FRAXA |
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
|
|
|
0.641 |
0.462 |
ATP6 |
P00846
|
ATP synthase F0 subunit 6
|
Transporter
|
|
0.541 |
0.731 |
COX2 |
P00403
|
cytochrome c oxidase subunit II
|
Enzyme
|
|
0.352 |
0.962 |
RNU4ATAC |
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
|
0.556 |
0.808 |
NLRP2 |
Q9NX02
|
NLR family pyrin domain containing 2
|
|
1.4E-38 |
0.515 |
0.731 |
SAMD9 |
Q5K651
|
sterile alpha motif domain containing 9
|
|
1.1E-33 |
0.606 |
0.808 |
BRCA1 |
P38398
|
BRCA1 DNA repair associated
|
Enzyme
|
9.2E-29 |
0.367 |
0.923 |
TMEM67 |
Q5HYA8
|
transmembrane protein 67
|
|
2.1E-24 |
0.512 |
0.769 |
IFT140 |
Q96RY7
|
intraflagellar transport 140
|
Cellular structure
|
9.9E-24 |
0.572 |
0.692 |
SACS |
Q9NZJ4
|
sacsin molecular chaperone
|
|
1.1E-23 |
0.606 |
0.654 |
POLR3A |
O14802
|
RNA polymerase III subunit A
|
Enzyme
|
1.3E-23 |
0.538 |
0.769 |
POLR3B |
Q9NW08
|
RNA polymerase III subunit B
|
Enzyme
|
1.7E-23 |
0.628 |
0.654 |
PAH |
P00439
|
phenylalanine hydroxylase
|
|
6.4E-23 |
0.516 |
0.769 |
KIF7 |
Q2M1P5
|
kinesin family member 7
|
|
2.3E-22 |
0.528 |
0.731 |
TPO |
P07202
|
thyroid peroxidase
|
Enzyme
|
1.8E-21 |
0.455 |
0.846 |
PMM2 |
O15305
|
phosphomannomutase 2
|
Enzyme
|
1.4E-17 |
0.535 |
0.769 |
SNX14 |
Q9Y5W7
|
sorting nexin 14
|
Enzyme modulator
|
6.1E-17 |
0.659 |
0.423 |
EGF |
P01133
|
epidermal growth factor
|
|
8.5E-17 |
0.357 |
0.923 |
NBN |
O60934
|
nibrin
|
Nucleic acid binding
|
2.2E-16 |
0.467 |
0.808 |
GJB2 |
P29033
|
gap junction protein beta 2
|
Cell-cell junction
|
6.6E-16 |
0.441 |
0.846 |
WWOX |
Q9NZC7
|
WW domain containing oxidoreductase
|
Enzyme
|
1.2E-15 |
0.453 |
0.808 |
CAMKMT |
Q7Z624
|
calmodulin-lysine N-methyltransferase
|
|
1.4E-15 |
0.510 |
0.808 |
CWF19L1 |
Q69YN2
|
CWF19 like cell cycle control factor 1
|
|
1.4E-15 |
0.691 |
0.346 |
GALC |
P54803
|
galactosylceramidase
|
|
5.2E-15 |
0.604 |
0.615 |
PNKP |
Q96T60
|
polynucleotide kinase 3'-phosphatase
|
|
3.7E-14 |
0.553 |
0.692 |