MSD |
|
microcephaly with spastic diplegia (Paine syndrome)
|
|
|
0.674 |
0.654 |
SCN10A |
Q9Y5Y9
|
sodium voltage-gated channel alpha subunit 10
|
Ion channel
|
9.9E-38 |
0.566 |
0.692 |
ACE |
P12821
|
angiotensin I converting enzyme
|
Enzyme
|
1.0E-37 |
0.328 |
0.923 |
CYP2D6 |
P10635
|
cytochrome P450 family 2 subfamily D member 6
|
|
1.1E-25 |
0.437 |
0.885 |
TRDN |
Q13061
|
triadin
|
|
8.4E-22 |
0.691 |
0.462 |
SLCO1B1 |
Q9Y6L6
|
solute carrier organic anion transporter family member 1B1
|
Transporter
|
1.1E-21 |
0.538 |
0.731 |
RNPEP |
Q9H4A4
|
arginyl aminopeptidase
|
|
2.6E-17 |
0.705 |
0.385 |
AKAP9 |
Q99996
|
A-kinase anchoring protein 9
|
|
4.5E-17 |
0.638 |
0.385 |
SARDH |
Q9UL12
|
sarcosine dehydrogenase
|
Enzyme
|
5.3E-16 |
0.523 |
0.846 |
ATP12A |
P54707
|
ATPase H+/K+ transporting non-gastric alpha2 subunit
|
Transporter
|
7.1E-14 |
0.575 |
0.769 |
ATP4A |
P20648
|
ATPase H+/K+ transporting subunit alpha
|
Transporter
|
9.4E-12 |
0.575 |
0.769 |
CYP3A4 |
P08684
|
cytochrome P450 family 3 subfamily A member 4
|
Enzyme
|
5.8E-11 |
0.462 |
0.885 |
NR1I2 |
O75469
|
nuclear receptor subfamily 1 group I member 2
|
Nuclear receptor
|
7.3E-09 |
0.418 |
0.846 |
ALG10B |
Q5I7T1
|
ALG10 alpha-1,2-glucosyltransferase B
|
|
2.0E-08 |
0.839 |
0.115 |
KCNQ1 |
P51787
|
potassium voltage-gated channel subfamily Q member 1
|
Ion channel
|
4.5E-08 |
0.485 |
0.769 |
SRL |
Q86TD4
|
sarcalumenin
|
Enzyme modulator
|
8.0E-08 |
0.597 |
0.731 |
C18orf21 |
Q32NC0
|
chromosome 18 open reading frame 21
|
|
5.7E-07 |
1.000 |
0.077 |
SCN4B |
Q8IWT1
|
sodium voltage-gated channel beta subunit 4
|
Ion channel
|
6.5E-07 |
0.705 |
0.346 |
ADRB1 |
P08588
|
adrenoceptor beta 1
|
G-protein coupled receptor
|
2.9E-06 |
0.555 |
0.769 |
ORM1 |
P02763
|
orosomucoid 1
|
|
1.1E-05 |
0.608 |
0.731 |
ABCB1 |
P08183
|
ATP binding cassette subfamily B member 1
|
Transporter
|
1.3E-05 |
0.344 |
0.885 |
CYP19A1 |
P11511
|
cytochrome P450 family 19 subfamily A member 1
|
Enzyme
|
1.7E-05 |
0.410 |
0.885 |
KCNE2 |
Q9Y6J6
|
potassium voltage-gated channel subfamily E regulatory subunit 2
|
Ion channel
|
1.0E-04 |
0.628 |
0.423 |
IL1A |
P01583
|
interleukin 1 alpha
|
|
1.6E-04 |
0.333 |
0.962 |
KCNJ5 |
P48544
|
potassium inwardly rectifying channel subfamily J member 5
|
Ion channel
|
3.4E-04 |
0.560 |
0.577 |