aneurysm Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. (Human Phenotype Ontology, HP_0002617)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003279
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Genes

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

Symbol Name
ADAM19 ADAM metallopeptidase domain 19
APOE apolipoprotein E
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CBS cystathionine-beta-synthase
COL1A1 collagen, type I, alpha 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FBN1 fibrillin 1
GJA1 gap junction protein, alpha 1, 43kDa
HSPG2 heparan sulfate proteoglycan 2
KLF15 Kruppel-like factor 15
KLF2 Kruppel-like factor 2
LAMC1 laminin, gamma 1 (formerly LAMB2)
LOX lysyl oxidase
MKL2 MKL/myocardin-like 2
MMP9 matrix metallopeptidase 9
MUS81 MUS81 structure-specific endonuclease subunit
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NTF3 neurotrophin 3
PARVA parvin, alpha
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PKD1 polycystic kidney disease 1 (autosomal dominant)
RUNX1 runt-related transcription factor 1
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SUFU suppressor of fused homolog (Drosophila)
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TSPAN12 tetraspanin 12