CDC42, cell division cycle 42, 998

N. diseases: 327; N. variants: 16
Disease: Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 GeneticVariation phenotype BEFREE The present observation provides further evidence supporting the notion that a mutation in CDC42 causes a recognizable syndromic form of thrombocytopenia. 26708094 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 GeneticVariation phenotype BEFREE Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 CausalMutation phenotype CLINVAR