| Symbol |
Name |
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CDC73
|
cell division cycle 73
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2C
|
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLDN16
|
claudin 16
|
|
CLDN19
|
claudin 19
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
EGF
|
epidermal growth factor
|
|
ELN
|
elastin
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FXYD2
|
FXYD domain containing ion transport regulator 2
|
|
GATA3
|
GATA binding protein 3
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAS
|
GNAS complex locus
|
|
GNAS-AS1
|
GNAS antisense RNA 1
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HIRA
|
histone cell cycle regulator
|
|
IFT122
|
intraflagellar transport 122
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KIF1B
|
kinesin family member 1B
|
|
LIMK1
|
LIM domain kinase 1
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
ND1
|
|
|
NOTCH3
|
notch 3
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PTH
|
parathyroid hormone
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SNX10
|
sorting nexin 10
|
|
STX16
|
syntaxin 16
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TRPM6
|
transient receptor potential cation channel, subfamily M, member 6
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
