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: 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
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 GeneticVariation disease UNIPROT An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (). 30070761 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 GeneticVariation disease UNIPROT De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 30532227 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 29446546 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 30532227 2018
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		0.600 CausalMutation disease CLINVAR
CUI: C4722446
Disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION 		0.400 GeneticVariation disease UNIPROT MYRF is associated with encephalopathy with reversible myelin vacuolization. 29265453 2018
CUI: C4722446
Disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION 		0.400 CausalMutation disease CLINVAR
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.320 Biomarker disease GENOMICS_ENGLAND Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. 31048900 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.320 Biomarker disease BEFREE The underlying mechanism of MYRF in the development of nanophthalmos needs to be further investigated. 31266062 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.320 GeneticVariation disease BEFREE Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. 31048900 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.320 Biomarker disease GENOMICS_ENGLAND Using Myc-MYRF chromatin immunoprecipitation data from rat oligodendrocytes, <i>MYRF</i> was found to bind immediately upstream of the transcriptional start site of <i>Tmem98</i>, a gene that itself has been implicated in autosomal dominant nanophthalmos. 31700225 2019
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		0.300 Biomarker phenotype GENOMICS_ENGLAND Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. 31048900 2019
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		0.300 Biomarker phenotype GENOMICS_ENGLAND Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. 31700225 2019
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia 		0.300 Biomarker disease GENOMICS_ENGLAND De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 30532227 2018
CUI: C0036400
Disease: Scimitar Syndrome
Scimitar Syndrome 		0.110 GeneticVariation disease BEFREE Heterozygous variants in MYRF should be considered in patients with variants of Scimitar syndrome and urogenital anomalies. 29446546 2018
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.110 GeneticVariation disease BEFREE Common phenotypes of MYRF de novo variant carriers include CDH, congenital heart disease and genitourinary abnormalities, suggesting that it represents a novel syndrome. 30532227 2018
CUI: C0036400
Disease: Scimitar Syndrome
Scimitar Syndrome 		0.110 CausalMutation disease CLINVAR
CUI: C0036400
Disease: Scimitar Syndrome
Scimitar Syndrome 		0.110 Biomarker disease HPO
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.110 CausalMutation disease CLINVAR
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 GeneticVariation disease GWASCAT Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. 30529582 2019