eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| stargardt disease 1 | ||||
| Disease ID | 1958 |
|---|---|
| Disease | stargardt disease 1 |
| Synonym | macular dystrophy with flecks type 1 macular dystrophy with flecks, type 1 stargardt disease 1 (disorder) stgd stgd1 |
| OMIM | |
| DOID | |
| UMLS | C1855465 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1958 |
|---|---|
| Disease | stargardt disease 1 |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0008035 | Retinitis pigmentosa inversa HP:0011504 | Bull's eye maculopathy HP:0000608 | Macular degeneration |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1958 |
|---|---|
| Disease | stargardt disease 1 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:3) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| ABCA4 | NM_000350.2: c.5882G>A, p.(Gly1961Glu) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
| ABCA4 | NM_000350.2: c.6148G>C, p.(Val2050Leu) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
| ABCA4 | p.G1961E | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:80) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909204 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94043443 | G | A |
| rs121909205 | 9503029 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. | 0.442442977 | 1998 | ABCA4 | 1 | 94120994 | G | T,A |
| rs121909205 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94120994 | G | T,A |
| rs121909206 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94015766 | G | T |
| rs121909207 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94014665 | G | C |
| rs147876778 | NA | 54714 | CNGB3 | umls:C1855465 | CLINVAR | NA | 0.360271442 | NA | CNGB3 | 8 | 86632864 | C | T |
| rs150774447 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94111579 | C | A,T |
| rs1762111 | 10958763 | 24 | ABCA4 | umls:C1855465 | UNIPROT | We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene. | 0.442442977 | 2000 | ABCA4 | 1 | 94021934 | A | G |
| rs1800548 | 10958763 | 24 | ABCA4 | umls:C1855465 | UNIPROT | We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene. | 0.442442977 | 2000 | ABCA4 | 1 | 94077833 | C | T |
| rs1800552 | 10746567 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. | 0.442442977 | 2000 | ABCA4 | 1 | 94010821 | C | T |
| rs1800553 | 10206579 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. | 0.442442977 | 1999 | ABCA4 | 1 | 94008251 | C | T |
| rs1800553 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94008251 | C | T |
| rs1800728 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94011395 | A | G |
| rs1801269 | 18977788 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. | 0.442442977 | 2009 | ABCA4 | 1 | 94041345 | C | A |
| rs1801581 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94047009 | C | T,A |
| rs200692438 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94060733 | A | C |
| rs2297669 | 11527935 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | 0.442442977 | 2001 | ABCA4 | 1 | 94001069 | G | A,T |
| rs28938473 | 10958763 | 24 | ABCA4 | umls:C1855465 | UNIPROT | We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene. | 0.442442977 | 2000 | ABCA4 | 1 | 94007731 | G | A |
| rs35365413 | NA | 54714 | CNGB3 | umls:C1855465 | CLINVAR | NA | 0.360271442 | NA | CNGB3 | 8 | 86628994 | A | C,T |
| rs35365413 | 15712225 | 54714 | CNGB3 | umls:C1855465 | UNIPROT | We found two novel CNGB3 changes in three patients with juvenile macular degeneration, a phenotype not previously associated with mutations in the cone channel subunits. | 0.360271442 | 2005 | CNGB3 | 8 | 86628994 | A | C,T |
| rs397515360 | NA | 54714 | CNGB3 | umls:C1855465 | CLINVAR | NA | 0.360271442 | NA | CNGB3 | 8 | 86643781 | G | - |
| rs398123339 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94113068 | T | C |
| rs41292677 | 11527935 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | 0.442442977 | 2001 | ABCA4 | 1 | 94001992 | C | G |
| rs41292677 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94001992 | C | G |
| rs527236129 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94047039 | T | A |
| rs56357060 | 18977788 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. | 0.442442977 | 2009 | ABCA4 | 1 | 94030483 | C | T |
| rs564759960 | NA | 54714 | CNGB3 | umls:C1855465 | CLINVAR | NA | 0.360271442 | NA | CNGB3 | 8 | 86632879 | T | C |
| rs58331765 | 18977788 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. | 0.442442977 | 2009 | ABCA4 | 1 | 94047046 | C | T |
| rs58331765 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94047046 | C | T |
| rs61748521 | 10958763 | 24 | ABCA4 | umls:C1855465 | UNIPROT | We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene. | 0.442442977 | 2000 | ABCA4 | 1 | 93997869 | G | C,A |
| rs61748535 | NA | 24 | ABCA4 | umls:C1855465 | UNIPROT | NA | 0.442442977 | NA | ABCA4 | 1 | 94098988 | C | T |
| rs61748536 | 10206579 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. | 0.442442977 | 1999 | ABCA4 | 1 | 94098944 | G | C,A |
| rs61748548 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94080559 | A | C |
| rs61748550 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94079339 | G | A |
| rs61748559 | 10746567 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. | 0.442442977 | 2000 | ABCA4 | 1 | 94063157 | C | T,G |
| rs61748559 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94063157 | C | T,G |
| rs61749417 | 11527935 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | 0.442442977 | 2001 | ABCA4 | 1 | 94062587 | C | T |
| rs61749435 | 10206579 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. | 0.442442977 | 1999 | ABCA4 | 1 | 94055152 | A | G |
| rs61749438 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94055133 | C | T |
| rs61749440 | 10711710 | 24 | ABCA4 | umls:C1855465 | UNIPROT | In 6 (55%) of 11 families, the first-degree relatives of patients with STGD1 were diagnosed with early AMD, supporting the previous observation that some STGD1 alleles are also associated with AMD. | 0.442442977 | 2000 | ABCA4 | 1 | 94048921 | G | A |
| rs61749446 | 11379881 | 24 | ABCA4 | umls:C1855465 | UNIPROT | In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22). | 0.442442977 | 2001 | ABCA4 | 1 | 94047010 | G | C,A |
| rs61749454 | 11527935 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | 0.442442977 | 2001 | ABCA4 | 1 | 94044697 | A | G |
| rs61749455 | 11379881 | 24 | ABCA4 | umls:C1855465 | UNIPROT | In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22). | 0.442442977 | 2001 | ABCA4 | 1 | 94044692 | C | G,A |
| rs61750061 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94043420 | C | T |
| rs61750064 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94042878 | - | AC |
| rs61750065 | NA | 24 | ABCA4 | umls:C1855465 | UNIPROT | NA | 0.442442977 | NA | ABCA4 | 1 | 94042877 | G | A |
| rs61750120 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94042767 | G | A |
| rs61750120 | 10206579 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. | 0.442442977 | 1999 | ABCA4 | 1 | 94042767 | G | A |
| rs61750126 | 11384574 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? | 0.442442977 | 2001 | ABCA4 | 1 | 94040048 | A | C |
| rs61750129 | 11527935 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | 0.442442977 | 2001 | ABCA4 | 1 | 94032007 | C | T |
| rs61750130 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94031110 | G | A |
| rs61750152 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94025011 | G | A |
| rs61750200 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94098928 | G | A |
| rs61750563 | NA | 24 | ABCA4 | umls:C1855465 | UNIPROT | NA | 0.442442977 | NA | ABCA4 | 1 | 94019701 | C | T |
| rs61750641 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94005499 | C | T |
| rs61750641 | 11379881 | 24 | ABCA4 | umls:C1855465 | UNIPROT | In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22). | 0.442442977 | 2001 | ABCA4 | 1 | 94005499 | C | T |
| rs61750648 | 11379881 | 24 | ABCA4 | umls:C1855465 | UNIPROT | In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22). | 0.442442977 | 2001 | ABCA4 | 1 | 94001072 | G | A |
| rs61750654 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94000870 | G | A |
| rs61751374 | 10206579 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. | 0.442442977 | 1999 | ABCA4 | 1 | 94043413 | G | A |
| rs61751374 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94043413 | G | A |
| rs61751385 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94063110 | A | C |
| rs61751392 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94063250 | A | G |
| rs61751399 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94041367 | C | T |
| rs61751402 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94029515 | C | T |
| rs61751408 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94005509 | G | A |
| rs61751408 | 11379881 | 24 | ABCA4 | umls:C1855465 | UNIPROT | In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22). | 0.442442977 | 2001 | ABCA4 | 1 | 94005509 | G | A |
| rs61752435 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94025050 | T | C |
| rs61753029 | 18334942 | 24 | ABCA4 | umls:C1855465 | BeFree | A patient, who exhibited a STGD phenotype, was found to be homozygous for the p.Asn1805Asp (c.5413A>G) mutation in ABCA4. | 0.442442977 | 2008 | ABCA4 | 1 | 94014590 | T | C |
| rs61753033 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94008767 | A | G |
| rs62642564 | 10206579 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. | 0.442442977 | 1999 | ABCA4 | 1 | 94001068 | C | T,G |
| rs62642573 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94031054 | C | T,A |
| rs62642574 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94024994 | C | T |
| rs62642575 | 10958763 | 24 | ABCA4 | umls:C1855465 | UNIPROT | We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene. | 0.442442977 | 2000 | ABCA4 | 1 | 94024978 | G | A |
| rs62645958 | NA | 24 | ABCA4 | umls:C1855465 | UNIPROT | NA | 0.442442977 | NA | ABCA4 | 1 | 94113062 | C | T |
| rs62646863 | 18977788 | 24 | ABCA4 | umls:C1855465 | UNIPROT | Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. | 0.442442977 | 2009 | ABCA4 | 1 | 94103119 | T | C |
| rs62654395 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94111546 | C | T,A |
| rs76157638 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94051698 | C | G |
| rs76157638 | 10612508 | 24 | ABCA4 | umls:C1855465 | UNIPROT | A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. | 0.442442977 | 1999 | ABCA4 | 1 | 94051698 | C | G |
| rs794727531 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94029555 | G | A |
| rs794727903 | NA | 24 | ABCA4 | umls:C1855465 | CLINVAR | NA | 0.442442977 | NA | ABCA4 | 1 | 94080697 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000608 | Macular degeneration | MP:0008584 | photoreceptor outer segment degeneration | retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin |
| HP:0011504 | Bull's eye maculopathy | MP:0005551 | abnormal eye electrophysiology | any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram) |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000608 | Macular degeneration | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0008035 | Retinitis pigmentosa inversa | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0011504 | Bull's eye maculopathy | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| Disease ID | 1958 |
|---|---|
| Disease | stargardt disease 1 |
| Case | (Waiting for update.) |