ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4833407
rs4833407
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0028754
Disease:
Obesity
0.800 GeneticVariation GWASCAT A genome-wide association meta-analysis identifies new childhood obesity loci. 22484627 2012
dbSNP: rs4833407
rs4833407
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0028754
Disease:
Obesity
0.800 GeneticVariation GWASDB A genome-wide association meta-analysis identifies new childhood obesity loci. 22484627 2012
dbSNP: rs1052954321
rs1052954321
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0854723
Disease:
Retinal Dystrophies
T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
dbSNP: rs1052954321
rs1052954321
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C4225670
Disease:
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
dbSNP: rs1052954321
rs1052954321
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C3887485
Disease:
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
dbSNP: rs1052954321
rs1052954321
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0038002
Disease:
Splenomegaly
T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
dbSNP: rs1052954321
rs1052954321
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0858613
Disease:
Optic nerve oedema
T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
dbSNP: rs17604670
rs17604670
Entrez Id: 80216;92610
Gene Symbol: ALPK1;TIFA
ALPK1;TIFA
CUI: C0003873
Disease:
Rheumatoid Arthritis
G 0.700 GeneticVariation GWASCAT Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset. 30891314 2019
dbSNP: rs4834272
rs4834272
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C1305855
Disease:
Body mass index
T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs59068084
rs59068084
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7687819
rs7687819
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0004238
Disease:
Atrial Fibrillation
A 0.700 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
dbSNP: rs4834272
rs4834272
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C1305855
Disease:
Body mass index
C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs4833407
rs4833407
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C1305855
Disease:
Body mass index
A 0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
dbSNP: rs1052954321
rs1052954321
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0015974
Disease:
Periodic fever
0.010 GeneticVariation BEFREE Sequencing analysis of 13 additional sporadic cases and 10 familial PFAPA cases identified two additional heterozygous missense variants c.1024G>C p.(D342H) and c.710C>T p.(T237M) in two sporadic patients, suggesting that rare variants in ALPK1 may represent a predisposing factor for recurrent periodic fever in a pediatric population. 31053777 2019
dbSNP: rs2074379
rs2074379
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0020557
Disease:
Hypertriglyceridemia
0.010 GeneticVariation BEFREE Longitudinal analysis with a generalized estimating equation and with adjustment for covariates revealed that rs6929846 of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with the prevalence of hypertriglyceridemia (P=0.0001), hyper-LDL cholesterolemia (P=0.0004), and CKD (P=0.0007); rs2569512 of interleukin enhancer binding factor 3 (ILF3) was associated with hyper-LDL cholesterolemia (P=0.0029); and rs2074379 (P=0.0019) and rs2074388 (P=0.0029) of alpha-kinase 1 (ALPK1) were associated with CKD. 25813695 2015
dbSNP: rs2074379
rs2074379
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C2242712
Disease:
Hyper LDL cholesterolaemia
0.010 GeneticVariation BEFREE Longitudinal analysis with a generalized estimating equation and with adjustment for covariates revealed that rs6929846 of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with the prevalence of hypertriglyceridemia (P=0.0001), hyper-LDL cholesterolemia (P=0.0004), and CKD (P=0.0007); rs2569512 of interleukin enhancer binding factor 3 (ILF3) was associated with hyper-LDL cholesterolemia (P=0.0029); and rs2074379 (P=0.0019) and rs2074388 (P=0.0029) of alpha-kinase 1 (ALPK1) were associated with CKD. 25813695 2015
dbSNP: rs2074379
rs2074379
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE Longitudinal analysis with a generalized estimating equation and with adjustment for covariates revealed that rs6929846 of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with the prevalence of hypertriglyceridemia (P=0.0001), hyper-LDL cholesterolemia (P=0.0004), and CKD (P=0.0007); rs2569512 of interleukin enhancer binding factor 3 (ILF3) was associated with hyper-LDL cholesterolemia (P=0.0029); and rs2074379 (P=0.0019) and rs2074388 (P=0.0029) of alpha-kinase 1 (ALPK1) were associated with CKD. 25813695 2015
dbSNP: rs2074388
rs2074388
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C2242712
Disease:
Hyper LDL cholesterolaemia
0.010 GeneticVariation BEFREE Longitudinal analysis with a generalized estimating equation and with adjustment for covariates revealed that rs6929846 of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with the prevalence of hypertriglyceridemia (P=0.0001), hyper-LDL cholesterolemia (P=0.0004), and CKD (P=0.0007); rs2569512 of interleukin enhancer binding factor 3 (ILF3) was associated with hyper-LDL cholesterolemia (P=0.0029); and rs2074379 (P=0.0019) and rs2074388 (P=0.0029) of alpha-kinase 1 (ALPK1) were associated with CKD. 25813695 2015
dbSNP: rs2074388
rs2074388
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0020557
Disease:
Hypertriglyceridemia
0.010 GeneticVariation BEFREE Longitudinal analysis with a generalized estimating equation and with adjustment for covariates revealed that rs6929846 of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with the prevalence of hypertriglyceridemia (P=0.0001), hyper-LDL cholesterolemia (P=0.0004), and CKD (P=0.0007); rs2569512 of interleukin enhancer binding factor 3 (ILF3) was associated with hyper-LDL cholesterolemia (P=0.0029); and rs2074379 (P=0.0019) and rs2074388 (P=0.0029) of alpha-kinase 1 (ALPK1) were associated with CKD. 25813695 2015
dbSNP: rs2074388
rs2074388
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE Longitudinal analysis with a generalized estimating equation and with adjustment for covariates revealed that rs6929846 of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with the prevalence of hypertriglyceridemia (P=0.0001), hyper-LDL cholesterolemia (P=0.0004), and CKD (P=0.0007); rs2569512 of interleukin enhancer binding factor 3 (ILF3) was associated with hyper-LDL cholesterolemia (P=0.0029); and rs2074379 (P=0.0019) and rs2074388 (P=0.0029) of alpha-kinase 1 (ALPK1) were associated with CKD. 25813695 2015
dbSNP: rs2074380
rs2074380
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE The relation of these five SNPs and of an additional 22 SNPs at these loci to CKD was examined in subject panel B, revealing that rs9846911 at 3q28 was significantly associated with CKD in all individuals and that rs2074381 and rs2074380 in ALPK1 were associated with CKD in individuals with diabetes mellitus. 23539754 2013
dbSNP: rs2074380
rs2074380
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE The relation of these five SNPs and of an additional 22 SNPs at these loci to CKD was examined in subject panel B, revealing that rs9846911 at 3q28 was significantly associated with CKD in all individuals and that rs2074381 and rs2074380 in ALPK1 were associated with CKD in individuals with diabetes mellitus. 23539754 2013
dbSNP: rs2074381
rs2074381
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE The relation of these five SNPs and of an additional 22 SNPs at these loci to CKD w</span>as examined in subject panel B, revealing that rs9846911 at 3q28 was significantly associated with CKD in all individuals and that rs2074381 and rs2074380 in ALPK1 were associated with CKD in individuals with diabetes mellitus. 23539754 2013
dbSNP: rs2074381
rs2074381
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE The relation of these five SNPs and of an additional 22 SNPs at these loci to CKD was examined in subject panel B, revealing that rs9846911 at 3q28 was significantly associated with CKD in all individuals and that rs2074381 and rs2074380 in ALPK1 were associated with CKD in individuals with diabetes mellitus. 23539754 2013