| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB1
|
ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
|
ABCB9
|
ATP-binding cassette, sub-family B (MDR/TAP), member 9
|
|
ABCC1
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 1
|
|
ABCC4
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 4
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCE1
|
ATP-binding cassette, sub-family E (OABP), member 1
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACER3
|
alkaline ceramidase 3
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ACO1
|
aconitase 1, soluble
|
|
ACOT13
|
acyl-CoA thioesterase 13
|
|
ACOT8
|
acyl-CoA thioesterase 8
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACYP1
|
acylphosphatase 1, erythrocyte (common) type
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMY1A
|
amylase, alpha 1A (salivary)
|
|
APOA5
|
apolipoprotein A-V
|
|
APOB
|
apolipoprotein B
|
|
APOC2
|
apolipoprotein C-II
|
|
APOE
|
apolipoprotein E
|
|
ARG1
|
arginase 1
|
|
ARHGAP1
|
Rho GTPase activating protein 1
|
|
ARHGAP44
|
Rho GTPase activating protein 44
|
|
ASPA
|
aspartoacylase
|
|
ATL1
|
atlastin GTPase 1
|
|
ATL2
|
atlastin GTPase 2
|
|
ATP5A1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
|
|
ATP5B
|
ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide
|
|
ATP5C1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BAG1
|
BCL2-associated athanogene
|
|
BAX
|
BCL2-associated X protein
|
|
BCHE
|
butyrylcholinesterase
|
|
BCL11B
|
B-cell CLL/lymphoma 11B (zinc finger protein)
|
|
BCL2L1
|
BCL2-like 1
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CBS
|
cystathionine-beta-synthase
|
|
CD38
|
CD38 molecule
|
|
CD44
|
CD44 molecule (Indian blood group)
|
|
CDC42
|
cell division cycle 42
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CES1
|
carboxylesterase 1
|
|
CES2
|
carboxylesterase 2
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHIT1
|
chitinase 1 (chitotriosidase)
|
|
CTSH
|
cathepsin H
|
|
CYP2C19
|
cytochrome P450, family 2, subfamily C, polypeptide 19
|
|
CYP2C8
|
cytochrome P450, family 2, subfamily C, polypeptide 8
|
|
CYP2J2
|
cytochrome P450, family 2, subfamily J, polypeptide 2
|
|
DCPS
|
decapping enzyme, scavenger
|
|
DDX58
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DHX58
|
DEXH (Asp-Glu-X-His) box polypeptide 58
|
|
DNM1
|
dynamin 1
|
|
DNM1L
|
dynamin 1-like
|
|
DPEP1
|
dipeptidase 1 (renal)
|
|
EGFR
|
epidermal growth factor receptor
|
|
EIF6
|
eukaryotic translation initiation factor 6
|
|
ELANE
|
elastase, neutrophil expressed
|
|
ELN
|
elastin
|
|
ENPP6
|
ectonucleotide pyrophosphatase/phosphodiesterase 6
|
|
ENTPD1
|
ectonucleoside triphosphate diphosphohydrolase 1
|
|
EPPIN
|
epididymal peptidase inhibitor
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ETF1
|
eukaryotic translation termination factor 1
|
|
F2R
|
coagulation factor II (thrombin) receptor
|
|
F2RL1
|
coagulation factor II (thrombin) receptor-like 1
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
FAAH
|
fatty acid amide hydrolase
|
|
FAF2
|
Fas associated factor family member 2
|
|
FHIT
|
fragile histidine triad
|
|
FTH1
|
ferritin, heavy polypeptide 1
|
|
FTMT
|
ferritin mitochondrial
|
|
FURIN
|
furin (paired basic amino acid cleaving enzyme)
|
|
GALC
|
galactosylceramidase
|
|
GBP1
|
guanylate binding protein 1, interferon-inducible
|
|
GCG
|
glucagon
|
|
GM2A
|
GM2 ganglioside activator
|
|
HDDC3
|
HD domain containing 3
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HPSE
|
heparanase
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSP90AB1
|
heat shock protein 90kDa alpha (cytosolic), class B member 1
|
|
HSPA1A
|
heat shock 70kDa protein 1A
|
|
HSPA4
|
heat shock 70kDa protein 4
|
|
HYAL1
|
hyaluronoglucosaminidase 1
|
|
ICT1
|
immature colon carcinoma transcript 1
|
|
IDE
|
insulin-degrading enzyme
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFNG
|
interferon, gamma
|
|
IQGAP1
|
IQ motif containing GTPase activating protein 1
|
|
KATNA1
|
katanin p60 (ATPase containing) subunit A 1
|
|
KIF11
|
kinesin family member 11
|
|
KIF5B
|
kinesin family member 5B
|
|
KLHL14
|
kelch-like family member 14
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
LARS
|
leucyl-tRNA synthetase
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LIPC
|
lipase, hepatic
|
|
LIPE
|
lipase, hormone-sensitive
|
|
LIPF
|
lipase, gastric
|
|
LPL
|
lipoprotein lipase
|
|
LRRK2
|
leucine-rich repeat kinase 2
|
|
MFN2
|
mitofusin 2
|
|
MGAM
|
maltase-glucoamylase
|
|
MIR27A
|
microRNA 27a
|
|
MIR27B
|
microRNA 27b
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MPG
|
N-methylpurine-DNA glycosylase
|
|
MYO3A
|
myosin IIIA
|
|
MYO6
|
myosin VI
|
|
MYO9B
|
myosin IXB
|
|
NAMPT
|
nicotinamide phosphoribosyltransferase
|
|
NCEH1
|
neutral cholesterol ester hydrolase 1
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NOX4
|
NADPH oxidase 4
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NTAN1
|
N-terminal asparagine amidase
|
|
NUB1
|
negative regulator of ubiquitin-like proteins 1
|
|
NUDT5
|
nudix (nucleoside diphosphate linked moiety X)-type motif 5
|
|
PARP1
|
poly (ADP-ribose) polymerase 1
|
|
PDE3A
|
phosphodiesterase 3A, cGMP-inhibited
|
|
PDE4A
|
phosphodiesterase 4A, cAMP-specific
|
|
PDE4B
|
phosphodiesterase 4B, cAMP-specific
|
|
PDE5A
|
phosphodiesterase 5A, cGMP-specific
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PIF1
|
PIF1 5'-to-3' DNA helicase
|
|
PLA2G10
|
phospholipase A2, group X
|
|
PLA2G2A
|
phospholipase A2, group IIA (platelets, synovial fluid)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLA2G7
|
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLCZ1
|
phospholipase C, zeta 1
|
|
PLIN3
|
perilipin 3
|
|
PLIN5
|
perilipin 5
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA3
|
patatin-like phospholipase domain containing 3
|
|
PNPLA4
|
patatin-like phospholipase domain containing 4
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
PON1
|
paraoxonase 1
|
|
PON2
|
paraoxonase 2
|
|
PON3
|
paraoxonase 3
|
|
PPARD
|
peroxisome proliferator-activated receptor delta
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP2R4
|
protein phosphatase 2A activator, regulatory subunit 4
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PRDX1
|
peroxiredoxin 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB11B
|
RAB11B, member RAS oncogene family
|
|
RAB4A
|
RAB4A, member RAS oncogene family
|
|
RAB5A
|
RAB5A, member RAS oncogene family
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RAD51
|
RAD51 recombinase
|
|
RAP1GAP
|
RAP1 GTPase activating protein
|
|
RASA3
|
RAS p21 protein activator 3
|
|
RECQL5
|
RecQ protein-like 5
|
|
RHEB
|
Ras homolog enriched in brain
|
|
RHO
|
rhodopsin
|
|
RHOQ
|
ras homolog family member Q
|
|
RNASE1
|
ribonuclease, RNase A family, 1 (pancreatic)
|
|
RNASEH1
|
ribonuclease H1
|
|
RUVBL2
|
RuvB-like AAA ATPase 2
|
|
SACS
|
sacsin molecular chaperone
|
|
SAR1A
|
secretion associated, Ras related GTPase 1A
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SPAST
|
spastin
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SRXN1
|
sulfiredoxin 1
|
|
STIP1
|
stress-induced phosphoprotein 1
|
|
TAP1
|
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TAP2
|
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
|
|
TDP1
|
tyrosyl-DNA phosphodiesterase 1
|
|
TFRC
|
transferrin receptor
|
|
TIMP1
|
TIMP metallopeptidase inhibitor 1
|
|
TLN1
|
talin 1
|
|
TMPRSS15
|
transmembrane protease, serine 15
|
|
TNF
|
tumor necrosis factor
|
|
TOP2A
|
topoisomerase (DNA) II alpha 170kDa
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TREX2
|
three prime repair exonuclease 2
|
|
TRPC6
|
transient receptor potential cation channel, subfamily C, member 6
|
|
TRPM4
|
transient receptor potential cation channel, subfamily M, member 4
|
|
TRPM6
|
transient receptor potential cation channel, subfamily M, member 6
|
|
TUB
|
tubby bipartite transcription factor
|
|
UPF1
|
UPF1 regulator of nonsense transcripts homolog (yeast)
|
|
VCP
|
valosin containing protein
|
|
VPS4A
|
vacuolar protein sorting 4 homolog A (S. cerevisiae)
|
|
VPS4B
|
vacuolar protein sorting 4 homolog B (S. cerevisiae)
|
|
VTA1
|
vesicle (multivesicular body) trafficking 1
|
