Source Id |
NCBI (Entrez) Gene Id |
Gene Symbol |
Gene Description |
100033413 |
100033413 |
SNORD116-1 |
small nucleolar RNA, C/D box 116-1... |
100144748 |
100144748 |
KLLN |
killin, p53 regulated DNA replicat... |
10058 |
10058 |
ABCB6 |
ATP binding cassette subfamily B m... |
10060 |
10060 |
ABCC9 |
ATP binding cassette subfamily C m... |
10195 |
10195 |
ALG3 |
ALG3 alpha-1,3- mannosyltransferas... |
10297 |
10297 |
APC2 |
APC regulator of WNT signaling pat... |
103 |
103 |
ADAR |
adenosine deaminase RNA specific [... |
10459 |
10459 |
MAD2L2 |
mitotic arrest deficient 2 like 2 ... |
10483 |
10483 |
SEC23B |
SEC23 homolog B, COPII coat comple... |
10519 |
10519 |
CIB1 |
calcium and integrin binding 1 [So... |
10682 |
10682 |
EBP |
EBP cholestenol delta-isomerase [S... |
1075 |
1075 |
CTSC |
cathepsin C [Source:HGNC Symbol;Ac... |
11152 |
11152 |
WDR45 |
WD repeat domain 45 [Source:HGNC S... |
1123 |
1123 |
CHN1 |
chimerin 1 [Source:HGNC Symbol;Acc... |
11234 |
11234 |
HPS5 |
HPS5 biogenesis of lysosomal organ... |
1130 |
1130 |
LYST |
lysosomal trafficking regulator [S... |
11322 |
11322 |
TMC6 |
transmembrane channel like 6 [Sour... |
114034 |
114034 |
TOE1 |
target of EGR1, exonuclease [Sourc... |
117581 |
117581 |
TWIST2 |
twist family bHLH transcription fa... |
1186 |
1186 |
CLCN7 |
chloride voltage-gated channel 7 [... |
1235 |
1235 |
CCR6 |
C-C motif chemokine receptor 6 [So... |
1312 |
1312 |
COMT |
catechol-O-methyltransferase [Sour... |
134218 |
134218 |
DNAJC21 |
DnaJ heat shock protein family (Hs... |
1349 |
1349 |
COX7B |
cytochrome c oxidase subunit 7B [S... |
145624 |
145624 |
PWAR1 |
Prader Willi/Angelman region RNA 1... |
147138 |
147138 |
TMC8 |
transmembrane channel like 8 [Sour... |
1490 |
1490 |
CCN2 |
cellular communication network fac... |
1493 |
1493 |
CTLA4 |
cytotoxic T-lymphocyte associated ... |
1497 |
1497 |
CTNS |
cystinosin, lysosomal cystine tran... |
1638 |
1638 |
DCT |
dopachrome tautomerase [Source:HGN... |
1643 |
1643 |
DDB2 |
damage specific DNA binding protei... |
1736 |
1736 |
DKC1 |
dyskerin pseudouridine synthase 1 ... |
1908 |
1908 |
EDN3 |
endothelin 3 [Source:HGNC Symbol;A... |
1910 |
1910 |
EDNRB |
endothelin receptor type B [Source... |
205717 |
205717 |
USF3 |
upstream transcription factor fami... |
2068 |
2068 |
ERCC2 |
ERCC excision repair 2, TFIIH core... |
207 |
207 |
AKT1 |
AKT serine/threonine kinase 1 [Sou... |
2071 |
2071 |
ERCC3 |
ERCC excision repair 3, TFIIH core... |
2072 |
2072 |
ERCC4 |
ERCC excision repair 4, endonuclea... |
2073 |
2073 |
ERCC5 |
ERCC excision repair 5, endonuclea... |
2077 |
2077 |
ERF |
ETS2 repressor factor [Source:HGNC... |
2175 |
2175 |
FANCA |
FA complementation group A [Source... |
2176 |
2176 |
FANCC |
FA complementation group C [Source... |
2177 |
2177 |
FANCD2 |
FA complementation group D2 [Sourc... |
2178 |
2178 |
FANCE |
FA complementation group E [Source... |
2187 |
2187 |
FANCB |
FA complementation group B [Source... |
2188 |
2188 |
FANCF |
FA complementation group F [Source... |
2189 |
2189 |
FANCG |
FA complementation group G [Source... |
221037 |
221037 |
JMJD1C |
jumonji domain containing 1C [Sour... |
2261 |
2261 |
FGFR3 |
fibroblast growth factor receptor ... |
2263 |
2263 |
FGFR2 |
fibroblast growth factor receptor ... |
23328 |
23328 |
SASH1 |
SAM and SH3 domain containing 1 [S... |
23509 |
23509 |
POFUT1 |
protein O-fucosyltransferase 1 [So... |
23556 |
23556 |
PIGN |
phosphatidylinositol glycan anchor... |
23742 |
23742 |
NPAP1 |
nuclear pore associated protein 1 ... |
2475 |
2475 |
MTOR |
mechanistic target of rapamycin ki... |
2581 |
2581 |
GALC |
galactosylceramidase [Source:HGNC ... |
26191 |
26191 |
PTPN22 |
protein tyrosine phosphatase non-r... |
2623 |
2623 |
GATA1 |
GATA binding protein 1 [Source:HGN... |
26258 |
26258 |
BLOC1S6 |
biogenesis of lysosomal organelles... |
26277 |
26277 |
TINF2 |
TERF1 interacting nuclear factor 2... |
26503 |
26503 |
SLC17A5 |
solute carrier family 17 member 5 ... |
2812 |
2812 |
GP1BB |
glycoprotein Ib platelet subunit b... |
283652 |
283652 |
SLC24A5 |
solute carrier family 24 member 5 ... |
284058 |
284058 |
KANSL1 |
KAT8 regulatory NSL complex subuni... |
28956 |
28956 |
LAMTOR2 |
late endosomal/lysosomal adaptor, ... |
28960 |
28960 |
DCPS |
decapping enzyme, scavenger [Sourc... |
29072 |
29072 |
SETD2 |
SET domain containing 2, histone l... |
29089 |
29089 |
UBE2T |
ubiquitin conjugating enzyme E2 T ... |
3052 |
3052 |
HCCS |
holocytochrome c synthase [Source:... |
3123 |
3123 |
HLA-DRB1 |
major histocompatibility complex, ... |
3257 |
3257 |
HPS1 |
HPS1 biogenesis of lysosomal organ... |
326 |
326 |
AIRE |
autoimmune regulator [Source:HGNC ... |
3265 |
3265 |
HRAS |
HRas proto-oncogene, GTPase [Sourc... |
338433 |
338433 |
SNORD115-1 |
small nucleolar RNA, C/D box 115-1... |
340024 |
340024 |
SLC6A19 |
solute carrier family 6 member 19 ... |
3458 |
3458 |
IFNG |
interferon gamma [Source:HGNC Symb... |
348 |
348 |
APOE |
apolipoprotein E [Source:HGNC Symb... |
355 |
355 |
FAS |
Fas cell surface death receptor [S... |
3574 |
3574 |
IL7 |
interleukin 7 [Source:HGNC Symbol;... |
3653 |
|
|
|
3663 |
3663 |
IRF5 |
interferon regulatory factor 5 [So... |
374879 |
374879 |
ZNF699 |
zinc finger protein 699 [Source:HG... |
3815 |
3815 |
KIT |
KIT proto-oncogene, receptor tyros... |
3845 |
3845 |
KRAS |
KRAS proto-oncogene, GTPase [Sourc... |
3852 |
3852 |
KRT5 |
keratin 5 [Source:HGNC Symbol;Acc:... |
3861 |
3861 |
KRT14 |
keratin 14 [Source:HGNC Symbol;Acc... |
388552 |
388552 |
BLOC1S3 |
biogenesis of lysosomal organelles... |
3991 |
3991 |
LIPE |
lipase E, hormone sensitive type [... |
4000 |
4000 |
LMNA |
lamin A/C [Source:HGNC Symbol;Acc:... |
4157 |
4157 |
MC1R |
melanocortin 1 receptor [Source:HG... |
421 |
421 |
ARVCF |
ARVCF delta catenin family member ... |
4254 |
4254 |
KITLG |
KIT ligand [Source:HGNC Symbol;Acc... |
4286 |
4286 |
MITF |
melanocyte inducing transcription ... |
4292 |
4292 |
MLH1 |
mutL homolog 1 [Source:HGNC Symbol... |
4644 |
4644 |
MYO5A |
myosin VA [Source:HGNC Symbol;Acc:... |
4692 |
4692 |
NDN |
necdin, MAGE family member [Source... |
4869 |
4869 |
NPM1 |
nucleophosmin 1 [Source:HGNC Symbo... |
4893 |
4893 |
NRAS |
NRAS proto-oncogene, GTPase [Sourc... |
4948 |
4948 |
OCA2 |
OCA2 melanosomal transmembrane pro... |
4952 |
4952 |
OCRL |
OCRL inositol polyphosphate-5-phos... |
5053 |
5053 |
PAH |
phenylalanine hydroxylase [Source:... |
5073 |
5073 |
PARN |
poly(A)-specific ribonuclease [Sou... |
5077 |
5077 |
PAX3 |
paired box 3 [Source:HGNC Symbol;A... |
51151 |
51151 |
SLC45A2 |
solute carrier family 45 member 2 ... |
5116 |
5116 |
PCNT |
pericentrin [Source:HGNC Symbol;Ac... |
5122 |
5122 |
PCSK1 |
proprotein convertase subtilisin/k... |
51750 |
51750 |
RTEL1 |
regulator of telomere elongation h... |
5290 |
5290 |
PIK3CA |
phosphatidylinositol-4,5-bisphosph... |
538 |
538 |
ATP7A |
ATPase copper transporting alpha [... |
54 |
54 |
ACP5 |
acid phosphatase 5, tartrate resis... |
5429 |
5429 |
POLH |
DNA polymerase eta [Source:HGNC Sy... |
5443 |
5443 |
POMC |
proopiomelanocortin [Source:HGNC S... |
54539 |
54539 |
NDUFB11 |
NADH:ubiquinone oxidoreductase sub... |
54551 |
54551 |
MAGEL2 |
MAGE family member L2 [Source:HGNC... |
54800 |
54800 |
KLHL24 |
kelch like family member 24 [Sourc... |
5498 |
5498 |
PPOX |
protoporphyrinogen oxidase [Source... |
55120 |
55120 |
FANCL |
FA complementation group L [Source... |
55135 |
55135 |
WRAP53 |
WD repeat containing antisense to ... |
55159 |
55159 |
RFWD3 |
ring finger and WD repeat domain 3... |
55215 |
55215 |
FANCI |
FA complementation group I [Source... |
55505 |
55505 |
NOP10 |
NOP10 ribonucleoprotein [Source:HG... |
55612 |
55612 |
FERMT1 |
FERM domain containing kindlin 1 [... |
55651 |
55651 |
NHP2 |
NHP2 ribonucleoprotein [Source:HGN... |
55717 |
55717 |
WDR11 |
WD repeat domain 11 [Source:HGNC S... |
55851 |
55851 |
PSENEN |
presenilin enhancer, gamma-secreta... |
56244 |
56244 |
BTNL2 |
butyrophilin like 2 [Source:HGNC S... |
5660 |
5660 |
PSAP |
prosaposin [Source:HGNC Symbol;Acc... |
56983 |
56983 |
POGLUT1 |
protein O-glucosyltransferase 1 [S... |
57167 |
57167 |
SALL4 |
spalt like transcription factor 4 ... |
57194 |
57194 |
ATP10A |
ATPase phospholipid transporting 1... |
5728 |
5728 |
PTEN |
phosphatase and tensin homolog [So... |
57393 |
57393 |
CLTRN |
collectrin, amino acid transport r... |
57697 |
57697 |
FANCM |
FA complementation group M [Source... |
57724 |
57724 |
EPG5 |
ectopic P-granules 5 autophagy tet... |
5873 |
5873 |
RAB27A |
RAB27A, member RAS oncogene family... |
5888 |
5888 |
RAD51 |
RAD51 recombinase [Source:HGNC Sym... |
5889 |
5889 |
RAD51C |
RAD51 paralog C [Source:HGNC Symbo... |
5894 |
5894 |
RAF1 |
Raf-1 proto-oncogene, serine/threo... |
6239 |
6239 |
RREB1 |
ras responsive element binding pro... |
6390 |
6390 |
SDHB |
succinate dehydrogenase complex ir... |
6391 |
6391 |
SDHC |
succinate dehydrogenase complex su... |
63915 |
63915 |
BLOC1S5 |
biogenesis of lysosomal organelles... |
6392 |
6392 |
SDHD |
succinate dehydrogenase complex su... |
641 |
641 |
BLM |
BLM RecQ like helicase [Source:HGN... |
64324 |
64324 |
NSD1 |
nuclear receptor binding SET domai... |
64682 |
64682 |
ANAPC1 |
anaphase promoting complex subunit... |
64840 |
64840 |
PORCN |
porcupine O-acyltransferase [Sourc... |
6492 |
6492 |
SIM1 |
SIM bHLH transcription factor 1 [S... |
6499 |
6499 |
SKIC2 |
SKI2 subunit of superkiller comple... |
6591 |
6591 |
SNAI2 |
snail family transcriptional repre... |
6608 |
6608 |
SMO |
smoothened, frizzled class recepto... |
6611 |
6611 |
SMS |
spermine synthase [Source:HGNC Sym... |
6638 |
6638 |
SNRPN |
small nuclear ribonucleoprotein po... |
6663 |
6663 |
SOX10 |
SRY-box transcription factor 10 [S... |
6711 |
6711 |
SPTBN1 |
spectrin beta, non-erythrocytic 1 ... |
672 |
672 |
BRCA1 |
BRCA1 DNA repair associated [Sourc... |
673 |
673 |
BRAF |
B-Raf proto-oncogene, serine/threo... |
675 |
675 |
BRCA2 |
BRCA2 DNA repair associated [Sourc... |
6899 |
6899 |
TBX1 |
T-box transcription factor 1 [Sour... |
6925 |
6925 |
TCF4 |
transcription factor 4 [Source:HGN... |
695 |
695 |
BTK |
Bruton tyrosine kinase [Source:HGN... |
7012 |
7012 |
TERC |
telomerase RNA component [Source:H... |
7015 |
7015 |
TERT |
telomerase reverse transcriptase [... |
7030 |
7030 |
TFE3 |
transcription factor binding to IG... |
7133 |
7133 |
TNFRSF1B |
TNF receptor superfamily member 1B... |
7248 |
7248 |
TSC1 |
TSC complex subunit 1 [Source:HGNC... |
7249 |
7249 |
TSC2 |
TSC complex subunit 2 [Source:HGNC... |
7290 |
7290 |
HIRA |
histone cell cycle regulator [Sour... |
7298 |
7298 |
TYMS |
thymidylate synthetase [Source:HGN... |
7299 |
7299 |
TYR |
tyrosinase [Source:HGNC Symbol;Acc... |
7306 |
7306 |
TYRP1 |
tyrosinase related protein 1 [Sour... |
7319 |
7319 |
UBE2A |
ubiquitin conjugating enzyme E2 A ... |
7337 |
7337 |
UBE3A |
ubiquitin protein ligase E3A [Sour... |
7353 |
7353 |
UFD1 |
ubiquitin recognition factor in ER... |
7355 |
7355 |
SLC35A2 |
solute carrier family 35 member A2... |
7389 |
7389 |
UROD |
uroporphyrinogen decarboxylase [So... |
7390 |
7390 |
UROS |
uroporphyrinogen III synthase [Sou... |
7507 |
7507 |
XPA |
XPA, DNA damage recognition and re... |
7508 |
7508 |
XPC |
XPC complex subunit, DNA damage re... |
7516 |
7516 |
XRCC2 |
X-ray repair cross complementing 2... |
7681 |
7681 |
MKRN3 |
makorin ring finger protein 3 [Sou... |
79083 |
79083 |
MLPH |
melanophilin [Source:HGNC Symbol;A... |
791114 |
791114 |
PWRN1 |
Prader-Willi region non-protein co... |
79158 |
79158 |
GNPTAB |
N-acetylglucosamine-1-phosphate tr... |
79650 |
79650 |
USB1 |
U6 snRNA biogenesis phosphodiester... |
79728 |
79728 |
PALB2 |
partner and localizer of BRCA2 [So... |
79803 |
79803 |
HPS6 |
HPS6 biogenesis of lysosomal organ... |
79932 |
79932 |
KIAA0319L |
KIAA0319 like [Source:HGNC Symbol;... |
80169 |
80169 |
CTC1 |
CST telomere replication complex c... |
83938 |
83938 |
LRMDA |
leucine rich melanocyte differenti... |
83990 |
83990 |
BRIP1 |
BRCA1 interacting helicase 1 [Sour... |
84062 |
84062 |
DTNBP1 |
dystrobrevin binding protein 1 [So... |
84168 |
84168 |
ANTXR1 |
ANTXR cell adhesion molecule 1 [So... |
84343 |
84343 |
HPS3 |
HPS3 biogenesis of lysosomal organ... |
84464 |
84464 |
SLX4 |
SLX4 structure-specific endonuclea... |
84942 |
84942 |
WDR73 |
WD repeat domain 73 [Source:HGNC S... |
8517 |
8517 |
IKBKG |
inhibitor of nuclear factor kappa ... |
8546 |
8546 |
AP3B1 |
adaptor related protein complex 3 ... |
857 |
857 |
CAV1 |
caveolin 1 [Source:HGNC Symbol;Acc... |
8626 |
8626 |
TP63 |
tumor protein p63 [Source:HGNC Sym... |
875 |
875 |
CBS |
cystathionine beta-synthase [Sourc... |
8882 |
8882 |
ZPR1 |
ZPR1 zinc finger [Source:HGNC Symb... |
8924 |
8924 |
HERC2 |
HECT and RLD domain containing E3 ... |
8943 |
8943 |
AP3D1 |
adaptor related protein complex 3 ... |
89781 |
89781 |
HPS4 |
HPS4 biogenesis of lysosomal organ... |
91039 |
91039 |
DPP9 |
dipeptidyl peptidase 9 [Source:HGN... |
940 |
940 |
CD28 |
CD28 molecule [Source:HGNC Symbol;... |
9401 |
9401 |
RECQL4 |
RecQ like helicase 4 [Source:HGNC ... |
9419 |
9419 |
CRIPT |
CXXC repeat containing interactor ... |
9632 |
9632 |
SEC24C |
SEC24 homolog C, COPII coat comple... |
9652 |
9652 |
SKIC3 |
SKI3 subunit of superkiller comple... |
9935 |
9935 |
MAFB |
MAF bZIP transcription factor B [S... |