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PubMed:22899009 JSONTXT

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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