EuRBPDB2 File List
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000102974 | CTCF | OTG | EVA | GB | GEP | G2P | N.A. | UV | CG | 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 |
|---|---|---|---|---|---|
| Lymphocyte counts | Chen MH et al, 2020 | 16_67646903_G_A (rs117556162) | 3.310e-27 | 0.0766 | 524923 |
| Mean corpuscular hemoglobin | Chen MH et al, 2020 | 16_67572405_G_A (rs143875179) | 2.250e-25 | 0.164 | 486823 |
| Mean corpuscular volume | Vuckovic D et al, 2020 | 16_67508249_C_CT (rs113699397) | 2.300e-20 | 0.0965 | 408112 |
| Lung function (FEV1/FVC) | Shrine N et al, 2019 | 16_67515254_C_G (rs113868265) | 1.120e-16 | 0.0686 | 321047 |
| Red blood cell count | Astle WJ et al, 2016 | 16_67842920_A_G (rs28647874) | 1.000e-15 | 0.0647 | 172952 |
| Mean corpuscular volume | Barton AR et al, 2021 | 16_67637622_A_G (rs111743037) | 1.700e-14 | 0.212 | 444035 |
| Eosinophil counts | Barton AR et al, 2021 | 16_67637901_T_G (rs6499137) | 5.700e-14 | 0.216 | 440275 |
| Eosinophill count | NA | 16_67584340_T_C | 8.300e-14 | 0.298 | 349856 |
| Eosinophil percentage of white cells | Vuckovic D et al, 2020 | 16_67624131_A_ATATG (rs113028056) | 2.800e-13 | 0.191 | 408112 |
| Serum total protein level | Barton AR et al, 2021 | 16_67571891_C_T (rs7203742) | 3.800e-13 | 0.439 | 400482 |
Showing 1 to 10 of 27 entries
| Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
|---|---|---|---|---|---|---|
| Inborn genetic diseases | 16_67629485_G_A | NA | NC_000016.10:g.67629485G>A | RCV002407751 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 16_67611220_T_C | NA | NC_000016.10:g.67611220T>C | RCV002808967 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 16_67636739_C_T | rs149766428 | NC_000016.10:g.67636739C>T | RCV002314798 | likely benign | criteria provided, single submitter |
| Inborn genetic diseases | 16_67620774_C_T | rs143837268 | NC_000016.10:g.67620774C>T | RCV002312082 | benign | criteria provided, single submitter |
| Inborn genetic diseases | 16_67636779_C_T | rs145727304 | NC_000016.10:g.67636779C>T | RCV002314799 | benign | criteria provided, single submitter |
| Inborn genetic diseases | 16_67626597_AGAAATGCCGTTACT_A | rs2052290589 | NC_000016.10:g.67626599_67626612del | RCV001267615 | pathogenic | criteria provided, single submitter |
| Inborn genetic diseases | 16_67621522_C_G | NA | NC_000016.10:g.67621522C>G | RCV002702298 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 16_67626606_G_A | rs1259626314 | NC_000016.10:g.67626606G>A | RCV001267310 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 16_67610907_C_A | rs1555534067 | NC_000016.10:g.67610907C>A | RCV000624812 | pathogenic | criteria provided, single submitter |
| Inborn genetic diseases | 16_67626665_A_G | rs1555535747 | NC_000016.10:g.67626665A>G | RCV000622268 | uncertain significance | criteria provided, single submitter |
Showing 1 to 10 of 119 entries
| Disease/phenotype | Study ID | Ancestry | P-value | Sample size |
|---|---|---|---|---|
| autism spectrum disorder | NA | NA | 9.340e-10 | 259896 |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
|---|---|---|---|---|
| INTELLECTUAL DISABILITY | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Fetal anomalies | green | 0 |
| INTELLECTUAL DISABILITY | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Intellectual disability | green | 1 |
| INTELLECTUAL DISABILITY | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | DDG2P | green | 1 |
| Mental retardation, autosomal dominant 21 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Severe microcephaly | green | 3 |
| Mental retardation, autosomal dominant 21 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Severe Paediatric Disorders | green | 1 |
| MRD21 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Clefting | green | 0 |
Showing 1 to 6 of 6 entries
| g2p/phenotype | Functional consequence | Allelic requirement | Panel | Confidence | Literature |
|---|---|---|---|---|---|
| INTELLECTUAL DISABILITY | SO_0002317 | monoallelic_autosomal | DD | definitive | 23746550 |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Reported protein | Variant | Confidence | Literature |
|---|---|---|---|---|
| Intellectual developmental disorder, autosomal dominant 21 | P49711 | rs879255516 | high | 23746550 |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Study | Allelic requirement | Classification |
|---|---|---|---|
| syndromic intellectual disability | Intellectual Disability and Autism | AD | Definitive |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Reported protein | Allele origin | Confidence | Literature |
|---|---|---|---|---|
| CTCF-related neurodevelopmental disorder | CCCTC-binding factor | germline | Assessed | Assessed |
Showing 1 to 1 of 1 entries