|
| 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: |
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: |
51053 |
| Gene Symbol: |
GMNN |
GMNN
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
| Entrez Id: |
4613 |
| Gene Symbol: |
MYCN |
MYCN
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
|
15821734 |
2005 |
|
| Entrez Id: |
675 |
| Gene Symbol: |
BRCA2 |
BRCA2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3977 |
| Gene Symbol: |
LIFR |
LIFR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1108 |
| Gene Symbol: |
CHD4 |
CHD4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6913 |
| Gene Symbol: |
TBX15 |
TBX15
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1280 |
| Gene Symbol: |
COL2A1 |
COL2A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2697 |
| Gene Symbol: |
GJA1 |
GJA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79633 |
| Gene Symbol: |
FAT4 |
FAT4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84314 |
| Gene Symbol: |
TMEM107 |
TMEM107
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2175 |
| Gene Symbol: |
FANCA |
FANCA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7841 |
| Gene Symbol: |
MOGS |
MOGS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
83990 |
| Gene Symbol: |
BRIP1 |
BRIP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9935 |
| Gene Symbol: |
MAFB |
MAFB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8239 |
| Gene Symbol: |
USP9X |
USP9X
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51574 |
| Gene Symbol: |
LARP7 |
LARP7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7707 |
| Gene Symbol: |
ZNF148 |
ZNF148
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6595 |
| Gene Symbol: |
SMARCA2 |
SMARCA2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84464 |
| Gene Symbol: |
SLX4 |
SLX4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23389 |
| Gene Symbol: |
MED13L |
MED13L
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8621 |
| Gene Symbol: |
CDK13 |
CDK13
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|