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Entry Name Description Category Pathway Gene
H01901 Barrett esophagus ... with BE, is represented by nitrate, an increased age, Caucasian race, male sex and hiatal hernia. Recently, it has been reported that mutations in MSR1, ASCC1, and CTHRC1 are associated with this disease. Digestive system disease MSR1 [HSA:4481] [KO:K06558]
CTHRC1 [HSA:115908] [KO:K25700]
ASCC1 [HSA:51008] [KO:K18666]
H02238 Spinal muscular atrophy with congenital bone fractures ... is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease. Both TRIP4 and ASCC1 encode subunits of the nuclear activating ... Musculoskeletal disease (SMABF1) TRIP4 [HSA:9325] [KO:K23398]
(SMABF2) ASCC1 [HSA:51008] [KO:K18666]
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