ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor 		0.700 FusionGene disease ORPHANET The histological findings and the expression of TPM3-ALK fusion gene confirmed a diagnosis of an inflammatory myofibroblastic tumor. 17063337 2007
CUI: C1333294
Disease: ALK positive large B-cell lymphoma
ALK positive large B-cell lymphoma 		0.360 FusionGene disease ORPHANET
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.350 FusionGene disease ORPHANET No ALK translocations were identified in 36 PTCs with distant metastases, 28 poorly differentiated (insular) carcinomas, and 20 anaplastic carcinomas. 25501013 2015
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.350 FusionGene disease ORPHANET Identification of oncogenic mutations and gene fusions in the follicular variant of papillary thyroid carcinoma. 25148236 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 CausalMutation disease CGI
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 CausalMutation disease CGI
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor 		0.700 CausalMutation disease CGI
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.610 CausalMutation group CGI
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.600 CausalMutation disease CGI
CUI: C0206180
Disease: Ki-1+ Anaplastic Large Cell Lymphoma
Ki-1+ Anaplastic Large Cell Lymphoma 		0.600 CausalMutation disease CGI
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.600 CausalMutation disease CLINVAR
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.500 CausalMutation disease CLINVAR Anaplastic lymphoma kinase aberrations in rhabdomyosarcoma: clinical and prognostic implications. 22184391 2012
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.500 CausalMutation disease CGI
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		0.500 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.390 CausalMutation disease CGI
CUI: C0017638
Disease: Glioma
Glioma 		0.320 CausalMutation disease CGI
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.300 CausalMutation disease CGI
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking. 21242967 2011
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Identification of ALK as a major familial neuroblastoma predisposition gene. 18724359 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR CH5424802, a selective ALK inhibitor capable of blocking the resistant gatekeeper mutant. 21575866 2011
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. 18990089 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Differential inhibitor sensitivity of anaplastic lymphoma kinase variants found in neuroblastoma. 22072639 2011
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Activating mutations in ALK provide a therapeutic target in neuroblastoma. 18923525 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR ALK mutations conferring differential resistance to structurally diverse ALK inhibitors. 21948233 2011