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PubMed:17250663 JSON TXT

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DisGeNET

Id	Subject	Object	Predicate	Lexical cue
T0	24-30	gene:117531	denotes	DFNA36
T1	31-43	disease:C0155552	denotes	hearing loss
T2	924-928	gene:117531	denotes	TMC1
T3	968-980	disease:C0155552	denotes	hearing loss
T4	961-967	gene:117531	denotes	DFNA36
T5	968-980	disease:C0155552	denotes	hearing loss
T6	1140-1144	gene:117531	denotes	TMC1
T7	1008-1020	disease:C0155552	denotes	hearing loss
R1	T0	T1	associated_with	DFNA36,hearing loss
R2	T2	T3	associated_with	TMC1,hearing loss
R3	T4	T5	associated_with	DFNA36,hearing loss
R4	T6	T7	associated_with	TMC1,hearing loss

PubmedHPO

Id	Subject	Object	Predicate	Lexical cue
T1	221-239	HP_0000006	denotes	autosomal dominant
T2	270-308	HP_0000408	denotes	progressive sensorineural hearing loss
T3	282-308	HP_0000407	denotes	sensorineural hearing loss
T4	296-308	HP_0000365	denotes	hearing loss
T5	314-326	HP_0000365	denotes	hearing loss
T6	429-437	HP_0000365	denotes	deafness
T7	968-980	HP_0000365	denotes	hearing loss
T8	993-1020	HP_0001730	denotes	progression of hearing loss
T9	1008-1020	HP_0000365	denotes	hearing loss

DisGeNET5_variant_disease

Id	Subject	Object	Predicate	Lexical cue
17250663-8#98#105#geners121908072	1080-1087	geners121908072	denotes	p.D572N
17250663-8#136#142#diseaseC1847626	1118-1124	diseaseC1847626	denotes	DFNA36
98#105#geners121908072136#142#diseaseC1847626	17250663-8#98#105#geners121908072	17250663-8#136#142#diseaseC1847626	associated_with	p.D572N,DFNA36

DisGeNET5_gene_disease

Id	Subject	Object	Predicate	Lexical cue
17250663-8#158#162#gene117531	1140-1144	gene117531	denotes	TMC1
17250663-8#136#142#diseaseC1847626	1118-1124	diseaseC1847626	denotes	DFNA36
158#162#gene117531136#142#diseaseC1847626	17250663-8#158#162#gene117531	17250663-8#136#142#diseaseC1847626	associated_with	TMC1,DFNA36

tmVarCorpus

Id	Subject	Object	Predicate	Lexical cue
T1	678-685	ProteinMutation:p\|SUB\|D\|572\|H	denotes	p.D572H
T2	687-695	DNAMutation:c\|SUB\|G\|1714\|C	denotes	c.G1714C
T3	824-831	ProteinMutation:p\|SUB\|D\|572\|N	denotes	p.D572N
T4	833-841	DNAMutation:c\|SUB\|G\|1714\|A	denotes	c.G1714A
T5	1037-1044	ProteinMutation:p\|SUB\|D\|572\|H	denotes	p.D572H
T6	1080-1087	ProteinMutation:p\|SUB\|D\|572\|N	denotes	p.D572N