| FRAXA |
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
|
|
|
0.641 |
0.462 |
| HTC2 |
|
hypertrichosis 2 (generalized, congenital)
|
|
|
0.392 |
0.808 |
| CBLL2 |
Q8N7E2
|
Cbl proto-oncogene like 2
|
Enzyme
|
|
0.476 |
0.808 |
| DEL11P13 |
|
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
|
|
|
0.716 |
0.538 |
| FMR1-IT1 |
|
FMR1 intronic transcript 1
|
|
|
0.716 |
0.385 |
| VPS13B |
Q7Z7G8
|
vacuolar protein sorting 13 homolog B
|
|
2.5E-45 |
0.579 |
0.769 |
| ABCG2 |
Q9UNQ0
|
ATP binding cassette subfamily G member 2 (Junior blood group)
|
Transporter
|
2.1E-32 |
0.419 |
0.885 |
| SLC12A3 |
P55017
|
solute carrier family 12 member 3
|
Transporter
|
3.0E-32 |
0.493 |
0.808 |
| MCPH1 |
Q8NEM0
|
microcephalin 1
|
Nucleic acid binding
|
7.8E-30 |
0.540 |
0.846 |
| AHI1 |
Q8N157
|
Abelson helper integration site 1
|
|
1.1E-25 |
0.513 |
0.846 |
| PAH |
P00439
|
phenylalanine hydroxylase
|
|
6.4E-23 |
0.516 |
0.769 |
| WWOX |
Q9NZC7
|
WW domain containing oxidoreductase
|
Enzyme
|
1.2E-15 |
0.453 |
0.808 |
| ELN |
P15502
|
elastin
|
|
2.1E-14 |
0.415 |
0.885 |
| DYM |
Q7RTS9
|
dymeclin
|
|
3.6E-13 |
0.563 |
0.769 |
| DHCR7 |
Q9UBM7
|
7-dehydrocholesterol reductase
|
Enzyme
|
3.9E-13 |
0.500 |
0.846 |
| NEDD4 |
P46934
|
NEDD4 E3 ubiquitin protein ligase
|
Enzyme
|
8.7E-13 |
0.569 |
0.846 |
| TOR3A |
Q9H497
|
torsin family 3 member A
|
Chaperone
|
2.3E-12 |
0.861 |
0.231 |
| KRT7 |
P08729
|
keratin 7
|
|
3.1E-12 |
0.463 |
0.808 |
| CHL1 |
O00533
|
cell adhesion molecule L1 like
|
|
8.9E-12 |
0.603 |
0.654 |
| ADSL |
P30566
|
adenylosuccinate lyase
|
Enzyme
|
8.9E-12 |
0.631 |
0.654 |
| VLDLR |
P98155
|
very low density lipoprotein receptor
|
|
2.0E-11 |
0.558 |
0.692 |
| CAT |
P04040
|
catalase
|
Enzyme
|
1.6E-10 |
0.359 |
0.962 |
| MTHFR |
P42898
|
methylenetetrahydrofolate reductase
|
|
3.2E-10 |
0.337 |
0.885 |
| ASL |
P04424
|
argininosuccinate lyase
|
Enzyme
|
8.6E-10 |
0.593 |
0.731 |
| TMCO1 |
Q9UM00
|
transmembrane and coiled-coil domains 1
|
|
9.4E-10 |
0.588 |
0.654 |