| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIRE
|
autoimmune regulator
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMH
|
anti-Mullerian hormone
|
|
AMHR2
|
anti-Mullerian hormone receptor, type II
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
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
|
|
AURKC
|
aurora kinase C
|
|
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
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C21ORF59
|
chromosome 21 open reading frame 59
|
|
CATSPER1
|
cation channel, sperm associated 1
|
|
CATSPER2
|
cation channel, sperm associated 2
|
|
CCDC39
|
coiled-coil domain containing 39
|
|
CCDC40
|
coiled-coil domain containing 40
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CCNO
|
cyclin O
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUL4B
|
cullin 4B
|
|
CUL7
|
cullin 7
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DAZ1
|
deleted in azoospermia 1
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAAF1
|
dynein, axonemal, assembly factor 1
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DNAAF5
|
dynein, axonemal, assembly factor 5
|
|
DNAI1
|
dynein, axonemal, intermediate chain 1
|
|
DNAI2
|
dynein, axonemal, intermediate chain 2
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
DYX1C1
|
dyslexia susceptibility 1 candidate 1
|
|
ELN
|
elastin
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXL2
|
forkhead box L2
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GNAS
|
GNAS complex locus
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GOPC
|
golgi-associated PDZ and coiled-coil motif containing
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCY1A3
|
guanylate cyclase 1, soluble, alpha 3
|
|
H6PD
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFT27
|
intraflagellar transport 27
|
|
IL17RD
|
interleukin 17 receptor D
|
|
KISS1
|
KiSS-1 metastasis-suppressor
|
|
KISS1R
|
KISS1 receptor
|
|
KLHL10
|
kelch-like family member 10
|
|
LEPR
|
leptin receptor
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LMNB1
|
lamin B1
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
NANOS1
|
nanos homolog 1 (Drosophila)
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OBSL1
|
obscurin-like 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PGR
|
progesterone receptor
|
|
PMM2
|
phosphomannomutase 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POC1A
|
POC1 centriolar protein A
|
|
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
|
|
PRLR
|
prolactin receptor
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROP1
|
PROP paired-like homeobox 1
|
|
PSMC3IP
|
PSMC3 interacting protein
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBM28
|
RNA binding motif protein 28
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RNF216
|
ring finger protein 216
|
|
RSPH1
|
radial spoke head 1 homolog (Chlamydomonas)
|
|
RSPH9
|
radial spoke head 9 homolog (Chlamydomonas)
|
|
SCP2
|
sterol carrier protein 2
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPT12
|
septin 12
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPATA16
|
spermatogenesis associated 16
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRY
|
sex determining region Y
|
|
STEAP3
|
STEAP family member 3, metalloreductase
|
|
STRC
|
stereocilin
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SYCP3
|
synaptonemal complex protein 3
|
|
TAC3
|
tachykinin 3
|
|
TACR3
|
tachykinin receptor 3
|
|
TAF4B
|
TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX3
|
T-box 3
|
|
TFR2
|
transferrin receptor 2
|
|
THOC6
|
THO complex 6
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTR
|
transthyretin
|
|
USP9Y
|
ubiquitin specific peptidase 9, Y-linked
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
ZMYND10
|
zinc finger, MYND-type containing 10
|
|
ZMYND15
|
zinc finger, MYND-type containing 15
|
|
ZP1
|
zona pellucida glycoprotein 1 (sperm receptor)
|
