Systemic Lupus Erythematosus(Lupus nephritis)
An Autosomal dominant mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Immune disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | IRF5/3663 | interferon regulatory factor 5 | 7q32.1 | Chr7, NC_000007.14 (128937032..128950038) |
13007 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | BLK/640 | BLK proto-oncogene, Src family tyrosine kinase | 8p23.1 | Chr8, NC_000008.11 (11494387..11564599) |
70213 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | TREX1/11277 | three prime repair exonuclease 1 | 3p21.31 | Chr3, NC_000003.12 (48465830..48467645) |
1816 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | SOCS1/8651 | suppressor of cytokine signaling 1 | 16p13.13 | Chr16, NC_000016.10 (11254417..11256204, complement) |
1788 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
5 | TLR7/51284 | toll like receptor 7 | Xp22.2 | ChrX, NC_000023.11 (12867072..12890361) |
23290 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |