EuRBPDB2 File List
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000095139 | ARCN1 | OTG | EVA | N.A. | GEP | N.A. | UL | N.A. | 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 |
|---|---|---|---|---|---|
| White blood cell count | Chen MH et al, 2020 | 11_118591652_A_G (rs11216919) | 2.680e-18 | 0.331 | 562243 |
| White blood cell count | Vuckovic D et al, 2020 | 11_118591652_A_G (rs11216919) | 6.900e-17 | 0.194 | 408112 |
| Neutrophil count | Chen MH et al, 2020 | 11_118591652_A_G (rs11216919) | 1.260e-16 | 0.148 | 519288 |
| Apolipoprotein A1 levels | Barton AR et al, 2021 | 11_118535274_A_G (rs3741325) | 8.000e-16 | 0.0726 | 398508 |
| Monocyte percentage of white cells | Vuckovic D et al, 2020 | 11_118596875_G_A (rs150403348) | 2.000e-14 | 0.279 | 408112 |
| Low density lipoprotein cholesterol levels | Klimentidis YC et al, 2020 | 11_118596875_G_A (rs150403348) | 1.600e-13 | 0.241 | 431167 |
| Monocyte count | Chen MH et al, 2020 | 11_118863807_A_T (rs71482156) | 4.710e-12 | 0.243 | 521594 |
| Total cholesterol levels [Trans-ethnic initial] | Spracklen CN et al, 2017 | 11_118578655_A_G (rs17122278) | 2.000e-10 | 0.432 | 219941 |
| Mean corpuscular hemoglobin concentration | Chen MH et al, 2020 | 11_119095811_C_T (rs2509049) | 2.850e-10 | 0.0595 | 491553 |
| HDL cholesterol levels | Barton AR et al, 2021 | 11_118535274_A_G (rs3741325) | 4.500e-10 | 0.117 | 400754 |
Showing 1 to 10 of 16 entries
| Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
|---|---|---|---|---|---|---|
| Inborn genetic diseases | 11_118597709_C_G | NA | NC_000011.10:g.118597709C>G | RCV002836021 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118581378_C_A | NA | NC_000011.10:g.118581378C>A | RCV002887370 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118583276_G_A | NA | NC_000011.10:g.118583276G>A | RCV003033987 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118593604_T_C | NA | NC_000011.10:g.118593604T>C | RCV002758916 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118592728_A_G | NA | NC_000011.10:g.118592728A>G | RCV002994045 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118600673_A_G | NA | NC_000011.10:g.118600673A>G | RCV002782506 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118600661_G_A | NA | NC_000011.10:g.118600661G>A | RCV002592585 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118597733_G_A | NA | NC_000011.10:g.118597733G>A | RCV002713318 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118597721_C_T | NA | NC_000011.10:g.118597721C>T | RCV002568752 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 11_118583902_C_A | NA | NC_000011.10:g.118583902C>A | RCV002902349 | uncertain significance | criteria provided, single submitter |
Showing 1 to 10 of 42 entries
| Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
|---|---|---|---|---|
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Severe Paediatric Disorders | green | 1 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | IUGR and IGF abnormalities | amber | 2 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Severe microcephaly | amber | 3 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Skeletal dysplasia | green | 3 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Fetal anomalies | green | 1 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Intellectual disability | green | 1 |
Showing 1 to 6 of 6 entries
| Disease/phenotype | Reported protein | Confidence | Literature |
|---|---|---|---|
| Short stature-micrognathia syndrome | P48444 | high | 27476655 |
Showing 1 to 1 of 1 entries