|
| Entrez Id: |
2222 |
| Gene Symbol: |
FDFT1 |
FDFT1
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
|
29909962 |
2018 |
|
| Entrez Id: |
2892 |
| Gene Symbol: |
GRIA3 |
GRIA3
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
|
29016847 |
2017 |
|
| Entrez Id: |
816 |
| Gene Symbol: |
CAMK2B |
CAMK2B
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
9419 |
| Gene Symbol: |
CRIPT |
CRIPT
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
93210 |
| Gene Symbol: |
PGAP3 |
PGAP3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
5194 |
| Gene Symbol: |
PEX13 |
PEX13
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
93627 |
| Gene Symbol: |
TBCK |
TBCK
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9894 |
| Gene Symbol: |
TELO2 |
TELO2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
29968 |
| Gene Symbol: |
PSAT1 |
PSAT1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5824 |
| Gene Symbol: |
PEX19 |
PEX19
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
8398 |
| Gene Symbol: |
PLA2G6 |
PLA2G6
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
25973 |
| Gene Symbol: |
PARS2 |
PARS2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5190 |
| Gene Symbol: |
PEX6 |
PEX6
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4210 |
| Gene Symbol: |
MEFV |
MEFV
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
94005 |
| Gene Symbol: |
PIGS |
PIGS
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
NPHP3-ACAD11
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
9409 |
| Gene Symbol: |
PEX16 |
PEX16
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
54820 |
| Gene Symbol: |
NDE1 |
NDE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2903 |
| Gene Symbol: |
GRIN2A |
GRIN2A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5195 |
| Gene Symbol: |
PEX14 |
PEX14
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
26040 |
| Gene Symbol: |
SETBP1 |
SETBP1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5193 |
| Gene Symbol: |
PEX12 |
PEX12
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
285175 |
| Gene Symbol: |
UNC80 |
UNC80
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10667 |
| Gene Symbol: |
FARS2 |
FARS2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|