Pemphigus Vulgaris
An Autosomal dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Skin 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 | HLA-DRB1/3123 | major histocompatibility complex, class II, DR beta 1 | 6p21.32 | Chr6, NC_000006.12 (32578775..32589848, complement) |
11074 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | HLA-DQB1/3119 | major histocompatibility complex, class II, DQ beta 1 | 6p21.32 | Chr6, NC_000006.12 (32659467..32666657, complement) |
7191 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | HLA-B/3106 | major histocompatibility complex, class I, B | 6p21.33 | Chr6, NC_000006.12 (31353875..31357179, complement) |
3305 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | DSG3/1830 | desmoglein 3 | 18q12.1 | Chr18, NC_000018.10 (31447741..31478702) |
30962 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | ST18/9705 | ST18 C2H2C-type zinc finger transcription factor | 8q11.23 | Chr8, NC_000008.11 (52110838..52409879, complement) |
299042 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | TNF/7124 | tumor necrosis factor | 6p21.33 | Chr6, NC_000006.12 (31575565..31578336) |
2772 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |