|
| Entrez Id: |
23363 |
| Gene Symbol: |
OBSL1 |
OBSL1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
9820 |
| Gene Symbol: |
CUL7 |
CUL7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
89953 |
| Gene Symbol: |
KLC4 |
KLC4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
253738 |
| Gene Symbol: |
EBF3 |
EBF3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
|
| Entrez Id: |
4853 |
| Gene Symbol: |
NOTCH2 |
NOTCH2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
83987 |
| Gene Symbol: |
CCDC8 |
CCDC8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10084 |
| Gene Symbol: |
PQBP1 |
PQBP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
50651 |
| Gene Symbol: |
SLC45A1 |
SLC45A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29920 |
| Gene Symbol: |
PYCR2 |
PYCR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7518 |
| Gene Symbol: |
XRCC4 |
XRCC4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5831 |
| Gene Symbol: |
PYCR1 |
PYCR1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6888 |
| Gene Symbol: |
TALDO1 |
TALDO1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5922 |
| Gene Symbol: |
RASA2 |
RASA2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55215 |
| Gene Symbol: |
FANCI |
FANCI
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3759 |
| Gene Symbol: |
KCNJ2 |
KCNJ2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
SLC25A24
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1290 |
| Gene Symbol: |
COL5A2 |
COL5A2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5352 |
| Gene Symbol: |
PLOD2 |
PLOD2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23389 |
| Gene Symbol: |
MED13L |
MED13L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11128 |
| Gene Symbol: |
POLR3A |
POLR3A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4621 |
| Gene Symbol: |
MYH3 |
MYH3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57570 |
| Gene Symbol: |
TRMT5 |
TRMT5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
201163 |
| Gene Symbol: |
FLCN |
FLCN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23592 |
| Gene Symbol: |
LEMD3 |
LEMD3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
161742 |
| Gene Symbol: |
SPRED1 |
SPRED1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|