|
| Entrez Id: |
5885 |
| Gene Symbol: |
RAD21 |
RAD21
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
| Entrez Id: |
84294 |
| Gene Symbol: |
UTP23 |
UTP23
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
| 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: |
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: |
79823 |
| Gene Symbol: |
CAMKMT |
CAMKMT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
ATP6V1B2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
22827 |
| Gene Symbol: |
PUF60 |
PUF60
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7403 |
| Gene Symbol: |
KDM6A |
KDM6A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9853 |
| Gene Symbol: |
RUSC2 |
RUSC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55691 |
| Gene Symbol: |
FRMD4A |
FRMD4A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55869 |
| Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6878 |
| Gene Symbol: |
TAF6 |
TAF6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6519 |
| Gene Symbol: |
SLC3A1 |
SLC3A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9581 |
| Gene Symbol: |
PREPL |
PREPL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4853 |
| Gene Symbol: |
NOTCH2 |
NOTCH2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2200 |
| Gene Symbol: |
FBN1 |
FBN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3756 |
| Gene Symbol: |
KCNH1 |
KCNH1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
112939 |
| Gene Symbol: |
NACC1 |
NACC1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
50801 |
| Gene Symbol: |
KCNK4 |
KCNK4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
672 |
| Gene Symbol: |
BRCA1 |
BRCA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2535 |
| Gene Symbol: |
FZD2 |
FZD2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55603 |
| Gene Symbol: |
TENT5A |
TENT5A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4054 |
| Gene Symbol: |
LTBP3 |
LTBP3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|