| Symbol |
Name |
|
ABCA3
|
ATP-binding cassette, sub-family A (ABC1), member 3
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ARX
|
aristaless related homeobox
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CHAT
|
choline O-acetyltransferase
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CSF2RB
|
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAAF3
|
dynein, axonemal, assembly factor 3
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DSC2
|
desmocollin 2
|
|
EIF2AK4
|
eukaryotic translation initiation factor 2 alpha kinase 4
|
|
ENG
|
endoglin
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
GAA
|
glucosidase, alpha; acid
|
|
GBA
|
glucosidase, beta, acid
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
JAK2
|
Janus kinase 2
|
|
JPH2
|
junctophilin 2
|
|
LYRM4
|
LYR motif containing 4
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MRPL3
|
mitochondrial ribosomal protein L3
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NKX2-1
|
NK2 homeobox 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PGM1
|
phosphoglucomutase 1
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PRRX1
|
paired related homeobox 1
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SFTPA2
|
surfactant protein A2
|
|
SFTPB
|
surfactant protein B
|
|
SFTPC
|
surfactant protein C
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
VCL
|
vinculin
|
