BMP2K, BMP2 inducible kinase, 55589

N. diseases: 14; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.300 GeneticVariation disease UNIPROT
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.020 Biomarker disease BEFREE One hundred thirty physically inactive women and men (20-45 yr) with overweight and obesity were randomized to 6 mo of habitual lifestyle (CON, n = 18), active commuting (BIKE, n = 35), or leisure-time exercise of moderate [MOD, 50% peak oxygen uptake (V̇o<sub>2peak</sub>)-reserve, n = 39] or vigorous (VIG, 70% V̇o<sub>2peak</sub>-reserve, n = 38) intensity. 30605397 2019
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.020 Biomarker disease BEFREE We randomized 130 younger, physically inactive women and men with overweight and obesity (body mass index: 25-35 kg m<sup>-</sup><sup>2</sup>) to 6 months of habitual lifestyle (control; CON, n=18), active commuting (BIKE, n=35) or leisure-time exercise of moderate (MOD, 50% VO<sub>2</sub>peak reserve, n=39) or vigorous intensity (VIG, 70% VO<sub>2</sub>peak reserve, n=38). 28993707 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Bone morphogenetic protein 2-inducible kinase (BMP2K) binds to the INV region and contributes to IRS2-dependent invasion. 29685905 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.010 Biomarker disease BEFREE We randomized 130 younger (20-45 years), physically inactive, healthy, overweight and obese (BMI: 25-35 kg/m<sup>2</sup>) women and men recruited from the Copenhagen area, Denmark, to either 6 months of habitual lifestyle (CON, n = 18), active commuting (BIKE, n = 35), or leisure time exercise of moderate (MOD, ∼50% VO<sub>2</sub>peak, n = 39) or vigorous intensity (VIG, ∼70% VO<sub>2</sub>peak, n = 38). 28679486 2017
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.010 GeneticVariation disease BEFREE Two novel heterozygous, inframe mutations causing multi-nucleotide substitution polymorphisms (c.1432_1440delCAGCAGCAG corresponding with p.Gln478_480del and c.1440_1441insCAG corresponding with p.Gln480ins) in exon 11 of chromosome 4 in bone morphogenetic proteins-2-inducible kinase (BMP2K) were identified; these were found in members of the pedigree affected by DDH and in the unaffected grandmother of the proband, who was deemed to be the carrier of potential mutations, but not in the unaffected normal control saunt of the proband. 28565766 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 Biomarker disease BEFREE BMP2K, a gene not previously linked to CLL, was also identified as a modulator of response to fludarabine. 26957556 2016
CUI: C0027092
Disease: Myopia
Myopia 		0.010 GeneticVariation disease BEFREE These data suggest that BMP2K gene 1379 G/A variant is strongly correlated with high myopia and may contribute to a genetic risk factor for high degrees of myopic pathogenesis. 19927351 2009
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 GeneticVariation disease BEFREE These data suggest that BMP2K gene 1379 G/A variant is strongly correlated with high myopia and may contribute to a genetic risk factor for high degrees of myopic pathogenesis. 19927351 2009
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 GeneticVariation disease LHGDN BMP-2 gene polymorphisms and osteoporosis: the Rotterdam Study. 16753015 2006