transciption factor 1
PARVA parvin, alpha
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPN podoplanin
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
PNPLA6 patatin-like phospholipase domain containing 6
POFUT1 protein O-fucosyltransferase 1
POR P450 (cytochrome) oxidoreductase
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRB protein tyrosine phosphatase, receptor type, B
PTPRJ protein tyrosine phosphatase, receptor type, J
QKI QKI, KH domain containing, RNA binding
RAD51D RAD51 paralog D
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RASIP1 Ras interacting protein 1
RB1 retinoblastoma 1
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RHEB Ras homolog enriched in brain
RNF7 ring finger protein 7
RPGRIP1L RPGRIP1-like
RSPO3 R-spondin 3
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
RUNX1 runt-related transcription factor 1
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
S1PR1 sphingosine-1-phosphate receptor 1
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SETD2 SET domain containing 2
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHOX2 short stature homeobox 2
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD1 SMAD family member 1
SMN1 survival of motor neuron 1, telomeric
SMO smoothened, frizzled class receptor
SOS1 son of sevenless homolog 1 (Drosophila)
SOX7 SRY (sex determining region Y)-box 7
SPEG SPEG complex locus
SPINT1 serine peptidase inhibitor, Kunitz type 1
T T, brachyury homolog (mouse)
TAL1 T-cell acute lymphocytic leukemia 1
TBX18 T-box 18
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TBX5 T-box 5
TCEA1 transcription elongation factor A (SII), 1
TCF21 transcription factor 21
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TDG thymine-DNA glycosylase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
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)
TGFBR3 transforming growth factor, beta receptor III
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
UBP1 upstream binding protein 1 (LBP-1a)
UBR5 ubiquitin protein ligase E3 component n-recognin 5
VCAM1 vascular cell adhesion molecule 1
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
XBP1 X-box binding protein 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZFP36L1 ZFP36 ring finger protein-like 1
ZFPM1 zinc finger protein, FOG family member 1
ZFPM2 zinc finger protein, FOG family member 2