| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTB
|
actin, beta
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AR
|
androgen receptor
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARX
|
aristaless related homeobox
|
|
ASCC1
|
activating signal cointegrator 1 complex subunit 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CBS
|
cystathionine-beta-synthase
|
|
CDC6
|
cell division cycle 6
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHCHD10
|
coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
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)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTHRC1
|
collagen triple helix repeat containing 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD2
|
DDHD domain containing 2
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
EFTUD2
|
elongation factor Tu GTP binding domain containing 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
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
|
|
FBN2
|
fibrillin 2
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FERMT1
|
fermitin family member 1
|
|
FGF20
|
fibroblast growth factor 20
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FH
|
fumarate hydratase
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FOXF1
|
forkhead box F1
|
|
FOXG1
|
forkhead box G1
|
|
FTL
|
ferritin, light polypeptide
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDF2
|
growth differentiation factor 2
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HOXD13
|
homeobox D13
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IRX5
|
iroquois homeobox 5
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGA8
|
integrin, alpha 8
|
|
ITGB4
|
integrin, beta 4
|
|
JAK2
|
Janus kinase 2
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KIAA2022
|
KIAA2022
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KRT18
|
keratin 18, type I
|
|
KRT8
|
keratin 8, type II
|
|
LAMA3
|
laminin, alpha 3
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMNB1
|
lamin B1
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MAPT
|
microtubule-associated protein tau
|
|
MATR3
|
matrin 3
|
|
MCEE
|
methylmalonyl CoA epimerase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED17
|
mediator complex subunit 17
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MID1
|
midline 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MPZ
|
myelin protein zero
|
|
MSR1
|
macrophage scavenger receptor 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
MYOT
|
myotilin
|
|
NALCN
|
sodium leak channel, non selective
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NEB
|
nebulin
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH1
|
notch 1
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NRXN1
|
neurexin 1
|
|
NUP62
|
nucleoporin 62kDa
|
|
OPTN
|
optineurin
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PANK2
|
pantothenate kinase 2
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PFN1
|
profilin 1
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
REEP1
|
receptor accessory protein 1
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPN1
|
selenoprotein N, 1
|
|
SETX
|
senataxin
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A3
|
solute carrier family 6 (neurotransmitter transporter), member 3
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
STK11
|
serine/threonine kinase 11
|
|
SYT14
|
synaptotagmin XIV
|
|
TARDBP
|
TAR DNA binding protein
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TCF4
|
transcription factor 4
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TPM3
|
tropomyosin 3
|
|
TSPYL1
|
TSPY-like 1
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZIC3
|
Zic family member 3
|
