Vitelliform Macular Dystrophy 2(Best disease) 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 | BEST1/7439 | bestrophin 1 | 11q12.3 | Chr11, NC_000011.10 (61949821..61965515) |
15695 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | IMPG2/50939 | interphotoreceptor matrix proteoglycan 2 | 3q12.3 | Chr3, NC_000003.12 (101222546..101320575, complement) |
98030 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | IMPG1/3617 | interphotoreceptor matrix proteoglycan 1 | 6q14.1 | Chr6, NC_000006.12 (75921114..76072662, complement) |
151549 nt | 17 | 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 | ||||||||
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