Source Id |
NCBI (Entrez) Gene Id |
Gene Symbol |
Gene Description |
100033413 |
100033413 |
SNORD116-1 |
small nucleolar RNA, C/D box 116-1... |
10083 |
10083 |
USH1C |
USH1 protein network component har... |
10277 |
10277 |
UBE4B |
ubiquitination factor E4B [Source:... |
10518 |
10518 |
CIB2 |
calcium and integrin binding famil... |
10630 |
10630 |
PDPN |
podoplanin [Source:HGNC Symbol;Acc... |
11234 |
11234 |
HPS5 |
HPS5 biogenesis of lysosomal organ... |
1130 |
1130 |
LYST |
lysosomal trafficking regulator [S... |
124590 |
124590 |
USH1G |
USH1 protein network component san... |
145624 |
145624 |
PWAR1 |
Prader Willi/Angelman region RNA 1... |
22901 |
22901 |
ARSG |
arylsulfatase G [Source:HGNC Symbo... |
23013 |
23013 |
SPEN |
spen family transcriptional repres... |
23742 |
23742 |
NPAP1 |
nuclear pore associated protein 1 ... |
2563 |
2563 |
GABRD |
gamma-aminobutyric acid type A rec... |
25861 |
25861 |
WHRN |
whirlin [Source:HGNC Symbol;Acc:HG... |
26258 |
26258 |
BLOC1S6 |
biogenesis of lysosomal organelles... |
284058 |
284058 |
KANSL1 |
KAT8 regulatory NSL complex subuni... |
3035 |
3035 |
HARS1 |
histidyl-tRNA synthetase 1 [Source... |
3257 |
3257 |
HPS1 |
HPS1 biogenesis of lysosomal organ... |
3339 |
3339 |
HSPG2 |
heparan sulfate proteoglycan 2 [So... |
338433 |
338433 |
SNORD115-1 |
small nucleolar RNA, C/D box 115-1... |
3617 |
3617 |
IMPG1 |
interphotoreceptor matrix proteogl... |
3653 |
|
|
|
388552 |
388552 |
BLOC1S3 |
biogenesis of lysosomal organelles... |
4157 |
4157 |
MC1R |
melanocortin 1 receptor [Source:HG... |
4575 |
4575 |
MT-TS2 |
mitochondrially encoded tRNA-Ser (... |
4644 |
4644 |
MYO5A |
myosin VA [Source:HGNC Symbol;Acc:... |
4647 |
4647 |
MYO7A |
myosin VIIA [Source:HGNC Symbol;Ac... |
4692 |
4692 |
NDN |
necdin, MAGE family member [Source... |
473 |
473 |
RERE |
arginine-glutamic acid dipeptide r... |
4935 |
4935 |
GPR143 |
G protein-coupled receptor 143 [So... |
4948 |
4948 |
OCA2 |
OCA2 melanosomal transmembrane pro... |
50939 |
50939 |
IMPG2 |
interphotoreceptor matrix proteogl... |
51151 |
51151 |
SLC45A2 |
solute carrier family 45 member 2 ... |
5308 |
5308 |
PITX2 |
paired like homeodomain 2 [Source:... |
54551 |
54551 |
MAGEL2 |
MAGE family member L2 [Source:HGNC... |
54897 |
54897 |
CASZ1 |
castor zinc finger 1 [Source:HGNC ... |
5590 |
5590 |
PRKCZ |
protein kinase C zeta [Source:HGNC... |
57194 |
57194 |
ATP10A |
ATPase phospholipid transporting 1... |
57724 |
57724 |
EPG5 |
ectopic P-granules 5 autophagy tet... |
5873 |
5873 |
RAB27A |
RAB27A, member RAS oncogene family... |
5961 |
5961 |
PRPH2 |
peripherin 2 [Source:HGNC Symbol;A... |
63915 |
63915 |
BLOC1S5 |
biogenesis of lysosomal organelles... |
63976 |
63976 |
PRDM16 |
PR/SET domain 16 [Source:HGNC Symb... |
64072 |
64072 |
CDH23 |
cadherin related 23 [Source:HGNC S... |
64132 |
64132 |
XYLT2 |
xylosyltransferase 2 [Source:HGNC ... |
6497 |
6497 |
SKI |
SKI proto-oncogene [Source:HGNC Sy... |
65217 |
65217 |
PCDH15 |
protocadherin related 15 [Source:H... |
6638 |
6638 |
SNRPN |
small nuclear ribonucleoprotein po... |
6663 |
6663 |
SOX10 |
SRY-box transcription factor 10 [S... |
7299 |
7299 |
TYR |
tyrosinase [Source:HGNC Symbol;Acc... |
7306 |
7306 |
TYRP1 |
tyrosinase related protein 1 [Sour... |
7337 |
7337 |
UBE3A |
ubiquitin protein ligase E3A [Sour... |
7399 |
7399 |
USH2A |
usherin [Source:HGNC Symbol;Acc:HG... |
7401 |
7401 |
CLRN1 |
clarin 1 [Source:HGNC Symbol;Acc:H... |
7439 |
7439 |
BEST1 |
bestrophin 1 [Source:HGNC Symbol;A... |
7681 |
7681 |
MKRN3 |
makorin ring finger protein 3 [Sou... |
7798 |
7798 |
LUZP1 |
leucine zipper protein 1 [Source:H... |
79083 |
79083 |
MLPH |
melanophilin [Source:HGNC Symbol;A... |
791114 |
791114 |
PWRN1 |
Prader-Willi region non-protein co... |
79803 |
79803 |
HPS6 |
HPS6 biogenesis of lysosomal organ... |
79955 |
79955 |
PDZD7 |
PDZ domain containing 7 [Source:HG... |
83715 |
83715 |
ESPN |
espin [Source:HGNC Symbol;Acc:HGNC... |
84059 |
84059 |
ADGRV1 |
adhesion G protein-coupled recepto... |
84062 |
84062 |
DTNBP1 |
dystrobrevin binding protein 1 [So... |
84131 |
84131 |
CEP78 |
centrosomal protein 78 [Source:HGN... |
8510 |
8510 |
MMP23B |
matrix metallopeptidase 23B [Sourc... |
8514 |
8514 |
KCNAB2 |
potassium voltage-gated channel su... |
8546 |
8546 |
AP3B1 |
adaptor related protein complex 3 ... |
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... |