| Symbol |
Name |
|
ABCA5
|
ATP-binding cassette, sub-family A (ABC1), member 5
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
APCDD1
|
adenomatosis polyposis coli down-regulated 1
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
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
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CDON
|
cell adhesion associated, oncogene regulated
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX3
|
|
|
CTSC
|
cathepsin C
|
|
DSG4
|
desmoglein 4
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GHR
|
growth hormone receptor
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
HDAC8
|
histone deacetylase 8
|
|
HFE
|
hemochromatosis
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT27
|
intraflagellar transport 27
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
INSR
|
insulin receptor
|
|
IRF6
|
interferon regulatory factor 6
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT10
|
keratin 10, type I
|
|
LEMD3
|
LEM domain containing 3
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LMNB2
|
lamin B2
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
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-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
ND1
|
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
PAX3
|
paired box 3
|
|
PEPD
|
peptidase D
|
|
PHF8
|
PHD finger protein 8
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RPL21
|
ribosomal protein L21
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
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
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SETBP1
|
SET binding protein 1
|
|
SETD5
|
SET domain containing 5
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SKI
|
SKI proto-oncogene
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
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
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNRPE
|
small nuclear ribonucleoprotein polypeptide E
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SURF1
|
surfeit 1
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNXB
|
tenascin XB
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTI2
|
TELO2 interacting protein 2
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
UROS
|
uroporphyrinogen III synthase
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZIC2
|
Zic family member 2
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
