|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80816 |
| Gene Symbol: |
ASXL3 |
ASXL3
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5621 |
| Gene Symbol: |
PRNP |
PRNP
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
816 |
| Gene Symbol: |
CAMK2B |
CAMK2B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| 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: |
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: |
2892 |
| Gene Symbol: |
GRIA3 |
GRIA3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
|
29016847 |
2017 |
|
| Entrez Id: |
1917 |
| Gene Symbol: |
EEF1A2 |
EEF1A2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
| Entrez Id: |
2290 |
| Gene Symbol: |
FOXG1 |
FOXG1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
126 |
| Gene Symbol: |
ADH1C |
ADH1C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9091 |
| Gene Symbol: |
PIGQ |
PIGQ
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
124512 |
| Gene Symbol: |
METTL23 |
METTL23
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9091 |
| Gene Symbol: |
PIGQ |
PIGQ
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9101 |
| Gene Symbol: |
USP8 |
USP8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
IRAK1BP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2009 |
| Gene Symbol: |
EML1 |
EML1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6197 |
| Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57680 |
| Gene Symbol: |
CHD8 |
CHD8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
150094 |
| Gene Symbol: |
SIK1 |
SIK1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84896 |
| Gene Symbol: |
ATAD1 |
ATAD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
443 |
| Gene Symbol: |
ASPA |
ASPA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
166378 |
| Gene Symbol: |
SPATA5 |
SPATA5
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|