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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10220154-6#102#107#geners111033781 915-920 geners111033781 denotes F294Y
10220154-6#183#188#geners111033795 996-1001 geners111033795 denotes A320T
10220154-6#176#181#geners111033773 989-994 geners111033773 denotes K285N
10220154-6#207#212#geners111033806 1020-1025 geners111033806 denotes E340X
10220154-6#39#51#diseaseC0016952 852-864 diseaseC0016952 denotes galactosemia
10220154-6#39#51#diseaseC0268151 852-864 diseaseC0268151 denotes galactosemia
10220154-6#251#263#diseaseC0016952 1064-1076 diseaseC0016952 denotes galactosemia
10220154-6#251#263#diseaseC0268151 1064-1076 diseaseC0268151 denotes galactosemia
10220154-6#39#51#diseaseC0016952 852-864 diseaseC0016952 denotes galactosemia
10220154-6#39#51#diseaseC0268151 852-864 diseaseC0268151 denotes galactosemia
10220154-6#39#51#diseaseC0016952 852-864 diseaseC0016952 denotes galactosemia
10220154-6#39#51#diseaseC0268151 852-864 diseaseC0268151 denotes galactosemia
10220154-6#251#263#diseaseC0016952 1064-1076 diseaseC0016952 denotes galactosemia
10220154-6#251#263#diseaseC0268151 1064-1076 diseaseC0268151 denotes galactosemia
102#107#geners11103378139#51#diseaseC0016952 10220154-6#102#107#geners111033781 10220154-6#39#51#diseaseC0016952 associated_with F294Y,galactosemia
102#107#geners11103378139#51#diseaseC0268151 10220154-6#102#107#geners111033781 10220154-6#39#51#diseaseC0268151 associated_with F294Y,galactosemia
102#107#geners111033781251#263#diseaseC0016952 10220154-6#102#107#geners111033781 10220154-6#251#263#diseaseC0016952 associated_with F294Y,galactosemia
102#107#geners111033781251#263#diseaseC0268151 10220154-6#102#107#geners111033781 10220154-6#251#263#diseaseC0268151 associated_with F294Y,galactosemia
102#107#geners11103378139#51#diseaseC0016952 10220154-6#102#107#geners111033781 10220154-6#39#51#diseaseC0016952 associated_with F294Y,galactosemia
102#107#geners11103378139#51#diseaseC0268151 10220154-6#102#107#geners111033781 10220154-6#39#51#diseaseC0268151 associated_with F294Y,galactosemia
102#107#geners11103378139#51#diseaseC0016952 10220154-6#102#107#geners111033781 10220154-6#39#51#diseaseC0016952 associated_with F294Y,galactosemia
102#107#geners11103378139#51#diseaseC0268151 10220154-6#102#107#geners111033781 10220154-6#39#51#diseaseC0268151 associated_with F294Y,galactosemia
102#107#geners111033781251#263#diseaseC0016952 10220154-6#102#107#geners111033781 10220154-6#251#263#diseaseC0016952 associated_with F294Y,galactosemia
102#107#geners111033781251#263#diseaseC0268151 10220154-6#102#107#geners111033781 10220154-6#251#263#diseaseC0268151 associated_with F294Y,galactosemia
183#188#geners11103379539#51#diseaseC0016952 10220154-6#183#188#geners111033795 10220154-6#39#51#diseaseC0016952 associated_with A320T,galactosemia
183#188#geners11103379539#51#diseaseC0268151 10220154-6#183#188#geners111033795 10220154-6#39#51#diseaseC0268151 associated_with A320T,galactosemia
183#188#geners111033795251#263#diseaseC0016952 10220154-6#183#188#geners111033795 10220154-6#251#263#diseaseC0016952 associated_with A320T,galactosemia
183#188#geners111033795251#263#diseaseC0268151 10220154-6#183#188#geners111033795 10220154-6#251#263#diseaseC0268151 associated_with A320T,galactosemia
183#188#geners11103379539#51#diseaseC0016952 10220154-6#183#188#geners111033795 10220154-6#39#51#diseaseC0016952 associated_with A320T,galactosemia
183#188#geners11103379539#51#diseaseC0268151 10220154-6#183#188#geners111033795 10220154-6#39#51#diseaseC0268151 associated_with A320T,galactosemia
183#188#geners11103379539#51#diseaseC0016952 10220154-6#183#188#geners111033795 10220154-6#39#51#diseaseC0016952 associated_with A320T,galactosemia
183#188#geners11103379539#51#diseaseC0268151 10220154-6#183#188#geners111033795 10220154-6#39#51#diseaseC0268151 associated_with A320T,galactosemia
183#188#geners111033795251#263#diseaseC0016952 10220154-6#183#188#geners111033795 10220154-6#251#263#diseaseC0016952 associated_with A320T,galactosemia
183#188#geners111033795251#263#diseaseC0268151 10220154-6#183#188#geners111033795 10220154-6#251#263#diseaseC0268151 associated_with A320T,galactosemia
176#181#geners11103377339#51#diseaseC0016952 10220154-6#176#181#geners111033773 10220154-6#39#51#diseaseC0016952 associated_with K285N,galactosemia
176#181#geners11103377339#51#diseaseC0268151 10220154-6#176#181#geners111033773 10220154-6#39#51#diseaseC0268151 associated_with K285N,galactosemia
176#181#geners111033773251#263#diseaseC0016952 10220154-6#176#181#geners111033773 10220154-6#251#263#diseaseC0016952 associated_with K285N,galactosemia
176#181#geners111033773251#263#diseaseC0268151 10220154-6#176#181#geners111033773 10220154-6#251#263#diseaseC0268151 associated_with K285N,galactosemia
176#181#geners11103377339#51#diseaseC0016952 10220154-6#176#181#geners111033773 10220154-6#39#51#diseaseC0016952 associated_with K285N,galactosemia
176#181#geners11103377339#51#diseaseC0268151 10220154-6#176#181#geners111033773 10220154-6#39#51#diseaseC0268151 associated_with K285N,galactosemia
176#181#geners11103377339#51#diseaseC0016952 10220154-6#176#181#geners111033773 10220154-6#39#51#diseaseC0016952 associated_with K285N,galactosemia
176#181#geners11103377339#51#diseaseC0268151 10220154-6#176#181#geners111033773 10220154-6#39#51#diseaseC0268151 associated_with K285N,galactosemia
176#181#geners111033773251#263#diseaseC0016952 10220154-6#176#181#geners111033773 10220154-6#251#263#diseaseC0016952 associated_with K285N,galactosemia
176#181#geners111033773251#263#diseaseC0268151 10220154-6#176#181#geners111033773 10220154-6#251#263#diseaseC0268151 associated_with K285N,galactosemia
207#212#geners11103380639#51#diseaseC0016952 10220154-6#207#212#geners111033806 10220154-6#39#51#diseaseC0016952 associated_with E340X,galactosemia
207#212#geners11103380639#51#diseaseC0268151 10220154-6#207#212#geners111033806 10220154-6#39#51#diseaseC0268151 associated_with E340X,galactosemia
207#212#geners111033806251#263#diseaseC0016952 10220154-6#207#212#geners111033806 10220154-6#251#263#diseaseC0016952 associated_with E340X,galactosemia
207#212#geners111033806251#263#diseaseC0268151 10220154-6#207#212#geners111033806 10220154-6#251#263#diseaseC0268151 associated_with E340X,galactosemia
207#212#geners11103380639#51#diseaseC0016952 10220154-6#207#212#geners111033806 10220154-6#39#51#diseaseC0016952 associated_with E340X,galactosemia
207#212#geners11103380639#51#diseaseC0268151 10220154-6#207#212#geners111033806 10220154-6#39#51#diseaseC0268151 associated_with E340X,galactosemia
207#212#geners11103380639#51#diseaseC0016952 10220154-6#207#212#geners111033806 10220154-6#39#51#diseaseC0016952 associated_with E340X,galactosemia
207#212#geners11103380639#51#diseaseC0268151 10220154-6#207#212#geners111033806 10220154-6#39#51#diseaseC0268151 associated_with E340X,galactosemia
207#212#geners111033806251#263#diseaseC0016952 10220154-6#207#212#geners111033806 10220154-6#251#263#diseaseC0016952 associated_with E340X,galactosemia
207#212#geners111033806251#263#diseaseC0268151 10220154-6#207#212#geners111033806 10220154-6#251#263#diseaseC0268151 associated_with E340X,galactosemia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10220154-0#76#80#gene2592 76-80 gene2592 denotes GALT
10220154-0#115#127#diseaseC0016952 115-127 diseaseC0016952 denotes galactosemia
10220154-0#115#127#diseaseC0268151 115-127 diseaseC0268151 denotes galactosemia
76#80#gene2592115#127#diseaseC0016952 10220154-0#76#80#gene2592 10220154-0#115#127#diseaseC0016952 associated_with GALT,galactosemia
76#80#gene2592115#127#diseaseC0268151 10220154-0#76#80#gene2592 10220154-0#115#127#diseaseC0268151 associated_with GALT,galactosemia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 76-80 gene:2592 denotes GALT
T1 115-127 disease:C0016952 denotes galactosemia
T2 76-80 gene:2592 denotes GALT
T3 115-127 disease:C0268151 denotes galactosemia
R1 T0 T1 associated_with GALT,galactosemia
R2 T2 T3 associated_with GALT,galactosemia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 300-326 HP_0000007 denotes severe autosomal recessive
T2 307-326 HP_0000007 denotes autosomal recessive