|
| 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: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
|
| Entrez Id: |
9968 |
| Gene Symbol: |
MED12 |
MED12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57520 |
| Gene Symbol: |
HECW2 |
HECW2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23594 |
| Gene Symbol: |
ORC6 |
ORC6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5500 |
| Gene Symbol: |
PPP1CB |
PPP1CB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2517 |
| Gene Symbol: |
FUCA1 |
FUCA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5922 |
| Gene Symbol: |
RASA2 |
RASA2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
25942 |
| Gene Symbol: |
SIN3A |
SIN3A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6595 |
| Gene Symbol: |
SMARCA2 |
SMARCA2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6197 |
| Gene Symbol: |
RPS6KA3 |
RPS6KA3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2006 |
| Gene Symbol: |
ELN |
ELN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7552 |
| Gene Symbol: |
ZNF711 |
ZNF711
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6659 |
| Gene Symbol: |
SOX4 |
SOX4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51085 |
| Gene Symbol: |
MLXIPL |
MLXIPL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
139411 |
| Gene Symbol: |
PTCHD1 |
PTCHD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6598 |
| Gene Symbol: |
SMARCB1 |
SMARCB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4758 |
| Gene Symbol: |
NEU1 |
NEU1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7592 |
| Gene Symbol: |
ZNF41 |
ZNF41
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3756 |
| Gene Symbol: |
KCNH1 |
KCNH1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1591 |
| Gene Symbol: |
CYP24A1 |
CYP24A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6223 |
| Gene Symbol: |
RPS19 |
RPS19
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|