|
| 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: |
4747 |
| Gene Symbol: |
NEFL |
NEFL
|
P07196
|
neurofilament light
|
|
247
|
0.488 |
0.769 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2016 |
2016 |
|
| 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 |
|
HSP90B2P
|
Q58FF3
|
heat shock protein 90 beta family member 2, pseudogene
|
Chaperone
|
110
|
0.558 |
0.846 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2001 |
2001 |
|
| 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: |
56171 |
| Gene Symbol: |
DNAH7 |
DNAH7
|
Q8WXX0
|
dynein axonemal heavy chain 7
|
Enzyme
|
16
|
0.769 |
0.346 |
1.4E-71 |
0.100 |
None
|
|
0
|
1
|
|
|
|
| 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: |
5116 |
| Gene Symbol: |
PCNT |
PCNT
|
O95613
|
pericentrin
|
|
156
|
0.564 |
0.808 |
4.0E-58 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
259266 |
| Gene Symbol: |
ASPM |
ASPM
|
Q8IZT6
|
abnormal spindle microtubule assembly
|
|
159
|
0.526 |
0.769 |
3.4E-49 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
64135 |
| Gene Symbol: |
IFIH1 |
IFIH1
|
Q9BYX4
|
interferon induced with helicase C domain 1
|
|
319
|
0.471 |
0.808 |
7.0E-44 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
80208 |
| Gene Symbol: |
SPG11 |
SPG11
|
Q96JI7
|
SPG11 vesicle trafficking associated, spatacsin
|
|
139
|
0.576 |
0.538 |
1.6E-39 |
0.200 |
None
|
1.000 |
26
|
2
|
2004 |
2019 |
|
| Entrez Id: |
25914 |
| Gene Symbol: |
RTTN |
RTTN
|
Q86VV8
|
rotatin
|
|
100
|
0.619 |
0.654 |
9.0E-34 |
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: |
79848 |
| Gene Symbol: |
CSPP1 |
CSPP1
|
Q1MSJ5
|
centrosome and spindle pole associated protein 1
|
|
170
|
0.544 |
0.769 |
3.3E-29 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
8492 |
| Gene Symbol: |
PRSS12 |
PRSS12
|
P56730
|
serine protease 12
|
Enzyme
|
50
|
0.682 |
0.308 |
8.4E-29 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
200403 |
| Gene Symbol: |
VWA3B |
VWA3B
|
Q502W6
|
von Willebrand factor A domain containing 3B
|
|
27
|
0.729 |
0.154 |
9.7E-28 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
23065 |
| Gene Symbol: |
EMC1 |
EMC1
|
Q8N766
|
ER membrane protein complex subunit 1
|
|
38
|
0.700 |
0.462 |
6.7E-26 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
55764 |
| Gene Symbol: |
IFT122 |
IFT122
|
Q9HBG6
|
intraflagellar transport 122
|
|
135
|
0.560 |
0.846 |
2.4E-24 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
|
| Entrez Id: |
26278 |
| Gene Symbol: |
SACS |
SACS
|
Q9NZJ4
|
sacsin molecular chaperone
|
|
106
|
0.606 |
0.654 |
1.1E-23 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| 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: |
55703 |
| Gene Symbol: |
POLR3B |
POLR3B
|
Q9NW08
|
RNA polymerase III subunit B
|
Enzyme
|
71
|
0.628 |
0.654 |
1.7E-23 |
0.110 |
None
|
1.000 |
1
|
0
|
2016 |
2016 |
|
| 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: |
23503 |
| Gene Symbol: |
ZFYVE26 |
ZFYVE26
|
Q68DK2
|
zinc finger FYVE-type containing 26
|
|
79
|
0.636 |
0.615 |
4.7E-23 |
0.180 |
None
|
1.000 |
8
|
0
|
2009 |
2019 |
|
| Entrez Id: |
5053 |
| Gene Symbol: |
PAH |
PAH
|
P00439
|
phenylalanine hydroxylase
|
|
219
|
0.516 |
0.769 |
6.4E-23 |
0.100 |
None
|
|
0
|
0
|
|
|