EuRBPDB2 File List
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000068796 | KIF2A | OTG | EVA | N.A. | GEP | N.A. | N.A. | UV | N.A. | N.A. |
Showing 1 to 1 of 1 entries
- Open Targets Genetics
- Clinvar
- Gene Burden
- Genomics england panel
- Gene2Phenotype
- UniProt literature
- UniProt variants
- Clingen
- Orphanet
| Disease/phenotype | Publication | Variant ID | P-value | L2G score | Sample size |
|---|---|---|---|---|---|
| Mean platelet volume | Barton AR et al, 2021 | 5_62244430_G_A (rs4099245) | 4.000e-56 | 0.707 | 445364 |
| Mean platelet volume | Chen MH et al, 2020 | 5_62244430_G_A (rs4099245) | 2.150e-41 | 0.714 | 460935 |
| Mean platelet volume | Vuckovic D et al, 2020 | 5_62235390_AT_A (rs35179196) | 4.800e-36 | 0.688 | 408112 |
| Mean platelet volume | Barton AR et al, 2021 | 5_62288053_G_T (rs35842742) | 2.700e-31 | 0.853 | 445364 |
| Mean platelet (thrombocyte) volume | NA | 5_62235390_AT_A (rs35179196) | 8.380e-31 | 0.642 | 350470 |
| Platelet count | Barton AR et al, 2021 | 5_62244430_G_A (rs4099245) | 2.600e-26 | 0.0991 | 444866 |
| Platelet count | Chen MH et al, 2020 | 5_62239297_T_C (rs10062757) | 2.900e-26 | 0.717 | 542827 |
| Platelet count | Chen MH et al, 2020 | 5_62239297_T_C (rs10062757) | 2.000e-24 | 0.686 | 721201 |
| Mean platelet volume | Chen MH et al, 2020 | 5_62393889_T_C (rs2272291) | 9.260e-24 | 0.534 | 460935 |
| Diastolic blood pressure | Evangelou E et al, 2018 | 5_62258054_C_T (rs10062049) | 1.000e-21 | 0.718 | 757601 |
Showing 1 to 10 of 62 entries
| Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
|---|---|---|---|---|---|---|
| Complex cortical dysplasia with other brain malformations 3 | 5_62306473_A_G | NA | NC_000005.10:g.62306473A>G | RCV003148461 | uncertain significance | criteria provided, single submitter |
| Complex cortical dysplasia with other brain malformations 3 | 5_62352635_T_C | rs138408434 | NC_000005.10:g.62352635T>C | RCV000627065 | uncertain significance | no assertion criteria provided |
| Complex cortical dysplasia with other brain malformations 3 | 5_62377749_G_A | NA | NC_000005.10:g.62377749G>A | RCV003133888 | uncertain significance | criteria provided, single submitter |
| Complex cortical dysplasia with other brain malformations 3 | 5_62381148_G_A | rs61748225 | NC_000005.10:g.62381148G>A | RCV002491240 | likely benign | criteria provided, single submitter |
| Complex cortical dysplasia with other brain malformations 3 | 5_62348105_G_A | rs1747667870 | NC_000005.10:g.62348105G>A | RCV001333752 | likely pathogenic | criteria provided, single submitter |
| Complex cortical dysplasia with other brain malformations 3 | 5_62361328_C_T | rs1554042050 | NC_000005.10:g.62361328C>T | RCV000501043 | likely pathogenic;pathogenic | criteria provided, multiple submitters, no conflicts |
| Complex cortical dysplasia with other brain malformations 3 | 5_62361319_G_A | rs587777034 | NC_000005.10:g.62361319G>A | RCV000055624 | pathogenic | no assertion criteria provided |
| Complex cortical dysplasia with other brain malformations 3 | 5_62361550_A_T | NA | NC_000005.10:g.62361550A>T | RCV001730928 | benign | criteria provided, single submitter |
| Complex cortical dysplasia with other brain malformations 3 | 5_62350069_C_T | rs1580059038 | NC_000005.10:g.62350069C>T | RCV000985176 | pathogenic | no assertion criteria provided |
| Complex cortical dysplasia with other brain malformations 3 | 5_62361330_C_G | rs587777033 | NC_000005.10:g.62361330C>G | RCV000055623 | pathogenic | no assertion criteria provided |
Showing 1 to 10 of 22 entries
| Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
|---|---|---|---|---|
| Complex cortical dysplasia with other brain malformations 3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Fetal anomalies | green | 0 |
| Cortical dysplasia, complex, with other brain malformations 3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Fetal anomalies | green | 0 |
| Cortical dysplasia, complex, with other brain malformations 3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Severe Paediatric Disorders | green | 1 |
| Cortical dysplasia, complex, with other brain malformations 3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Malformations of cortical development | green | 0 |
| Cortical dysplasia, complex, with other brain malformations 3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Intellectual disability | green | 4 |
| Cortical dysplasia, complex, with other brain malformations 3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Genetic epilepsy syndromes | green | 3 |
Showing 1 to 6 of 6 entries
| Disease/phenotype | Reported protein | Variant | Confidence | Literature |
|---|---|---|---|---|
| Cortical dysplasia, complex, with other brain malformations 3 | O00139 | rs587777034 | high | 23603762 |
| Cortical dysplasia, complex, with other brain malformations 3 | O00139 | rs587777033 | high | 23603762 |
Showing 1 to 2 of 2 entries