HTC2 |
|
hypertrichosis 2 (generalized, congenital)
|
|
|
0.392 |
0.808 |
NEFL |
P07196
|
neurofilament light
|
|
|
0.488 |
0.769 |
RNU4ATAC |
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
|
0.556 |
0.808 |
HSP90B2P |
Q58FF3
|
heat shock protein 90 beta family member 2, pseudogene
|
Chaperone
|
|
0.558 |
0.846 |
NPHP3-ACAD11 |
|
NPHP3-ACAD11 readthrough (NMD candidate)
|
|
|
0.663 |
0.577 |
SPG16 |
|
spastic paraplegia 16 (complicated, X-linked recessive)
|
|
|
0.722 |
0.423 |
DNAH7 |
Q8WXX0
|
dynein axonemal heavy chain 7
|
Enzyme
|
1.4E-71 |
0.769 |
0.346 |
CEP290 |
O15078
|
centrosomal protein 290
|
|
1.1E-60 |
0.517 |
0.769 |
PCNT |
O95613
|
pericentrin
|
|
4.0E-58 |
0.564 |
0.808 |
ASPM |
Q8IZT6
|
abnormal spindle microtubule assembly
|
|
3.4E-49 |
0.526 |
0.769 |
IFIH1 |
Q9BYX4
|
interferon induced with helicase C domain 1
|
|
7.0E-44 |
0.471 |
0.808 |
SPG11 |
Q96JI7
|
SPG11 vesicle trafficking associated, spatacsin
|
|
1.6E-39 |
0.576 |
0.538 |
RTTN |
Q86VV8
|
rotatin
|
|
9.0E-34 |
0.619 |
0.654 |
AP5Z1 |
O43299
|
adaptor related protein complex 5 subunit zeta 1
|
|
7.3E-31 |
0.700 |
0.346 |
CSPP1 |
Q1MSJ5
|
centrosome and spindle pole associated protein 1
|
|
3.3E-29 |
0.544 |
0.769 |
PRSS12 |
P56730
|
serine protease 12
|
Enzyme
|
8.4E-29 |
0.682 |
0.308 |
VWA3B |
Q502W6
|
von Willebrand factor A domain containing 3B
|
|
9.7E-28 |
0.729 |
0.154 |
EMC1 |
Q8N766
|
ER membrane protein complex subunit 1
|
|
6.7E-26 |
0.700 |
0.462 |
IFT122 |
Q9HBG6
|
intraflagellar transport 122
|
|
2.4E-24 |
0.560 |
0.846 |
SACS |
Q9NZJ4
|
sacsin molecular chaperone
|
|
1.1E-23 |
0.606 |
0.654 |
POLR3A |
O14802
|
RNA polymerase III subunit A
|
Enzyme
|
1.3E-23 |
0.538 |
0.769 |
POLR3B |
Q9NW08
|
RNA polymerase III subunit B
|
Enzyme
|
1.7E-23 |
0.628 |
0.654 |
WDR62 |
O43379
|
WD repeat domain 62
|
|
2.4E-23 |
0.597 |
0.615 |
ZFYVE26 |
Q68DK2
|
zinc finger FYVE-type containing 26
|
|
4.7E-23 |
0.636 |
0.615 |
PAH |
P00439
|
phenylalanine hydroxylase
|
|
6.4E-23 |
0.516 |
0.769 |