Adisons Disease
An Autosomal recessive mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Endocrine 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 | PTPN22/26191 | protein tyrosine phosphatase non-receptor type 22 | 1p13.2 | Chr1, NC_000001.11 (113813811..113871759, complement) |
57949 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | 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 |
| 3 | 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 |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |