PubMed:15304120
Annnotations
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 1126-1131 | ProteinMutation:p|SUB|P|364|L | denotes | P364L |
| T2 | 1133-1143 | DNAMutation:c|SUB|C|1091|T | denotes | 1091 C > T |
| T3 | 1177-1182 | ProteinMutation:p|SUB|Y|486|D | denotes | Y486D |
| T4 | 1422-1426 | ProteinMutation:p|SUB|G|71|R | denotes | G71R |
| T5 | 1475-1479 | ProteinMutation:p|SUB|G|71|R | denotes | G71R |
| T6 | 1561-1566 | ProteinMutation:p|SUB|Y|486|D | denotes | Y486D |
| T7 | 1576-1581 | ProteinMutation:p|SUB|P|229|Q | denotes | P229Q |
| T8 | 1644-1649 | ProteinMutation:p|SUB|P|364|L | denotes | P364L |
| T9 | 1748-1752 | ProteinMutation:p|SUB|G|71|R | denotes | G71R |
| T10 | 1771-1776 | ProteinMutation:p|SUB|Y|486|D | denotes | Y486D |
| T11 | 1841-1845 | ProteinMutation:p|SUB|G|71|R | denotes | G71R |
| T12 | 1913-1918 | ProteinMutation:p|SUB|P|364|L | denotes | P364L |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 15304120-11#27#32#geners34993780 | 1561-1566 | geners34993780 | denotes | Y486D |
| 15304120-11#42#47#geners35350960 | 1576-1581 | geners35350960 | denotes | P229Q |
| 15304120-11#75#77#diseaseC0017551 | 1609-1611 | diseaseC0017551 | denotes | GS |
| 15304120-8#11#16#geners34993780 | 1177-1182 | geners34993780 | denotes | Y486D |
| 15304120-8#56#60#diseaseC2931132 | 1222-1226 | diseaseC2931132 | denotes | CNS2 |
| 27#32#geners3499378075#77#diseaseC0017551 | 15304120-11#27#32#geners34993780 | 15304120-11#75#77#diseaseC0017551 | associated_with | Y486D,GS |
| 42#47#geners3535096075#77#diseaseC0017551 | 15304120-11#42#47#geners35350960 | 15304120-11#75#77#diseaseC0017551 | associated_with | P229Q,GS |
| 11#16#geners3499378056#60#diseaseC2931132 | 15304120-8#11#16#geners34993780 | 15304120-8#56#60#diseaseC2931132 | associated_with | Y486D,CNS2 |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 15304120-16#38#44#gene54658 | 2045-2051 | gene54658 | denotes | UGT1A1 |
| 15304120-16#94#96#diseaseC0017551 | 2101-2103 | diseaseC0017551 | denotes | GS |
| 15304120-3#91#97#gene54658 | 554-560 | gene54658 | denotes | UGT1A1 |
| 15304120-3#161#191#diseaseC2931132 | 624-654 | diseaseC2931132 | denotes | Crigler-Najjar syndrome type 2 |
| 38#44#gene5465894#96#diseaseC0017551 | 15304120-16#38#44#gene54658 | 15304120-16#94#96#diseaseC0017551 | associated_with | UGT1A1,GS |
| 91#97#gene54658161#191#diseaseC2931132 | 15304120-3#91#97#gene54658 | 15304120-3#161#191#diseaseC2931132 | associated_with | UGT1A1,Crigler-Najjar syndrome type 2 |