| Symbol |
Name |
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ANO5
|
anoctamin 5
|
|
APC
|
adenomatous polyposis coli
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CAV3
|
caveolin 3
|
|
CCDC78
|
coiled-coil domain containing 78
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
DMD
|
dystrophin
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DOLK
|
dolichol kinase
|
|
ENO3
|
enolase 3 (beta, muscle)
|
|
FKRP
|
fukutin related protein
|
|
FMR1
|
fragile X mental retardation 1
|
|
GLA
|
galactosidase, alpha
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
LBR
|
lamin B receptor
|
|
LDHA
|
lactate dehydrogenase A
|
|
LEMD3
|
LEM domain containing 3
|
|
LMNA
|
lamin A/C
|
|
LPIN1
|
lipin 1
|
|
LPIN2
|
lipin 2
|
|
MEFV
|
Mediterranean fever
|
|
MLX
|
MLX, MAX dimerization protein
|
|
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-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MVK
|
mevalonate kinase
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
ND1
|
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
PRDM5
|
PR domain containing 5
|
|
PRTN3
|
proteinase 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STIM1
|
stromal interaction molecule 1
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM173
|
transmembrane protein 173
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNXB
|
tenascin XB
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRNE
|
|
|
ZNF469
|
zinc finger protein 469
|
