Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.330 Biomarker disease BEFREE Low prevalence of RET rearrangements (RET/PTC1, RET/PTC2, RET/PTC3, and ELKS-RET) in sporadic papillary thyroid carcinomas in Taiwan Chinese. 15876154 2005
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.330 AlteredExpression disease BEFREE Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma. 12203787 2002
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.330 GeneticVariation disease BEFREE The ELKS-RET gene fusion rearrangement we had observed in a papillary thyroid carcinoma occurred between intron 10 of the ELKS gene and intron 11 of RET. 10697956 2000
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.330 FusionGene disease ORPHANET Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma. 10337992 1999
CUI: C4749581
Disease: Distal monosomy 12p
Distal monosomy 12p 		0.300 ChromosomalRearrangement disease ORPHANET 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. 22713806 2013
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.110 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.110 Biomarker disease LHGDN A PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3) involving the ERC1 gene. 17690697 2008
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Evaluation and application of summary statistic imputation to discover new height-associated loci. 29782485 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE The scaffold protein ERC1/ELKS and its partners promote cell migration and invasion, and assemble into dynamic networks at the protruding edge of cells. 31537859 2019
CUI: C0042345
Disease: Varicosity
Varicosity 		0.010 Biomarker disease BEFREE Using super resolution microscopy, we identified co-clustering of the active zone scaffolding proteins bassoon, RIM and ELKS in ∼30% of dopamine varicosities. 29398114 2018
CUI: C0234233
Disease: Sore to touch
Sore to touch 		0.010 AlteredExpression phenotype BEFREE The present results suggest that meat tenderness in Nellore cattle does not directly depend on the expression of the CAPN1 and CAPN2 genes, but is associated with the expression of other genes such as CAST2, HSP90AA1, DNAJA1 and HSPB1. 29331838 2018
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		0.010 GeneticVariation disease BEFREE Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women. 29088863 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 Biomarker disease BEFREE All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmental delay, and we suggest that ERC1, which encodes a regulator of neurotransmitter release, is the best gene candidate contributing to this phenotype as well as to the ASD of our patient. 24613754 2014
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		0.010 GeneticVariation disease BEFREE 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. 22713806 2013
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE Hemizygous deletions of ERC1, FBXL14, or WNT5B genes may be involved in the development of neurological disorders in these individuals. 21144913 2011
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 Biomarker disease BEFREE Taken together, these results suggest the possibility that NS3 plays a role in modulating host-cell functions such as intracellular transport and secretion through its binding to ELKS-delta and ELKS-alpha, which may facilitate the virus life cycle and/or mediate the pathogenesis of HCV. 16033967 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation group BEFREE We identified one tumor as having an ELKS-RET rearrangement (1 of 105, 1%). 15876154 2005
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 Biomarker disease LHGDN Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma. 12203787 2002