Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.020 GeneticVariation disease BEFREE Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. 25586593 2015
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.020 Biomarker disease BEFREE Mutations in the Spliceosomal Machinery Genes SRSF2, U2AF1, and ZRSR2 and Response to Decitabine in Myelodysplastic Syndrome. 25964599 2015