Disease: Pancytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 GeneticVariation disease BEFREE Germline mutations in SAMD9 and SAMD9L genes cause MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) (OMIM: *610456) and ataxia-pancytopenia (OMIM: *611170) syndromes, respectively, and are associated with chromosome 7 deletions, myelodysplastic syndrome (MDS), and bone marrow failure. 31306780 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 GeneticVariation disease BEFREE By targeted sequencing of SAMD9L, we subsequently identified a different missense mutation (c.3587G>C, p.Cys1196Ser) in affected members of the first described family with AP syndrome, Li-AP. 27259050 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 Biomarker disease HPO