Ethylmalonic Encephalopathy Gene Set
Genes
26 genes associated with the disease Ethylmalonic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ANXA5
|
annexin A5
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BECN1
|
beclin 1, autophagy related
|
|
BNIP3
|
BCL2/adenovirus E1B 19kDa interacting protein 3
|
|
CALB2
|
calbindin 2
|
|
DNM1
|
dynamin 1
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
GRM5
|
glutamate receptor, metabotropic 5
|
|
HBS1L
|
HBS1-like translational GTPase
|
|
IL6
|
interleukin 6
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MYB
|
v-myb avian myeloblastosis viral oncogene homolog
|
|
OXR1
|
oxidation resistance 1
|
|
POSTN
|
periostin, osteoblast specific factor
|
|
SOD2
|
superoxide dismutase 2, mitochondrial
|
|
TNF
|
tumor necrosis factor
|
|
TNK2
|
tyrosine kinase, non-receptor, 2
|
|
TRIM8
|
tripartite motif containing 8
|
|
TRPV1
|
transient receptor potential cation channel, subfamily V, member 1
|
|
TYMP
|
thymidine phosphorylase
|
|
ZNF575
|
zinc finger protein 575
|
