|
TMX2-CTNND1
|
|
TMX2-CTNND1 readthrough (NMD candidate)
|
|
138
|
0.538 |
0.769 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2019 |
2019 |
|
| Entrez Id: |
2481 |
| Gene Symbol: |
FRAXE |
FRAXE
|
|
fragile site, folic acid type, rare, fra(X)(q28) E
|
|
50
|
0.636 |
0.462 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2003 |
2003 |
|
| Entrez Id: |
3342 |
| Gene Symbol: |
HTC2 |
HTC2
|
|
hypertrichosis 2 (generalized, congenital)
|
|
511
|
0.392 |
0.808 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2007 |
2007 |
|
| Entrez Id: |
4397 |
| Gene Symbol: |
MS |
MS
|
|
multiple sclerosis
|
|
95
|
0.599 |
0.692 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2018 |
2018 |
|
| Entrez Id: |
4434 |
| Gene Symbol: |
MSD |
MSD
|
|
microcephaly with spastic diplegia (Paine syndrome)
|
|
35
|
0.674 |
0.654 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2019 |
2019 |
|
| 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: |
6476 |
| Gene Symbol: |
SI |
SI
|
P14410
|
sucrase-isomaltase
|
Enzyme
|
117
|
0.569 |
0.692 |
3.9E-60 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
|
| Entrez Id: |
54790 |
| Gene Symbol: |
TET2 |
TET2
|
Q6N021
|
tet methylcytosine dioxygenase 2
|
|
362
|
0.458 |
0.808 |
4.3E-54 |
0.010 |
None
|
1.000 |
1
|
0
|
2019 |
2019 |
|
| Entrez Id: |
157680 |
| Gene Symbol: |
VPS13B |
VPS13B
|
Q7Z7G8
|
vacuolar protein sorting 13 homolog B
|
|
158
|
0.579 |
0.769 |
2.5E-45 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
8972 |
| Gene Symbol: |
MGAM |
MGAM
|
O43451
|
maltase-glucoamylase
|
Enzyme
|
95
|
0.592 |
0.615 |
1.0E-35 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
|
| Entrez Id: |
26160 |
| Gene Symbol: |
IFT172 |
IFT172
|
Q9UG01
|
intraflagellar transport 172
|
Cellular structure
|
123
|
0.582 |
0.654 |
3.3E-33 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
3034 |
| Gene Symbol: |
HAL |
HAL
|
P42357
|
histidine ammonia-lyase
|
|
57
|
0.641 |
0.538 |
2.5E-23 |
0.100 |
None
|
|
0
|
0
|
|
|
|
CDK5RAP2
|
Q96SN8
|
CDK5 regulatory subunit associated protein 2
|
|
42
|
0.682 |
0.577 |
4.6E-23 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
|
| Entrez Id: |
501 |
| Gene Symbol: |
ALDH7A1 |
ALDH7A1
|
P49419
|
aldehyde dehydrogenase 7 family member A1
|
Enzyme
|
141
|
0.551 |
0.769 |
1.4E-22 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
5172 |
| Gene Symbol: |
SLC26A4 |
SLC26A4
|
O43511
|
solute carrier family 26 member 4
|
Transporter
|
194
|
0.507 |
0.885 |
9.0E-22 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
4621 |
| Gene Symbol: |
MYH3 |
MYH3
|
P11055
|
myosin heavy chain 3
|
|
160
|
0.563 |
0.654 |
6.7E-21 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
6916 |
| Gene Symbol: |
TBXAS1 |
TBXAS1
|
P24557
|
thromboxane A synthase 1
|
|
77
|
0.619 |
0.615 |
1.4E-20 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
Q8WZA1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
188
|
0.537 |
0.538 |
1.9E-20 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
1593 |
| Gene Symbol: |
CYP27A1 |
CYP27A1
|
Q02318
|
cytochrome P450 family 27 subfamily A member 1
|
Enzyme
|
167
|
0.538 |
0.731 |
5.3E-19 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
4126 |
| Gene Symbol: |
MANBA |
MANBA
|
O00462
|
mannosidase beta
|
Enzyme
|
38
|
0.736 |
0.462 |
1.3E-18 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
9897 |
| Gene Symbol: |
WASHC5 |
WASHC5
|
Q12768
|
WASH complex subunit 5
|
Transporter
|
129
|
0.572 |
0.615 |
8.3E-18 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
583 |
| Gene Symbol: |
BBS2 |
BBS2
|
Q9BXC9
|
Bardet-Biedl syndrome 2
|
|
128
|
0.565 |
0.654 |
1.0E-17 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
4867 |
| Gene Symbol: |
NPHP1 |
NPHP1
|
O15259
|
nephrocystin 1
|
|
126
|
0.572 |
0.731 |
1.2E-17 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
27241 |
| Gene Symbol: |
BBS9 |
BBS9
|
Q3SYG4
|
Bardet-Biedl syndrome 9
|
|
82
|
0.615 |
0.577 |
4.2E-17 |
0.100 |
None
|
|
0
|
0
|
|
|
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
Q9Y6A1
|
protein O-mannosyltransferase 1
|
|
223
|
0.525 |
0.615 |
4.2E-17 |
0.100 |
None
|
|
0
|
0
|
|
|