|
| 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: |
7291 |
| Gene Symbol: |
TWIST1 |
TWIST1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7518 |
| Gene Symbol: |
XRCC4 |
XRCC4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
60 |
| Gene Symbol: |
ACTB |
ACTB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4983 |
| Gene Symbol: |
OPHN1 |
OPHN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9968 |
| Gene Symbol: |
MED12 |
MED12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
100151683 |
| Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79228 |
| Gene Symbol: |
THOC6 |
THOC6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9241 |
| Gene Symbol: |
NOG |
NOG
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10060 |
| Gene Symbol: |
ABCC9 |
ABCC9
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29072 |
| Gene Symbol: |
SETD2 |
SETD2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
94005 |
| Gene Symbol: |
PIGS |
PIGS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23522 |
| Gene Symbol: |
KAT6B |
KAT6B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6664 |
| Gene Symbol: |
SOX11 |
SOX11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23431 |
| Gene Symbol: |
AP4E1 |
AP4E1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4683 |
| Gene Symbol: |
NBN |
NBN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10479 |
| Gene Symbol: |
SLC9A6 |
SLC9A6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8905 |
| Gene Symbol: |
AP1S2 |
AP1S2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
71 |
| Gene Symbol: |
ACTG1 |
ACTG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
25 |
| Gene Symbol: |
ABL1 |
ABL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|