| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
AIRE
|
autoimmune regulator
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ANOS1
|
anosmin 1
|
|
AR
|
androgen receptor
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
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
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CUL4B
|
cullin 4B
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GNAS
|
GNAS complex locus
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
HDAC8
|
histone deacetylase 8
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFT27
|
intraflagellar transport 27
|
|
KISS1
|
KiSS-1 metastasis-suppressor
|
|
KISS1R
|
KISS1 receptor
|
|
LEPR
|
leptin receptor
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LMNA
|
lamin A/C
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RBM28
|
RNA binding motif protein 28
|
|
RECQL4
|
RecQ protein-like 4
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RNF216
|
ring finger protein 216
|
|
SCP2
|
sterol carrier protein 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
STEAP3
|
STEAP family member 3, metalloreductase
|
|
TAC3
|
tachykinin 3
|
|
TACR3
|
tachykinin receptor 3
|
|
TFR2
|
transferrin receptor 2
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
