Schnyder Crystalline Corneal Dystrophy(Crystalline stromal dystrophy) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Eye 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 | UBIAD1/29914 | UbiA prenyltransferase domain containing 1 | 1p36.22 | Chr1, NC_000001.11 (11273198..11299574) |
26377 nt | 4 | 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 Human Phenotype Ontology NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |