Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.540 AlteredExpression disease 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: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.540 GeneticVariation disease BEFREE The more common X-linked recessive form of EDMD is caused by mutations in either EMD (encoding emerin) or FHL1 (encoding four and a half LIM domains 1), while mutations in LMNA (encoding lamin A/C), SYNE1 (encoding nesprin-1) and SYNE2 (encoding nesprin-2) lead to autosomal dominant forms of the condition. 23456229 2013
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.540 Biomarker disease BEFREE Screening for DNA variations in the genes encoding nesprin-1 (SYNE1) and nesprin-2 (SYNE2) in 190 probands with EDMD or EDMD-like phenotypes identified four heterozygous missense mutations. 17761684 2007
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.540 Biomarker disease BEFREE Fibroblasts obtained from EDMD5 (Emery Dreifuss muscular dystrophy) patients showed loss of Nesprin-2 from the nuclear envelope, corresponding reduced nuclear localization of BRCA1 and enhanced cytoplasmic Ca(2+). 26645154 2015
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 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Small Nucleolar Noncoding RNA SNORA23, Up-Regulated in Human Pancreatic Ductal Adenocarcinoma, Regulates Expression of Spectrin Repeat-Containing Nuclear Envelope 2 to Promote Growth and Metastasis of Xenograft Tumors in Mice. 28390868 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Additionally, immunohistochemistry showed higher levels of Nesprin-2 in many tumors in comparison with normal tissues. 24080406 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Nesprin-2 was selected from two independent microarrays, based on its novelty in relation to cancer and its role in cell organization. 24080406 2014
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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation disease BEFREE Acute myeloid leukemia with t(14;21) involving RUNX1 and SYNE2: A novel favorable-risk translocation? 29025598 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. 30429480 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE SNORA23 increases expression of SYNE2, possibly through modulation of ribosome biogenesis, to promote PDAC cell survival and invasion, and growth and metastasis of xenograft tumors in mice. 28390868 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Depleting fascin or specifically blocking the fascin-Nesprin-2 complex leads to defects in nuclear polarization, movement and cell invasion. 28060557 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Nesprin-2 was selected from two independent microarrays, based on its novelty in relation to cancer and its role in cell organization. 24080406 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 GeneticVariation disease BEFREE Our findings indicate that variants of EGFR and SYNE2 play an important role in p21 regulation and are associated with the clinical outcome of HBV-related HCC in a TP53-indenpdent manner. 27502069 2016
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.600 CausalMutation disease CLINVAR
CUI: C2751805
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease CLINVAR
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.540 Biomarker disease CTD_human
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.500 Biomarker disease CTD_human
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 Biomarker disease CTD_human Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
CUI: C0007134
Disease: Renal Cell Carcinoma
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