EuRBPDB2 File List
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000125107 | CNOT1 | OTG | EVA | N.A. | GEP | G2P | UL | 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 |
|---|---|---|---|---|---|
| QT interval | Bihlmeyer NA et al, 2018 | 16_58588274_G_A (rs7188697) | 4.000e-63 | 0.431 | 95626 |
| QT interval | Arking DE et al, 2014 | 16_58540349_T_C (rs246196) | 2.000e-57 | 0.22 | 71061 |
| QT interval | Newton-Cheh C et al, 2009 | 16_58533334_A_G (rs37062) | 3.000e-25 | 0.226 | 13685 |
| QT interval | Pfeufer A et al, 2009 | 16_58588274_G_A (rs7188697) | 7.000e-25 | 0.39 | 15842 |
| QT dynamics during exercise | van Duijvenboden S et al, 2020 | 16_58531505_TGA_T (rs35216733) | 3.000e-23 | 0.229 | 52861 |
| QT interval | Wojcik GL et al, 2019 | 16_58532400_G_A (rs37060) | 4.000e-23 | 0.232 | 17348 |
| QT interval | van Setten J et al, 2019 | 16_58586981_C_T (rs950843) | 1.000e-20 | 0.249 | 26794 |
| Alanine aminotransferase levels | Barton AR et al, 2021 | 16_58516028_T_C (rs4784046) | 3.200e-18 | 0.22 | 437724 |
| Sex hormone-binding globulin levels | Barton AR et al, 2021 | 16_58580829_C_T (rs72790275) | 1.200e-17 | 0.199 | 397043 |
| QT dynamics during exercise [female] | van Duijvenboden S et al, 2020 | 16_58531505_TGA_T (rs35216733) | 2.000e-17 | 0.228 | 52861 |
Showing 1 to 10 of 50 entries
| Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
|---|---|---|---|---|---|---|
| Alopecia-intellectual disability syndrome 4 | 16_58547248_GTTGTCCT_G | rs2040286240 | NC_000016.10:g.58547251_58547257del | RCV001261956 | likely pathogenic | criteria provided, single submitter |
| Familial temporal lobe epilepsy 7 | 16_58543645_A_C | NA | NC_000016.10:g.58543645A>C | RCV003142407 | uncertain significance | criteria provided, single submitter |
| Holoprosencephaly 12 with or without pancreatic agenesis | 16_58553833_C_T | NA | NC_000016.10:g.58553833C>T | RCV001588049 | benign | criteria provided, single submitter |
| Holoprosencephaly 12 with or without pancreatic agenesis | 16_58545370_C_T | NA | NC_000016.10:g.58545370C>T | RCV001588044 | benign | criteria provided, single submitter |
| Holoprosencephaly 12 with or without pancreatic agenesis | 16_58576564_G_A | rs1567417422 | NC_000016.10:g.58576564G>A | RCV000787479 | pathogenic | criteria provided, single submitter |
| Holoprosencephaly 12 with or without pancreatic agenesis | 16_58583080_T_C | NA | NC_000016.10:g.58583080T>C | RCV001588051 | benign | criteria provided, single submitter |
| Holoprosencephaly 12 with or without pancreatic agenesis | 16_58542479_C_T | NA | NC_000016.10:g.58542479C>T | RCV001588042 | benign | criteria provided, single submitter |
| Holoprosencephaly 12 with or without pancreatic agenesis | 16_58549732_T_C | NA | NC_000016.10:g.58549732T>C | RCV001771783 | uncertain significance | no assertion criteria provided |
| Holoprosencephaly 12 with or without pancreatic agenesis | 16_58537963_T_C | rs2039972981 | NC_000016.10:g.58537963T>C | RCV001328741 | uncertain significance | criteria provided, single submitter |
| Holoprosencephaly 12 with or without pancreatic agenesis | 16_58629723_C_T | NA | NC_000016.10:g.58629723C>T | RCV002266571 | uncertain significance | criteria provided, single submitter |
Showing 1 to 10 of 78 entries
| Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
|---|---|---|---|---|
| global developmental delay | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Intellectual disability | green | 3 |
| HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | DDG2P | amber | 2 |
| Holoprosencephaly 12, with or without pancreatic agenesis | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Intellectual disability | green | 3 |
| Holoprosencephaly 12, with or without pancreatic agenesis | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Fetal anomalies | green | 2 |
| Holoprosencephaly 12, with or without pancreatic agenesis | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Holoprosencephaly | amber | 3 |
| Holoprosencephaly 12, with or without pancreatic agenesis | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Severe Paediatric Disorders | green | 1 |
Showing 1 to 6 of 6 entries
| g2p/phenotype | Functional consequence | Allelic requirement | Panel | Confidence | Literature |
|---|---|---|---|---|---|
| HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS | SO_0002318 | monoallelic_autosomal | DD | strong | 31006510;31006513 |
| neurodevelopmental disorder | SO_0002220 | monoallelic_autosomal | DD | strong | 32553196 |
Showing 1 to 2 of 2 entries
| Disease/phenotype | Reported protein | Confidence | Literature |
|---|---|---|---|
| Holoprosencephaly 12 with or without pancreatic agenesis | A5YKK6 | high | 31006513;31006510 |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Reported protein | Variant | Confidence | Literature |
|---|---|---|---|---|
| Holoprosencephaly 12 with or without pancreatic agenesis | A5YKK6 | rs1567417422 | high | 31006513 |
| Vissers-Bodmer syndrome | A5YKK6 | rs1038725612 | high | 32553196 |
| Vissers-Bodmer syndrome | A5YKK6 | rs2040438229 | high | 32553196 |
| Vissers-Bodmer syndrome | A5YKK6 | rs1567420855 | high | 32553196 |
| Vissers-Bodmer syndrome | A5YKK6 | rs1567396193 | high | 32553196 |
| Vissers-Bodmer syndrome | A5YKK6 | rs1184460054 | high | 32553196 |
Showing 1 to 6 of 6 entries