Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Splenic Hypoplasia
CUI: C0685889
Disease: Splenic Hypoplasia
0.800 GeneticVariation UNIPROT Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. 23579497 2013
Splenic Hypoplasia
CUI: C0685889
Disease: Splenic Hypoplasia
0.800 CausalMutation CLINVAR