|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
| Entrez Id: |
80816 |
| Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
| Entrez Id: |
2475 |
| Gene Symbol: |
MTOR |
MTOR
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
|
27159400 |
2016 |
|
| Entrez Id: |
25880 |
| Gene Symbol: |
TMEM186 |
TMEM186
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
|
| Entrez Id: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
|
| Entrez Id: |
51091 |
| Gene Symbol: |
SEPSECS |
SEPSECS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1476 |
| Gene Symbol: |
CSTB |
CSTB
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5915 |
| Gene Symbol: |
RARB |
RARB
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
54551 |
| Gene Symbol: |
MAGEL2 |
MAGEL2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5190 |
| Gene Symbol: |
PEX6 |
PEX6
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23203 |
| Gene Symbol: |
PMPCA |
PMPCA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
29781 |
| Gene Symbol: |
NCAPH2 |
NCAPH2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3020 |
| Gene Symbol: |
H3-3A |
H3-3A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57148 |
| Gene Symbol: |
RALGAPB |
RALGAPB
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4604 |
| Gene Symbol: |
MYBPC1 |
MYBPC1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
51133 |
| Gene Symbol: |
KCTD3 |
KCTD3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2904 |
| Gene Symbol: |
GRIN2B |
GRIN2B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
56052 |
| Gene Symbol: |
ALG1 |
ALG1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23126 |
| Gene Symbol: |
POGZ |
POGZ
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55823 |
| Gene Symbol: |
VPS11 |
VPS11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
54872 |
| Gene Symbol: |
PIGG |
PIGG
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6812 |
| Gene Symbol: |
STXBP1 |
STXBP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
51633 |
| Gene Symbol: |
OTUD6B |
OTUD6B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5351 |
| Gene Symbol: |
PLOD1 |
PLOD1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|