PubMed:7481768
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 329-334 | gene:3600 | denotes | IL-15 |
| T1 | 143-148 | disease:C1279481 | denotes | XSCID |
| T2 | 329-334 | gene:3600 | denotes | IL-15 |
| T3 | 100-141 | disease:C1279481 | denotes | X-linked severe combined immunodeficiency |
| T4 | 285-298 | gene:3558 | denotes | interleukin-2 |
| T5 | 100-141 | disease:C1279481 | denotes | X-linked severe combined immunodeficiency |
| T6 | 285-298 | gene:3558 | denotes | interleukin-2 |
| T7 | 143-148 | disease:C1279481 | denotes | XSCID |
| T8 | 300-304 | gene:3558 | denotes | IL-2 |
| T9 | 100-141 | disease:C1279481 | denotes | X-linked severe combined immunodeficiency |
| T10 | 319-323 | gene:3578 | denotes | IL-9 |
| T11 | 100-141 | disease:C1279481 | denotes | X-linked severe combined immunodeficiency |
| T12 | 307-311 | gene:3565 | denotes | IL-4 |
| T13 | 100-141 | disease:C1279481 | denotes | X-linked severe combined immunodeficiency |
| T14 | 313-317 | gene:3574 | denotes | IL-7 |
| T15 | 100-141 | disease:C1279481 | denotes | X-linked severe combined immunodeficiency |
| T16 | 300-304 | gene:3558 | denotes | IL-2 |
| T17 | 143-148 | disease:C1279481 | denotes | XSCID |
| T18 | 481-485 | gene:3718 | denotes | Jak3 |
| T19 | 501-506 | disease:C1279481 | denotes | XSCID |
| T20 | 369-373 | gene:3718 | denotes | Jak3 |
| T21 | 501-506 | disease:C1279481 | denotes | XSCID |
| R1 | T0 | T1 | associated_with | IL-15,XSCID |
| R2 | T2 | T3 | associated_with | IL-15,X-linked severe combined immunodeficiency |
| R3 | T4 | T5 | associated_with | interleukin-2,X-linked severe combined immunodeficiency |
| R4 | T6 | T7 | associated_with | interleukin-2,XSCID |
| R5 | T8 | T9 | associated_with | IL-2,X-linked severe combined immunodeficiency |
| R6 | T10 | T11 | associated_with | IL-9,X-linked severe combined immunodeficiency |
| R7 | T12 | T13 | associated_with | IL-4,X-linked severe combined immunodeficiency |
| R8 | T14 | T15 | associated_with | IL-7,X-linked severe combined immunodeficiency |
| R9 | T16 | T17 | associated_with | IL-2,XSCID |
| R10 | T18 | T19 | associated_with | Jak3,XSCID |
| R11 | T20 | T21 | associated_with | Jak3,XSCID |
jnlpba-st-training
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 12-16 | protein | denotes | Jak3 |
| T2 | 59-63 | protein | denotes | Jak3 |
| T3 | 177-221 | DNA | denotes | cytokine receptor gamma chain (gamma c) gene |
| T4 | 285-298 | protein | denotes | interleukin-2 |
| T5 | 300-304 | protein | denotes | IL-2 |
| T6 | 307-311 | protein | denotes | IL-4 |
| T7 | 313-317 | protein | denotes | IL-7 |
| T8 | 319-323 | protein | denotes | IL-9 |
| T9 | 329-334 | protein | denotes | IL-15 |
| T10 | 340-368 | protein | denotes | Janus family tyrosine kinase |
| T11 | 369-373 | protein | denotes | Jak3 |
| T12 | 433-440 | protein | denotes | gamma c |
| T13 | 481-485 | protein | denotes | Jak3 |
| T14 | 636-682 | cell_line | denotes | Epstein-Barr virus (EBV)-transformed cell line |
| T15 | 700-711 | cell_type | denotes | lymphocytes |
| T16 | 723-730 | protein | denotes | gamma c |
| T17 | 753-765 | protein | denotes | Jak3 protein |
| T18 | 793-811 | RNA | denotes | Jak3 messenger RNA |
| T19 | 960-975 | protein | denotes | Jak3 JH4 domain |
| T20 | 1007-1011 | protein | denotes | Jak3 |
| T21 | 1036-1040 | protein | denotes | Jak3 |
| T22 | 1131-1135 | protein | denotes | IL-4 |
| T23 | 1148-1153 | protein | denotes | Stat6 |
| T24 | 1161-1186 | cell_line | denotes | EBV-transformed cell line |
| T25 | 1255-1262 | protein | denotes | gamma c |
| T26 | 1280-1284 | protein | denotes | Jak3 |
| T27 | 1294-1298 | protein | denotes | Jak3 |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 7481768-1#196#209#gene3558 | 285-298 | gene3558 | denotes | interleukin-2 |
| 7481768-1#211#215#gene3558 | 300-304 | gene3558 | denotes | IL-2 |
| 7481768-1#218#222#gene3565 | 307-311 | gene3565 | denotes | IL-4 |
| 7481768-1#224#228#gene3574 | 313-317 | gene3574 | denotes | IL-7 |
| 7481768-1#230#234#gene3578 | 319-323 | gene3578 | denotes | IL-9 |
| 7481768-1#240#245#gene3600 | 329-334 | gene3600 | denotes | IL-15 |
| 7481768-1#11#52#diseaseC1279481 | 100-141 | diseaseC1279481 | denotes | X-linked severe combined immunodeficiency |
| 7481768-1#54#59#diseaseC1279481 | 143-148 | diseaseC1279481 | denotes | XSCID |
| 7481768-1#11#52#diseaseC1279481 | 100-141 | diseaseC1279481 | denotes | X-linked severe combined immunodeficiency |
| 7481768-2#33#37#gene3718 | 369-373 | gene3718 | denotes | Jak3 |
| 7481768-2#145#149#gene3718 | 481-485 | gene3718 | denotes | Jak3 |
| 7481768-2#165#170#diseaseC1279481 | 501-506 | diseaseC1279481 | denotes | XSCID |
| 196#209#gene355811#52#diseaseC1279481 | 7481768-1#196#209#gene3558 | 7481768-1#11#52#diseaseC1279481 | associated_with | interleukin-2,X-linked severe combined immunodeficiency |
| 196#209#gene355854#59#diseaseC1279481 | 7481768-1#196#209#gene3558 | 7481768-1#54#59#diseaseC1279481 | associated_with | interleukin-2,XSCID |
| 196#209#gene355811#52#diseaseC1279481 | 7481768-1#196#209#gene3558 | 7481768-1#11#52#diseaseC1279481 | associated_with | interleukin-2,X-linked severe combined immunodeficiency |
| 211#215#gene355811#52#diseaseC1279481 | 7481768-1#211#215#gene3558 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-2,X-linked severe combined immunodeficiency |
| 211#215#gene355854#59#diseaseC1279481 | 7481768-1#211#215#gene3558 | 7481768-1#54#59#diseaseC1279481 | associated_with | IL-2,XSCID |
| 211#215#gene355811#52#diseaseC1279481 | 7481768-1#211#215#gene3558 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-2,X-linked severe combined immunodeficiency |
| 218#222#gene356511#52#diseaseC1279481 | 7481768-1#218#222#gene3565 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-4,X-linked severe combined immunodeficiency |
| 218#222#gene356554#59#diseaseC1279481 | 7481768-1#218#222#gene3565 | 7481768-1#54#59#diseaseC1279481 | associated_with | IL-4,XSCID |
| 218#222#gene356511#52#diseaseC1279481 | 7481768-1#218#222#gene3565 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-4,X-linked severe combined immunodeficiency |
| 224#228#gene357411#52#diseaseC1279481 | 7481768-1#224#228#gene3574 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-7,X-linked severe combined immunodeficiency |
| 224#228#gene357454#59#diseaseC1279481 | 7481768-1#224#228#gene3574 | 7481768-1#54#59#diseaseC1279481 | associated_with | IL-7,XSCID |
| 224#228#gene357411#52#diseaseC1279481 | 7481768-1#224#228#gene3574 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-7,X-linked severe combined immunodeficiency |
| 230#234#gene357811#52#diseaseC1279481 | 7481768-1#230#234#gene3578 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-9,X-linked severe combined immunodeficiency |
| 230#234#gene357854#59#diseaseC1279481 | 7481768-1#230#234#gene3578 | 7481768-1#54#59#diseaseC1279481 | associated_with | IL-9,XSCID |
| 230#234#gene357811#52#diseaseC1279481 | 7481768-1#230#234#gene3578 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-9,X-linked severe combined immunodeficiency |
| 240#245#gene360011#52#diseaseC1279481 | 7481768-1#240#245#gene3600 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-15,X-linked severe combined immunodeficiency |
| 240#245#gene360054#59#diseaseC1279481 | 7481768-1#240#245#gene3600 | 7481768-1#54#59#diseaseC1279481 | associated_with | IL-15,XSCID |
| 240#245#gene360011#52#diseaseC1279481 | 7481768-1#240#245#gene3600 | 7481768-1#11#52#diseaseC1279481 | associated_with | IL-15,X-linked severe combined immunodeficiency |
| 33#37#gene3718165#170#diseaseC1279481 | 7481768-2#33#37#gene3718 | 7481768-2#165#170#diseaseC1279481 | associated_with | Jak3,XSCID |
| 145#149#gene3718165#170#diseaseC1279481 | 7481768-2#145#149#gene3718 | 7481768-2#165#170#diseaseC1279481 | associated_with | Jak3,XSCID |
genia-medco-coref
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| C1 | 12-16 | NP | denotes | Jak3 |
| C2 | 20-39 | NP | denotes | a patient with SCID |
| C3 | 59-63 | NP | denotes | Jak3 |
| C4 | 67-87 | NP | denotes | lymphoid development |
| C5 | 100-149 | NP | denotes | X-linked severe combined immunodeficiency (XSCID) |
| C7 | 166-221 | NP | denotes | the common cytokine receptor gamma chain (gamma c) gene |
| C8 | 222-226 | NP | denotes | that |
| C9 | 307-311 | NP | denotes | IL-4 |
| C6 | 166-334 | NP | denotes | the common cytokine receptor gamma chain (gamma c) gene that encodes a shared, essential component of the receptors of interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15 |
| C10 | 336-373 | NP | denotes | The Janus family tyrosine kinase Jak3 |
| C11 | 433-440 | NP | denotes | gamma c |
| C12 | 481-485 | NP | denotes | Jak3 |
| C14 | 535-557 | NP | denotes | immunological features |
| C15 | 581-586 | NP | denotes | those |
| C16 | 590-595 | NP | denotes | XSCID |
| C13 | 523-595 | NP | denotes | A girl with immunological features indistinguishable from those of XSCID |
| C18 | 696-699 | NP | denotes | her |
| C17 | 633-711 | NP | denotes | An Epstein-Barr virus (EBV)-transformed cell line derived from her lymphocytes |
| C19 | 1131-1135 | NP | denotes | IL-4 |
| C20 | 1157-1186 | NP | denotes | the EBV-transformed cell line |
| C21 | 1192-1203 | NP | denotes | the patient |
| C22 | 1255-1262 | NP | denotes | gamma c |
| C23 | 1280-1284 | NP | denotes | Jak3 |
| C24 | 1294-1298 | NP | denotes | Jak3 |
| C25 | 1316-1336 | NP | denotes | lymphoid development |
| R1 | C3 | C1 | coref-ident | Jak3,Jak3 |
| R2 | C8 | C7 | coref-relat | that,the common cytokine receptor gamma chain (gamma c) gene |
| R3 | C10 | C3 | coref-ident | The Janus family tyrosine kinase Jak3,Jak3 |
| R4 | C11 | C6 | coref-ident | gamma c,"the common cytokine receptor gamma chain (gamma c) gene that encodes a shared, essential component of the receptors of interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15" |
| R5 | C12 | C10 | coref-ident | Jak3,The Janus family tyrosine kinase Jak3 |
| R6 | C15 | C14 | coref-pron | those,immunological features |
| R7 | C16 | C5 | coref-ident | XSCID,X-linked severe combined immunodeficiency (XSCID) |
| R8 | C13 | C2 | coref-ident | A girl with immunological features indistinguishable from those of XSCID,a patient with SCID |
| R9 | C18 | C13 | coref-pron | her,A girl with immunological features indistinguishable from those of XSCID |
| R10 | C19 | C9 | coref-ident | IL-4,IL-4 |
| R11 | C20 | C17 | coref-ident | the EBV-transformed cell line,An Epstein-Barr virus (EBV)-transformed cell line derived from her lymphocytes |
| R12 | C21 | C13 | coref-ident | the patient,A girl with immunological features indistinguishable from those of XSCID |
| R13 | C22 | C11 | coref-ident | gamma c,gamma c |
| R14 | C23 | C12 | coref-ident | Jak3,Jak3 |
| R15 | C24 | C23 | coref-ident | Jak3,Jak3 |
| R16 | C25 | C4 | coref-ident | lymphoid development,lymphoid development |
pubmed-sentences-benchmark
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| S1 | 0-88 | Sentence | denotes | Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. |
| S2 | 89-335 | Sentence | denotes | Males with X-linked severe combined immunodeficiency (XSCID) have defects in the common cytokine receptor gamma chain (gamma c) gene that encodes a shared, essential component of the receptors of interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. |
| S3 | 336-522 | Sentence | denotes | The Janus family tyrosine kinase Jak3 is the only signaling molecule known to be associated with gamma c, so it was hypothesized that defects in Jak3 might cause an XSCID-like phenotype. |
| S4 | 523-632 | Sentence | denotes | A girl with immunological features indistinguishable from those of XSCID was therefore selected for analysis. |
| S5 | 633-812 | Sentence | denotes | An Epstein-Barr virus (EBV)-transformed cell line derived from her lymphocytes had normal gamma c expression but lacked Jak3 protein and had greatly diminished Jak3 messenger RNA. |
| S6 | 813-1023 | Sentence | denotes | Sequencing revealed a different mutation on each allele: a single nucleotide insertion resulting in a frame shift and premature termination in the Jak3 JH4 domain and a nonsense mutation in the Jak3 JH2 domain. |
| S7 | 1024-1204 | Sentence | denotes | The lack of Jak3 expression correlated with impaired B cell signaling, as demonstrated by the inability of IL-4 to activate Stat6 in the EBV-transformed cell line from the patient. |
| S8 | 1205-1351 | Sentence | denotes | These observations indicate that the functions of gamma c are dependent on Jak3 and that Jak3 is essential for lymphoid development and signaling. |
GENIAcorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 12-16 | protein_molecule | denotes | Jak3 |
| T2 | 22-29 | multi_cell | denotes | patient |
| T3 | 35-39 | other_name | denotes | SCID |
| T4 | 59-63 | protein_molecule | denotes | Jak3 |
| T5 | 67-87 | other_name | denotes | lymphoid development |
| T6 | 89-94 | multi_cell | denotes | Males |
| T7 | 100-141 | other_name | denotes | X-linked severe combined immunodeficiency |
| T8 | 143-148 | other_name | denotes | XSCID |
| T9 | 177-206 | protein_subunit | denotes | cytokine receptor gamma chain |
| T10 | 208-215 | protein_subunit | denotes | gamma c |
| T11 | 285-298 | protein_molecule | denotes | interleukin-2 |
| T12 | 300-304 | protein_molecule | denotes | IL-2 |
| T13 | 307-311 | protein_molecule | denotes | IL-4 |
| T14 | 313-317 | protein_molecule | denotes | IL-7 |
| T15 | 319-323 | protein_molecule | denotes | IL-9 |
| T16 | 329-334 | protein_molecule | denotes | IL-15 |
| T17 | 340-368 | protein_family_or_group | denotes | Janus family tyrosine kinase |
| T18 | 369-373 | protein_molecule | denotes | Jak3 |
| T19 | 433-440 | protein_subunit | denotes | gamma c |
| T20 | 481-485 | protein_molecule | denotes | Jak3 |
| T21 | 501-506 | other_name | denotes | XSCID |
| T22 | 590-595 | other_name | denotes | XSCID |
| T23 | 636-654 | virus | denotes | Epstein-Barr virus |
| T24 | 656-659 | virus | denotes | EBV |
| T25 | 700-711 | cell_type | denotes | lymphocytes |
| T26 | 723-730 | protein_subunit | denotes | gamma c |
| T27 | 753-757 | protein_molecule | denotes | Jak3 |
| T28 | 793-797 | protein_molecule | denotes | Jak3 |
| T29 | 879-899 | other_name | denotes | nucleotide insertion |
| T30 | 915-926 | other_name | denotes | frame shift |
| T31 | 931-952 | other_name | denotes | premature termination |
| T32 | 960-964 | protein_molecule | denotes | Jak3 |
| T33 | 982-999 | other_name | denotes | nonsense mutation |
| T34 | 1007-1011 | protein_molecule | denotes | Jak3 |
| T35 | 1036-1040 | protein_molecule | denotes | Jak3 |
| T36 | 1077-1093 | other_name | denotes | B cell signaling |
| T37 | 1131-1135 | protein_molecule | denotes | IL-4 |
| T38 | 1148-1153 | protein_molecule | denotes | Stat6 |
| T39 | 1161-1164 | virus | denotes | EBV |
| T40 | 1255-1262 | protein_subunit | denotes | gamma c |
| T41 | 1280-1284 | protein_molecule | denotes | Jak3 |
| T42 | 1294-1298 | protein_molecule | denotes | Jak3 |
| T43 | 1316-1336 | other_name | denotes | lymphoid development |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 109-141 | HP:0004430 | denotes | severe combined immunodeficiency |