Behcet Disease(Behçet disease) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal recessive 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 | NOD2/64127 | nucleotide binding oligomerization domain containing 2 | 16q12.1 | Chr16, NC_000016.10 (50693606..50733075) |
39470 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TNFRSF1A/7132 | TNF receptor superfamily member 1A | 12p13.31 | Chr12, NC_000012.12 (6328771..6342076, complement) |
13306 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PSTPIP1/9051 | proline-serine-threonine phosphatase interacting protein 1 | 15q24.3 | Chr15, NC_000015.10 (76994680..77037475) |
42796 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | ADA2/51816 | adenosine deaminase 2 | 22q11.1 | Chr22, NC_000022.11 (17178790..17221848, complement) |
43059 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | MEFV/4210 | MEFV innate immunity regulator, pyrin | 16p13.3 | Chr16, NC_000016.10 (3242027..3256633, complement) |
14607 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |