| Symbol |
Name |
|
ADA
|
adenosine deaminase
|
|
ADCK4
|
aarF domain containing kinase 4
|
|
APOA1
|
apolipoprotein A-I
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
BBIP1
|
BBSome interacting protein 1
|
|
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
|
|
C3
|
complement component 3
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A4
|
collagen, type IV, alpha 4
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COQ6
|
coenzyme Q6 monooxygenase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
FGA
|
fibrinogen alpha chain
|
|
FN1
|
fibronectin 1
|
|
GATA3
|
GATA binding protein 3
|
|
GLA
|
galactosidase, alpha
|
|
GSN
|
gelsolin
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT27
|
intraflagellar transport 27
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LYZ
|
lysozyme
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MEFV
|
Mediterranean fever
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
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
|
|
MYO1E
|
myosin IE
|
|
ND1
|
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
PAX2
|
paired box 2
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PRKCD
|
protein kinase C, delta
|
|
PTPRO
|
protein tyrosine phosphatase, receptor type, O
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPC6
|
transient receptor potential cation channel, subfamily C, member 6
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WT1
|
Wilms tumor 1
|
