| Symbol |
Name |
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ACTN4
|
actinin, alpha 4
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADCK4
|
aarF domain containing kinase 4
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
AGTR1
|
angiotensin II receptor, type 1
|
|
AGXT
|
alanine-glyoxylate aminotransferase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
APOA1
|
apolipoprotein A-I
|
|
APOE
|
apolipoprotein E
|
|
APOL1
|
apolipoprotein L, 1
|
|
APRT
|
adenine phosphoribosyltransferase
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AVP
|
arginine vasopressin
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
AXIN2
|
axin 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAX
|
BCL2-associated X protein
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCOR
|
BCL6 corepressor
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C1QA
|
complement component 1, q subcomponent, A chain
|
|
C1QB
|
complement component 1, q subcomponent, B chain
|
|
C1QC
|
complement component 1, q subcomponent, C chain
|
|
C1R
|
complement component 1, r subcomponent
|
|
C3
|
complement component 3
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CA2
|
carbonic anhydrase II
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCND2
|
cyclin D2
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD151
|
CD151 molecule (Raph blood group)
|
|
CD2AP
|
CD2-associated protein
|
|
CD96
|
CD96 molecule
|
|
CDC73
|
cell division cycle 73
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CFH
|
complement factor H
|
|
CFHR5
|
complement factor H-related 5
|
|
CFI
|
complement factor I
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHN1
|
chimerin 1
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLDN16
|
claudin 16
|
|
CLDN19
|
claudin 19
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL14A1
|
collagen, type XIV, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ6
|
coenzyme Q6 monooxygenase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX2
|
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX3
|
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CREBBP
|
CREB binding protein
|
|
CRTAP
|
cartilage associated protein
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
DCC
|
DCC netrin 1 receptor
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DIRC2
|
disrupted in renal carcinoma 2
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DSE
|
dermatan sulfate epimerase
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
EP300
|
E1A binding protein p300
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 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
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FERMT1
|
fermitin family member 1
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF20
|
fibroblast growth factor 20
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FLCN
|
folliculin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FNBP4
|
formin binding protein 4
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC2
|
forkhead box C2
|
|
FOXF1
|
forkhead box F1
|
|
FOXI1
|
forkhead box I1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GATA3
|
GATA binding protein 3
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDF2
|
growth differentiation factor 2
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GLA
|
galactosidase, alpha
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLIS2
|
GLIS family zinc finger 2
|
|
GLIS3
|
GLIS family zinc finger 3
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRHPR
|
glyoxylate reductase/hydroxypyruvate reductase
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GSN
|
gelsolin
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HBB
|
hemoglobin, beta
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HIRA
|
histone cell cycle regulator
|
|
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
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HMOX1
|
heme oxygenase 1
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOGA1
|
4-hydroxy-2-oxoglutarate aldolase 1
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IGF2
|
insulin-like growth factor 2
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INSL3
|
insulin-like 3 (Leydig cell)
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
IRF5
|
interferon regulatory factor 5
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGA8
|
integrin, alpha 8
|
|
JAG1
|
jagged 1
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIF1B
|
kinesin family member 1B
|
|
KISS1R
|
KISS1 receptor
|
|
KL
|
klotho
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT17
|
keratin 17, type I
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LDHA
|
lactate dehydrogenase A
|
|
LEMD3
|
LEM domain containing 3
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LHX1
|
LIM homeobox 1
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPN
|
lipase, family member N
|
|
LMNA
|
lamin A/C
|
|
LMNB2
|
lamin B2
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LPIN1
|
lipin 1
|
|
LPIN2
|
lipin 2
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
LYZ
|
lysozyme
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCC
|
mutated in colorectal cancers
|
|
MCPH1
|
microcephalin 1
|
|
MEFV
|
Mediterranean fever
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
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
|
|
MUC1
|
mucin 1, cell surface associated
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO1E
|
myosin IE
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NBN
|
nibrin
|
|
ND1
|
|
|
NEK1
|
NIMA-related kinase 1
|
|
NEK8
|
NIMA-related kinase 8
|
|
NELFA
|
negative elongation factor complex member A
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OGG1
|
8-oxoguanine DNA glycosylase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX1
|
paired box 1
|
|
PAX2
|
paired box 2
|
|
PC
|
pyruvate carboxylase
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PCK2
|
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDGFRL
|
platelet-derived growth factor receptor-like
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 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
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLCD1
|
phospholipase C, delta 1
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLG
|
plasminogen
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRCC
|
papillary renal cell carcinoma (translocation-associated)
|
|
PRDM16
|
PR domain containing 16
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRKCD
|
protein kinase C, delta
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRTN3
|
proteinase 3
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN12
|
protein tyrosine phosphatase, non-receptor type 12
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPRJ
|
protein tyrosine phosphatase, receptor type, J
|
|
PTPRO
|
protein tyrosine phosphatase, receptor type, O
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAD54B
|
RAD54 homolog B (S. cerevisiae)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RAI1
|
retinoic acid induced 1
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNF139
|
ring finger protein 139
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROBO2
|
roundabout, axon guidance receptor, homolog 2 (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPL11
|
ribosomal protein L11
|
|
RPL26
|
ribosomal protein L26
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RXFP2
|
relaxin/insulin-like family peptide receptor 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
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
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SETBP1
|
SET binding protein 1
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SFTPC
|
surfactant protein C
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SI
|
sucrase-isomaltase (alpha-glucosidase)
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC22A12
|
solute carrier family 22 (organic anion/urate transporter), member 12
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC36A2
|
solute carrier family 36 (proton/amino acid symporter), member 2
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A20
|
solute carrier family 6 (proline IMINO transporter), member 20
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLC7A9
|
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
|
|
SLC9A3R1
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX17
|
SRY (sex determining region Y)-box 17
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STK11
|
serine/threonine kinase 11
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TACR3
|
tachykinin receptor 3
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX15
|
T-box 15
|
|
TBX22
|
T-box 22
|
|
TBX3
|
T-box 3
|
|
TBX6
|
T-box 6
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFE3
|
transcription factor binding to IGHM enhancer 3
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM1
|
transglutaminase 1
|
|
THOC6
|
THO complex 6
|
|
TLR4
|
toll-like receptor 4
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNXB
|
tenascin XB
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRNE
|
|
|
TRPC6
|
transient receptor potential cation channel, subfamily C, member 6
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UMOD
|
uromodulin
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
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)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
XDH
|
xanthine dehydrogenase
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
|
YAP1
|
Yes-associated protein 1
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZIC3
|
Zic family member 3
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF423
|
zinc finger protein 423
|
