Entrez Id: |
57459 |
Gene Symbol: |
GATAD2B |
GATAD2B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23332 |
Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
NPHP3-ACAD11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79053 |
Gene Symbol: |
ALG8 |
ALG8
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6575 |
Gene Symbol: |
SLC20A2 |
SLC20A2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2290 |
Gene Symbol: |
FOXG1 |
FOXG1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79876 |
Gene Symbol: |
UBA5 |
UBA5
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
IRAK1BP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6334 |
Gene Symbol: |
SCN8A |
SCN8A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
100151683 |
Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6598 |
Gene Symbol: |
SMARCB1 |
SMARCB1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23394 |
Gene Symbol: |
ADNP |
ADNP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
171023 |
Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
10847 |
Gene Symbol: |
SRCAP |
SRCAP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
1103 |
Gene Symbol: |
CHAT |
CHAT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
112939 |
Gene Symbol: |
NACC1 |
NACC1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79868 |
Gene Symbol: |
ALG13 |
ALG13
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
4853 |
Gene Symbol: |
NOTCH2 |
NOTCH2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55023 |
Gene Symbol: |
PHIP |
PHIP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
10939 |
Gene Symbol: |
AFG3L2 |
AFG3L2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
Entrez Id: |
93627 |
Gene Symbol: |
TBCK |
TBCK
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55869 |
Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
84617 |
Gene Symbol: |
TUBB6 |
TUBB6
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
Entrez Id: |
5530 |
Gene Symbol: |
PPP3CA |
PPP3CA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8701 |
Gene Symbol: |
DNAH11 |
DNAH11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|