PubMed:15531312
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 15531312-0#46#55#geners267607109 | 1628-1637 | geners267607109 | denotes | Ala546Asp |
| 15531312-0#60#69#geners267607110 | 1642-1651 | geners267607110 | denotes | Pro551Gln |
| 15531312-0#0#25#diseaseC0155127 | 1538-1607 | diseaseC0155127 | denotes | LUSIONS: We present a phenotypic variant of lattice corneal dystrophy |
| 46#55#geners2676071090#25#diseaseC0155127 | 15531312-0#46#55#geners267607109 | 15531312-0#0#25#diseaseC0155127 | associated_with | Ala546Asp,LUSIONS: We present a phenotypic variant of lattice corneal dystrophy |
| 60#69#geners2676071100#25#diseaseC0155127 | 15531312-0#60#69#geners267607110 | 15531312-0#0#25#diseaseC0155127 | associated_with | Pro551Gln,LUSIONS: We present a phenotypic variant of lattice corneal dystrophy |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 15531312-0#94#99#gene7045 | 1687-1692 | gene7045 | denotes | TGFBI |
| 15531312-0#0#25#diseaseC0155127 | 1538-1607 | diseaseC0155127 | denotes | LUSIONS: We present a phenotypic variant of lattice corneal dystrophy |
| 94#99#gene70450#25#diseaseC0155127 | 15531312-0#94#99#gene7045 | 15531312-0#0#25#diseaseC0155127 | associated_with | TGFBI,LUSIONS: We present a phenotypic variant of lattice corneal dystrophy |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-25 | HP:0001149 | denotes | Lattice corneal dystrophy |
| AB1 | 149-174 | HP:0001149 | denotes | lattice corneal dystrophy |
| AB2 | 1173-1199 | HP:0007802 | denotes | granular corneal dystrophy |
| AB3 | 1582-1607 | HP:0001149 | denotes | lattice corneal dystrophy |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1687-1692 | gene:7045 | denotes | TGFBI |
| T1 | 1582-1607 | disease:C0155127 | denotes | lattice corneal dystrophy |
| R1 | T0 | T1 | associated_with | TGFBI,lattice corneal dystrophy |