Source Id |
NCBI (Entrez) Gene Id |
Gene Symbol |
Gene Description |
10128 |
10128 |
LRPPRC |
leucine rich pentatricopeptide repeat cont... |
10161 |
10161 |
LPAR6 |
lysophosphatidic acid receptor 6 [Source:H... |
10804 |
10804 |
GJB6 |
gap junction protein beta 6 [Source:HGNC S... |
11152 |
11152 |
WDR45 |
WD repeat domain 45 [Source:HGNC Symbol;Ac... |
1123 |
1123 |
CHN1 |
chimerin 1 [Source:HGNC Symbol;Acc:HGNC:1943] |
11234 |
11234 |
HPS5 |
HPS5 biogenesis of lysosomal organelles co... |
112802 |
112802 |
KRT71 |
keratin 71 [Source:HGNC Symbol;Acc:HGNC:28... |
1130 |
1130 |
LYST |
lysosomal trafficking regulator [Source:HG... |
1186 |
1186 |
CLCN7 |
chloride voltage-gated channel 7 [Source:H... |
121391 |
121391 |
KRT74 |
keratin 74 [Source:HGNC Symbol;Acc:HGNC:28... |
147183 |
147183 |
KRT25 |
keratin 25 [Source:HGNC Symbol;Acc:HGNC:30... |
1497 |
1497 |
CTNS |
cystinosin, lysosomal cystine transporter ... |
1638 |
1638 |
DCT |
dopachrome tautomerase [Source:HGNC Symbol... |
1717 |
1717 |
DHCR7 |
7-dehydrocholesterol reductase [Source:HGN... |
1736 |
1736 |
DKC1 |
dyskerin pseudouridine synthase 1 [Source:... |
1908 |
1908 |
EDN3 |
endothelin 3 [Source:HGNC Symbol;Acc:HGNC:... |
1910 |
1910 |
EDNRB |
endothelin receptor type B [Source:HGNC Sy... |
197131 |
197131 |
UBR1 |
ubiquitin protein ligase E3 component n-re... |
20 |
20 |
ABCA2 |
ATP binding cassette subfamily A member 2 ... |
200879 |
200879 |
LIPH |
lipase H [Source:HGNC Symbol;Acc:HGNC:18483] |
2261 |
2261 |
FGFR3 |
fibroblast growth factor receptor 3 [Sourc... |
23556 |
23556 |
PIGN |
phosphatidylinositol glycan anchor biosynt... |
25778 |
25778 |
DSTYK |
dual serine/threonine and tyrosine protein... |
26191 |
26191 |
PTPN22 |
protein tyrosine phosphatase non-receptor ... |
26277 |
26277 |
TINF2 |
TERF1 interacting nuclear factor 2 [Source... |
26503 |
26503 |
SLC17A5 |
solute carrier family 17 member 5 [Source:... |
283652 |
283652 |
SLC24A5 |
solute carrier family 24 member 5 [Source:... |
284058 |
284058 |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 [Sou... |
28956 |
28956 |
LAMTOR2 |
late endosomal/lysosomal adaptor, MAPK and... |
3257 |
3257 |
HPS1 |
HPS1 biogenesis of lysosomal organelles co... |
3265 |
3265 |
HRAS |
HRas proto-oncogene, GTPase [Source:HGNC S... |
355 |
355 |
FAS |
Fas cell surface death receptor [Source:HG... |
374879 |
374879 |
ZNF699 |
zinc finger protein 699 [Source:HGNC Symbo... |
3815 |
3815 |
KIT |
KIT proto-oncogene, receptor tyrosine kina... |
388552 |
388552 |
BLOC1S3 |
biogenesis of lysosomal organelles complex... |
4000 |
4000 |
LMNA |
lamin A/C [Source:HGNC Symbol;Acc:HGNC:6636] |
4157 |
4157 |
MC1R |
melanocortin 1 receptor [Source:HGNC Symbo... |
4254 |
4254 |
KITLG |
KIT ligand [Source:HGNC Symbol;Acc:HGNC:6343] |
4286 |
4286 |
MITF |
melanocyte inducing transcription factor [... |
4644 |
4644 |
MYO5A |
myosin VA [Source:HGNC Symbol;Acc:HGNC:7602] |
4692 |
4692 |
NDN |
necdin, MAGE family member [Source:HGNC Sy... |
472 |
472 |
ATM |
ATM serine/threonine kinase [Source:HGNC S... |
4869 |
4869 |
NPM1 |
nucleophosmin 1 [Source:HGNC Symbol;Acc:HG... |
4948 |
4948 |
OCA2 |
OCA2 melanosomal transmembrane protein [So... |
5053 |
5053 |
PAH |
phenylalanine hydroxylase [Source:HGNC Sym... |
5073 |
5073 |
PARN |
poly(A)-specific ribonuclease [Source:HGNC... |
5077 |
5077 |
PAX3 |
paired box 3 [Source:HGNC Symbol;Acc:HGNC:... |
51151 |
51151 |
SLC45A2 |
solute carrier family 45 member 2 [Source:... |
5144 |
5144 |
PDE4D |
phosphodiesterase 4D [Source:HGNC Symbol;A... |
51702 |
51702 |
PADI3 |
peptidyl arginine deiminase 3 [Source:HGNC... |
51750 |
51750 |
RTEL1 |
regulator of telomere elongation helicase ... |
5184 |
5184 |
PEPD |
peptidase D [Source:HGNC Symbol;Acc:HGNC:8... |
538 |
538 |
ATP7A |
ATPase copper transporting alpha [Source:H... |
54499 |
54499 |
TMCO1 |
transmembrane and coiled-coil domains 1 [S... |
54551 |
54551 |
MAGEL2 |
MAGE family member L2 [Source:HGNC Symbol;... |
55135 |
55135 |
WRAP53 |
WD repeat containing antisense to TP53 [So... |
55505 |
55505 |
NOP10 |
NOP10 ribonucleoprotein [Source:HGNC Symbo... |
55651 |
55651 |
NHP2 |
NHP2 ribonucleoprotein [Source:HGNC Symbol... |
57167 |
57167 |
SALL4 |
spalt like transcription factor 4 [Source:... |
57194 |
57194 |
ATP10A |
ATPase phospholipid transporting 10A (puta... |
57724 |
57724 |
EPG5 |
ectopic P-granules 5 autophagy tethering f... |
5873 |
5873 |
RAB27A |
RAB27A, member RAS oncogene family [Source... |
6023 |
6023 |
RMRP |
RNA component of mitochondrial RNA process... |
63915 |
63915 |
BLOC1S5 |
biogenesis of lysosomal organelles complex... |
6492 |
6492 |
SIM1 |
SIM bHLH transcription factor 1 [Source:HG... |
6499 |
6499 |
SKIC2 |
SKI2 subunit of superkiller complex [Sourc... |
65057 |
65057 |
ACD |
ACD shelterin complex subunit and telomera... |
6591 |
6591 |
SNAI2 |
snail family transcriptional repressor 2 [... |
6638 |
6638 |
SNRPN |
small nuclear ribonucleoprotein polypeptid... |
6663 |
6663 |
SOX10 |
SRY-box transcription factor 10 [Source:HG... |
6901 |
6901 |
TAFAZZIN |
tafazzin, phospholipid-lysophospholipid tr... |
7012 |
7012 |
TERC |
telomerase RNA component [Source:HGNC Symb... |
7015 |
7015 |
TERT |
telomerase reverse transcriptase [Source:H... |
7020 |
7020 |
TFAP2A |
transcription factor AP-2 alpha [Source:HG... |
7053 |
7053 |
TGM3 |
transglutaminase 3 [Source:HGNC Symbol;Acc... |
7298 |
7298 |
TYMS |
thymidylate synthetase [Source:HGNC Symbol... |
7299 |
7299 |
TYR |
tyrosinase [Source:HGNC Symbol;Acc:HGNC:12... |
7306 |
7306 |
TYRP1 |
tyrosinase related protein 1 [Source:HGNC ... |
7337 |
7337 |
UBE3A |
ubiquitin protein ligase E3A [Source:HGNC ... |
7486 |
7486 |
WRN |
WRN RecQ like helicase [Source:HGNC Symbol... |
7841 |
7841 |
MOGS |
mannosyl-oligosaccharide glucosidase [Sour... |
79083 |
79083 |
MLPH |
melanophilin [Source:HGNC Symbol;Acc:HGNC:... |
79158 |
79158 |
GNPTAB |
N-acetylglucosamine-1-phosphate transferas... |
79650 |
79650 |
USB1 |
U6 snRNA biogenesis phosphodiesterase 1 [S... |
79803 |
79803 |
HPS6 |
HPS6 biogenesis of lysosomal organelles co... |
80169 |
80169 |
CTC1 |
CST telomere replication complex component... |
83938 |
83938 |
LRMDA |
leucine rich melanocyte differentiation as... |
84062 |
84062 |
DTNBP1 |
dystrobrevin binding protein 1 [Source:HGN... |
84343 |
84343 |
HPS3 |
HPS3 biogenesis of lysosomal organelles co... |
8546 |
8546 |
AP3B1 |
adaptor related protein complex 3 subunit ... |
8626 |
8626 |
TP63 |
tumor protein p63 [Source:HGNC Symbol;Acc:... |
8943 |
8943 |
AP3D1 |
adaptor related protein complex 3 subunit ... |
89781 |
89781 |
HPS4 |
HPS4 biogenesis of lysosomal organelles co... |
91039 |
91039 |
DPP9 |
dipeptidyl peptidase 9 [Source:HGNC Symbol... |
9652 |
9652 |
SKIC3 |
SKI3 subunit of superkiller complex [Sourc... |
9742 |
9742 |
IFT140 |
intraflagellar transport 140 [Source:HGNC ... |
9935 |
9935 |
MAFB |
MAF bZIP transcription factor B [Source:HG... |