Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.320 GermlineCausalMutation disease ORPHANET Our studies revealed nine affected individuals from four independent families in which IHH/KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3.3%. 28324054 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.320 GeneticVariation disease BEFREE Our studies revealed nine affected individuals from four independent families in which IHH/KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3.3%. 28324054 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.320 SusceptibilityMutation disease ORPHANET Our studies revealed nine affected individuals from four independent families in which IHH/KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3.3%. 28324054 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.320 GeneticVariation disease BEFREE CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. 27014940 2016
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.310 GeneticVariation disease BEFREE Our studies revealed nine affected individuals from four independent families in which IHH/KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3.3%. 28324054 2017
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.310 Biomarker disease CTD_human
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.110 GeneticVariation disease BEFREE CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. 27014940 2016
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.110 Biomarker disease HPO
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351 2018
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.100 GeneticVariation phenotype GWASCAT Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system. 29769521 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. 28135244 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.100 GeneticVariation phenotype GWASCAT Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. 27798624 2016
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASDB Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 23583979 2013
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASCAT Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 23583979 2013
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912 2013
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912 2013
CUI: C0003126
Disease: Anosmia
Anosmia 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO