Stargardt Disease(Fundus flavimaculatus) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive 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 | ELOVL4/6785 | ELOVL fatty acid elongase 4 | 6q14.1 | Chr6, NC_000006.12 (79914814..79947553, complement) |
32740 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PROM1/8842 | prominin 1 | 4p15.32 | Chr4, NC_000004.12 (15968228..16084023, complement) |
115796 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | ABCA4/24 | ATP binding cassette subfamily A member 4 | 1p22.1 | Chr1, NC_000001.11 (93992834..94121148, complement) |
128315 nt | 50 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | BEST1/7439 | bestrophin 1 | 11q12.3 | Chr11, NC_000011.10 (61949821..61965515) |
15695 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CRX/1406 | cone-rod homeobox | 19q13.33 | Chr19, NC_000019.10 (47821937..47843324) |
21388 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | FLVCR1/28982 | FLVCR choline and heme transporter 1 | 1q32.3 | Chr1, NC_000001.11 (212858275..212899363) |
41089 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | COL2A1/1280 | collagen type II alpha 1 chain | 12q13.11-q13.2 | Chr12, NC_000012.12 (47972967..48006212, complement) |
33246 nt | 57 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | PRPH2/5961 | peripherin 2 | 6p21.1 | Chr6, NC_000006.12 (42696598..42722597, complement) |
26000 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | RDH12/145226 | retinol dehydrogenase 12 | 14q24.1 | Chr14, NC_000014.9 (67701886..67734451) |
32566 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | LRIT3/345193 | leucine rich repeat, Ig-like and transmembrane domains 3 | 4q25 | Chr4, NC_000004.12 (109848107..109872315) |
24209 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |