Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE A unique point mutation, serine 505 to asparagine 505 (Ser505Asn), was identified in the transmembrane domain of the c-MPL gene in all of the 8 members with thrombocythemia, but in none of the other 8 unaffected members in this FET family. 14764528 2004