Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225341
Disease: DYSTONIA 26, MYOCLONIC
DYSTONIA 26, MYOCLONIC 		0.600 GeneticVariation disease UNIPROT A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. 25983243 2015
CUI: C4225341
Disease: DYSTONIA 26, MYOCLONIC
DYSTONIA 26, MYOCLONIC 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4225341
Disease: DYSTONIA 26, MYOCLONIC
DYSTONIA 26, MYOCLONIC 		0.600 CausalMutation disease CLINVAR
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		0.510 GermlineCausalMutation disease ORPHANET The clinical presentation of the KCTD17-mutated cases was distinct from the phenotype usually observed in M-D due to SGCE mutations. 25983243 2015
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		0.510 GeneticVariation disease BEFREE After excluding SGCE mutations, we identified through a combination of linkage analysis and whole-exome sequencing KCTD17 c.434 G>A p.(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screening in a cohort of M-D cases without mutations in SGCE revealed the same KCTD17 variant in a German family. 25983243 2015
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		0.510 Biomarker disease CTD_human
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASDB Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. 22560525 2012
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0031212
Disease: Personality Disorders
Personality Disorders 		0.100 Biomarker group HPO
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 Biomarker phenotype HPO
CUI: C0086769
Disease: Panic Attacks
Panic Attacks 		0.100 Biomarker disease HPO
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.100 Biomarker disease HPO
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		0.100 Biomarker disease HPO
CUI: C3697670
Disease: Spinal cord myoclonus
Spinal cord myoclonus 		0.100 Biomarker disease HPO
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		0.100 Biomarker disease HPO
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 AlteredExpression disease BEFREE KCTD17, which is up-regulated in liver tissues of obese mice and patients with NAFLD, binds to phosphorylated PHLPP2 to target it for ubiquitin-mediated degradation; this increases expression of genes that regulate lipogenesis to promote hepatic steatosis. 28859855 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 AlteredExpression disease BEFREE Levels of KCTD17 mRNA were increased in livers of HFD-fed C57BL/6J or db/db obese mice and in liver biopsies patients with NAFLD, compared with liver tissues from healthy control mice or patients without steatosis. 28859855 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.010 Biomarker phenotype BEFREE The novel myoclonus-dystonia genes KCTD17 and CACNA1B also implicate abnormal calcium signaling in dystonia. 26991507 2016