| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AR
|
androgen receptor
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARSA
|
arylsulfatase A
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATPAF2
|
ATP synthase mitochondrial F1 complex assembly factor 2
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDC6
|
cell division cycle 6
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLMP
|
CXADR-like membrane protein
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CREBBP
|
CREB binding protein
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CUL4B
|
cullin 4B
|
|
CUL7
|
cullin 7
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EFNB1
|
ephrin-B1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
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
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBLN5
|
fibulin 5
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FERMT1
|
fermitin family member 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FLNA
|
filamin A, alpha
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC1
|
forkhead box C1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC8
|
histone deacetylase 8
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HSD17B3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
HSD3B2
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IFT80
|
intraflagellar transport 80
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF5A
|
kinesin family member 5A
|
|
KIF7
|
kinesin family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MED12
|
mediator complex subunit 12
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MID1
|
midline 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NELFA
|
negative elongation factor complex member A
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OBSL1
|
obscurin-like 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PCNT
|
pericentrin
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PEPD
|
peptidase D
|
|
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
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLEC
|
plectin
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RECQL4
|
RecQ protein-like 4
|
|
REEP1
|
receptor accessory protein 1
|
|
REEP2
|
receptor accessory protein 2
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIN2
|
Ras and Rab interactor 2
|
|
ROBO2
|
roundabout, axon guidance receptor, homolog 2 (Drosophila)
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPL11
|
ribosomal protein L11
|
|
RPL35A
|
ribosomal protein L35a
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RTN2
|
reticulon 2
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SETD5
|
SET domain containing 5
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SKI
|
SKI proto-oncogene
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
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
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SOX17
|
SRY (sex determining region Y)-box 17
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRY
|
sex determining region Y
|
|
STAMBP
|
STAM binding protein
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TBX1
|
T-box 1
|
|
TBX22
|
T-box 22
|
|
TCTN2
|
tectonic family member 2
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTR
|
transthyretin
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPB1
|
ureidopropionase, beta
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VAMP7
|
vesicle-associated membrane protein 7
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VANGL2
|
VANGL planar cell polarity protein 2
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZIC3
|
Zic family member 3
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF592
|
zinc finger protein 592
|
