Entrez Id: |
2186 |
Gene Symbol: |
BPTF |
BPTF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
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: |
253738 |
Gene Symbol: |
EBF3 |
EBF3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
Entrez Id: |
2782 |
Gene Symbol: |
GNB1 |
GNB1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
NPHP3-ACAD11
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
1778 |
Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
104472715 |
Gene Symbol: |
SNHG14 |
SNHG14
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
7337 |
Gene Symbol: |
UBE3A |
UBE3A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
93986 |
Gene Symbol: |
FOXP2 |
FOXP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
9772 |
Gene Symbol: |
TMEM94 |
TMEM94
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
26053 |
Gene Symbol: |
AUTS2 |
AUTS2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
201163 |
Gene Symbol: |
FLCN |
FLCN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
80816 |
Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
NPHP3-ACAD11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
10381 |
Gene Symbol: |
TUBB3 |
TUBB3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
6389 |
Gene Symbol: |
SDHA |
SDHA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
2775 |
Gene Symbol: |
GNAO1 |
GNAO1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79876 |
Gene Symbol: |
UBA5 |
UBA5
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
10020 |
Gene Symbol: |
GNE |
GNE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
644096 |
Gene Symbol: |
SDHAF1 |
SDHAF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
2902 |
Gene Symbol: |
GRIN1 |
GRIN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
64324 |
Gene Symbol: |
NSD1 |
NSD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
1859 |
Gene Symbol: |
DYRK1A |
DYRK1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
22827 |
Gene Symbol: |
PUF60 |
PUF60
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
6392 |
Gene Symbol: |
SDHD |
SDHD
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|