|
| Entrez Id: |
55209 |
| Gene Symbol: |
SETD5 |
SETD5
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10943 |
| Gene Symbol: |
MSL3 |
MSL3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
54965 |
| Gene Symbol: |
PIGX |
PIGX
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
|
29127258 |
2018 |
|
| Entrez Id: |
113179 |
| Gene Symbol: |
ADAT3 |
ADAT3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4297 |
| Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6016 |
| Gene Symbol: |
RIT1 |
RIT1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
259266 |
| Gene Symbol: |
ASPM |
ASPM
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
ASPM is a major determinant of cerebral cortical size.
|
12355089 |
2002 |
|
| Entrez Id: |
9871 |
| Gene Symbol: |
SEC24D |
SEC24D
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
51633 |
| Gene Symbol: |
OTUD6B |
OTUD6B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3192 |
| Gene Symbol: |
HNRNPU |
HNRNPU
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6326 |
| Gene Symbol: |
SCN2A |
SCN2A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
93649 |
| Gene Symbol: |
MYOCD |
MYOCD
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
492 |
| Gene Symbol: |
ATP2B3 |
ATP2B3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
92154 |
| Gene Symbol: |
MTSS2 |
MTSS2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
113179 |
| Gene Symbol: |
ADAT3 |
ADAT3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23498 |
| Gene Symbol: |
HAAO |
HAAO
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
51633 |
| Gene Symbol: |
OTUD6B |
OTUD6B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
|
25735478 |
2015 |
|
| Entrez Id: |
5977 |
| Gene Symbol: |
DPF2 |
DPF2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
|
29429572 |
2018 |
|
| Entrez Id: |
816 |
| Gene Symbol: |
CAMK2B |
CAMK2B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
8831 |
| Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4781 |
| Gene Symbol: |
NFIB |
NFIB
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9711 |
| Gene Symbol: |
RUBCN |
RUBCN
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|