Approved Symbol |
Approved Name |
Location |
No. of Studies (Positive/Negative/Trend)  |
Evidence[PMID] |
MYO5B |
myosin VB |
18q |
2(1/0/1)
|
IEA
|
WFS1 |
Wolfram syndrome 1 (wolframin) |
4p16.1 |
7(1/6/0)
|
IEA
|
CAMK2A |
calcium/calmodulin-dependent protein kinase II alpha |
5q32 |
2(1/1/0)
|
IPI[20668654]
|
GRIN1 |
glutamate receptor, ionotropic, N-methyl D-aspartate 1 |
9q34.3 |
3(2/1/0)
|
ISS
|
PCNT |
pericentrin |
21q22.3 |
1(0/1/0)
|
IEA
|
PPP3CC |
protein phosphatase 3, catalytic subunit, gamma isozyme |
8p21.3 |
1(0/1/0)
|
IEA
|
VAMP2 |
vesicle-associated membrane protein 2 (synaptobrevin 2) |
17p13.1 |
1(1/0/0)
|
ISS
|
CAMKK2 |
calcium/calmodulin-dependent protein kinase kinase 2, beta |
12q24.2 |
2(1/1/0)
|
TAS[11395482]
|
RYR2 |
ryanodine receptor 2 (cardiac) |
1q43 |
1(1/0/0)
|
IMP[19220289]; IPI[23040497]; ISS
|
PPP3CB |
protein phosphatase 3, catalytic subunit, beta isozyme |
10q22.2 |
2(1/1/0)
|
IDA[11005320]; NAS[8524402]
|
GRM4 |
glutamate receptor, metabotropic 4 |
6p21.3 |
2(2/0/0)
|
IEA
|
RASGRF2 |
Ras protein-specific guanine nucleotide-releasing factor 2 |
5q13 |
1(0/0/1)
|
IEA
|
NOS3 |
nitric oxide synthase 3 (endothelial cell) |
7q36 |
2(1/1/0)
|
IEA
|
KCNN3 |
potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3 |
1q21.3 |
7(1/6/0)
|
IBA
|
NOS1 |
nitric oxide synthase 1 (neuronal) |
12q24.22 |
8(2/5/1)
|
IEA
|
NRGN |
neurogranin (protein kinase C substrate, RC3) |
11q24 |
2(1/1/0)
|
IEA
|
MYH14 |
myosin, heavy chain 14, non-muscle |
19q13.33 |
1(0/1/0)
|
IEA
|
CACNA1C |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
12p13.3 |
20(17/3/0)
|
IPI[15140941]
|
PLA2G6 |
phospholipase A2, group VI (cytosolic, calcium-independent) |
22q13.1 |
2(1/1/0)
|
IEA
|
RGS4 |
regulator of G-protein signaling 4 |
1q23.3 |
6(3/2/1)
|
TAS[10747990]
|