Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 Biomarker disease CLINGEN Targeted expression of mutated ALK induces neuroblastoma in transgenic mice. 22764207 2012
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 Biomarker disease CLINGEN ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. 22071890 2012
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 GeneticVariation disease UNIPROT The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking. 21242967 2011
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 Biomarker disease CLINGEN Germline gain-of-function mutations of ALK disrupt central nervous system development. 21972109 2011
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 Biomarker disease CLINGEN Identification of ALK as a major familial neuroblastoma predisposition gene. 18724359 2008
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 Biomarker disease CLINGEN Oncogenic mutations of ALK kinase in neuroblastoma. 18923524 2008
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 GeneticVariation disease UNIPROT Activating mutations in ALK provide a therapeutic target in neuroblastoma. 18923525 2008
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 Biomarker disease CLINGEN Activating mutations in ALK provide a therapeutic target in neuroblastoma. 18923525 2008
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 GeneticVariation disease UNIPROT Identification of ALK as a major familial neuroblastoma predisposition gene. 18724359 2008
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 GeneticVariation disease UNIPROT Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 18923523 2008
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 GeneticVariation disease CLINVAR
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 CausalMutation disease CLINVAR
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.600 SusceptibilityMutation disease CLINVAR