mask-like facies Gene Set
Genes
36 genes associated with the mask-like facies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Symbol |
Name |
ACTA1
|
actin, alpha 1, skeletal muscle
|
ATP13A2
|
ATPase type 13A2
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
COX1
|
|
COX2
|
|
COX3
|
|
DCTN1
|
dynactin 1
|
DMPK
|
dystrophia myotonica-protein kinase
|
DUX4
|
double homeobox 4
|
FMR1
|
fragile X mental retardation 1
|
FRG1
|
FSHD region gene 1
|
HSPG2
|
heparan sulfate proteoglycan 2
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
MAMLD1
|
mastermind-like domain containing 1
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
MT-TF
|
tRNA
|
MT-TH
|
tRNA
|
MT-TL1
|
tRNA
|
MT-TQ
|
tRNA
|
MT-TS1
|
tRNA
|
MT-TS2
|
tRNA
|
MT-TW
|
tRNA
|
MTM1
|
myotubularin 1
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
ND1
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
PAX6
|
paired box 6
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
TH
|
tyrosine hydroxylase
|
TRIM32
|
tripartite motif containing 32
|