ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Disease: Congenital neuroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024986
Disease: Congenital neuroblastoma
Congenital neuroblastoma 		0.010 GeneticVariation disease BEFREE A syndromic presentation associating congenital neuroblastoma with severe encephalopathy and an abnormal shape of the brainstem has been described in patients harbouring de novo germline F1174V and F1245V ALK mutations. 24811761 2014