Desbuquois Dysplasia 1(Desbuquois dysplasia 1, Kim variant) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone 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 | CANT1/124583 | calcium activated nucleotidase 1 | 17q25.3 | Chr17, NC_000017.11 (78991716..79009764, complement) |
18049 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | XYLT1/64131 | xylosyltransferase 1 | 16p12.3 | Chr16, NC_000016.10 (17101769..17470960, complement) |
369192 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities