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 |
DEL11P13 |
|
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
|
|
|
0.716 |
0.538 |
FMR1-IT1 |
|
FMR1 intronic transcript 1
|
|
|
0.716 |
0.385 |
MACROD2 |
A1Z1Q3
|
mono-ADP ribosylhydrolase 2
|
|
0.43 |
0.686 |
0.423 |
CHL1 |
O00533
|
cell adhesion molecule L1 like
|
|
8.9E-12 |
0.603 |
0.654 |
MEIS2 |
O14770
|
Meis homeobox 2
|
Enzyme
|
1.00 |
0.601 |
0.808 |
CASK |
O14936
|
calcium/calmodulin dependent serine protein kinase
|
Kinase
|
1.00 |
0.538 |
0.808 |
FOXP2 |
O15409
|
forkhead box P2
|
|
1.00 |
0.545 |
0.808 |
ARHGEF9 |
O43307
|
Cdc42 guanine nucleotide exchange factor 9
|
Enzyme modulator
|
1.00 |
0.691 |
0.385 |
TBX1 |
O43435
|
T-box transcription factor 1
|
Transcription factor
|
0.84 |
0.433 |
0.808 |
KCNQ2 |
O43526
|
potassium voltage-gated channel subfamily Q member 2
|
Ion channel
|
1.00 |
0.537 |
0.654 |
PRKN |
O60260
|
parkin RBR E3 ubiquitin protein ligase
|
Enzyme
|
6.9E-07 |
0.431 |
0.846 |
DSCAM |
O60469
|
DS cell adhesion molecule
|
|
1.00 |
0.686 |
0.385 |
ACSL4 |
O60488
|
acyl-CoA synthetase long chain family member 4
|
Enzyme
|
0.98 |
0.561 |
0.769 |
OPHN1 |
O60890
|
oligophrenin 1
|
Enzyme modulator
|
1.00 |
0.633 |
0.538 |
SLC25A12 |
O75746
|
solute carrier family 25 member 12
|
Transporter
|
0.22 |
0.711 |
0.462 |
CDKL5 |
O76039
|
cyclin dependent kinase like 5
|
Kinase
|
1.00 |
0.522 |
0.692 |
PAH |
P00439
|
phenylalanine hydroxylase
|
|
6.4E-23 |
0.516 |
0.769 |
SOD1 |
P00441
|
superoxide dismutase 1
|
Enzyme
|
0.18 |
0.379 |
0.962 |
HRAS |
P01112
|
HRas proto-oncogene, GTPase
|
Enzyme modulator
|
8.0E-02 |
0.378 |
0.885 |
GH1 |
P01241
|
growth hormone 1
|
Signaling
|
3.0E-02 |
0.373 |
0.923 |
APOE |
P02649
|
apolipoprotein E
|
|
1.9E-03 |
0.338 |
0.962 |
MBP |
P02686
|
myelin basic protein
|
|
0.28 |
0.510 |
0.885 |
ALB |
P02768
|
albumin
|
Transporter
|
0.64 |
0.317 |
0.962 |