| FRAXA |
|
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
|
|
|
0.641 |
0.462 |
| FRAXE |
|
fragile site, folic acid type, rare, fra(X)(q28) E
|
|
|
0.636 |
0.462 |
| HTC2 |
|
hypertrichosis 2 (generalized, congenital)
|
|
|
0.392 |
0.808 |
| NANS |
Q9NR45
|
N-acetylneuraminate synthase
|
Enzyme
|
|
0.545 |
0.692 |
| VPS13B |
Q7Z7G8
|
vacuolar protein sorting 13 homolog B
|
|
2.5E-45 |
0.579 |
0.769 |
| AHI1 |
Q8N157
|
Abelson helper integration site 1
|
|
1.1E-25 |
0.513 |
0.846 |
| DPYD |
Q12882
|
dihydropyrimidine dehydrogenase
|
Enzyme
|
3.4E-22 |
0.493 |
0.846 |
| ZRANB3 |
Q5FWF4
|
zinc finger RANBP2-type containing 3
|
|
4.2E-21 |
0.780 |
0.577 |
| PMM2 |
O15305
|
phosphomannomutase 2
|
Enzyme
|
1.4E-17 |
0.535 |
0.769 |
| KDM5B |
Q9UGL1
|
lysine demethylase 5B
|
Epigenetic regulator
|
7.9E-15 |
0.532 |
0.731 |
| ASXL1 |
Q8IXJ9
|
ASXL transcriptional regulator 1
|
|
1.3E-14 |
0.482 |
0.808 |
| PNKP |
Q96T60
|
polynucleotide kinase 3'-phosphatase
|
|
3.7E-14 |
0.553 |
0.692 |
| RPE65 |
Q16518
|
retinoid isomerohydrolase RPE65
|
Enzyme
|
6.5E-14 |
0.417 |
0.808 |
| SMG9 |
Q9H0W8
|
SMG9 nonsense mediated mRNA decay factor
|
|
3.5E-13 |
0.729 |
0.346 |
| DHCR7 |
Q9UBM7
|
7-dehydrocholesterol reductase
|
Enzyme
|
3.9E-13 |
0.500 |
0.846 |
| ADSL |
P30566
|
adenylosuccinate lyase
|
Enzyme
|
8.9E-12 |
0.631 |
0.654 |
| AS3MT |
Q9HBK9
|
arsenite methyltransferase
|
Enzyme
|
8.0E-11 |
0.638 |
0.538 |
| EIF2B2 |
P49770
|
eukaryotic translation initiation factor 2B subunit beta
|
|
2.1E-10 |
0.647 |
0.538 |
| MTHFR |
P42898
|
methylenetetrahydrofolate reductase
|
|
3.2E-10 |
0.337 |
0.885 |
| EXT2 |
Q93063
|
exostosin glycosyltransferase 2
|
Enzyme
|
1.3E-09 |
0.576 |
0.654 |
| UROD |
P06132
|
uroporphyrinogen decarboxylase
|
|
1.3E-08 |
0.521 |
0.769 |
| KCNQ1 |
P51787
|
potassium voltage-gated channel subfamily Q member 1
|
Ion channel
|
4.5E-08 |
0.485 |
0.769 |
| PIK3CG |
P48736
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
|
Kinase
|
1.4E-06 |
0.320 |
0.885 |
| SMARCAL1 |
Q9NZC9
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
|
|
2.3E-06 |
0.599 |
0.654 |
| CNTN4 |
Q8IWV2
|
contactin 4
|
Receptor
|
3.3E-06 |
0.653 |
0.577 |