EuRBPDB2 File List
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000171316 | CHD7 | OTG | EVA | N.A. | GEP | G2P | UL | 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 |
|---|---|---|---|---|---|
| Neutrophil count | Chen MH et al, 2020 | 8_60738272_A_T (rs7846314) | 2.000e-160 | 0.83 | 627215 |
| Neutrophil count | Chen MH et al, 2020 | 8_60738272_A_T (rs7846314) | 4.700e-149 | 0.83 | 519288 |
| Neutrophil count | Barton AR et al, 2021 | 8_60747604_A_G (rs11775560) | 1.600e-134 | 0.831 | 443782 |
| Neutrophil count | Vuckovic D et al, 2020 | 8_60738272_A_T (rs7846314) | 6.500e-130 | 0.83 | 408112 |
| Neutrophil percentage of white cells | Vuckovic D et al, 2020 | 8_60738272_A_T (rs7846314) | 4.800e-128 | 0.829 | 408112 |
| Neutrophil count | Sakaue S et al, 2021 | 8_60738272_A_T (rs7846314) | 3.000e-100 | 0.805 | 432666 |
| White blood cell count | Chen MH et al, 2020 | 8_60738272_A_T (rs7846314) | 2.000e-96 | 0.805 | 746667 |
| White blood cell count | Chen MH et al, 2020 | 8_60738272_A_T (rs7846314) | 5.710e-88 | 0.83 | 562243 |
| Neutrophill percentage | NA | 8_60733792_C_CA (rs35440906) | 1.750e-84 | 0.825 | 349861 |
| Neutrophill count | NA | 8_60738272_A_T (rs7846314) | 4.525e-77 | 0.83 | 349856 |
Showing 1 to 10 of 139 entries
| Disease/phenotype | Variant ID (RSID) | rsID | HGVS ID | ClinVar ID | Clinical significance | Review status |
|---|---|---|---|---|---|---|
| 3MC syndrome | 8_60850493_G_A | rs1805405695 | NC_000008.11:g.60850493G>A | RCV001261225 | pathogenic | no assertion criteria provided |
| 46,XY disorder of sex development | 8_60743055_C_A | NA | NC_000008.11:g.60743055C>A | RCV003126300 | uncertain significance | no assertion criteria provided |
| Abnormal facial shape | 8_60822055_C_A | rs367557471 | NC_000008.11:g.60822055C>A | RCV000626944 | likely pathogenic | criteria provided, single submitter |
| Atrial septal defect | 8_60822055_C_A | rs367557471 | NC_000008.11:g.60822055C>A | RCV000626944 | likely pathogenic | criteria provided, single submitter |
| Atrioventricular septal defect | 8_60852691_G_A | rs143796440 | NC_000008.11:g.60852691G>A | RCV000984479 | uncertain significance | criteria provided, single submitter |
| Atrioventricular septal defect | 8_60852691_G_A | rs143796440 | NC_000008.11:g.60852691G>A | RCV000984479 | uncertain significance | criteria provided, single submitter |
| Autism spectrum disorder | 8_60800390_G_C | NA | NC_000008.11:g.60800390G>C | RCV003127410 | likely benign | criteria provided, single submitter |
| CHARGE association | 8_60808231_G_A | rs1060504849 | NC_000008.11:g.60808231G>A | RCV000457523 | likely benign | criteria provided, single submitter |
| CHARGE association | 8_60845300_C_T | NA | NC_000008.11:g.60845300C>T | RCV003152920 | pathogenic | criteria provided, single submitter |
| CHARGE association | 8_60816376_T_A | NA | NC_000008.11:g.60816376T>A | RCV001779346 | uncertain significance | criteria provided, single submitter |
Showing 1 to 10 of 3,615 entries
| Disease/phenotype | Allelic Requirement | Genomics England Panel | Confidence category | Literature |
|---|---|---|---|---|
| Bilateral Microtia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Deafness and congenital structural abnormalities | green | 25 |
| CHARGE syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Unexplained paediatric onset end-stage renal disease | green | 0 |
| CHARGE syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Craniosynostosis | green | 5 |
| Charge syndrome | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Primary immunodeficiency | green | 13 |
| CHARGE syndrome | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Hypogonadotropic hypogonadism | green | 0 |
| CHARGE syndrome | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Severe Paediatric Disorders | green | 1 |
| CHARGE syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Deafness and congenital structural abnormalities | green | 25 |
| CHARGE syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | VACTERL-like phenotypes | green | 0 |
| CHARGE syndrome | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | CAKUT | green | 0 |
| CHARGE syndrome | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Pituitary hormone deficiency | green | 0 |
Showing 1 to 10 of 36 entries
| g2p/phenotype | Functional consequence | Allelic requirement | Panel | Confidence | Literature |
|---|---|---|---|---|---|
| CHARGE SYNDROME | SO_0002317 | monoallelic_autosomal | DD | definitive | 17334995;17661815;26590800;15300250;17937444;18074359;18978652;16400610 |
| CHARGE SYNDROME | SO_0002317 | monoallelic_autosomal | Eye | definitive | 17334995;17661815;26590800;15300250;17937444;18074359;18978652;16400610 |
Showing 1 to 2 of 2 entries
| Disease/phenotype | Reported protein | Confidence | Literature |
|---|---|---|---|
| CHARGE syndrome | Q9P2D1 | high | 16400610;19021638;21931733;18445044;18074359;25818041;16763960;22461308;21158681;22462537;15300250;20453063;21554267 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | Q9P2D1 | high | 25077900;21158681;18834967 |
| Idiopathic scoliosis 3 | Q9P2D1 | high | 17436250 |
Showing 1 to 3 of 3 entries
| Disease/phenotype | Reported protein | Variant | Confidence | Literature |
|---|---|---|---|---|
| CHARGE syndrome | Q9P2D1 | rs886040993 | high | 21158681 |
| CHARGE syndrome | Q9P2D1 | rs1057521077 | high | 22461308;21554267 |
| CHARGE syndrome | Q9P2D1 | rs794727555 | high | 21158681 |
| CHARGE syndrome | Q9P2D1 | rs117506164 | high | 22461308;21158681 |
| CHARGE syndrome | Q9P2D1 | rs377662366 | high | 21158681 |
| CHARGE syndrome | Q9P2D1 | rs746837682 | high | 22461308;21158681 |
| CHARGE syndrome | Q9P2D1 | rs373301291 | high | 22461308 |
| CHARGE syndrome | Q9P2D1 | rs773187713 | high | 18445044 |
| CHARGE syndrome | Q9P2D1 | rs121434338 | high | 22461308;21158681;15300250 |
| CHARGE syndrome | Q9P2D1 | rs200806228 | high | 22461308;25077900 |
Showing 1 to 10 of 56 entries
| Disease/phenotype | Study | Allelic requirement | Classification |
|---|---|---|---|
| CHARGE syndrome | Hearing Loss | AD | Definitive |
Showing 1 to 1 of 1 entries
| Disease/phenotype | Reported protein | Allele origin | Confidence | Literature |
|---|---|---|---|---|
| CHARGE syndrome | chromodomain helicase DNA binding protein 7 | germline | Assessed | Assessed |
| Kallmann syndrome | chromodomain helicase DNA binding protein 7 | germline | Assessed | Assessed |
| Normosmic congenital hypogonadotropic hypogonadism | chromodomain helicase DNA binding protein 7 | germline | Assessed | Assessed |
| Omenn syndrome | chromodomain helicase DNA binding protein 7 | germline | Assessed | Assessed |
Showing 1 to 4 of 4 entries