Entrez Id: |
3342 |
Gene Symbol: |
HTC2 |
HTC2
|
|
hypertrichosis 2 (generalized, congenital)
|
|
511
|
0.392 |
0.808 |
|
0.020 |
None
|
1.000 |
2
|
0
|
2010 |
2013 |
Entrez Id: |
57760 |
Gene Symbol: |
SPG16 |
SPG16
|
|
spastic paraplegia 16 (complicated, X-linked recessive)
|
|
18
|
0.722 |
0.423 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
Entrez Id: |
100151683 |
Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
199
|
0.556 |
0.808 |
|
0.100 |
None
|
|
0
|
0
|
|
|
NPHP3-ACAD11
|
|
NPHP3-ACAD11 readthrough (NMD candidate)
|
|
82
|
0.663 |
0.577 |
|
0.100 |
None
|
|
0
|
2
|
|
|
Entrez Id: |
150094 |
Gene Symbol: |
SIK1 |
SIK1
|
A0A0B4J2F2 P57059
|
salt inducible kinase 1
|
Kinase
|
157
|
0.544 |
0.731 |
0.94 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
729920 |
Gene Symbol: |
CRPPA |
CRPPA
|
A4D126
|
CDP-L-ribitol pyrophosphorylase A
|
|
134
|
0.566 |
0.654 |
2.5E-04 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
3796 |
Gene Symbol: |
KIF2A |
KIF2A
|
O00139
|
kinesin family member 2A
|
Cellular structure
|
81
|
0.590 |
0.731 |
1.00 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
9179 |
Gene Symbol: |
AP4M1 |
AP4M1
|
O00189
|
adaptor related protein complex 4 subunit mu 1
|
Extracellular structure
|
78
|
0.638 |
0.500 |
4.5E-17 |
0.100 |
None
|
|
0
|
1
|
|
|
Entrez Id: |
5296 |
Gene Symbol: |
PIK3R2 |
PIK3R2
|
O00459
|
phosphoinositide-3-kinase regulatory subunit 2
|
Enzyme modulator
|
120
|
0.551 |
0.808 |
1.6E-02 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
1654 |
Gene Symbol: |
DDX3X |
DDX3X
|
O00571
|
DEAD-box helicase 3 X-linked
|
|
180
|
0.537 |
0.769 |
1.00 |
0.100 |
None
|
|
0
|
1
|
|
|
Entrez Id: |
8289 |
Gene Symbol: |
ARID1A |
ARID1A
|
O14497
|
AT-rich interaction domain 1A
|
|
341
|
0.455 |
0.846 |
1.00 |
0.100 |
None
|
|
0
|
1
|
|
|
Entrez Id: |
11128 |
Gene Symbol: |
POLR3A |
POLR3A
|
O14802
|
RNA polymerase III subunit A
|
Enzyme
|
219
|
0.538 |
0.769 |
1.3E-23 |
0.110 |
None
|
1.000 |
1
|
0
|
2015 |
2015 |
Entrez Id: |
8825 |
Gene Symbol: |
LIN7A |
LIN7A
|
O14910
|
lin-7 homolog A, crumbs cell polarity complex component
|
Cell-cell junction
|
24
|
0.736 |
0.385 |
1.1E-07 |
0.010 |
None
|
1.000 |
1
|
0
|
2014 |
2014 |
Entrez Id: |
8573 |
Gene Symbol: |
CASK |
CASK
|
O14936
|
calcium/calmodulin dependent serine protein kinase
|
Kinase
|
193
|
0.538 |
0.808 |
1.00 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
9895 |
Gene Symbol: |
TECPR2 |
TECPR2
|
O15040
|
tectonin beta-propeller repeat containing 2
|
|
51
|
0.663 |
0.423 |
0.58 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
80184 |
Gene Symbol: |
CEP290 |
CEP290
|
O15078
|
centrosomal protein 290
|
|
196
|
0.517 |
0.769 |
1.1E-60 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
9533 |
Gene Symbol: |
POLR1C |
POLR1C
|
O15160
|
RNA polymerase I and III subunit C
|
Enzyme
|
86
|
0.595 |
0.615 |
6.3E-10 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
26227 |
Gene Symbol: |
PHGDH |
PHGDH
|
O43175
|
phosphoglycerate dehydrogenase
|
Enzyme
|
288
|
0.484 |
0.885 |
1.3E-04 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
9907 |
Gene Symbol: |
AP5Z1 |
AP5Z1
|
O43299
|
adaptor related protein complex 5 subunit zeta 1
|
|
47
|
0.700 |
0.346 |
7.3E-31 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
284403 |
Gene Symbol: |
WDR62 |
WDR62
|
O43379
|
WD repeat domain 62
|
|
83
|
0.597 |
0.615 |
2.4E-23 |
0.110 |
None
|
1.000 |
1
|
0
|
2010 |
2010 |
Entrez Id: |
8867 |
Gene Symbol: |
SYNJ1 |
SYNJ1
|
O43426
|
synaptojanin 1
|
Enzyme
|
128
|
0.576 |
0.577 |
0.43 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
51360 |
Gene Symbol: |
MBTPS2 |
MBTPS2
|
O43462
|
membrane bound transcription factor peptidase, site 2
|
Enzyme
|
205
|
0.513 |
0.769 |
1.00 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
27429 |
Gene Symbol: |
HTRA2 |
HTRA2
|
O43464
|
HtrA serine peptidase 2
|
|
151
|
0.542 |
0.692 |
3.6E-03 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
3785 |
Gene Symbol: |
KCNQ2 |
KCNQ2
|
O43526
|
potassium voltage-gated channel subfamily Q member 2
|
Ion channel
|
175
|
0.537 |
0.654 |
1.00 |
0.100 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
11342 |
Gene Symbol: |
RNF13 |
RNF13
|
O43567
|
ring finger protein 13
|
|
33
|
0.722 |
0.346 |
4.0E-04 |
0.100 |
None
|
|
0
|
0
|
|
|