| 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 |
| ND1 |
P03886
|
NADH dehydrogenase, subunit 1 (complex I)
|
Enzyme
|
|
0.522 |
0.769 |
| ND4 |
P03905
|
NADH dehydrogenase, subunit 4 (complex I)
|
Enzyme
|
|
0.546 |
0.769 |
| TRNS1 |
|
tRNA
|
|
|
0.555 |
0.808 |
| SRY |
Q05066
|
sex determining region Y
|
Transcription factor
|
|
0.456 |
0.808 |
| H4C14 |
P62805
|
H4 clustered histone 14
|
|
|
0.541 |
0.692 |
| RSS |
|
Russell Silver syndrome
|
|
|
0.578 |
0.692 |
| CBLL2 |
Q8N7E2
|
Cbl proto-oncogene like 2
|
Enzyme
|
|
0.476 |
0.808 |
| HCA1 |
|
Hypercalciuria, absorptive, 1
|
|
|
0.633 |
0.654 |
| MIR137 |
|
microRNA 137
|
|
|
0.513 |
0.846 |
| H4C15 |
P62805
|
H4 clustered histone 15
|
|
|
0.541 |
0.692 |
| PTLS |
|
Potocki-Lupski syndrome
|
|
|
0.780 |
0.308 |
| DEL11P13 |
|
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
|
|
|
0.716 |
0.538 |
| FMR1-IT1 |
|
FMR1 intronic transcript 1
|
|
|
0.716 |
0.385 |
| CEP290 |
O15078
|
centrosomal protein 290
|
|
1.1E-60 |
0.517 |
0.769 |
| ALMS1 |
Q8TCU4
|
ALMS1 centrosome and basal body associated protein
|
|
4.5E-60 |
0.559 |
0.808 |
| TG |
P01266
|
thyroglobulin
|
Enzyme modulator
|
2.9E-59 |
0.480 |
0.808 |
| 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 |
| ABCG2 |
Q9UNQ0
|
ATP binding cassette subfamily G member 2 (Junior blood group)
|
Transporter
|
2.1E-32 |
0.419 |
0.885 |
| SLC12A3 |
P55017
|
solute carrier family 12 member 3
|
Transporter
|
3.0E-32 |
0.493 |
0.808 |
| LAMA1 |
P25391
|
laminin subunit alpha 1
|
|
3.2E-32 |
0.582 |
0.808 |
| CNTN6 |
Q9UQ52
|
contactin 6
|
Receptor
|
9.0E-31 |
0.678 |
0.462 |