EuRBPDB2 File List
Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000068654 | POLR1A | OTG | EVA | N.A. | GEP | G2P | N.A. | N.A. | N.A. | Orphanet |
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 |
---|---|---|---|---|---|
Systolic blood pressure | Kichaev G et al, 2018 | 2_86211023_A_G (rs2241432) | 4.000e-13 | 0.0576 | 422000 |
Diastolic blood pressure | Barton AR et al, 2021 | 2_86211023_A_G (rs2241432) | 3.700e-11 | 0.425 | 422713 |
1-methylnicotinamide levels | Panyard DJ et al, 2021 | 2_86167760_G_A (rs186893051) | 6.231e-11 | 0.447 | 291 |
N1-methyl-2-pyridone-5-carboxamide levels | Panyard DJ et al, 2021 | 2_86167760_G_A (rs186893051) | 7.362e-11 | 0.119 | 291 |
Red blood cell count | Chen MH et al, 2020 | 2_85956904_A_G (rs1438153) | 5.000e-10 | 0.104 | 727624 |
Mean platelet volume | Chen MH et al, 2020 | 2_86239426_T_C (rs13017143) | 9.070e-10 | 0.0665 | 460935 |
Lung function (FEV1/FVC) | Kichaev G et al, 2018 | 2_86114205_G_A (rs10184246) | 1.000e-09 | 0.0662 | 370000 |
Red blood cell count | Barton AR et al, 2021 | 2_85912681_C_T (rs2945825) | 1.500e-09 | 0.103 | 445305 |
Platelet count | Vuckovic D et al, 2020 | 2_86239426_T_C (rs13017143) | 3.400e-09 | 0.111 | 408112 |
Systolic blood pressure | Hoffmann TJ et al, 2016 | 2_86141681_G_A (rs3731818) | 4.000e-09 | 0.0542 | 321262 |
Showing 1 to 10 of 15 entries
Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
---|---|---|---|---|---|---|
Acrofacial dysostosis Cincinnati type | 2_86031407_G_A | NA | NC_000002.12:g.86031407G>A | RCV003135094 | uncertain significance | criteria provided, single submitter |
Acrofacial dysostosis Cincinnati type | 2_86070038_G_A | NA | NC_000002.12:g.86070038G>A | RCV003135093 | uncertain significance | criteria provided, single submitter |
Acrofacial dysostosis Cincinnati type | 2_86048991_G_A | rs1377622831 | NC_000002.12:g.86048991G>A | RCV000768447 | pathogenic | no assertion criteria provided |
Acrofacial dysostosis Cincinnati type | 2_86031661_T_G | NA | NC_000002.12:g.86031661T>G | RCV001789517 | benign | criteria provided, single submitter |
Acrofacial dysostosis Cincinnati type | 2_86065365_A_G | rs1673068500 | NC_000002.12:g.86065365A>G | RCV001262850 | uncertain significance | criteria provided, single submitter |
Acrofacial dysostosis Cincinnati type | 2_86038743_TCTC_T | rs1064794956 | NC_000002.12:g.86038746_86038748del | RCV001375990 | uncertain significance | criteria provided, single submitter |
Acrofacial dysostosis Cincinnati type | 2_86075098_G_A | NA | NC_000002.12:g.86075098G>A | RCV001809201 | uncertain significance | criteria provided, single submitter |
Acrofacial dysostosis Cincinnati type | 2_86078265_G_C | NA | NC_000002.12:g.86078265G>C | RCV003130803 | uncertain significance | criteria provided, single submitter |
Acrofacial dysostosis Cincinnati type | 2_86089889_C_G | rs146078741 | NC_000002.12:g.86089889C>G | RCV000986786 | likely benign | criteria provided, single submitter |
Acrofacial dysostosis Cincinnati type | 2_86099997_G_A | rs1558788291 | NC_000002.12:g.86099997G>A | RCV000723299 | uncertain significance | no assertion criteria provided |
Showing 1 to 10 of 55 entries
Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
---|---|---|---|---|
acrofacial dysostosis | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Deafness and congenital structural abnormalities | green | 2 |
Acrofacial dysostosis Cincinnati type | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Fetal anomalies | green | 0 |
Acrofacial dysostosis, Cincinnati type | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Skeletal dysplasia | green | 1 |
Acrofacial dysostosis, Cincinnati type | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Fetal anomalies | green | 0 |
Acrofacial dysostosis, Cincinnati type | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Limb disorders | amber | 1 |
Acrofacial dysostosis, Cincinnati type | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Severe Paediatric Disorders | green | 1 |
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | DDG2P | amber | 1 |
Acrofacial dysostosis, Cincinnati type | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Deafness and congenital structural abnormalities | green | 2 |
micrognathia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Deafness and congenital structural abnormalities | green | 2 |
Showing 1 to 9 of 9 entries
g2p/phenotype | Functional consequence | Allelic requirement | Panel | Confidence | Literature |
---|---|---|---|---|---|
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE | SO_0002317 | monoallelic_autosomal | DD | strong | 25913037 |
Showing 1 to 1 of 1 entries
Disease/phenotype | Reported protein | Allele origin | Confidence | Literature |
---|---|---|---|---|
Burn-McKeown syndrome | RNA polymerase I subunit A | germline | Assessed | Assessed |
Burn-McKeown syndrome | RNA polymerase I subunit A | germline | Assessed | Assessed |
Showing 1 to 2 of 2 entries