| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACE
|
angiotensin I converting enzyme
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 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
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
APOA1
|
apolipoprotein A-I
|
|
APOE
|
apolipoprotein E
|
|
APRT
|
adenine phosphoribosyltransferase
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATP6V0A4
|
ATPase, H+ transporting, lysosomal V0 subunit a4
|
|
ATP6V1B1
|
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
AVP
|
arginine vasopressin
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
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
|
|
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
|
|
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
|
|
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
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD151
|
CD151 molecule (Raph blood group)
|
|
CD2AP
|
CD2-associated protein
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
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
|
|
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
|
|
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
|
|
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
|
|
CTGF
|
connective tissue growth factor
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
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
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FGA
|
fibrinogen alpha chain
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FN1
|
fibronectin 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXI1
|
forkhead box I1
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
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
|
|
GLA
|
galactosidase, alpha
|
|
GLIS2
|
GLIS family zinc finger 2
|
|
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
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HIC1
|
hypermethylated in cancer 1
|
|
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
|
|
HMOX1
|
heme oxygenase 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA13
|
homeobox A13
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
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
|
|
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
|
|
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
|
|
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)
|
|
JAG1
|
jagged 1
|
|
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
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KL
|
klotho
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LCAT
|
lecithin-cholesterol acyltransferase
|
|
LDHA
|
lactate dehydrogenase A
|
|
LHX1
|
LIM homeobox 1
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPN
|
lipase, family member N
|
|
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
|
|
LYZ
|
lysozyme
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MEFV
|
Mediterranean fever
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
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
|
|
ND1
|
|
|
NEK8
|
NIMA-related kinase 8
|
|
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
|
|
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)
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX2
|
paired box 2
|
|
PC
|
pyruvate carboxylase
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLG
|
plasminogen
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
POU6F2
|
POU class 6 homeobox 2
|
|
PRKCD
|
protein kinase C, delta
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRTN3
|
proteinase 3
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPRO
|
protein tyrosine phosphatase, receptor type, O
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
REN
|
renin
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
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
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
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
|
|
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
|
|
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
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TBL2
|
transducin (beta)-like 2
|
|
TGM1
|
transglutaminase 1
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRNE
|
|
|
TRPC6
|
transient receptor potential cation channel, subfamily C, member 6
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UMOD
|
uromodulin
|
|
UMPS
|
uridine monophosphate synthetase
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
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
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR60
|
WD repeat domain 60
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
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
|
|
ZNF423
|
zinc finger protein 423
|
