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PubMed:10631923 JSONTXT

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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 191-210 HP_0001199 denotes Triphalangeal thumb
T2 205-228 HP_0001172 denotes thumb and ear anomalies
T3 215-228 HP_0000598 denotes ear anomalies
T4 215-228 HP_0000356 denotes ear anomalies
T5 246-254 HP_0000365 denotes Deafness
T6 458-484 HP_0002574 denotes episodes of abdominal pain
T7 470-484 HP_0002027 denotes abdominal pain
T8 480-484 HP_0012531 denotes pain
T9 537-542 HP_0000969 denotes edema
T10 706-730 HP_0001256 denotes mildly mentally retarded
T11 713-730 HP_0001249 denotes mentally retarded
T12 783-796 HP_0004322 denotes short stature
T13 815-834 HP_0001545 denotes antepositioned anus
T14 867-879 HP_0000369 denotes low set ears
T15 881-898 HP_0000308 denotes microretrognathia
T16 903-911 HP_0000365 denotes deafness

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10631923-13#71#76#gene6299 1042-1047 gene6299 denotes SALL1
10631923-13#160#165#gene6299 1131-1136 gene6299 denotes SALL1
10631923-13#172#175#diseaseC0265246 1143-1146 diseaseC0265246 denotes TBS
71#76#gene6299172#175#diseaseC0265246 10631923-13#71#76#gene6299 10631923-13#172#175#diseaseC0265246 associated_with SALL1,TBS
160#165#gene6299172#175#diseaseC0265246 10631923-13#160#165#gene6299 10631923-13#172#175#diseaseC0265246 associated_with SALL1,TBS

BioLarkPubmedHPO

Id Subject Object Predicate Lexical cue
HP:0000006 91-109 HP:0000006 denotes dominant inherited
HP:0002023 173-189 HP:0002023 denotes imperforate anus
HP:0001199 191-210 HP:0001199 denotes Triphalangeal thumb
HP:0000598 215-228 HP:0000598 denotes ear anomalies
HP:0000404 246-254 HP:0000404 denotes Deafness
HP:0011380 304-340 HP:0011380 denotes Anomalies of the semicircular canals
HP:0011453 304-354 HP:0011453 denotes Anomalies of the semicircular canals and the incus
HP:0005473 360-382 HP:0005473 denotes inculomalleolar fusion
HP:0002574 458-484 HP:0002574 denotes episodes of abdominal pain
HP:0000969 537-542 HP:0000969 denotes edema
HP:0001256 706-730 HP:0001256 denotes mildly mentally retarded
HP:0001509 783-796 HP:0001509 denotes short stature
HP:0001545 815-834 HP:0001545 denotes antepositioned anus
HP:0009944 836-853 HP:0009944 denotes bifid right thumb
HP:0010511 855-865 HP:0010511 denotes large toes
HP:0000369 867-879 HP:0000369 denotes low set ears
HP:0000308 881-898 HP:0000308 denotes microretrognathia
HP:0000404 903-911 HP:0000404 denotes deafness
T1 91-109 HP:0000006 denotes dominant inherited
T2 173-189 HP:0002023 denotes imperforate anus
T3 191-210 HP:0001199 denotes Triphalangeal thumb
T4 215-228 HP:0000598 denotes ear anomalies
T5 246-254 HP:0000404 denotes Deafness
T6 304-340 HP:0011380 denotes Anomalies of the semicircular canals
T7 304-354 HP:0011453 denotes Anomalies of the semicircular canals and the incus
T8 360-382 HP:0005473 denotes inculomalleolar fusion
T9 458-484 HP:0002574 denotes episodes of abdominal pain
T10 537-542 HP:0000969 denotes edema
T11 706-730 HP:0001256 denotes mildly mentally retarded
T12 783-796 HP:0001509 denotes short stature
T13 815-834 HP:0001545 denotes antepositioned anus
T14 836-853 HP:0009944 denotes bifid right thumb
T15 855-865 HP:0010511 denotes large toes
T16 867-879 HP:0000369 denotes low set ears
T17 881-898 HP:0000308 denotes microretrognathia
T18 903-911 HP:0000404 denotes deafness
T1 91-109 HP:0000006 denotes dominant inherited
T2 173-189 HP:0002023 denotes imperforate anus
T3 191-210 HP:0001199 denotes Triphalangeal thumb
T4 215-228 HP:0000598 denotes ear anomalies
T5 246-254 HP:0000404 denotes Deafness
T6 304-340 HP:0011380 denotes Anomalies of the semicircular canals
T7 304-354 HP:0011453 denotes Anomalies of the semicircular canals and the incus
T8 360-382 HP:0005473 denotes inculomalleolar fusion
T9 458-484 HP:0002574 denotes episodes of abdominal pain
T10 537-542 HP:0000969 denotes edema
T11 706-730 HP:0001256 denotes mildly mentally retarded
T12 783-796 HP:0001509 denotes short stature
T13 815-834 HP:0001545 denotes antepositioned anus
T14 836-853 HP:0009944 denotes bifid right thumb
T15 855-865 HP:0010511 denotes large toes
T16 867-879 HP:0000369 denotes low set ears
T17 881-898 HP:0000308 denotes microretrognathia
T18 903-911 HP:0000404 denotes deafness
T1 91-109 HP:0000006 denotes dominant inherited
T2 173-189 HP:0002023 denotes imperforate anus
T3 191-210 HP:0001199 denotes Triphalangeal thumb
T4 215-228 HP:0000598 denotes ear anomalies
T5 246-254 HP:0000404 denotes Deafness
T6 304-340 HP:0011380 denotes Anomalies of the semicircular canals
T7 304-354 HP:0011453 denotes Anomalies of the semicircular canals and the incus
T8 360-382 HP:0005473 denotes inculomalleolar fusion
T9 458-484 HP:0002574 denotes episodes of abdominal pain
T10 537-542 HP:0000969 denotes edema
T11 706-730 HP:0001256 denotes mildly mentally retarded
T12 783-796 HP:0001509 denotes short stature
T13 815-834 HP:0001545 denotes antepositioned anus
T14 836-853 HP:0009944 denotes bifid right thumb
T15 855-865 HP:0010511 denotes large toes
T16 867-879 HP:0000369 denotes low set ears
T17 881-898 HP:0000308 denotes microretrognathia
T18 903-911 HP:0000404 denotes deafness

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 191-210 HP:0001199 denotes Triphalangeal thumb
AB2 470-484 HP:0002027 denotes abdominal pain
AB3 537-542 HP:0000969 denotes edema
AB4 783-796 HP:0004322 denotes short stature
AB5 867-879 HP:0000369 denotes low set ears
AB6 881-898 HP:0000308 denotes microretrognathia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 37-59 ORDO:857 denotes Townes-Brocks syndrome
TI1 13-35 ORDO:857 denotes Townes-Brocks syndrome
AB2 141-144 ORDO:857 denotes TBS
AB3 512-542 ORDO:91378 denotes hereditary angioneurotic edema
AB4 966-969 ORDO:857 denotes TBS
AB5 1143-1146 ORDO:857 denotes TBS

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 185-189 http://purl.obolibrary.org/obo/UBERON_0001245 denotes anus
PD-UBERON-AE-B_T2 830-834 http://purl.obolibrary.org/obo/UBERON_0001245 denotes anus
PD-UBERON-AE-B_T3 215-218 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T4 875-879 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ears
PD-UBERON-AE-B_T5 321-340 http://purl.obolibrary.org/obo/UBERON_0001840 denotes semicircular canals

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-36 Sentence denotes Two cases of Townes-Brocks syndrome.
TextSentencer_T2 37-119 Sentence denotes Townes-Brocks syndrome (TBS) has been recognized as a dominant inherited syndrome.
TextSentencer_T3 120-145 Sentence denotes We report 2 cases of TBS.
TextSentencer_T4 146-190 Sentence denotes Case 1 was operated on for imperforate anus.
TextSentencer_T5 191-245 Sentence denotes Triphalangeal thumb and ear anomalies were remarkable.
TextSentencer_T6 246-303 Sentence denotes Deafness was diagnosed when the patient was 6 months old.
TextSentencer_T7 304-429 Sentence denotes Anomalies of the semicircular canals and the incus with inculomalleolar fusion were shown when the patient was 3.5 years old.
TextSentencer_T8 430-494 Sentence denotes During childhood, recurrent episodes of abdominal pain appeared.
TextSentencer_T9 495-559 Sentence denotes The diagnosis of hereditary angioneurotic edema (HANE) was made.
TextSentencer_T10 560-663 Sentence denotes HANE was familial as the father, the father's brother and the paternal grand mother were also affected.
TextSentencer_T11 664-731 Sentence denotes The parents of case 2, a female, are both mildly mentally retarded.
TextSentencer_T12 732-797 Sentence denotes This was the first pregnancy of the mother who had short stature.
TextSentencer_T13 798-912 Sentence denotes The child had an antepositioned anus, bifid right thumb, large toes, low set ears, microretrognathia and deafness.
TextSentencer_T14 913-970 Sentence denotes A (5, 16) translocation was observed in a child with TBS.
TextSentencer_T15 971-1147 Sentence denotes At the breakpoint in 16q21.1, a gene coding for a transcription factor SALL1 has been identified and it was shown that mutations in the putative zinc finger of SALL1 cause TBS.
T1 0-36 Sentence denotes Two cases of Townes-Brocks syndrome.
T2 37-119 Sentence denotes Townes-Brocks syndrome (TBS) has been recognized as a dominant inherited syndrome.
T3 120-145 Sentence denotes We report 2 cases of TBS.
T4 146-190 Sentence denotes Case 1 was operated on for imperforate anus.
T5 191-245 Sentence denotes Triphalangeal thumb and ear anomalies were remarkable.
T6 246-303 Sentence denotes Deafness was diagnosed when the patient was 6 months old.
T7 304-429 Sentence denotes Anomalies of the semicircular canals and the incus with inculomalleolar fusion were shown when the patient was 3.5 years old.
T8 430-494 Sentence denotes During childhood, recurrent episodes of abdominal pain appeared.
T9 495-559 Sentence denotes The diagnosis of hereditary angioneurotic edema (HANE) was made.
T10 560-663 Sentence denotes HANE was familial as the father, the father's brother and the paternal grand mother were also affected.
T11 664-731 Sentence denotes The parents of case 2, a female, are both mildly mentally retarded.
T12 732-797 Sentence denotes This was the first pregnancy of the mother who had short stature.
T13 798-912 Sentence denotes The child had an antepositioned anus, bifid right thumb, large toes, low set ears, microretrognathia and deafness.
T14 913-970 Sentence denotes A (5, 16) translocation was observed in a child with TBS.
T15 971-1147 Sentence denotes At the breakpoint in 16q21.1, a gene coding for a transcription factor SALL1 has been identified and it was shown that mutations in the putative zinc finger of SALL1 cause TBS.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 185-189 http://purl.obolibrary.org/obo/UBERON_0001245 denotes anus
PD-UBERON-AE-B_T2 830-834 http://purl.obolibrary.org/obo/UBERON_0001245 denotes anus
PD-UBERON-AE-B_T3 215-218 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T4 875-879 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ears
PD-UBERON-AE-B_T5 321-340 http://purl.obolibrary.org/obo/UBERON_0001840 denotes semicircular canals

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1042-1047 gene:6299 denotes SALL1
T1 1143-1146 disease:C0265246 denotes TBS
T2 1131-1136 gene:6299 denotes SALL1
T3 1143-1146 disease:C0265246 denotes TBS
R1 T0 T1 associated_with SALL1,TBS
R2 T2 T3 associated_with SALL1,TBS