|
| Entrez Id: |
3190 |
| Gene Symbol: |
HNRNPK |
HNRNPK
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23332 |
| Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
56052 |
| Gene Symbol: |
ALG1 |
ALG1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9343 |
| Gene Symbol: |
EFTUD2 |
EFTUD2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
100151683 |
| Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
91949 |
| Gene Symbol: |
COG7 |
COG7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2904 |
| Gene Symbol: |
GRIN2B |
GRIN2B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2778 |
| Gene Symbol: |
GNAS |
GNAS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6659 |
| Gene Symbol: |
SOX4 |
SOX4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
|
| Entrez Id: |
2581 |
| Gene Symbol: |
GALC |
GALC
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1615 |
| Gene Symbol: |
DARS1 |
DARS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| 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: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| 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: |
1859 |
| Gene Symbol: |
DYRK1A |
DYRK1A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
| Entrez Id: |
54551 |
| Gene Symbol: |
MAGEL2 |
MAGEL2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
54870 |
| Gene Symbol: |
QRICH1 |
QRICH1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
KCNMA1-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1188 |
| Gene Symbol: |
CLCNKB |
CLCNKB
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
54496 |
| Gene Symbol: |
PRMT7 |
PRMT7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
215 |
| Gene Symbol: |
ABCD1 |
ABCD1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
51633 |
| Gene Symbol: |
OTUD6B |
OTUD6B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|