PubMed:17265047
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 19-24 | gene:54714 | denotes | CNGB3 |
| T1 | 0-13 | disease:C0152200 | denotes | Achromatopsia |
| T2 | 1261-1266 | gene:54714 | denotes | CNGB3 |
| T3 | 1324-1337 | disease:C0152200 | denotes | achromatopsia |
| R1 | T0 | T1 | associated_with | CNGB3,Achromatopsia |
| R2 | T2 | T3 | associated_with | CNGB3,achromatopsia |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 167-180 | HP_0011516 | denotes | Achromatopsia |
| T2 | 191-207 | HP_0011516 | denotes | rod monochromacy |
| T3 | 195-207 | HP_0007803 | denotes | monochromacy |
| T4 | 214-233 | HP_0000007 | denotes | autosomal recessive |
| T5 | 264-280 | HP_0000479 | denotes | retinal disorder |
| T6 | 264-280 | HP_0007901 | denotes | retinal disorder |
| T7 | 337-355 | HP_0007663 | denotes | poor visual acuity |
| T8 | 392-401 | HP_0000639 | denotes | nystagmus |
| T9 | 768-781 | HP_0011516 | denotes | achromatopsia |
| T10 | 890-909 | HP_0000007 | denotes | autosomal recessive |
| T11 | 951-964 | HP_0011516 | denotes | achromatopsia |
| T12 | 1324-1337 | HP_0011516 | denotes | achromatopsia |
| T13 | 1571-1584 | HP_0011516 | denotes | achromatopsia |
| T1 | 167-180 | HP_0011516 | denotes | Achromatopsia |
| T2 | 191-207 | HP_0011516 | denotes | rod monochromacy |
| T3 | 195-207 | HP_0007803 | denotes | monochromacy |
| T4 | 214-233 | HP_0000007 | denotes | autosomal recessive |
| T5 | 264-280 | HP_0000479 | denotes | retinal disorder |
| T6 | 264-280 | HP_0007901 | denotes | retinal disorder |
| T7 | 337-355 | HP_0007663 | denotes | poor visual acuity |
| T8 | 392-401 | HP_0000639 | denotes | nystagmus |
| T9 | 768-781 | HP_0011516 | denotes | achromatopsia |
| T10 | 890-909 | HP_0000007 | denotes | autosomal recessive |
| T11 | 951-964 | HP_0011516 | denotes | achromatopsia |
| T12 | 1324-1337 | HP_0011516 | denotes | achromatopsia |
| T13 | 1571-1584 | HP_0011516 | denotes | achromatopsia |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 17265047-0#25#33#geners867058703 | 25-33 | geners867058703 | denotes | p.T383fs |
| 17265047-0#0#13#diseaseC0152200 | 0-13 | diseaseC0152200 | denotes | Achromatopsia |
| 17265047-0#0#13#diseaseC0302129 | 0-13 | diseaseC0302129 | denotes | Achromatopsia |
| 25#33#geners8670587030#13#diseaseC0152200 | 17265047-0#25#33#geners867058703 | 17265047-0#0#13#diseaseC0152200 | associated_with | p.T383fs,Achromatopsia |
| 25#33#geners8670587030#13#diseaseC0302129 | 17265047-0#25#33#geners867058703 | 17265047-0#0#13#diseaseC0302129 | associated_with | p.T383fs,Achromatopsia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 17265047-0#19#24#gene54714 | 19-24 | gene54714 | denotes | CNGB3 |
| 17265047-0#0#13#diseaseC0152200 | 0-13 | diseaseC0152200 | denotes | Achromatopsia |
| 17265047-0#0#13#diseaseC0302129 | 0-13 | diseaseC0302129 | denotes | Achromatopsia |
| 17265047-8#17#22#gene1261 | 1497-1502 | gene1261 | denotes | CNGA3 |
| 17265047-8#91#104#diseaseC0152200 | 1571-1584 | diseaseC0152200 | denotes | achromatopsia |
| 17265047-8#91#104#diseaseC0302129 | 1571-1584 | diseaseC0302129 | denotes | achromatopsia |
| 19#24#gene547140#13#diseaseC0152200 | 17265047-0#19#24#gene54714 | 17265047-0#0#13#diseaseC0152200 | associated_with | CNGB3,Achromatopsia |
| 19#24#gene547140#13#diseaseC0302129 | 17265047-0#19#24#gene54714 | 17265047-0#0#13#diseaseC0302129 | associated_with | CNGB3,Achromatopsia |
| 17#22#gene126191#104#diseaseC0152200 | 17265047-8#17#22#gene1261 | 17265047-8#91#104#diseaseC0152200 | associated_with | CNGA3,achromatopsia |
| 17#22#gene126191#104#diseaseC0302129 | 17265047-8#17#22#gene1261 | 17265047-8#91#104#diseaseC0302129 | associated_with | CNGA3,achromatopsia |