| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AGRN
|
agrin
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANO5
|
anoctamin 5
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BIN1
|
bridging integrator 1
|
|
BMS1
|
BMS1 ribosome biogenesis factor
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CA2
|
carbonic anhydrase II
|
|
CAPN3
|
calpain 3, (p94)
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHKB
|
choline kinase beta
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COCH
|
cochlin
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DCTN1
|
dynactin 1
|
|
DES
|
desmin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
EGR2
|
early growth response 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FGF3
|
fibroblast growth factor 3
|
|
FKRP
|
fukutin related protein
|
|
GAN
|
gigaxonin
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HOXB1
|
homeobox B1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
KARS
|
lysyl-tRNA synthetase
|
|
LARGE
|
like-glycosyltransferase
|
|
LMNA
|
lamin A/C
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LYST
|
lysosomal trafficking regulator
|
|
MEFV
|
Mediterranean fever
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MPZ
|
myelin protein zero
|
|
MTM1
|
myotubularin 1
|
|
MTMR2
|
myotubularin related protein 2
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NEB
|
nebulin
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH3
|
notch 3
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRRX1
|
paired related homeobox 1
|
|
PRTN3
|
proteinase 3
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SDHAF2
|
succinate dehydrogenase complex assembly factor 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPN1
|
selenoprotein N, 1
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SNX10
|
sorting nexin 10
|
|
SOST
|
sclerostin
|
|
SPEG
|
SPEG complex locus
|
|
SQSTM1
|
sequestosome 1
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
TAZ
|
tafazzin
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR4
|
toll-like receptor 4
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
VCP
|
valosin containing protein
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
