Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901 2019
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		0.010 Biomarker disease BEFREE Furthermore, while none of the 184 genetic risk genes are "well established" BPD drug targets, our PPI analysis showed that αCaMKII (encoded by CAMK2A) had direct physical PPIs with targets (HRH1, SCN5A and CACNA1E) of clinically used anti-manic BPD drugs, such as carbamazepine. 31150948 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE In the present study, the influence of BZ formula on the effectiveness of tamoxifen in breast cancer in mice and the effects of tamoxifen on the antidepressant effect of BZ formula and its major components mangiferin and timosaponin BII in mice were investigated. 31484532 2019
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 Biomarker disease BEFREE Furthermore, while none of the 184 genetic risk genes are "well established" BPD drug targets, our PPI analysis showed that αCaMKII (encoded by CAMK2A) had direct physical PPIs with targets (HRH1, SCN5A and CACNA1E) of clinically used anti-manic BPD drugs, such as carbamazepine. 31150948 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 Biomarker disease BEFREE Proteomic analysis of olfactory bulb suggests CACNA1E as a promoter of CREB signaling in microbiota-induced depression. 30521978 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 Biomarker disease BEFREE Proteomic analysis of olfactory bulb suggests CACNA1E as a promoter of CREB signaling in microbiota-induced depression. 30521978 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 Biomarker phenotype BEFREE Proteomic analysis of olfactory bulb suggests CACNA1E as a promoter of CREB signaling in microbiota-induced depression. 30521978 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE In the present study, the influence of BZ formula on the effectiveness of tamoxifen in breast cancer in mice and the effects of tamoxifen on the antidepressant effect of BZ formula and its major components mangiferin and timosaponin BII in mice were investigated. 31484532 2019
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.600 Biomarker disease GENOMICS_ENGLAND De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.600 GeneticVariation disease UNIPROT De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. 30343943 2018
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.300 Biomarker disease GENOMICS_ENGLAND De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		0.300 Biomarker group GENOMICS_ENGLAND Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. 30343943 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 GeneticVariation disease BEFREE De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. 30098192 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 Biomarker disease BEFREE Identification of the subpaths of each subtype indicated that the subpath related to subtype 1 was miRNA (miR)‑202/calcium voltage‑gated channel subunit α1 (CACNA1E)/type II diabetes mellitus. 29286091 2018
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 GeneticVariation group BEFREE We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders. 30343943 2018