Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		0.100 Biomarker phenotype HPO
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease GWASDB Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 AlteredExpression disease BEFREE The analyses in peripheral blood showed association between AF risk SNPs and decreased expression of KCNN3 (0.85-fold; p=2.1×10(-4)); and increased expression of SYNE2 (1.12-fold; p=7.5×10(-24)); however, these associations were not detectable in atrial tissue. 26073630 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease GWASCAT Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 28416818 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease BEFREE Genome-wide association studies (GWAS) have identified common variants in nine genomic regions associated with AF (KCNN3, PRRX1, PITX2, WNT8A, CAV1, C9orf3, SYNE2, HCN4 and ZFHX3 genes); however, the genetic variability of these risk variants does not explain the entire genetic susceptibility to AF. 25391453 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 GeneticVariation disease GWASCAT Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.420 Biomarker disease CTD_human Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.100 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation disease GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.500 Biomarker disease CTD_human
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		0.300 Biomarker disease CTD_human
CUI: C0004604
Disease: Back Pain
Back Pain 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 Biomarker group BEFREE Loss of the largest isoform Nesprin-2 Giant in mice is associated with a skin phenotype and altered wound healing, loss of C-terminal isoforms in mice leads to cardiomyopathies and neurological defects. 30220251 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 GeneticVariation group BEFREE To test this, we analyzed RNA-Seq datasets, finding novel isoforms or isoform tissue-specificity for: Lap2, linked to cardiomyopathy; Nesprin 2, linked to Emery-Dreifuss muscular dystrophy and Lmo7, that regulates the Emery-Dreifuss muscular dystrophy linked emerin gene. 29912636 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation disease BEFREE Variants in SYNE2, MRPL47 and BAHD1 genes are putative new risk factors for VIPN in childhood acute lymphoblastic leukemia. 30191766 2018
CUI: C1837352
Disease: Childhood onset
Childhood onset 		0.100 Biomarker phenotype HPO
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011