Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225167
Disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 		0.700 GeneticVariation disease UNIPROT Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. 26755636 2016
CUI: C4225167
Disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 		0.700 GermlineCausalMutation disease ORPHANET Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. 26755636 2016
CUI: C4225167
Disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 		0.700 Biomarker disease CTD_human
CUI: C4225167
Disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 		0.700 CausalMutation disease CLINVAR
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.510 GeneticVariation disease BEFREE Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. 27816943 2017
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.510 Biomarker disease GENOMICS_ENGLAND Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. 27816943 2017
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.510 GermlineCausalMutation disease ORPHANET Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. 27816943 2017
CUI: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		0.400 GeneticVariation disease UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
CUI: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		0.400 GeneticVariation disease UNIPROT Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. 27816943 2017
CUI: C4540345
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 		0.400 CausalMutation disease CLINVAR
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.200 Biomarker disease MGD
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.130 GeneticVariation disease BEFREE We identified six significant lung cancer risk-associated SNPs in two genes (CSNK2B and ZAK) after correction for multiple comparisons by a false discovery rate (FDR) <0.20. 29071797 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.130 GeneticVariation disease GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.130 AlteredExpression disease BEFREE In keeping with previous observations, we find that Notch3 in particular is upregulated in human lung cancer lines and that downregulation of Notch signaling using a selective γ-secretase inhibitor (MRK-003) is associated with decreased proliferation and clonogenic capacity in vitro. 21994468 2011
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.130 Biomarker disease BEFREE In this study, we determined the ability of MRK-003, a gamma-secretase inhibitor, to inhibit Notch3 signaling, growth, and apoptosis of lung cancer cell lines in vitro and in vivo using mouse xenograft models. 17804716 2007
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO