> top > projects > sonoma2 > docs > PubMed:31825161 > annotations
sonoma2  

PubMed:31825161 JSONTXT 2 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T0 28-36 VAR denotes mutation
T1 40-46 GENE denotes VPS13B
T2 47-57 REG denotes associated
T3 97-111 DISEASE denotes Cohen syndrome
T4 113-127 DISEASE denotes Cohen syndrome
T5 129-131 DISEASE denotes CS
T6 143-171 DISEASE denotes autosomal recessive disorder
T7 172-182 REG denotes associated
T8 183-187 REG denotes with
T9 188-197 VAR denotes mutations
T10 205-242 GENE denotes vacuolar protein sorting 13 homolog B
T11 244-250 GENE denotes VPS13B
T12 261-265 GENE denotes COH1
T13 328-342 CPA denotes facial gestalt
T14 351-370 CPA denotes developmental delay
T15 351-370 DISEASE denotes developmental delay
T16 376-382 CPA denotes myopia
T17 376-382 DISEASE denotes myopia
T18 427-434 CPA denotes obesity
T19 427-434 DISEASE denotes obesity
T20 436-448 CPA denotes microcephaly
T21 436-448 DISEASE denotes microcephaly
T22 450-463 CPA denotes short stature
T23 465-483 CPA denotes muscular hypotonia
T24 465-483 DISEASE denotes muscular hypotonia
T25 485-494 CPA denotes scoliosis
T26 485-494 DISEASE denotes scoliosis
T27 496-508 CPA denotes narrow hands
T28 519-542 CPA denotes progressive retinopathy
T29 531-542 DISEASE denotes retinopathy
T30 555-566 CPA denotes neutropenia
T31 555-566 DISEASE denotes neutropenia
T32 611-619 VAR denotes mutation
T33 627-633 GENE denotes VPS13B
T34 712-731 CPA denotes developmental delay
T35 712-731 DISEASE denotes developmental delay
T36 733-756 CPA denotes intellectual disability
T37 733-756 DISEASE denotes intellectual disability
T38 775-792 CPA denotes facial appearance
T39 806-812 REG denotes showed
T40 846-848 DISEASE denotes CS
T41 875-883 REG denotes observed
T42 884-903 CPA denotes congenital alacrima
T43 884-903 DISEASE denotes congenital alacrima
T44 908-918 DISEASE denotes anhidrosis
T45 919-929 REG denotes persisting
T46 945-952 CPA denotes puberty
T47 1062-1072 REG denotes identified
T48 1092-1115 VAR denotes nonsense mutation c.62T
T49 1119-1130 VAR denotes NM_152564.4
T50 1151-1157 GENE denotes VPS13B
T51 1223-1225 DISEASE denotes CS
T52 1255-1275 CPA denotes prepubertal alacrima
T53 1267-1275 DISEASE denotes alacrima
T54 1280-1290 CPA denotes anhidrosis
T55 1280-1290 DISEASE denotes anhidrosis
T56 1295-1299 REG denotes part
T57 1330-1332 DISEASE denotes CS
T58 1333-1343 REG denotes associated
T59 1344-1348 REG denotes with
T60 1377-1385 VAR denotes mutation
T61 1393-1399 GENE denotes VPS13B
R0 T0 T2 CauseOf mutation,associated
R1 T1 T0 ThemeOf VPS13B,mutation
R10 T11 T9 ThemeOf VPS13B,mutations
R11 T12 T9 ThemeOf COH1,mutations
R12 T33 T32 ThemeOf VPS13B,mutation
R13 T40 T39 ThemeOf CS,showed
R14 T45 T41 ThemeOf persisting,observed
R15 T42 T41 ThemeOf congenital alacrima,observed
R16 T42 T45 ThemeOf congenital alacrima,persisting
R17 T46 T41 ThemeOf puberty,observed
R18 T46 T45 ThemeOf puberty,persisting
R19 T49 T48 ThemeOf NM_152564.4,nonsense mutation c.62T
R2 T1 T2 ThemeOf VPS13B,associated
R20 T50 T47 ThemeOf VPS13B,identified
R21 T50 T48 ThemeOf VPS13B,nonsense mutation c.62T
R22 T50 T49 ThemeOf VPS13B,NM_152564.4
R23 T52 T56 ThemeOf prepubertal alacrima,part
R24 T52 T58 ThemeOf prepubertal alacrima,associated
R25 T54 T56 ThemeOf anhidrosis,part
R26 T54 T58 ThemeOf anhidrosis,associated
R27 T57 T56 ThemeOf CS,part
R28 T57 T58 ThemeOf CS,associated
R29 T57 T59 ThemeOf CS,with
R3 T3 T2 ThemeOf Cohen syndrome,associated
R30 T60 T56 CauseOf mutation,part
R31 T60 T58 CauseOf mutation,associated
R32 T60 T59 CauseOf mutation,with
R33 T61 T60 ThemeOf VPS13B,mutation
R4 T4 T7 ThemeOf Cohen syndrome,associated
R5 T4 T8 ThemeOf Cohen syndrome,with
R6 T5 T7 ThemeOf CS,associated
R7 T9 T7 CauseOf mutations,associated
R8 T9 T8 CauseOf mutations,with
R9 T10 T9 ThemeOf vacuolar protein sorting 13 homolog B,mutations