MYRF, myelin regulatory factor, 745

N. diseases: 102; N. variants: 44
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		0.010 Biomarker group BEFREE MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. 30985895 2019
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		0.100 Biomarker disease HPO
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease GWASCAT GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12. 29471430 2018
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516 2016
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease GWASCAT Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. 30529582 2019
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.100 Biomarker disease HPO
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.100 CausalMutation disease CLINVAR
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 Biomarker disease BEFREE Our results may provide useful clues for further understanding the functional role of the C-terminal region of this critical myelin regulatory factor, as well as the molecular pathogenesis of high hyperopia and its associated angle-closure glaucoma. 31172260 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.100 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.010 AlteredExpression disease BEFREE These findings unmasked that the pro-apoptosis impact of LUCAT1 in SMCs via directly targeting miR-199a-5p to elevate MYRF expression, which may provide valuable information on AAA prevention.This article is protected by copyright.All rights reserved. 31769911 2020
CUI: C2316832
Disease: Arachidonic acid measurement
Arachidonic acid measurement 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population. 26584805 2015
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation group CLINVAR
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0339675
Disease: Axial hypermetropia
Axial hypermetropia 		0.010 GeneticVariation disease BEFREE In addition, we identified an early truncating MYRF frameshift mutation, c.769dupC (p.S264QfsX74), in a patient with extreme axial hyperopia and syndromic features. 31048900 2019
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		0.100 Biomarker disease HPO
CUI: C1735886
Disease: Bland White Garland Syndrome
Bland White Garland Syndrome 		0.100 GeneticVariation phenotype CLINVAR
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation disease CLINVAR
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 GeneticVariation disease UNIPROT De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 29446546 2018