| FRAXA |
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
|
|
|
0.641 |
0.462 |
| RNU4ATAC |
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
|
0.556 |
0.808 |
| PIK3CD |
O00329
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
|
Kinase
|
1.00 |
0.319 |
0.885 |
| DNM1L |
O00429
|
dynamin 1 like
|
Enzyme modulator
|
5.7E-04 |
0.475 |
0.808 |
| CACNA1A |
O00555
|
calcium voltage-gated channel subunit alpha1 A
|
Ion channel
|
1.00 |
0.489 |
0.769 |
| KMT2D |
O14686
|
lysine methyltransferase 2D
|
|
1.00 |
0.465 |
0.808 |
| TPP1 |
O14773
|
tripeptidyl peptidase 1
|
Enzyme
|
6.3E-07 |
0.551 |
0.808 |
| POLR3A |
O14802
|
RNA polymerase III subunit A
|
Enzyme
|
1.3E-23 |
0.538 |
0.769 |
| CPLX1 |
O14810
|
complexin 1
|
|
0.82 |
0.576 |
0.654 |
| SPTBN2 |
O15020
|
spectrin beta, non-erythrocytic 2
|
|
9.9E-05 |
0.619 |
0.731 |
| NPC1 |
O15118
|
NPC intracellular cholesterol transporter 1
|
Transporter
|
6.5E-06 |
0.518 |
0.692 |
| ATXN7 |
O15265
|
ataxin 7
|
|
0.96 |
0.581 |
0.654 |
| PMM2 |
O15305
|
phosphomannomutase 2
|
Enzyme
|
1.4E-17 |
0.535 |
0.769 |
| MID1 |
O15344
|
midline 1
|
|
0.98 |
0.621 |
0.654 |
| GRID2 |
O43424
|
glutamate ionotropic receptor delta type subunit 2
|
Ion channel
|
1.00 |
0.670 |
0.500 |
| CACNA1G |
O43497
|
calcium voltage-gated channel subunit alpha1 G
|
Ion channel
|
1.00 |
0.590 |
0.577 |
| KIF1C |
O43896
|
kinesin family member 1C
|
Cellular structure
|
0.72 |
0.700 |
0.500 |
| ADGRB3 |
O60242
|
adhesion G protein-coupled receptor B3
|
G-protein coupled receptor
|
1.00 |
0.736 |
0.192 |
| OPA1 |
O60313
|
OPA1 mitochondrial dynamin like GTPase
|
Enzyme modulator
|
0.99 |
0.510 |
0.846 |
| PEX10 |
O60683
|
peroxisomal biogenesis factor 10
|
|
5.4E-04 |
0.584 |
0.654 |
| PLA2G6 |
O60733
|
phospholipase A2 group VI
|
Enzyme modulator
|
2.5E-10 |
0.476 |
0.846 |
| OPHN1 |
O60890
|
oligophrenin 1
|
Enzyme modulator
|
1.00 |
0.633 |
0.538 |
| NBN |
O60934
|
nibrin
|
Nucleic acid binding
|
2.2E-16 |
0.467 |
0.808 |
| ABCB7 |
O75027
|
ATP binding cassette subfamily B member 7
|
Transporter
|
1.00 |
0.678 |
0.385 |
| DEAF1 |
O75398
|
DEAF1 transcription factor
|
|
3.4E-04 |
0.575 |
0.615 |