| FRAXE |
|
fragile site, folic acid type, rare, fra(X)(q28) E
|
|
|
0.636 |
0.462 |
| HTC2 |
|
hypertrichosis 2 (generalized, congenital)
|
|
|
0.392 |
0.808 |
| SRY |
Q05066
|
sex determining region Y
|
Transcription factor
|
|
0.456 |
0.808 |
| PPP1R2C |
O14990
|
PPP1R2C family member C
|
Enzyme modulator
|
|
0.478 |
0.846 |
| RSS |
|
Russell Silver syndrome
|
|
|
0.578 |
0.692 |
| CBLL2 |
Q8N7E2
|
Cbl proto-oncogene like 2
|
Enzyme
|
|
0.476 |
0.808 |
| 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 |
| USH2A |
O75445
|
usherin
|
Enzyme modulator
|
1.6E-94 |
0.579 |
0.692 |
| ABCA7 |
Q8IZY2
|
ATP binding cassette subfamily A member 7
|
Transporter
|
2.1E-55 |
0.644 |
0.577 |
| SYNE1 |
Q8NF91
|
spectrin repeat containing nuclear envelope protein 1
|
|
3.2E-52 |
0.511 |
0.846 |
| VPS13B |
Q7Z7G8
|
vacuolar protein sorting 13 homolog B
|
|
2.5E-45 |
0.579 |
0.769 |
| DNMT3A |
Q9Y6K1
|
DNA methyltransferase 3 alpha
|
|
7.4E-39 |
0.445 |
0.846 |
| MPDZ |
O75970
|
multiple PDZ domain crumbs cell polarity complex component
|
|
5.8E-38 |
0.638 |
0.500 |
| SLC12A3 |
P55017
|
solute carrier family 12 member 3
|
Transporter
|
3.0E-32 |
0.493 |
0.808 |
| CNTN6 |
Q9UQ52
|
contactin 6
|
Receptor
|
9.0E-31 |
0.678 |
0.462 |
| MCPH1 |
Q8NEM0
|
microcephalin 1
|
Nucleic acid binding
|
7.8E-30 |
0.540 |
0.846 |
| BRCA1 |
P38398
|
BRCA1 DNA repair associated
|
Enzyme
|
9.2E-29 |
0.367 |
0.923 |
| AHI1 |
Q8N157
|
Abelson helper integration site 1
|
|
1.1E-25 |
0.513 |
0.846 |
| PCDH15 |
Q96QU1
|
protocadherin related 15
|
|
8.0E-25 |
0.601 |
0.577 |
| WDR62 |
O43379
|
WD repeat domain 62
|
|
2.4E-23 |
0.597 |
0.615 |
| PAH |
P00439
|
phenylalanine hydroxylase
|
|
6.4E-23 |
0.516 |
0.769 |
| DPYD |
Q12882
|
dihydropyrimidine dehydrogenase
|
Enzyme
|
3.4E-22 |
0.493 |
0.846 |