| Symbol |
Name |
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ABCG8
|
ATP-binding cassette, sub-family G (WHITE), member 8
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ADK
|
adenosine kinase
|
|
AIRE
|
autoimmune regulator
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
APOA1
|
apolipoprotein A-I
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSA
|
arylsulfatase A
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
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
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BLVRA
|
biliverdin reductase A
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BPGM
|
2,3-bisphosphoglycerate mutase
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C15ORF41
|
chromosome 15 open reading frame 41
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDAN1
|
codanin 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CIRH1A
|
cirrhosis, autosomal recessive 1A (cirhin)
|
|
CLDN1
|
claudin 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
ELN
|
elastin
|
|
ENG
|
endoglin
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
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
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FECH
|
ferrochelatase
|
|
FGA
|
fibrinogen alpha chain
|
|
FH
|
fumarate hydratase
|
|
FOXF1
|
forkhead box F1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
G6PD
|
glucose-6-phosphate dehydrogenase
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALK1
|
galactokinase 1
|
|
GATA6
|
GATA binding protein 6
|
|
GBA
|
glucosidase, beta, acid
|
|
GDF2
|
growth differentiation factor 2
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GLIS3
|
GLIS family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBB
|
hemoglobin, beta
|
|
HBG2
|
hemoglobin, gamma G
|
|
HIRA
|
histone cell cycle regulator
|
|
HK1
|
hexokinase 1
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXD13
|
homeobox D13
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INSR
|
insulin receptor
|
|
JAG1
|
jagged 1
|
|
JAK2
|
Janus kinase 2
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT18
|
keratin 18, type I
|
|
KRT8
|
keratin 8, type II
|
|
LBR
|
lamin B receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LPL
|
lipoprotein lipase
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
LYZ
|
lysozyme
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
NELFA
|
negative elongation factor complex member A
|
|
NOTCH2
|
notch 2
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
OCLN
|
occludin
|
|
PEPD
|
peptidase D
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PFKM
|
phosphofructokinase, muscle
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PIEZO1
|
piezo-type mechanosensitive ion channel component 1
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMC
|
proopiomelanocortin
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PTPN3
|
protein tyrosine phosphatase, non-receptor type 3
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFX6
|
regulatory factor X, 6
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RHAG
|
Rh-associated glycoprotein
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SLCO1B3
|
solute carrier organic anion transporter family, member 1B3
|
|
SMAD4
|
SMAD family member 4
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SPTB
|
spectrin, beta, erythrocytic
|
|
STK11
|
serine/threonine kinase 11
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TJP2
|
tight junction protein 2
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM67
|
transmembrane protein 67
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
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)
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UROS
|
uroporphyrinogen III synthase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
