PTK2, protein tyrosine kinase 2, 5747

N. diseases: 205; N. variants: 21
Disease: Cerebellar Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.010 AlteredExpression disease BEFREE A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. 23749989 2013