|
| 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: |
8942 |
| Gene Symbol: |
KYNU |
KYNU
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
|
| Entrez Id: |
23233 |
| Gene Symbol: |
EXOC6B |
EXOC6B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
|
25256811 |
2014 |
|
| Entrez Id: |
23233 |
| Gene Symbol: |
EXOC6B |
EXOC6B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
|
23422942 |
2013 |
|
| Entrez Id: |
2010 |
| Gene Symbol: |
EMD |
EMD
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5718 |
| Gene Symbol: |
PSMD12 |
PSMD12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
285175 |
| Gene Symbol: |
UNC80 |
UNC80
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9895 |
| Gene Symbol: |
TECPR2 |
TECPR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23363 |
| Gene Symbol: |
OBSL1 |
OBSL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5727 |
| Gene Symbol: |
PTCH1 |
PTCH1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
259232 |
| Gene Symbol: |
NALCN |
NALCN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9321 |
| Gene Symbol: |
TRIP11 |
TRIP11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79053 |
| Gene Symbol: |
ALG8 |
ALG8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8481 |
| Gene Symbol: |
OFD1 |
OFD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
374654 |
| Gene Symbol: |
KIF7 |
KIF7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23389 |
| Gene Symbol: |
MED13L |
MED13L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1291 |
| Gene Symbol: |
COL6A1 |
COL6A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2990 |
| Gene Symbol: |
GUSB |
GUSB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
71 |
| Gene Symbol: |
ACTG1 |
ACTG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
221037 |
| Gene Symbol: |
JMJD1C |
JMJD1C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
56975 |
| Gene Symbol: |
FAM20C |
FAM20C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
TMEM256-PLSCR3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|