EuRBPDB2 File List
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000101680 | LAMA1 | 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 |
|---|---|---|---|---|---|
| Vertex-wise sulcal depth | van der Meer D et al, 2021 | 18_7034509_T_G (rs566655) | 5.000e-13 | 0.935 | 33748 |
| Type 2 diabetes | Vujkovic M et al, 2020 | 18_7070643_T_C (rs7240767) | 2.000e-11 | 0.926 | 1407282 |
| Type 2 diabetes | Spracklen CN et al, 2020 | 18_7076837_C_T (rs9948462) | 9.000e-10 | 0.926 | 433540 |
| Type 2 diabetes | Vujkovic M et al, 2020 | 18_7070643_T_C (rs7240767) | 5.000e-09 | 0.901 | 1114458 |
| General risk tolerance (MTAG) | Karlsson Linner R et al, 2019 | 18_6879354_C_T (rs2889535) | 5.000e-09 | 0.148 | 975353 |
| DNA methylation variation (age effect) | Zhang Q et al, 2018 | 18_7458207_C_T (rs16951805) | 5.000e-09 | 0.0605 | 954 |
| Type 2 diabetes [Lean] | Perry JR et al, 2012 | 18_7068463_C_A (rs8090011) | 8.000e-09 | 0.107 | 60647 |
| Type 2 diabetes [Lean] | Perry JR et al, 2012 | 18_7068463_C_G (rs8090011) | 8.000e-09 | 0.107 | 60647 |
| Sudden cardiac arrest [Recessive] | Aouizerat BE et al, 2011 | 18_6939948_G_A (rs597503) | 2.000e-08 | 0.794 | 605 |
| Type 2 diabetes | Mahajan A et al, 2018 | 18_7070643_T_C (rs7240767) | 2.000e-08 | 0.901 | 898130 |
Showing 1 to 10 of 17 entries
| Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
|---|---|---|---|---|---|---|
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7050911_A_G | rs200657079 | NC_000018.10:g.7050911A>G | RCV001334418 | uncertain significance | criteria provided, single submitter |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7008584_A_C | NA | NC_000018.10:g.7008584A>C | RCV001731089 | benign | criteria provided, single submitter |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7080335_G_A | NA | NC_000018.10:g.7080335G>A | RCV001647167 | likely pathogenic;pathogenic | criteria provided, multiple submitters, no conflicts |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7023175_T_C | NA | NC_000018.10:g.7023175T>C | RCV001795806 | uncertain significance | no assertion criteria provided |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7037662_C_G | NA | NC_000018.10:g.7037662C>G | RCV003131416 | uncertain significance | criteria provided, single submitter |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7012111_C_T | rs773505947 | NC_000018.10:g.7012111C>T | RCV003133162 | uncertain significance | criteria provided, single submitter |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7040092_CCT_C | NA | NC_000018.10:g.7040093_7040094del | RCV001647166 | pathogenic | criteria provided, single submitter |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_6971977_G_T | rs146652610 | NC_000018.10:g.6971977G>T | RCV001332635 | uncertain significance | criteria provided, single submitter |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7009321_G_A | NA | NC_000018.10:g.7009321G>A | RCV002211033 | pathogenic | criteria provided, single submitter |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 18_7023341_G_A | rs149208354 | NC_000018.10:g.7023341G>A | RCV001332624 | uncertain significance | criteria provided, single submitter |
Showing 1 to 10 of 364 entries
| Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
|---|---|---|---|---|
| ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | BIALLELIC, autosomal or pseudoautosomal | Ataxia and cerebellar anomalies - narrow panel | amber | 1 |
| ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | BIALLELIC, autosomal or pseudoautosomal | Intellectual disability | green | 3 |
| ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | BIALLELIC, autosomal or pseudoautosomal | Rare multisystem ciliopathy disorders | green | 2 |
| ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | BIALLELIC, autosomal or pseudoautosomal | Ophthalmological ciliopathies | amber | 2 |
| ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | BIALLELIC, autosomal or pseudoautosomal | Neurological ciliopathies | amber | 2 |
| AUTOSOMAL RECESSIVE MENTAL RETARDATION | BIALLELIC, autosomal or pseudoautosomal | DDG2P | green | 1 |
| AUTOSOMAL RECESSIVE MENTAL RETARDATION | BIALLELIC, autosomal or pseudoautosomal | Fetal anomalies | green | 0 |
| CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY | BIALLELIC, autosomal or pseudoautosomal | DDG2P | green | 1 |
| CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY | BIALLELIC, autosomal or pseudoautosomal | DDG2P | green | 1 |
| Poretti-Boltshauser syndrome | BIALLELIC, autosomal or pseudoautosomal | Ophthalmological ciliopathies | amber | 2 |
Showing 1 to 10 of 17 entries
| g2p/phenotype | Functional consequence | Allelic requirement | Panel | Confidence | Literature |
|---|---|---|---|---|---|
| CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY | SO_0002317 | biallelic_autosomal | DD | definitive | 21937992;25105227 |
| CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY | SO_0002317 | biallelic_autosomal | DD | definitive | 21937992;25105227 |
| Poretti-Boltshauser syndrome | SO_0002317 | biallelic_autosomal | Eye | definitive | NA |
Showing 1 to 3 of 3 entries
| Disease/phenotype | Reported protein | Confidence | Literature |
|---|---|---|---|
| Poretti-Boltshauser syndrome | P25391 | high | 25105227 |
| Poretti-Boltshauser syndrome | P25391 | high | 25105227 |
Showing 1 to 2 of 2 entries
| Disease/phenotype | Reported protein | Allele origin | Confidence | Literature |
|---|---|---|---|---|
| Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | laminin subunit alpha 1 | germline | Assessed | Assessed |
Showing 1 to 1 of 1 entries