Supravalvular Aortic Stenosis Gene Set
Genes
22 genes associated with the disease Supravalvular Aortic Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ABCG5
|
ATP-binding cassette, sub-family G (WHITE), member 5
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
APOB
|
apolipoprotein B
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
CALCA
|
calcitonin-related polypeptide alpha
|
|
CASQ2
|
calsequestrin 2 (cardiac muscle)
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
ELN
|
elastin
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
LDLR
|
low density lipoprotein receptor
|
|
LDLRAP1
|
low density lipoprotein receptor adaptor protein 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
MLXIPL
|
MLX interacting protein-like
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDLIM1
|
PDZ and LIM domain 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
TBL2
|
transducin (beta)-like 2
|
