ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.320 AlteredExpression group BEFREE Raised renal ALPK1 level in patients with diabetes was reported. 31557402 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.320 Biomarker group CTD_human As renal injury is a common outcome of CKD, diabetes and gout, the aim of this study was to investigate the effect of ALPK1 in the development of renal injury in a hyperglycemic condition. 27542954 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.320 GeneticVariation group 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
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.300 Biomarker disease CTD_human Enhanced alpha-kinase 1 accelerates multiple early nephropathies in streptozotocin-induced hyperglycemic mice. 27542954 2016
CUI: C0017667
Disease: Nodular glomerulosclerosis
Nodular glomerulosclerosis 		0.300 Biomarker disease CTD_human Enhanced alpha-kinase 1 accelerates multiple early nephropathies in streptozotocin-induced hyperglycemic mice. 27542954 2016
CUI: C0018099
Disease: Gout
Gout 		0.300 Biomarker disease CTD_human Enhanced alpha-kinase 1 accelerates multiple early nephropathies in streptozotocin-induced hyperglycemic mice. 27542954 2016
CUI: C0027719
Disease: Nephrosclerosis
Nephrosclerosis 		0.300 Biomarker disease CTD_human Enhanced alpha-kinase 1 accelerates multiple early nephropathies in streptozotocin-induced hyperglycemic mice. 27542954 2016
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.300 Biomarker phenotype CTD_human Enhanced alpha-kinase 1 accelerates multiple early nephropathies in streptozotocin-induced hyperglycemic mice. 27542954 2016
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 GeneticVariation disease 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
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 GeneticVariation phenotype CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation group CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
CUI: C0858613
Disease: Optic nerve oedema
Optic nerve oedema 		0.100 GeneticVariation disease CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.100 GeneticVariation phenotype CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
CUI: C4225670
Disease: ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS 		0.100 GeneticVariation disease CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype 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
CUI: C0028754
Disease: Obesity
Obesity 		0.100 GeneticVariation disease GWASDB A genome-wide association meta-analysis identifies new childhood obesity loci. 22484627 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.100 GeneticVariation disease GWASCAT A genome-wide association meta-analysis identifies new childhood obesity loci. 22484627 2012
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.030 Biomarker group BEFREE ALPK1 is associated with chronic kidney disease, gout and type 2 diabetes mellitus. 31557402 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.030 GeneticVariation group 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
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.030 GeneticVariation group 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