EuRBPDB2 File List
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000174720 | LARP7 | OTG | EVA | N.A. | GEP | G2P | UL | 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 |
|---|---|---|---|---|---|
| Number of days/week of vigorous physical activity 10+ minutes | NA | 4_112691716_G_A (rs6533635) | 8.944e-09 | 0.258 | 344084 |
| Protein quantitative trait loci (liver) [EPHX1] | He B et al, 2020 | 4_112377272_C_A (rs73841009) | 2.000e-08 | 0.277 | 287 |
| Protein quantitative trait loci (liver) [EPHX1] | He B et al, 2020 | 4_112377503_G_A (rs77273710) | 2.000e-08 | 0.277 | 287 |
| Alcohol consumption (drinks per week) (MTAG) | Liu M et al, 2019 | 4_112674713_C_T (rs6845321) | 2.000e-08 | 0.48 | 1039210 |
| FEV1 | Shrine N et al, 2019 | 4_112668772_G_A (rs10461189) | 2.701e-08 | 0.117 | 321047 |
| Meat-related diet | Niarchou M et al, 2020 | 4_112518056_C_G (rs701760) | 3.000e-08 | 0.11 | 335576 |
| Brain morphology (MOSTest) | van der Meer D et al, 2020 | 4_112509596_C_T (rs12641188) | 3.000e-08 | 0.0607 | 26502 |
| Brain morphology (MOSTest) | van der Meer D et al, 2020 | 4_112509596_C_T (rs12641188) | 3.000e-08 | 0.0607 | 26502 |
| Height | Sakaue S et al, 2021 | 4_112647388_G_A (rs62317770) | 4.000e-08 | 0.778 | 525444 |
| Appendicular lean mass | Pei YF et al, 2020 | 4_112644679_G_A (rs79383654) | 4.434e-08 | 0.704 | 450243 |
Showing 1 to 10 of 10 entries
| Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
|---|---|---|---|---|---|---|
| Abnormality of brain morphology | 4_112647384_A_T | rs1060499762 | NC_000004.12:g.112647384A>T | RCV000454270 | likely pathogenic | criteria provided, single submitter |
| Alazami-Yuan syndrome | 4_112646438_C_A | NA | NC_000004.12:g.112646438C>A | RCV002471917 | pathogenic | criteria provided, single submitter |
| Alazami-Yuan syndrome | 4_112657242_TTTAG_T | rs778909076 | NC_000004.12:g.112657246_112657249del | RCV002470948 | uncertain significance | criteria provided, single submitter |
| Epileptic encephalopathy | 4_112657242_TTTAG_T | rs778909076 | NC_000004.12:g.112657246_112657249del | RCV001526548 | pathogenic | criteria provided, single submitter |
| Inborn genetic diseases | 4_112653128_G_A | NA | NC_000004.12:g.112653128G>A | RCV002555233 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 4_112647435_A_G | NA | NC_000004.12:g.112647435A>G | RCV002865769 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 4_112657309_A_T | NA | NC_000004.12:g.112657309A>T | RCV003082581 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 4_112649594_C_T | NA | NC_000004.12:g.112649594C>T | RCV002719918 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 4_112647704_A_G | NA | NC_000004.12:g.112647704A>G | RCV002898142 | uncertain significance | criteria provided, single submitter |
| Inborn genetic diseases | 4_112644692_A_G | NA | NC_000004.12:g.112644692A>G | RCV002981514 | uncertain significance | criteria provided, single submitter |
Showing 1 to 10 of 48 entries
| Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
|---|---|---|---|---|
| ALAZAMI SYNDROME | BIALLELIC, autosomal or pseudoautosomal | Fetal anomalies | green | 0 |
| ALAZAMI SYNDROME | BIALLELIC, autosomal or pseudoautosomal | Intellectual disability | green | 0 |
| Alazami syndrome | BIALLELIC, autosomal or pseudoautosomal | Intellectual disability | green | 0 |
| Alazami syndrome | BIALLELIC, autosomal or pseudoautosomal | Severe Paediatric Disorders | green | 1 |
| ALAZAMI SYNDROME | BIALLELIC, autosomal or pseudoautosomal | DDG2P | green | 3 |
| Alazami syndrome (Microcephaly and short stature) | BIALLELIC, autosomal or pseudoautosomal | Severe microcephaly | green | 2 |
| Primordial dwarfism | BIALLELIC, autosomal or pseudoautosomal | Severe microcephaly | green | 2 |
Showing 1 to 7 of 7 entries
| g2p/phenotype | Functional consequence | Allelic requirement | Panel | Confidence | Literature |
|---|---|---|---|---|---|
| ALAZAMI SYNDROME | SO_0002317 | biallelic_autosomal | DD | definitive | 26607181;26374271;21937992 |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Reported protein | Confidence | Literature |
|---|---|---|---|
| Alazami syndrome | Q4G0J3 | high | 29576627;29619239;26374271;22865833;32017898;27766953;21937992;30006060 |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Reported protein | Allele origin | Confidence | Literature |
|---|---|---|---|---|
| Alazami syndrome | La ribonucleoprotein 7, transcriptional regulator | germline | Assessed | Assessed |
Showing 1 to 1 of 1 entries