Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.020 GeneticVariation group BEFREE In this retrospective series, we report outcomes of allogeneic hematopoietic cell transplantation (HCT) in patients with hematologic disorders associated with SAMD9/SAMD9L mutations. 31306780 2019
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.020 GeneticVariation group BEFREE SAMD9L mutations have been reported in a few families with balance problems and nystagmus due to cerebellar atrophy, and may lead to similar hematological disease as seen in SAMD9 mutation carriers, from early childhood to adult years. 29535429 2018