| Symbol |
Name |
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ACVR2A
|
activin A receptor, type IIA
|
|
AK2
|
adenylate kinase 2
|
|
APC
|
adenomatous polyposis coli
|
|
AR
|
androgen receptor
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATXN2
|
ataxin 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
CADM1
|
cell adhesion molecule 1
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCM2
|
cerebral cavernous malformation 2
|
|
CDHR1
|
cadherin-related family member 1
|
|
CEBPA
|
CCAAT/enhancer binding protein (C/EBP), alpha
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
CTNNA1
|
catenin (cadherin-associated protein), alpha 1, 102kDa
|
|
CTNNA3
|
catenin (cadherin-associated protein), alpha 3
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DUSP22
|
dual specificity phosphatase 22
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ETV6
|
ets variant 6
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FHIT
|
fragile histidine triad
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GATA2
|
GATA binding protein 2
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HLA-E
|
major histocompatibility complex, class I, E
|
|
HNF1A
|
HNF1 homeobox A
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IKZF1
|
IKAROS family zinc finger 1 (Ikaros)
|
|
INSR
|
insulin receptor
|
|
JAK2
|
Janus kinase 2
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
LAMA1
|
laminin, alpha 1
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMO2
|
LIM domain only 2 (rhombotin-like 1)
|
|
LPL
|
lipoprotein lipase
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MEST
|
mesoderm specific transcript
|
|
MIR15A
|
microRNA 15a
|
|
MIR16-1
|
microRNA 16-1
|
|
MLH1
|
mutL homolog 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MTOR
|
mechanistic target of rapamycin (serine/threonine kinase)
|
|
MUTYH
|
mutY homolog
|
|
MYSM1
|
Myb-like, SWIRM and MPN domains 1
|
|
NEWENTRY
|
Record to support submission of GeneRIFs for a gene not in Gene (human; man).
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NRXN1
|
neurexin 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCNT
|
pericentrin
|
|
PDCD10
|
programmed cell death 10
|
|
PGM3
|
phosphoglucomutase 3
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PLA2G5
|
phospholipase A2, group V
|
|
PLAGL1
|
pleiomorphic adenoma gene-like 1
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PPP1R9A
|
protein phosphatase 1, regulatory subunit 9A
|
|
PRDM2
|
PR domain containing 2, with ZNF domain
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PWRN1
|
Prader-Willi region non-protein coding RNA 1
|
|
RAD51C
|
RAD51 paralog C
|
|
RB1
|
retinoblastoma 1
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RSPH1
|
radial spoke head 1 homolog (Chlamydomonas)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
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
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SLC25A38
|
solute carrier family 25, member 38
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A4
|
solute carrier family 6 (neurotransmitter transporter), member 4
|
|
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
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMN2
|
survival of motor neuron 2, centromeric
|
|
STXBP2
|
syntaxin binding protein 2
|
|
TACR3
|
tachykinin receptor 3
|
|
TG
|
thyroglobulin
|
|
TRAF3
|
TNF receptor-associated factor 3
|
|
TRG
|
T cell receptor gamma locus
|
|
TRIM37
|
tripartite motif containing 37
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
WT1
|
Wilms tumor 1
|
|
ZFAT
|
zinc finger and AT hook domain containing
|
