| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACAT1
|
acetyl-CoA acetyltransferase 1
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN2
|
actinin, alpha 2
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AKAP9
|
A kinase (PRKA) anchor protein 9
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOXE3
|
arachidonate lipoxygenase 3
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ANK2
|
ankyrin 2, neuronal
|
|
ANKS6
|
ankyrin repeat and sterile alpha motif domain containing 6
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC4
|
armadillo repeat containing 4
|
|
ATM
|
ATM serine/threonine kinase
|
|
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
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C21ORF59
|
chromosome 21 open reading frame 59
|
|
CACNA1C
|
calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
CALR3
|
calreticulin 3
|
|
CAV3
|
caveolin 3
|
|
CCDC103
|
coiled-coil domain containing 103
|
|
CCDC114
|
coiled-coil domain containing 114
|
|
CCDC28B
|
coiled-coil domain containing 28B
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCDC65
|
coiled-coil domain containing 65
|
|
CCNO
|
cyclin O
|
|
CDH23
|
cadherin-related 23
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHEK2
|
checkpoint kinase 2
|
|
CLRN1
|
clarin 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, 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
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
CREBBP
|
CREB binding protein
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DNAAF1
|
dynein, axonemal, assembly factor 1
|
|
DNAAF2
|
dynein, axonemal, assembly factor 2
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAAF5
|
dynein, axonemal, assembly factor 5
|
|
DNAH11
|
dynein, axonemal, heavy chain 11
|
|
DNAH5
|
dynein, axonemal, heavy chain 5
|
|
DNAH8
|
dynein, axonemal, heavy chain 8
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAI2
|
dynein, axonemal, intermediate chain 2
|
|
DNAL1
|
dynein, axonemal, light chain 1
|
|
DRC1
|
dynein regulatory complex subunit 1
|
|
DSG4
|
desmoglein 4
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
DYX1C1
|
dyslexia susceptibility 1 candidate 1
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
ENG
|
endoglin
|
|
EP300
|
E1A binding protein p300
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
F2
|
coagulation factor II (thrombin)
|
|
FBN1
|
fibrillin 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FLCN
|
folliculin
|
|
FLNB
|
filamin B, beta
|
|
FOXC1
|
forkhead box C1
|
|
FOXL2
|
forkhead box L2
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLIS2
|
GLIS family zinc finger 2
|
|
GNAS
|
GNAS complex locus
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS3
|
Hermansky-Pudlak syndrome 3
|
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HTT
|
huntingtin
|
|
HYDIN
|
HYDIN, axonemal central pair apparatus protein
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT80
|
intraflagellar transport 80
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
JPH2
|
junctophilin 2
|
|
KCNE1
|
potassium channel, voltage gated subfamily E regulatory beta subunit 1
|
|
KCNE2
|
potassium channel, voltage gated subfamily E regulatory beta subunit 2
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KIF7
|
kinesin family member 7
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT16
|
keratin 16, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT6A
|
keratin 6A, type II
|
|
KRT6B
|
keratin 6B, type II
|
|
KRT81
|
keratin 81, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT86
|
keratin 86, type II
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LRRC6
|
leucine rich repeat containing 6
|
|
LYST
|
lysosomal trafficking regulator
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MUTYH
|
mutY homolog
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYL3
|
myosin, light chain 3, alkali; ventricular, skeletal, slow
|
|
MYO7A
|
myosin VIIA
|
|
MYOZ2
|
myozenin 2
|
|
NBN
|
nibrin
|
|
NEK8
|
NIMA-related kinase 8
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NME8
|
NME/NM23 family member 8
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
OCA2
|
oculocutaneous albinism II
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX3
|
paired box 3
|
|
PCDH15
|
protocadherin-related 15
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PLN
|
phospholamban
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RECQL4
|
RecQ protein-like 4
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RSPH1
|
radial spoke head 1 homolog (Chlamydomonas)
|
|
RSPH4A
|
radial spoke head 4 homolog A (Chlamydomonas)
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCN4B
|
sodium channel, voltage gated, type IV beta subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNTA1
|
syntrophin, alpha 1
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPAG1
|
sperm associated antigen 1
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
TCAP
|
titin-cap
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM1
|
transglutaminase 1
|
|
TMEM67
|
transmembrane protein 67
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TP53
|
tumor protein p53
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTN
|
titin
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UMOD
|
uromodulin
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCL
|
vinculin
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
|
ZMYND10
|
zinc finger, MYND-type containing 10
|
|
ZNF169
|
zinc finger protein 169
|
|
ZNF423
|
zinc finger protein 423
|
