Entrez Id: |
2775 |
Gene Symbol: |
GNAO1 |
GNAO1
|
0.450 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
Entrez Id: |
1759 |
Gene Symbol: |
DNM1 |
DNM1
|
0.430 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
0.430 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2554 |
Gene Symbol: |
GABRA1 |
GABRA1
|
0.410 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
3192 |
Gene Symbol: |
HNRNPU |
HNRNPU
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
|
28815871 |
2017 |
Entrez Id: |
8831 |
Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6334 |
Gene Symbol: |
SCN8A |
SCN8A
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
3785 |
Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6323 |
Gene Symbol: |
SCN1A |
SCN1A
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
3785 |
Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6334 |
Gene Symbol: |
SCN8A |
SCN8A
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6323 |
Gene Symbol: |
SCN1A |
SCN1A
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
0.180 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
51741 |
Gene Symbol: |
WWOX |
WWOX
|
0.170 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
3745 |
Gene Symbol: |
KCNB1 |
KCNB1
|
0.150 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
3745 |
Gene Symbol: |
KCNB1 |
KCNB1
|
0.150 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2562 |
Gene Symbol: |
GABRB3 |
GABRB3
|
0.150 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
0.140 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6709 |
Gene Symbol: |
SPTAN1 |
SPTAN1
|
0.130 |
CausalMutation
|
disease |
CLINVAR |
|
|
|