| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AP5Z1
|
adaptor-related protein complex 5, zeta 1 subunit
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARSA
|
arylsulfatase A
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DBH
|
dopamine beta-hydroxylase (dopamine beta-monooxygenase)
|
|
DDHD2
|
DDHD domain containing 2
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELN
|
elastin
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FBLN5
|
fibulin 5
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FLNA
|
filamin A, alpha
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GATA3
|
GATA binding protein 3
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HIRA
|
histone cell cycle regulator
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
JAG1
|
jagged 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KIAA0196
|
KIAA0196
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF5A
|
kinesin family member 5A
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRIG2
|
leucine-rich repeats and immunoglobulin-like domains 2
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOTCH3
|
notch 3
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX2
|
paired box 2
|
|
PEPD
|
peptidase D
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PRNP
|
prion protein
|
|
PSAP
|
prosaposin
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RECQL4
|
RecQ protein-like 4
|
|
REEP1
|
receptor accessory protein 1
|
|
REEP2
|
receptor accessory protein 2
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
ROBO2
|
roundabout, axon guidance receptor, homolog 2 (Drosophila)
|
|
RPL11
|
ribosomal protein L11
|
|
RTN2
|
reticulon 2
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SOX17
|
SRY (sex determining region Y)-box 17
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
STAMBP
|
STAM binding protein
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TBX1
|
T-box 1
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTR
|
transthyretin
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPB1
|
ureidopropionase, beta
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VANGL2
|
VANGL planar cell polarity protein 2
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF592
|
zinc finger protein 592
|
