ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281864720
rs281864720
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2751681
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs281864720
rs281864720
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2751681
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs863225281
rs863225281
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2751681
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs863225281
rs863225281
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2751681
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs863225281
rs863225281
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2751681
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs1406230
rs1406230
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity. 31264924 2019
dbSNP: rs1406230
rs1406230
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0339471
Disease:
Maculopathy with diabetes mellitus 		0.700 GeneticVariation GWASCAT A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity. 31264924 2019
dbSNP: rs187926838
rs187926838
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C1869024
Disease:
Severe cutaneous adverse reactions (SMQ) 		G 0.700 GeneticVariation GWASCAT Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions. 31066027 2019
dbSNP: rs187926838
rs187926838
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2004491
Disease:
Cicatrix 		G 0.700 GeneticVariation GWASCAT Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions. 31066027 2019
dbSNP: rs187926838
rs187926838
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C3541994
Disease:
Drug Hypersensitivity Syndrome 		0.700 GeneticVariation GWASCAT Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions. 31066027 2019
dbSNP: rs6731759
rs6731759
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C1836231
Disease:
HIV-1, RESISTANCE TO 		G 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs6731759
rs6731759
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		G 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs6731759
rs6731759
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C1836233
Disease:
AIDS, PROGRESSION TO 		G 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs6731759
rs6731759
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0376705
Disease:
Viral Load result 		G 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs6731759
rs6731759
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		G 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs80270335
rs80270335
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0011334
Disease:
Dental caries 		T 0.700 GeneticVariation GWASCAT Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data. 31235808 2019
dbSNP: rs11903143
rs11903143
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2825895
Disease:
Granulocyte Colony Stimulating Factor Measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323 2017
dbSNP: rs1057519697
rs1057519697
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2749484
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO 		C 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs113994087
rs113994087
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2749484
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs113994087
rs113994087
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs113994087
rs113994087
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs113994087
rs113994087
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2749484
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO 		T 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs2339469
rs2339469
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT International Genome-Wide Association Study Consortium Identifies Novel Loci Associated With Blood Pressure in Children and Adolescents. 26969751 2016
dbSNP: rs281864719
rs281864719
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2749484
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO 		C 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs863225281
rs863225281
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C2749484
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016