Celiac Disease
An Autosomal recessive mode(s) within the Gastrointestinal disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Gastrointestinal 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 | CTLA4/1493 | cytotoxic T-lymphocyte associated protein 4 | 2q33.2 | Chr2, NC_000002.12 (203867771..203873965) |
6195 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | HLA-DQA1/3117 | major histocompatibility complex, class II, DQ alpha 1 | 6p21.32 | Chr6, NC_000006.12 (32637406..32655272) |
17867 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | 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 |
Variant Information | ||||||||
Disorder Cross-References: GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |