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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-183 Sentence denotes A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
TextSentencer_T2 184-206 Sentence denotes Mutations in brief no.
TextSentencer_T3 207-211 Sentence denotes 117.
TextSentencer_T4 212-219 Sentence denotes Online.
TextSentencer_T5 220-414 Sentence denotes Congenital lipoid adrenal hyperplasia (CLAH) is an autosomalrecessive disorder characterized by impaired production of all steroids including glucocorticoids, mineralocorticoids and sexsteriods.
TextSentencer_T6 415-529 Sentence denotes It has recently been reported that mutations in the steriodogenic acute regulatory protein (StAR) gene cause CLAH.
TextSentencer_T7 530-588 Sentence denotes We analyzed the StAR gene in a Japanese patient with CLAH.
TextSentencer_T8 589-939 Sentence denotes The patient was revealed to be a compound heterozygote bearing a nonsense mutation Q258X, changing codon 258 (CAG) encoding Gln to the stop codon TAG, and a novel framshift mutation 840delA resulting from deletion of one of the three adenosines normally present in codon 238 (AAA), thus leading to a frameshift after codon 237 (Thr) in the StAR gene.
TextSentencer_T9 940-1105 Sentence denotes The patient was also revealed to be homozygous for a novel missense point mutation D203A, changing codon 203 (GAC) encoding Asp to GCC encoding Ala in the StAR gene.
TextSentencer_T10 1106-1351 Sentence denotes To elucidate the significance of the D203A mutation, we analyzed the StAR gene sequence in twenty normal subjects, and found that all of them were homozygous for the D203A mutation, indicating that the D203A mutation is an innocent polymorphism.
TextSentencer_T11 1352-1507 Sentence denotes In conclusion, we have identified a novel frameshift mutation 840delA which seems to cause 840delA and the first polymorphism D203A in the human StAR gene.
T1 0-183 Sentence denotes A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
T2 184-206 Sentence denotes Mutations in brief no.
T3 207-211 Sentence denotes 117.
T4 212-219 Sentence denotes Online.
T5 220-414 Sentence denotes Congenital lipoid adrenal hyperplasia (CLAH) is an autosomalrecessive disorder characterized by impaired production of all steroids including glucocorticoids, mineralocorticoids and sexsteriods.
T6 415-529 Sentence denotes It has recently been reported that mutations in the steriodogenic acute regulatory protein (StAR) gene cause CLAH.
T7 530-588 Sentence denotes We analyzed the StAR gene in a Japanese patient with CLAH.
T8 589-939 Sentence denotes The patient was revealed to be a compound heterozygote bearing a nonsense mutation Q258X, changing codon 258 (CAG) encoding Gln to the stop codon TAG, and a novel framshift mutation 840delA resulting from deletion of one of the three adenosines normally present in codon 238 (AAA), thus leading to a frameshift after codon 237 (Thr) in the StAR gene.
T9 940-1105 Sentence denotes The patient was also revealed to be homozygous for a novel missense point mutation D203A, changing codon 203 (GAC) encoding Asp to GCC encoding Ala in the StAR gene.
T10 1106-1351 Sentence denotes To elucidate the significance of the D203A mutation, we analyzed the StAR gene sequence in twenty normal subjects, and found that all of them were homozygous for the D203A mutation, indicating that the D203A mutation is an innocent polymorphism.
T11 1352-1507 Sentence denotes In conclusion, we have identified a novel frameshift mutation 840delA which seems to cause 840delA and the first polymorphism D203A in the human StAR gene.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10215405-0#61#66#geners1042854 61-66 geners1042854 denotes D203A
10215405-0#163#182#diseaseC0001627 163-182 diseaseC0001627 denotes adrenal hyperplasia
10215405-0#163#182#diseaseC0342492 163-182 diseaseC0342492 denotes adrenal hyperplasia
10215405-0#163#182#diseaseC1621895 163-182 diseaseC1621895 denotes adrenal hyperplasia
61#66#geners1042854163#182#diseaseC0001627 10215405-0#61#66#geners1042854 10215405-0#163#182#diseaseC0001627 associated_with D203A,adrenal hyperplasia
61#66#geners1042854163#182#diseaseC0342492 10215405-0#61#66#geners1042854 10215405-0#163#182#diseaseC0342492 associated_with D203A,adrenal hyperplasia
61#66#geners1042854163#182#diseaseC1621895 10215405-0#61#66#geners1042854 10215405-0#163#182#diseaseC1621895 associated_with D203A,adrenal hyperplasia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10215405-0#74#112#gene6770 74-112 gene6770 denotes steroidogenic acute regulatory protein
10215405-0#163#182#diseaseC0001627 163-182 diseaseC0001627 denotes adrenal hyperplasia
10215405-0#163#182#diseaseC0342492 163-182 diseaseC0342492 denotes adrenal hyperplasia
10215405-0#163#182#diseaseC1621895 163-182 diseaseC1621895 denotes adrenal hyperplasia
74#112#gene6770163#182#diseaseC0001627 10215405-0#74#112#gene6770 10215405-0#163#182#diseaseC0001627 associated_with steroidogenic acute regulatory protein,adrenal hyperplasia
74#112#gene6770163#182#diseaseC0342492 10215405-0#74#112#gene6770 10215405-0#163#182#diseaseC0342492 associated_with steroidogenic acute regulatory protein,adrenal hyperplasia
74#112#gene6770163#182#diseaseC1621895 10215405-0#74#112#gene6770 10215405-0#163#182#diseaseC1621895 associated_with steroidogenic acute regulatory protein,adrenal hyperplasia

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 238-257 HP:0008221 denotes adrenal hyperplasia
TI1 163-182 HP:0008221 denotes adrenal hyperplasia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 1064-1067 ORDO:63442 denotes Asp

DisGeNET

Id Subject Object Predicate Lexical cue
T0 74-112 gene:6770 denotes steroidogenic acute regulatory protein
T1 163-182 disease:C0001627 denotes adrenal hyperplasia
T2 74-112 gene:6770 denotes steroidogenic acute regulatory protein
T3 163-182 disease:C0342492 denotes adrenal hyperplasia
T4 74-112 gene:6770 denotes steroidogenic acute regulatory protein
T5 163-182 disease:C1621895 denotes adrenal hyperplasia
R1 T0 T1 associated_with steroidogenic acute regulatory protein,adrenal hyperplasia
R2 T2 T3 associated_with steroidogenic acute regulatory protein,adrenal hyperplasia
R3 T4 T5 associated_with steroidogenic acute regulatory protein,adrenal hyperplasia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 238-257 HP_0008221 denotes adrenal hyperplasia