| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABO
|
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
|
|
ADARB1
|
adenosine deaminase, RNA-specific, B1
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
APMAP
|
adipocyte plasma membrane associated protein
|
|
ARX
|
aristaless related homeobox
|
|
BCAR4
|
breast cancer anti-estrogen resistance 4 (non-protein coding)
|
|
BCCIP
|
BRCA2 and CDKN1A interacting protein
|
|
BCKDK
|
branched chain ketoacid dehydrogenase kinase
|
|
BCL2L11
|
BCL2-like 11 (apoptosis facilitator)
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
C14ORF1
|
chromosome 14 open reading frame 1
|
|
C19ORF24
|
chromosome 19 open reading frame 24
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CASR
|
calcium-sensing receptor
|
|
CD40LG
|
CD40 ligand
|
|
CD46
|
CD46 molecule, complement regulatory protein
|
|
CHEK2
|
checkpoint kinase 2
|
|
CHSY3
|
chondroitin sulfate synthase 3
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRP
|
C-reactive protein, pentraxin-related
|
|
CSNK2B
|
casein kinase 2, beta polypeptide
|
|
CYCS
|
cytochrome c, somatic
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYS1
|
cystin 1
|
|
DCN
|
decorin
|
|
DDX5
|
DEAD (Asp-Glu-Ala-Asp) box helicase 5
|
|
DDX58
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
|
|
DIO2
|
deiodinase, iodothyronine, type II
|
|
DMD
|
dystrophin
|
|
DUX4
|
double homeobox 4
|
|
ERBB2
|
erb-b2 receptor tyrosine kinase 2
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
ESRRB
|
estrogen-related receptor beta
|
|
ETV4
|
ets variant 4
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F3
|
coagulation factor III (thromboplastin, tissue factor)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
FASA
|
fertility associated sperm antigen
|
|
FBN1
|
fibrillin 1
|
|
FOXL2
|
forkhead box L2
|
|
FTO
|
fat mass and obesity associated
|
|
G6PC2
|
glucose-6-phosphatase, catalytic, 2
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GFAP
|
glial fibrillary acidic protein
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GNAS
|
GNAS complex locus
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
HTT
|
huntingtin
|
|
IFNB1
|
interferon, beta 1, fibroblast
|
|
IFRD1
|
interferon-related developmental regulator 1
|
|
IL33
|
interleukin 33
|
|
IL6
|
interleukin 6
|
|
IQCB1
|
IQ motif containing B1
|
|
ITGB6
|
integrin, beta 6
|
|
KIF5A
|
kinesin family member 5A
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLK15
|
kallikrein-related peptidase 15
|
|
KLK2
|
kallikrein-related peptidase 2
|
|
KLK3
|
kallikrein-related peptidase 3
|
|
KLK4
|
kallikrein-related peptidase 4
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
LAMB3
|
laminin, beta 3
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LAMTOR5
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 5
|
|
LDLR
|
low density lipoprotein receptor
|
|
LIMS3
|
LIM and senescent cell antigen-like domains 3
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
MDM4
|
MDM4, p53 regulator
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEFV
|
Mediterranean fever
|
|
MEIS1
|
Meis homeobox 1
|
|
MICB
|
MHC class I polypeptide-related sequence B
|
|
MIR122
|
microRNA 122
|
|
MIR34A
|
microRNA 34a
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MT-ATP6
|
ATP synthase F0 subunit 6
|
|
MVP
|
major vault protein
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYDGF
|
myeloid-derived growth factor
|
|
NCOR1
|
nuclear receptor corepressor 1
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NFU1
|
NFU1 iron-sulfur cluster scaffold
|
|
NPM1
|
nucleophosmin (nucleolar phosphoprotein B23, numatrin)
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OLFML3
|
olfactomedin-like 3
|
|
PATL1
|
protein associated with topoisomerase II homolog 1 (yeast)
|
|
PAX6
|
paired box 6
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PIN4
|
peptidylprolyl cis/trans isomerase, NIMA-interacting 4
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RB1
|
retinoblastoma 1
|
|
RCBTB1
|
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
SEC14L3
|
SEC14-like 3 (S. cerevisiae)
|
|
SERPINA7
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
|
|
SLC22A2
|
solute carrier family 22 (organic cation transporter), member 2
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
SLC7A5
|
solute carrier family 7 (amino acid transporter light chain, L system), member 5
|
|
SMAD2
|
SMAD family member 2
|
|
SMN1
|
survival of motor neuron 1, telomeric
|
|
SOST
|
sclerostin
|
|
SYK
|
spleen tyrosine kinase
|
|
SYT10
|
synaptotagmin X
|
|
TECTA
|
tectorin alpha
|
|
TG
|
thyroglobulin
|
|
TH
|
tyrosine hydroxylase
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMX2
|
thioredoxin-related transmembrane protein 2
|
|
TP53
|
tumor protein p53
|
|
TRB
|
T cell receptor beta locus
|
|
TRG
|
T cell receptor gamma locus
|
|
TRPC6
|
transient receptor potential cation channel, subfamily C, member 6
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TSC2
|
tuberous sclerosis 2
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
XDH
|
xanthine dehydrogenase
|
