HTC2 |
|
hypertrichosis 2 (generalized, congenital)
|
|
|
0.392 |
0.808 |
LOH19CR1 |
|
loss of heterozygosity, 19, chromosomal region 1
|
|
|
0.569 |
0.808 |
NR2E3 |
Q9Y5X4
|
nuclear receptor subfamily 2 group E member 3
|
Nuclear receptor
|
|
0.603 |
0.500 |
CEP290 |
O15078
|
centrosomal protein 290
|
|
1.1E-60 |
0.517 |
0.769 |
CNTLN |
Q9NXG0
|
centlein
|
|
4.0E-49 |
0.805 |
0.269 |
MYO7A |
Q13402
|
myosin VIIA
|
Cellular structure
|
1.6E-38 |
0.585 |
0.423 |
PDE6B |
P35913
|
phosphodiesterase 6B
|
|
2.6E-27 |
0.626 |
0.346 |
AHI1 |
Q8N157
|
Abelson helper integration site 1
|
|
1.1E-25 |
0.513 |
0.846 |
IFT140 |
Q96RY7
|
intraflagellar transport 140
|
Cellular structure
|
9.9E-24 |
0.572 |
0.692 |
RPGRIP1 |
Q96KN7
|
RPGR interacting protein 1
|
Enzyme modulator
|
1.3E-23 |
0.553 |
0.654 |
PROM1 |
O43490
|
prominin 1
|
Transporter
|
1.9E-22 |
0.410 |
0.846 |
CNGA3 |
Q16281
|
cyclic nucleotide gated channel subunit alpha 3
|
Ion channel
|
8.0E-20 |
0.650 |
0.154 |
CRB1 |
P82279
|
crumbs cell polarity complex component 1
|
|
5.6E-16 |
0.570 |
0.654 |
CRB2 |
Q5IJ48
|
crumbs cell polarity complex component 2
|
|
1.5E-14 |
0.678 |
0.269 |
RPE65 |
Q16518
|
retinoid isomerohydrolase RPE65
|
Enzyme
|
6.5E-14 |
0.417 |
0.808 |
SPATA7 |
Q9P0W8
|
spermatogenesis associated 7
|
|
5.2E-13 |
0.656 |
0.385 |
IQCB1 |
Q15051
|
IQ motif containing B1
|
|
1.4E-12 |
0.641 |
0.654 |
BEST1 |
O76090
|
bestrophin 1
|
Ion channel
|
1.8E-12 |
0.465 |
0.885 |
MERTK |
Q12866
|
MER proto-oncogene, tyrosine kinase
|
Kinase
|
2.7E-11 |
0.531 |
0.692 |
CYP3A4 |
P08684
|
cytochrome P450 family 3 subfamily A member 4
|
Enzyme
|
5.8E-11 |
0.462 |
0.885 |
KRT20 |
P35900
|
keratin 20
|
|
9.1E-11 |
0.388 |
0.846 |
CABP4 |
P57796
|
calcium binding protein 4
|
|
1.7E-10 |
0.711 |
0.154 |
CYP4V2 |
Q6ZWL3
|
cytochrome P450 family 4 subfamily V member 2
|
Enzyme
|
2.2E-10 |
0.670 |
0.577 |
GUCY2D |
Q02846
|
guanylate cyclase 2D, retinal
|
Kinase
|
6.5E-10 |
0.570 |
0.769 |
RDH12 |
Q96NR8
|
retinol dehydrogenase 12
|
Enzyme
|
2.3E-09 |
0.650 |
0.308 |