eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| corneal dystrophies | ||||
| Disease ID | 1041 |
|---|---|
| Disease | corneal dystrophies |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0000969 | Dropsy | 4 HP:0007957 | Corneal clouding | 4 HP:0000572 | Visual loss | 3 HP:0200020 | Corneal erosion | 2 HP:0000518 | Cataract | 2 HP:0000505 | Poor vision | 1 HP:0002079 | Hypoplasia of the corpus callosum | 1 HP:0000365 | Hearing impairment | 1 HP:0000613 | Extreme light sensitivity | 1 HP:0000510 | Retinitis pigmentosa | 1 HP:0000563 | Conical cornea | 1 HP:0000495 | Recurrent corneal erosions | 1 HP:0001141 | Severe visual impairment | 1 HP:0001065 | Purplish striae | 1 HP:0000547 | Tapetoretinal degeneration | 1 HP:0100033 | Tic disorder | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0000585 | Band keratopathy | 1 HP:0012531 | Pain | 1 HP:0000546 | Retinal degeneration | 1 HP:0000618 | Blindness | 1 |
| Disease ID | 1041 |
|---|---|
| Disease | corneal dystrophies |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:17) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909208 | 18568131 | 7045 | TGFBI | umls:C0010036 | BeFree | We investigated the role of TGFBI/BIGH3 in Groenouw corneal dystrophies by generating transgenic mice overexpressing TGFBI/BIGH3 containing the R555W mutation. | 0.022996614 | 2008 | TGFBI | 5 | 136056780 | C | T |
| rs121909208 | 17768377 | 7045 | TGFBI | umls:C0010036 | BeFree | R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies. | 0.022996614 | 2007 | TGFBI | 5 | 136056780 | C | T |
| rs121909209 | 17980739 | 7045 | TGFBI | umls:C0010036 | BeFree | Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy. | 0.022996614 | 2007 | TGFBI | 5 | 136056781 | G | A |
| rs121909210 | 17768377 | 7045 | TGFBI | umls:C0010036 | BeFree | R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies. | 0.022996614 | 2007 | TGFBI | 5 | 136046406 | C | A,T |
| rs121909210 | 25785536 | 7045 | TGFBI | umls:C0010036 | BeFree | To report a de novo R124C mutation of transforming growth factor β-induced (TGFBI) gene in one of dizygotic twins with corneal dystrophy of the Bowman layer. | 0.022996614 | 2015 | TGFBI | 5 | 136046406 | C | A,T |
| rs121909210 | 24801599 | 7045 | TGFBI | umls:C0010036 | BeFree | Seven lattice CD patients from four unrelated families had an identical p.H626R mutation in TGFBI, three patients from a single lattice CD family carried a p.R124C substitution in TGFBI, and a granular type 2 CD pedigree was demonstrated to carry a heterozygous TGFBI p.M619K substitution. | 0.022996614 | 2014 | TGFBI | 5 | 136046406 | C | A,T |
| rs121909210 | 9780098 | 7045 | TGFBI | umls:C0010036 | BeFree | Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three autosomal dominant corneal dystrophies--lattice type I (Arg124Cys), Avellino (Arg124His), and the variant of RBCD with geographic rather than honeycomb opacities (Arg124Leu)--are located. | 0.022996614 | 1998 | TGFBI | 5 | 136046406 | C | A,T |
| rs121909211 | 21628991 | 7045 | TGFBI | umls:C0010036 | BeFree | Many reports showed that even though the causative mutation is the same TGFBI R124H mutation, there are severe and mild phenotypes of the corneal dystrophy. | 0.022996614 | 2011 | TGFBI | 5 | 136046407 | G | A,T |
| rs121909211 | 9780098 | 7045 | TGFBI | umls:C0010036 | BeFree | Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three autosomal dominant corneal dystrophies--lattice type I (Arg124Cys), Avellino (Arg124His), and the variant of RBCD with geographic rather than honeycomb opacities (Arg124Leu)--are located. | 0.022996614 | 1998 | TGFBI | 5 | 136046407 | G | A,T |
| rs121909211 | 17096061 | 7045 | TGFBI | umls:C0010036 | BeFree | Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene. | 0.022996614 | 2007 | TGFBI | 5 | 136046407 | G | A,T |
| rs121909211 | 10422854 | 7045 | TGFBI | umls:C0010036 | BeFree | Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene. | 0.022996614 | 1999 | TGFBI | 5 | 136046407 | G | A,T |
| rs121909211 | 10889112 | 7045 | TGFBI | umls:C0010036 | BeFree | This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene. | 0.022996614 | 2000 | TGFBI | 5 | 136046407 | G | A,T |
| rs121909215 | 15885785 | 7045 | TGFBI | umls:C0010036 | BeFree | A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. | 0.022996614 | 2005 | TGFBI | 5 | 136060898 | G | A |
| rs121909215 | 19019446 | 7045 | TGFBI | umls:C0010036 | BeFree | To present the light and electron microscopic findings of a unique corneal dystrophy never before described in a German family carrying the Gly623Asp Mutation of the TGFBI gene with late clinical onset. | 0.022996614 | 2009 | TGFBI | 5 | 136060898 | G | A |
| rs371811409 | 20489584 | 29914 | UBIAD1 | umls:C0010036 | BeFree | Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. | 0.000542884 | 2010 | UBIAD1 | 1 | 11285832 | G | A |
| rs58038639 | 12543196 | 3859 | KRT12 | umls:C0010036 | BeFree | Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. | 0.001900093 | 2002 | KRT12;LOC105371777 | 17 | 40866778 | C | G |
| rs72547544 | 24801599 | 4166 | CHST6 | umls:C0010036 | BeFree | Finally, molecular analysis of CHST6 in a patient with macular CD disclosed the presence of a homozygous p.Y110C change. | 0.000542884 | 2014 | CHST6 | 16 | 75479500 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:2) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 3 | 62036724 | rs10490775 | C | T | rs10490775 | 20825314 | 1.00E-06 | NA | 2.3 | [1.64-3.22] | 130 European descent cases; 260 European descent controls | European(390) | ALL(390) | EUR(390) | ALL(390) | Fuchs's corneal dystrophy | HPOID:0000481 | Abnormality of the cornea | DOID:2566 | corneal dystrophy | D005642 | Fuchs' Endothelial Dystrophy | EFOID:0003946 | fuchs' endothelial dystrophy | Corneal disease | rs10490775-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G |
| 18 | 53210302 | rs613872 | G | T | rs613872 | 20825314 | 1.00E-18 | NA | 5.47 | [3.75-7.99] | 130 European descent cases; 260 European descent controls | European(390) | ALL(390) | EUR(390) | ALL(390) | Fuchs's corneal dystrophy | HPOID:0000481 | Abnormality of the cornea | DOID:2566 | corneal dystrophy | D005642 | Fuchs' Endothelial Dystrophy | EFOID:0003946 | fuchs' endothelial dystrophy | Corneal disease | rs613872-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1041 |
|---|---|
| Disease | corneal dystrophies |
| Case | (Waiting for update.) |