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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
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 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 Oncogenic mutations of ALK kinase in neuroblastoma. 18923524 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 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 Biomarker disease CLINGEN Germline gain-of-function mutations of ALK disrupt central nervous system development. 21972109 2011
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 Biomarker disease GENOMICS_ENGLAND Our results demonstrate that heritable mutations of ALK are the main cause of familial neuroblastoma, and that germline or acquired activation of this cell-surface kinase is a tractable therapeutic target for this lethal paediatric malignancy. 18724359 2008
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		0.400 Biomarker disease GENOMICS_ENGLAND
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 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 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: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 Biomarker disease PSYGENET In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p<2 × 10(-5)) in the meta-analysis. 21703634 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET These results suggest that genetic variations of the ALK gene might confer susceptibility to schizophrenia. 16604305 2006
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.300 Biomarker disease PSYGENET Altogether, these results suggest that ALK functions in the adult brain to regulate the function of the frontal cortex and hippocampus and identifies ALK as a new target for psychiatric indications, such as schizophrenia and depression, with an underlying deregulated monoaminergic signalling. 17487225 2008
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.300 Biomarker disease PSYGENET Altogether, these results suggest that ALK functions in the adult brain to regulate the function of the frontal cortex and hippocampus and identifies ALK as a new target for psychiatric indications, such as schizophrenia and depression, with an underlying deregulated monoaminergic signalling. 17487225 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 SomaticCausalMutation disease ORPHANET Germline mutations were observed in two neuroblastoma families, indicating that ALK is a neuroblastoma predisposition gene. 18923523 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 SusceptibilityMutation disease ORPHANET Germline mutations were observed in two neuroblastoma families, indicating that ALK is a neuroblastoma predisposition gene. 18923523 2008
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: C1332079
Disease: Anaplastic Large Cell Lymphoma, ALK-Positive
Anaplastic Large Cell Lymphoma, ALK-Positive 		0.400 SomaticCausalMutation disease ORPHANET Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. 12112524 2002
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