| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCA3
|
ATP-binding cassette, sub-family A (ABC1), member 3
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACVR1
|
activin A receptor, type I
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADCY6
|
adenylate cyclase 6
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGK
|
acylglycerol kinase
|
|
AGRN
|
agrin
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ARMC4
|
armadillo repeat containing 4
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASCL1
|
achaete-scute family bHLH transcription factor 1
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BIN1
|
bridging integrator 1
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BOLA3
|
bolA family member 3
|
|
BTD
|
biotinidase
|
|
C21ORF59
|
chromosome 21 open reading frame 59
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC114
|
coiled-coil domain containing 114
|
|
CCDC65
|
coiled-coil domain containing 65
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CDC6
|
cell division cycle 6
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CNTN1
|
contactin 1
|
|
CNTNAP1
|
contactin associated protein 1
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CRYAB
|
crystallin, alpha B
|
|
CSF2RB
|
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTSD
|
cathepsin D
|
|
CUL7
|
cullin 7
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DCTN1
|
dynactin 1
|
|
DES
|
desmin
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAAF5
|
dynein, axonemal, assembly factor 5
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DSC2
|
desmocollin 2
|
|
DST
|
dystonin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EDN3
|
endothelin 3
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EIF2AK4
|
eukaryotic translation initiation factor 2 alpha kinase 4
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ENG
|
endoglin
|
|
EPOR
|
erythropoietin receptor
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
ERF
|
Ets2 repressor factor
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EXOSC3
|
exosome component 3
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLNC
|
filamin C, gamma
|
|
FOXF1
|
forkhead box F1
|
|
FOXI1
|
forkhead box I1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GAA
|
glucosidase, alpha; acid
|
|
GATA2
|
GATA binding protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GLA
|
galactosidase, alpha
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
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
|
|
HBB
|
hemoglobin, beta
|
|
HCCS
|
holocytochrome c synthase
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYDIN
|
HYDIN, axonemal central pair apparatus protein
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT80
|
intraflagellar transport 80
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
INVS
|
inversin
|
|
IRF5
|
interferon regulatory factor 5
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
JAK2
|
Janus kinase 2
|
|
JPH2
|
junctophilin 2
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KLHL41
|
kelch-like family member 41
|
|
KRT14
|
keratin 14, type I
|
|
KRT16
|
keratin 16, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT5
|
keratin 5, type II
|
|
KRT6A
|
keratin 6A, type II
|
|
KRT6B
|
keratin 6B, type II
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMA3
|
laminin, alpha 3
|
|
LBR
|
lamin B receptor
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LIAS
|
lipoic acid synthetase
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMNA
|
lamin A/C
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRC6
|
leucine rich repeat containing 6
|
|
LYRM4
|
LYR motif containing 4
|
|
LYRM7
|
LYR motif containing 7
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MATR3
|
matrin 3
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCCC2
|
methylcrotonoyl-CoA carboxylase 2 (beta)
|
|
MCM4
|
minichromosome maintenance complex component 4
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MRPL3
|
mitochondrial ribosomal protein L3
|
|
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
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NBN
|
nibrin
|
|
ND1
|
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEB
|
nebulin
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NFU1
|
NFU1 iron-sulfur cluster scaffold
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
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
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIP5K1C
|
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRX1
|
paired related homeobox 1
|
|
PRTN3
|
proteinase 3
|
|
PSAP
|
prosaposin
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RUNX2
|
runt-related transcription factor 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPN1
|
selenoprotein N, 1
|
|
SEPT9
|
septin 9
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SFTPA2
|
surfactant protein A2
|
|
SFTPB
|
surfactant protein B
|
|
SFTPC
|
surfactant protein C
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC25A3
|
solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC34A2
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SMAD4
|
SMAD family member 4
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAG1
|
sperm associated antigen 1
|
|
SPEG
|
SPEG complex locus
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SURF1
|
surfeit 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM70
|
transmembrane protein 70
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TNPO3
|
transportin 3
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPM3
|
tropomyosin 3
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TSPYL1
|
TSPY-like 1
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
VCL
|
vinculin
|
|
VRK1
|
vaccinia related kinase 1
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZMYND10
|
zinc finger, MYND-type containing 10
|
