mask-like facies Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A lack of facial expression often with staring eyes and a slightly open mouth. (Human Phenotype Ontology, HP_0000298)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000298
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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
Funding