decreased facial expression Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. (Human Phenotype Ontology, HP_0004673)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004673
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Genes

48 genes associated with the decreased facial expression 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
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CC2D1A coiled-coil and C2 domain containing 1A
COX1
COX2
COX3
DCTN1 dynactin 1
DMPK dystrophia myotonica-protein kinase
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DUX4 double homeobox 4
FMR1 fragile X mental retardation 1
FRG1 FSHD region gene 1
GMPPB GDP-mannose pyrophosphorylase B
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
NEB nebulin
PABPN1 poly(A) binding protein, nuclear 1
PAX6 paired box 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PRNP prion protein
RYR1 ryanodine receptor 1 (skeletal)
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
STAC3 SH3 and cysteine rich domain 3
TAZ tafazzin
TH tyrosine hydroxylase
TPM2 tropomyosin 2 (beta)
TRIM32 tripartite motif containing 32
UBA1 ubiquitin-like modifier activating enzyme 1