|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
86 |
| Gene Symbol: |
ACTL6A |
ACTL6A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23394 |
| Gene Symbol: |
ADNP |
ADNP
|
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: |
56052 |
| Gene Symbol: |
ALG1 |
ALG1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79868 |
| Gene Symbol: |
ALG13 |
ALG13
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79053 |
| Gene Symbol: |
ALG8 |
ALG8
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
29123 |
| Gene Symbol: |
ANKRD11 |
ANKRD11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
171023 |
| Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
26053 |
| Gene Symbol: |
AUTS2 |
AUTS2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1103 |
| Gene Symbol: |
CHAT |
CHAT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23332 |
| Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23332 |
| Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1289 |
| Gene Symbol: |
COL5A1 |
COL5A1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
| Entrez Id: |
8701 |
| Gene Symbol: |
DNAH11 |
DNAH11
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8701 |
| Gene Symbol: |
DNAH11 |
DNAH11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
FAM120AOS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2290 |
| Gene Symbol: |
FOXG1 |
FOXG1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57459 |
| Gene Symbol: |
GATAD2B |
GATAD2B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2904 |
| Gene Symbol: |
GRIN2B |
GRIN2B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3020 |
| Gene Symbol: |
H3-3A |
H3-3A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55869 |
| Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|