| Symbol |
Name |
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
ABCA3
|
ATP-binding cassette, sub-family A (ABC1), member 3
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
APC
|
adenomatous polyposis coli
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ATL1
|
atlastin GTPase 1
|
|
AXIN1
|
axin 1
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CENPJ
|
centromere protein J
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CREBBP
|
CREB binding protein
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTSC
|
cathepsin C
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
DHH
|
desert hedgehog
|
|
DISC2
|
disrupted in schizophrenia 2 (non-protein coding)
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DSG2
|
desmoglein 2
|
|
DSP
|
desmoplakin
|
|
DYSF
|
dysferlin
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EGR2
|
early growth response 2
|
|
ELN
|
elastin
|
|
ENAM
|
enamelin
|
|
ENG
|
endoglin
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FBLN5
|
fibulin 5
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FOXC1
|
forkhead box C1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRMD7
|
FERM domain containing 7
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF6
|
growth differentiation factor 6
|
|
GLRX5
|
glutaredoxin 5
|
|
GPC3
|
glypican 3
|
|
HCRT
|
hypocretin (orexin) neuropeptide precursor
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
IGF2R
|
insulin-like growth factor 2 receptor
|
|
IHH
|
indian hedgehog
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ITGB4
|
integrin, beta 4
|
|
JUP
|
junction plakoglobin
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
KRT16
|
keratin 16, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT81
|
keratin 81, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT86
|
keratin 86, type II
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LMNA
|
lamin A/C
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MET
|
MET proto-oncogene, receptor tyrosine kinase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLPH
|
melanophilin
|
|
MPZ
|
myelin protein zero
|
|
MSX2
|
msh homeobox 2
|
|
MYO7A
|
myosin VIIA
|
|
MYOT
|
myotilin
|
|
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)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PDGFRL
|
platelet-derived growth factor receptor-like
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PMP22
|
peripheral myelin protein 22
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PPM1D
|
protein phosphatase, Mg2+/Mn2+ dependent, 1D
|
|
PRX
|
periaxin
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RB1CC1
|
RB1-inducible coiled-coil 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SFTPB
|
surfactant protein B
|
|
SFTPC
|
surfactant protein C
|
|
SIX3
|
SIX homeobox 3
|
|
SLC22A18
|
solute carrier family 22, member 18
|
|
SLC25A38
|
solute carrier family 25, member 38
|
|
SNAI2
|
snail family zinc finger 2
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPTA1
|
spectrin, alpha, erythrocytic 1
|
|
SQSTM1
|
sequestosome 1
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SURF1
|
surfeit 1
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TP53
|
tumor protein p53
|
|
TPM3
|
tropomyosin 3
|
|
TSG101
|
tumor susceptibility 101
|
|
VSX1
|
visual system homeobox 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WT1
|
Wilms tumor 1
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
