Source Id |
NCBI (Entrez) Gene Id |
Gene Symbol |
Gene Description |
10015 |
10015 |
PDCD6IP |
programmed cell death 6 interacting protei... |
10133 |
10133 |
OPTN |
optineurin [Source:HGNC Symbol;Acc:HGNC:17... |
10381 |
10381 |
TUBB3 |
tubulin beta 3 class III [Source:HGNC Symb... |
10522 |
10522 |
DEAF1 |
DEAF1 transcription factor [Source:HGNC Sy... |
10806 |
10806 |
SDCCAG8 |
SHH signaling and ciliogenesis regulator S... |
10891 |
10891 |
PPARGC1A |
PPARG coactivator 1 alpha [Source:HGNC Sym... |
10908 |
10908 |
PNPLA6 |
patatin like phospholipase domain containi... |
11020 |
11020 |
IFT27 |
intraflagellar transport 27 [Source:HGNC S... |
1106 |
1106 |
CHD2 |
chromodomain helicase DNA binding protein ... |
1187 |
1187 |
CLCNKA |
chloride voltage-gated channel Ka [Source:... |
1188 |
1188 |
CLCNKB |
chloride voltage-gated channel Kb [Source:... |
1200 |
1200 |
TPP1 |
tripeptidyl peptidase 1 [Source:HGNC Symbo... |
1201 |
1201 |
CLN3 |
CLN3 lysosomal/endosomal transmembrane pro... |
1203 |
1203 |
CLN5 |
CLN5 intracellular trafficking protein [So... |
120892 |
120892 |
LRRK2 |
leucine rich repeat kinase 2 [Source:HGNC ... |
123016 |
123016 |
TTC8 |
tetratricopeptide repeat domain 8 [Source:... |
126 |
126 |
ADH1C |
alcohol dehydrogenase 1C (class I), gamma ... |
129880 |
129880 |
BBS5 |
Bardet-Biedl syndrome 5 [Source:HGNC Symbo... |
132320 |
132320 |
SCLT1 |
sodium channel and clathrin linker 1 [Sour... |
1387 |
1387 |
CREBBP |
CREB binding protein [Source:HGNC Symbol;A... |
1509 |
1509 |
CTSD |
cathepsin D [Source:HGNC Symbol;Acc:HGNC:2... |
157657 |
157657 |
CFAP418 |
cilia and flagella associated protein 418 ... |
1593 |
1593 |
CYP27A1 |
cytochrome P450 family 27 subfamily A memb... |
16 |
16 |
AARS1 |
alanyl-tRNA synthetase 1 [Source:HGNC Symb... |
1610 |
1610 |
DAO |
D-amino acid oxidase [Source:HGNC Symbol;A... |
162417 |
162417 |
NAGS |
N-acetylglutamate synthase [Source:HGNC Sy... |
1639 |
1639 |
DCTN1 |
dynactin subunit 1 [Source:HGNC Symbol;Acc... |
1644 |
1644 |
DDC |
dopa decarboxylase [Source:HGNC Symbol;Acc... |
165918 |
165918 |
RNF168 |
ring finger protein 168 [Source:HGNC Symbo... |
166379 |
166379 |
BBS12 |
Bardet-Biedl syndrome 12 [Source:HGNC Symb... |
1678 |
1678 |
TIMM8A |
translocase of inner mitochondrial membran... |
1757 |
1757 |
SARDH |
sarcosine dehydrogenase [Source:HGNC Symbo... |
1759 |
1759 |
DNM1 |
dynamin 1 [Source:HGNC Symbol;Acc:HGNC:2972] |
1813 |
1813 |
DRD2 |
dopamine receptor D2 [Source:HGNC Symbol;A... |
1861 |
1861 |
TOR1A |
torsin family 1 member A [Source:HGNC Symb... |
1967 |
1967 |
EIF2B1 |
eukaryotic translation initiation factor 2... |
1981 |
1981 |
EIF4G1 |
eukaryotic translation initiation factor 4... |
2033 |
2033 |
EP300 |
E1A binding protein p300 [Source:HGNC Symb... |
2043 |
2043 |
EPHA4 |
EPH receptor A4 [Source:HGNC Symbol;Acc:HG... |
2055 |
2055 |
CLN8 |
CLN8 transmembrane ER and ERGIC protein [S... |
2066 |
2066 |
ERBB4 |
erb-b2 receptor tyrosine kinase 4 [Source:... |
207 |
207 |
AKT1 |
AKT serine/threonine kinase 1 [Source:HGNC... |
2186 |
2186 |
BPTF |
bromodomain PHD finger transcription facto... |
22827 |
22827 |
PUF60 |
poly(U) binding splicing factor 60 [Source... |
22954 |
22954 |
TRIM32 |
tripartite motif containing 32 [Source:HGN... |
23025 |
23025 |
UNC13A |
unc-13 homolog A [Source:HGNC Symbol;Acc:H... |
23043 |
23043 |
TNIK |
TRAF2 and NCK interacting kinase [Source:H... |
23111 |
23111 |
SPART |
spartin [Source:HGNC Symbol;Acc:HGNC:18514] |
23162 |
23162 |
MAPK8IP3 |
mitogen-activated protein kinase 8 interac... |
23230 |
23230 |
VPS13A |
vacuolar protein sorting 13 homolog A [Sou... |
2328 |
2328 |
FMO3 |
flavin containing dimethylaniline monoxyge... |
23314 |
23314 |
SATB2 |
SATB homeobox 2 [Source:HGNC Symbol;Acc:HG... |
23316 |
23316 |
CUX2 |
cut like homeobox 2 [Source:HGNC Symbol;Ac... |
23317 |
23317 |
DNAJC13 |
DnaJ heat shock protein family (Hsp40) mem... |
23435 |
23435 |
TARDBP |
TAR DNA binding protein [Source:HGNC Symbo... |
23503 |
23503 |
ZFYVE26 |
zinc finger FYVE-type containing 26 [Sourc... |
2512 |
2512 |
FTL |
ferritin light chain [Source:HGNC Symbol;A... |
2521 |
2521 |
FUS |
FUS RNA binding protein [Source:HGNC Symbo... |
2562 |
2562 |
GABRB3 |
gamma-aminobutyric acid type A receptor su... |
256471 |
256471 |
MFSD8 |
major facilitator superfamily domain conta... |
2566 |
2566 |
GABRG2 |
gamma-aminobutyric acid type A receptor su... |
2581 |
2581 |
GALC |
galactosylceramidase [Source:HGNC Symbol;A... |
2583 |
2583 |
B4GALNT1 |
beta-1,4-N-acetyl-galactosaminyltransferas... |
25974 |
25974 |
MMACHC |
metabolism of cobalamin associated C [Sour... |
25978 |
25978 |
CHMP2B |
charged multivesicular body protein 2B [So... |
26047 |
26047 |
CNTNAP2 |
contactin associated protein 2 [Source:HGN... |
26058 |
26058 |
GIGYF2 |
GRB10 interacting GYF protein 2 [Source:HG... |
26160 |
26160 |
IFT172 |
intraflagellar transport 172 [Source:HGNC ... |
2629 |
2629 |
GBA1 |
glucosylceramidase beta 1 [Source:HGNC Sym... |
27241 |
27241 |
BBS9 |
Bardet-Biedl syndrome 9 [Source:HGNC Symbo... |
27286 |
27286 |
SRPX2 |
sushi repeat containing protein X-linked 2... |
2733 |
2733 |
GLE1 |
GLE1 RNA export mediator [Source:HGNC Symb... |
2767 |
2767 |
GNA11 |
G protein subunit alpha 11 [Source:HGNC Sy... |
2778 |
2778 |
GNAS |
GNAS complex locus [Source:HGNC Symbol;Acc... |
2783 |
2783 |
GNB2 |
G protein subunit beta 2 [Source:HGNC Symb... |
283 |
283 |
ANG |
angiogenin [Source:HGNC Symbol;Acc:HGNC:483] |
2896 |
2896 |
GRN |
granulin precursor [Source:HGNC Symbol;Acc... |
2898 |
2898 |
GRIK2 |
glutamate ionotropic receptor kainate type... |
2903 |
2903 |
GRIN2A |
glutamate ionotropic receptor NMDA type su... |
2908 |
2908 |
NR3C1 |
nuclear receptor subfamily 3 group C membe... |
29110 |
29110 |
TBK1 |
TANK binding kinase 1 [Source:HGNC Symbol;... |
29978 |
29978 |
UBQLN2 |
ubiquilin 2 [Source:HGNC Symbol;Acc:HGNC:1... |
3064 |
3064 |
HTT |
huntingtin [Source:HGNC Symbol;Acc:HGNC:4851] |
311 |
311 |
ANXA11 |
annexin A11 [Source:HGNC Symbol;Acc:HGNC:535] |
3119 |
3119 |
HLA-DQB1 |
major histocompatibility complex, class II... |
3123 |
3123 |
HLA-DRB1 |
major histocompatibility complex, class II... |
3178 |
3178 |
HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1... |
340024 |
340024 |
SLC6A19 |
solute carrier family 6 member 19 [Source:... |
348 |
348 |
APOE |
apolipoprotein E [Source:HGNC Symbol;Acc:H... |
378884 |
378884 |
NHLRC1 |
NHL repeat containing E3 ubiquitin protein... |
388662 |
388662 |
SLC6A17 |
solute carrier family 6 member 17 [Source:... |
3953 |
3953 |
LEPR |
leptin receptor [Source:HGNC Symbol;Acc:HG... |
4001 |
4001 |
LMNB1 |
lamin B1 [Source:HGNC Symbol;Acc:HGNC:6637] |
400916 |
400916 |
CHCHD10 |
coiled-coil-helix-coiled-coil-helix domain... |
407975 |
407975 |
MIR17HG |
miR-17-92a-1 cluster host gene [Source:HGN... |
410 |
410 |
ARSA |
arylsulfatase A [Source:HGNC Symbol;Acc:HG... |
4128 |
4128 |
MAOA |
monoamine oxidase A [Source:HGNC Symbol;Ac... |
4137 |
4137 |
MAPT |
microtubule associated protein tau [Source... |
4204 |
4204 |
MECP2 |
methyl-CpG binding protein 2 [Source:HGNC ... |
4287 |
4287 |
ATXN3 |
ataxin 3 [Source:HGNC Symbol;Acc:HGNC:7106] |
4297 |
4297 |
KMT2A |
lysine methyltransferase 2A [Source:HGNC S... |
4512 |
4512 |
MT-CO1 |
mitochondrially encoded cytochrome c oxida... |
4513 |
4513 |
MT-CO2 |
mitochondrially encoded cytochrome c oxida... |
4514 |
4514 |
MT-CO3 |
mitochondrially encoded cytochrome c oxida... |
4535 |
4535 |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone ox... |
4538 |
4538 |
MT-ND4 |
mitochondrially encoded NADH:ubiquinone ox... |
4540 |
4540 |
MT-ND5 |
mitochondrially encoded NADH:ubiquinone ox... |
4541 |
4541 |
MT-ND6 |
mitochondrially encoded NADH:ubiquinone ox... |
4558 |
4558 |
MT-TF |
mitochondrially encoded tRNA-Phe (UUU/C) [... |
4564 |
4564 |
MT-TH |
mitochondrially encoded tRNA-His (CAU/C) [... |
4567 |
4567 |
MT-TL1 |
mitochondrially encoded tRNA-Leu (UUA/G) 1... |
4572 |
4572 |
MT-TQ |
mitochondrially encoded tRNA-Gln (CAA/G) [... |
4574 |
4574 |
MT-TS1 |
mitochondrially encoded tRNA-Ser (UCN) 1 [... |
4575 |
4575 |
MT-TS2 |
mitochondrially encoded tRNA-Ser (AGU/C) 2... |
4576 |
4576 |
MT-TT |
mitochondrially encoded tRNA-Thr (ACN) [So... |
4578 |
4578 |
MT-TW |
mitochondrially encoded tRNA-Trp (UGA/G) [... |
4744 |
4744 |
NEFH |
neurofilament heavy chain [Source:HGNC Sym... |
4750 |
4750 |
NEK1 |
NIMA related kinase 1 [Source:HGNC Symbol;... |
477 |
477 |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2... |
4771 |
4771 |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tu... |
478 |
478 |
ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3... |
4854 |
4854 |
NOTCH3 |
notch receptor 3 [Source:HGNC Symbol;Acc:H... |
4867 |
4867 |
NPHP1 |
nephrocystin 1 [Source:HGNC Symbol;Acc:HGN... |
4914 |
4914 |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 [S... |
4929 |
4929 |
NR4A2 |
nuclear receptor subfamily 4 group A membe... |
4983 |
4983 |
OPHN1 |
oligophrenin 1 [Source:HGNC Symbol;Acc:HGN... |
49855 |
49855 |
SCAPER |
S-phase cyclin A associated protein in the... |
50940 |
50940 |
PDE11A |
phosphodiesterase 11A [Source:HGNC Symbol;... |
51057 |
51057 |
WDPCP |
WD repeat containing planar cell polarity ... |
51322 |
51322 |
WAC |
WW domain containing adaptor with coiled-c... |
51324 |
51324 |
SPG21 |
SPG21 abhydrolase domain containing, maspa... |
5133 |
5133 |
PDCD1 |
programmed cell death 1 [Source:HGNC Symbo... |
5155 |
5155 |
PDGFB |
platelet derived growth factor subunit B [... |
51684 |
51684 |
SUFU |
SUFU negative regulator of hedgehog signal... |
5216 |
5216 |
PFN1 |
profilin 1 [Source:HGNC Symbol;Acc:HGNC:8881] |
5230 |
5230 |
PGK1 |
phosphoglycerate kinase 1 [Source:HGNC Sym... |
5290 |
5290 |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-ki... |
540 |
540 |
ATP7B |
ATPase copper transporting beta [Source:HG... |
54209 |
54209 |
TREM2 |
triggering receptor expressed on myeloid c... |
5428 |
5428 |
POLG |
DNA polymerase gamma, catalytic subunit [S... |
5444 |
5444 |
PON1 |
paraoxonase 1 [Source:HGNC Symbol;Acc:HGNC... |
5445 |
5445 |
PON2 |
paraoxonase 2 [Source:HGNC Symbol;Acc:HGNC... |
5446 |
5446 |
PON3 |
paraoxonase 3 [Source:HGNC Symbol;Acc:HGNC... |
54476 |
54476 |
RNF216 |
ring finger protein 216 [Source:HGNC Symbo... |
54487 |
54487 |
DGCR8 |
DGCR8 microprocessor complex subunit [Sour... |
54585 |
54585 |
LZTFL1 |
leucine zipper transcription factor like 1... |
546 |
546 |
ATRX |
ATRX chromatin remodeler [Source:HGNC Symb... |
54664 |
54664 |
TMEM106B |
transmembrane protein 106B [Source:HGNC Sy... |
54903 |
54903 |
MKS1 |
MKS transition zone complex subunit 1 [Sou... |
54941 |
54941 |
RNF125 |
ring finger protein 125 [Source:HGNC Symbo... |
54982 |
54982 |
CLN6 |
CLN6 transmembrane ER protein [Source:HGNC... |
55149 |
55149 |
MTPAP |
mitochondrial poly(A) polymerase [Source:H... |
55212 |
55212 |
BBS7 |
Bardet-Biedl syndrome 7 [Source:HGNC Symbo... |
5528 |
5528 |
PPP2R5D |
protein phosphatase 2 regulatory subunit B... |
5538 |
5538 |
PPT1 |
palmitoyl-protein thioesterase 1 [Source:H... |
55630 |
55630 |
SLC39A4 |
solute carrier family 39 member 4 [Source:... |
5566 |
5566 |
PRKACA |
protein kinase cAMP-activated catalytic su... |
5573 |
5573 |
PRKAR1A |
protein kinase cAMP-dependent type I regul... |
55737 |
55737 |
VPS35 |
VPS35 retromer complex component [Source:H... |
55830 |
55830 |
GLT8D1 |
glycosyltransferase 8 domain containing 1 ... |
55869 |
55869 |
HDAC8 |
histone deacetylase 8 [Source:HGNC Symbol;... |
5602 |
5602 |
MAPK10 |
mitogen-activated protein kinase 10 [Sourc... |
5621 |
5621 |
PRNP |
prion protein [Source:HGNC Symbol;Acc:HGNC... |
5630 |
5630 |
PRPH |
peripherin [Source:HGNC Symbol;Acc:HGNC:9461] |
5654 |
5654 |
HTRA1 |
HtrA serine peptidase 1 [Source:HGNC Symbo... |
5660 |
5660 |
PSAP |
prosaposin [Source:HGNC Symbol;Acc:HGNC:9498] |
5663 |
5663 |
PSEN1 |
presenilin 1 [Source:HGNC Symbol;Acc:HGNC:... |
56652 |
56652 |
TWNK |
twinkle mtDNA helicase [Source:HGNC Symbol... |
5718 |
5718 |
PSMD12 |
proteasome 26S subunit, non-ATPase 12 [Sou... |
57338 |
57338 |
JPH3 |
junctophilin 3 [Source:HGNC Symbol;Acc:HGN... |
57393 |
57393 |
CLTRN |
collectrin, amino acid transport regulator... |
57459 |
57459 |
GATAD2B |
GATA zinc finger domain containing 2B [Sou... |
57582 |
57582 |
KCNT1 |
potassium sodium-activated channel subfami... |
582 |
582 |
BBS1 |
Bardet-Biedl syndrome 1 [Source:HGNC Symbo... |
583 |
583 |
BBS2 |
Bardet-Biedl syndrome 2 [Source:HGNC Symbo... |
585 |
585 |
BBS4 |
Bardet-Biedl syndrome 4 [Source:HGNC Symbo... |
6095 |
6095 |
RORA |
RAR related orphan receptor A [Source:HGNC... |
617 |
617 |
BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reduc... |
6311 |
6311 |
ATXN2 |
ataxin 2 [Source:HGNC Symbol;Acc:HGNC:10555] |
6315 |
6315 |
ATXN8OS |
ATXN8 opposite strand lncRNA [Source:HGNC ... |
6323 |
6323 |
SCN1A |
sodium voltage-gated channel alpha subunit... |
64072 |
64072 |
CDH23 |
cadherin related 23 [Source:HGNC Symbol;Ac... |
64864 |
64864 |
RFX7 |
regulatory factor X7 [Source:HGNC Symbol;A... |
6507 |
6507 |
SLC1A3 |
solute carrier family 1 member 3 [Source:H... |
6595 |
6595 |
SMARCA2 |
SWI/SNF related, matrix associated, actin ... |
6598 |
6598 |
SMARCB1 |
SWI/SNF related, matrix associated, actin ... |
6605 |
6605 |
SMARCE1 |
SWI/SNF related, matrix associated, actin ... |
6608 |
6608 |
SMO |
smoothened, frizzled class receptor [Sourc... |
6622 |
6622 |
SNCA |
synuclein alpha [Source:HGNC Symbol;Acc:HG... |
6647 |
6647 |
SOD1 |
superoxide dismutase 1 [Source:HGNC Symbol... |
6711 |
6711 |
SPTBN1 |
spectrin beta, non-erythrocytic 1 [Source:... |
673 |
673 |
BRAF |
B-Raf proto-oncogene, serine/threonine kin... |
6899 |
6899 |
TBX1 |
T-box transcription factor 1 [Source:HGNC ... |
6908 |
6908 |
TBP |
TATA-box binding protein [Source:HGNC Symb... |
6999 |
6999 |
TDO2 |
tryptophan 2,3-dioxygenase [Source:HGNC Sy... |
7015 |
7015 |
TERT |
telomerase reverse transcriptase [Source:H... |
7072 |
7072 |
TIA1 |
TIA1 cytotoxic granule associated RNA bind... |
7157 |
7157 |
TP53 |
tumor protein p53 [Source:HGNC Symbol;Acc:... |
727676 |
727676 |
SNORD118 |
small nucleolar RNA, C/D box 118 [Source:H... |
7305 |
7305 |
TYROBP |
transmembrane immune signaling adaptor TYR... |
7415 |
7415 |
VCP |
valosin containing protein [Source:HGNC Sy... |
7504 |
7504 |
XK |
X-linked Kx blood group antigen, Kell and ... |
755 |
755 |
CFAP410 |
cilia and flagella associated protein 410 ... |
773 |
773 |
CACNA1A |
calcium voltage-gated channel subunit alph... |
7809 |
7809 |
BSND |
barttin CLCNK type accessory subunit beta ... |
7957 |
7957 |
EPM2A |
EPM2A glucan phosphatase, laforin [Source:... |
79734 |
79734 |
KCTD17 |
potassium channel tetramerization domain c... |
79738 |
79738 |
BBS10 |
Bardet-Biedl syndrome 10 [Source:HGNC Symb... |
79798 |
79798 |
ARMC5 |
armadillo repeat containing 5 [Source:HGNC... |
80025 |
80025 |
PANK2 |
pantothenate kinase 2 [Source:HGNC Symbol;... |
80173 |
80173 |
IFT74 |
intraflagellar transport 74 [Source:HGNC S... |
80184 |
80184 |
CEP290 |
centrosomal protein 290 [Source:HGNC Symbo... |
80208 |
80208 |
SPG11 |
SPG11 vesicle trafficking associated, spat... |
80331 |
80331 |
DNAJC5 |
DnaJ heat shock protein family (Hsp40) mem... |
8148 |
8148 |
TAF15 |
TATA-box binding protein associated factor... |
81887 |
81887 |
LAS1L |
LAS1 like ribosome biogenesis factor [Sour... |
8195 |
8195 |
MKKS |
MKKS centrosomal shuttling protein [Source... |
8214 |
8214 |
DGCR6 |
DiGeorge syndrome critical region gene 6 [... |
8220 |
8220 |
ESS2 |
ess-2 splicing factor homolog [Source:HGNC... |
8242 |
8242 |
KDM5C |
lysine demethylase 5C [Source:HGNC Symbol;... |
8314 |
8314 |
BAP1 |
BRCA1 associated protein 1 [Source:HGNC Sy... |
83636 |
83636 |
C19orf12 |
chromosome 19 open reading frame 12 [Sourc... |
8398 |
8398 |
PLA2G6 |
phospholipase A2 group VI [Source:HGNC Sym... |
84100 |
84100 |
ARL6 |
ADP ribosylation factor like GTPase 6 [Sou... |
84196 |
84196 |
USP48 |
ubiquitin specific peptidase 48 [Source:HG... |
84231 |
84231 |
TRAF7 |
TNF receptor associated factor 7 [Source:H... |
8450 |
8450 |
CUL4B |
cullin 4B [Source:HGNC Symbol;Acc:HGNC:2555] |
846 |
846 |
CASR |
calcium sensing receptor [Source:HGNC Symb... |
84984 |
84984 |
CEP19 |
centrosomal protein 19 [Source:HGNC Symbol... |
8518 |
8518 |
ELP1 |
elongator acetyltransferase complex subuni... |
8722 |
8722 |
CTSF |
cathepsin F [Source:HGNC Symbol;Acc:HGNC:2... |
875 |
875 |
CBS |
cystathionine beta-synthase [Source:HGNC S... |
8878 |
8878 |
SQSTM1 |
sequestosome 1 [Source:HGNC Symbol;Acc:HGN... |
8910 |
8910 |
SGCE |
sarcoglycan epsilon [Source:HGNC Symbol;Ac... |
899 |
899 |
CCNF |
cyclin F [Source:HGNC Symbol;Acc:HGNC:1591] |
9049 |
9049 |
AIP |
aryl hydrocarbon receptor interacting prot... |
9101 |
9101 |
USP8 |
ubiquitin specific peptidase 8 [Source:HGN... |
9217 |
9217 |
VAPB |
VAMP associated protein B and C [Source:HG... |
92482 |
92482 |
BBIP1 |
BBSome interacting protein 1 [Source:HGNC ... |
9627 |
9627 |
SNCAIP |
synuclein alpha interacting protein [Sourc... |
9782 |
9782 |
MATR3 |
matrin 3 [Source:HGNC Symbol;Acc:HGNC:6912] |
9896 |
9896 |
FIG4 |
FIG4 phosphoinositide 5-phosphatase [Sourc... |
9968 |
9968 |
MED12 |
mediator complex subunit 12 [Source:HGNC S... |
9993 |
9993 |
DGCR2 |
DiGeorge syndrome critical region gene 2 [... |