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 |
RSS |
|
Russell Silver syndrome
|
|
|
0.578 |
0.692 |
LINC01672 |
|
long intergenic non-protein coding RNA 1672
|
|
|
0.462 |
0.846 |
FMR1-IT1 |
|
FMR1 intronic transcript 1
|
|
|
0.716 |
0.385 |
PIK3CD |
O00329
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
|
Kinase
|
1.00 |
0.319 |
0.885 |
GABRD |
O14764
|
gamma-aminobutyric acid type A receptor subunit delta
|
Ion channel
|
0.99 |
0.558 |
0.692 |
ARHGEF9 |
O43307
|
Cdc42 guanine nucleotide exchange factor 9
|
Enzyme modulator
|
1.00 |
0.691 |
0.385 |
KCNQ2 |
O43526
|
potassium voltage-gated channel subfamily Q member 2
|
Ion channel
|
1.00 |
0.537 |
0.654 |
DSCAM |
O60469
|
DS cell adhesion molecule
|
|
1.00 |
0.686 |
0.385 |
TOP3B |
O95985
|
DNA topoisomerase III beta
|
Enzyme
|
2.1E-04 |
0.769 |
0.269 |
SOD1 |
P00441
|
superoxide dismutase 1
|
Enzyme
|
0.18 |
0.379 |
0.962 |
AVP |
P01185
|
arginine vasopressin
|
Signaling
|
7.4E-02 |
0.437 |
0.846 |
VIP |
P01282
|
vasoactive intestinal peptide
|
Signaling
|
4.2E-04 |
0.437 |
0.846 |
IGF2 |
P01344
|
insulin like growth factor 2
|
|
4.4E-02 |
0.390 |
0.885 |
STATH |
P02808
|
statherin
|
|
8.0E-05 |
0.608 |
0.769 |
CAT |
P04040
|
catalase
|
Enzyme
|
1.6E-10 |
0.359 |
0.962 |
IGF1 |
P05019
|
insulin like growth factor 1
|
|
0.27 |
0.318 |
0.885 |
APP |
P05067
|
amyloid beta precursor protein
|
Enzyme modulator
|
4.7E-02 |
0.422 |
0.846 |
IL6 |
P05231
|
interleukin 6
|
|
0.32 |
0.248 |
0.962 |
EIF4E |
P06730
|
eukaryotic translation initiation factor 4E
|
Nucleic acid binding
|
0.94 |
0.448 |
0.846 |
APRT |
P07741
|
adenine phosphoribosyltransferase
|
|
5.5E-13 |
0.423 |
0.846 |
DLD |
P09622
|
dihydrolipoamide dehydrogenase
|
Enzyme
|
9.5E-03 |
0.517 |
0.769 |
SKI |
P12755
|
SKI proto-oncogene
|
|
1.00 |
0.503 |
0.808 |
MMP9 |
P14780
|
matrix metallopeptidase 9
|
Enzyme
|
1.9E-17 |
0.305 |
0.923 |