FRAXE |
|
fragile site, folic acid type, rare, fra(X)(q28) E
|
|
|
0.636 |
0.462 |
HTC2 |
|
hypertrichosis 2 (generalized, congenital)
|
|
|
0.392 |
0.808 |
RSS |
|
Russell Silver syndrome
|
|
|
0.578 |
0.692 |
MIR137 |
|
microRNA 137
|
|
|
0.513 |
0.846 |
PTLS |
|
Potocki-Lupski syndrome
|
|
|
0.780 |
0.308 |
DEL11P13 |
|
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
|
|
|
0.716 |
0.538 |
RN7SL263P |
|
RNA, 7SL, cytoplasmic 263, pseudogene
|
|
|
0.496 |
0.808 |
UBA6 |
A0AVT1
|
ubiquitin like modifier activating enzyme 6
|
Enzyme
|
3.7E-09 |
0.821 |
0.154 |
MACROD2 |
A1Z1Q3
|
mono-ADP ribosylhydrolase 2
|
|
0.43 |
0.686 |
0.423 |
SBNO1 |
A3KN83
|
strawberry notch homolog 1
|
Enzyme
|
1.00 |
0.686 |
0.500 |
PSD |
A5PKW4
|
pleckstrin and Sec7 domain containing
|
|
0.90 |
0.626 |
0.654 |
TLR4 |
O00206
|
toll like receptor 4
|
|
4.6E-09 |
0.321 |
0.962 |
PSMD12 |
O00232
|
proteasome 26S subunit, non-ATPase 12
|
Enzyme modulator
|
1.00 |
0.578 |
0.808 |
PIK3CD |
O00329
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
|
Kinase
|
1.00 |
0.319 |
0.885 |
SLC33A1 |
O00400
|
solute carrier family 33 member 1
|
Transporter
|
9.9E-05 |
0.529 |
0.769 |
CACNA1A |
O00555
|
calcium voltage-gated channel subunit alpha1 A
|
Ion channel
|
1.00 |
0.489 |
0.769 |
PEX7 |
O00628
|
peroxisomal biogenesis factor 7
|
|
8.2E-13 |
0.603 |
0.615 |
NFIB |
O00712
|
nuclear factor I B
|
Nucleic acid binding
|
1.00 |
0.573 |
0.654 |
CUX2 |
O14529
|
cut like homeobox 2
|
Transcription factor
|
1.00 |
0.644 |
0.500 |
CHD2 |
O14647
|
chromodomain helicase DNA binding protein 2
|
|
1.00 |
0.585 |
0.577 |
TERT |
O14746
|
telomerase reverse transcriptase
|
Enzyme
|
0.99 |
0.374 |
0.846 |
BCKDK |
O14874
|
branched chain keto acid dehydrogenase kinase
|
Kinase
|
5.7E-05 |
0.769 |
0.154 |
CASK |
O14936
|
calcium/calmodulin dependent serine protein kinase
|
Kinase
|
1.00 |
0.538 |
0.808 |
PPP1R2C |
O14990
|
PPP1R2C family member C
|
Enzyme modulator
|
|
0.478 |
0.846 |
SETD1A |
O15047
|
SET domain containing 1A, histone lysine methyltransferase
|
|
1.00 |
0.619 |
0.615 |