PubMed:22899009
Annnotations
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 0-8 | gene:79650 | denotes | C16orf57 |
T1 | 28-57 | disease:C1858723 | denotes | poikiloderma with neutropenia |
T2 | 146-154 | gene:79650 | denotes | C16orf57 |
T3 | 235-264 | disease:C1858723 | denotes | poikiloderma with neutropenia |
T4 | 146-154 | gene:79650 | denotes | C16orf57 |
T5 | 266-268 | disease:C1858723 | denotes | PN |
T6 | 345-353 | gene:79650 | denotes | C16orf57 |
T7 | 463-465 | disease:C0265965 | denotes | DC |
T8 | 345-353 | gene:79650 | denotes | C16orf57 |
T9 | 439-461 | disease:C0265965 | denotes | dyskeratosis congenita |
T10 | 345-353 | gene:79650 | denotes | C16orf57 |
T11 | 430-433 | disease:C0032339 | denotes | RTS |
T12 | 345-353 | gene:79650 | denotes | C16orf57 |
T13 | 403-428 | disease:C0032339 | denotes | Rothmund-Thomson syndrome |
R1 | T0 | T1 | associated_with | C16orf57,poikiloderma with neutropenia |
R2 | T2 | T3 | associated_with | C16orf57,poikiloderma with neutropenia |
R3 | T4 | T5 | associated_with | C16orf57,PN |
R4 | T6 | T7 | associated_with | C16orf57,DC |
R5 | T8 | T9 | associated_with | C16orf57,dyskeratosis congenita |
R6 | T10 | T11 | associated_with | C16orf57,RTS |
R7 | T12 | T13 | associated_with | C16orf57,Rothmund-Thomson syndrome |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 235-247 | HP_0001029 | denotes | poikiloderma |
T2 | 253-264 | HP_0001875 | denotes | neutropenia |
T3 | 288-307 | HP_0000007 | denotes | autosomal recessive |
T4 | 507-529 | HP_0003254 | denotes | involved in DNA repair |
T5 | 798-821 | HP_0001507 | denotes | defects and cell growth |
T6 | 815-829 | HP_0001507 | denotes | growth defects |
Allie
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
SS1_22899009_1_0 | 235-264 | expanded | denotes | poikiloderma with neutropenia |
SS2_22899009_1_0 | 266-268 | abbr | denotes | PN |
SS1_22899009_2_0 | 403-428 | expanded | denotes | Rothmund-Thomson syndrome |
SS2_22899009_2_0 | 430-433 | abbr | denotes | RTS |
SS1_22899009_2_1 | 439-461 | expanded | denotes | dyskeratosis congenita |
SS2_22899009_2_1 | 463-465 | abbr | denotes | DC |
SS1_22899009_3_0 | 683-700 | expanded | denotes | small nuclear RNA |
SS2_22899009_3_0 | 702-707 | abbr | denotes | snRNA |
AE1_22899009_1_0 | SS1_22899009_1_0 | SS2_22899009_1_0 | abbreviatedTo | poikiloderma with neutropenia,PN |
AE1_22899009_2_0 | SS1_22899009_2_0 | SS2_22899009_2_0 | abbreviatedTo | Rothmund-Thomson syndrome,RTS |
AE1_22899009_2_1 | SS1_22899009_2_1 | SS2_22899009_2_1 | abbreviatedTo | dyskeratosis congenita,DC |
AE1_22899009_3_0 | SS1_22899009_3_0 | SS2_22899009_3_0 | abbreviatedTo | small nuclear RNA,snRNA |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
22899009-0#0#8#gene79650 | 0-8 | gene79650 | denotes | C16orf57 |
22899009-0#28#57#diseaseC1858723 | 28-57 | diseaseC1858723 | denotes | poikiloderma with neutropenia |
22899009-2#28#36#gene79650 | 345-353 | gene79650 | denotes | C16orf57 |
22899009-2#86#111#diseaseC0032339 | 403-428 | diseaseC0032339 | denotes | Rothmund-Thomson syndrome |
22899009-2#113#116#diseaseC0032339 | 430-433 | diseaseC0032339 | denotes | RTS |
22899009-2#122#144#diseaseC0265965 | 439-461 | diseaseC0265965 | denotes | dyskeratosis congenita |
22899009-2#146#148#diseaseC0265965 | 463-465 | diseaseC0265965 | denotes | DC |
0#8#gene7965028#57#diseaseC1858723 | 22899009-0#0#8#gene79650 | 22899009-0#28#57#diseaseC1858723 | associated_with | C16orf57,poikiloderma with neutropenia |
28#36#gene7965086#111#diseaseC0032339 | 22899009-2#28#36#gene79650 | 22899009-2#86#111#diseaseC0032339 | associated_with | C16orf57,Rothmund-Thomson syndrome |
28#36#gene79650113#116#diseaseC0032339 | 22899009-2#28#36#gene79650 | 22899009-2#113#116#diseaseC0032339 | associated_with | C16orf57,RTS |
28#36#gene79650122#144#diseaseC0265965 | 22899009-2#28#36#gene79650 | 22899009-2#122#144#diseaseC0265965 | associated_with | C16orf57,dyskeratosis congenita |
28#36#gene79650146#148#diseaseC0265965 | 22899009-2#28#36#gene79650 | 22899009-2#146#148#diseaseC0265965 | associated_with | C16orf57,DC |
LocText
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-8 | uniprot:Q9BQ65 | denotes | C16orf57 |
T2 | 146-154 | uniprot:Q9BQ65 | denotes | C16orf57 |
T3 | 165-170 | taxonomy:9606 | denotes | human |
T4 | 345-353 | uniprot:Q9BQ65 | denotes | C16orf57 |
T5 | 576-600 | taxonomy:4932 | denotes | Saccharomyces cerevisiae |
T6 | 619-624 | taxonomy:4932 | denotes | yeast |
T7 | 637-645 | uniprot:Q9BQ65 | denotes | C16orf57 |
T8 | 647-651 | uniprot:Q12208 | denotes | USB1 |
T9 | 653-660 | uniprot:Q12208 | denotes | YLR132C |
T10 | 689-696 | go:GO:0005634 | denotes | nuclear |
T11 | 740-744 | uniprot:Q12208 | denotes | Usb1 |
T12 | 924-928 | uniprot:Q12208 | denotes | Usb1 |
T13 | 1049-1054 | taxonomy:9606 | denotes | human |
T14 | 1136-1141 | taxonomy:4932 | denotes | yeast |
T15 | 1143-1151 | uniprot:Q9BQ65 | denotes | C16orf57 |
T16 | 1285-1293 | uniprot:Q9BQ65 | denotes | C16orf57 |
R1 | T7 | T10 | localizeTo | C16orf57,nuclear |
R2 | T8 | T10 | localizeTo | USB1,nuclear |
R3 | T9 | T10 | localizeTo | YLR132C,nuclear |