Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 Biomarker disease BEFREE The overlap between FSHD1 and FSHD2 patients in the 9-10 D4Z4 RU range suggests that FSHD1 and FSHD2 form a disease continuum. 30979860 2019
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease UNIPROT These data demonstrated that FSHD2 mutations only result in decreased ATP hydrolysis, whereas many BAMS mutations can result in elevated ATPase activity and decreased eye size in <i>Xenopus</i> Interestingly, a mutation reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller <i>Xenopus</i> eye size. 29748383 2018
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease BEFREE Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552<sup>∗</sup>). 30327220 2018
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease BEFREE Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations. 27061275 2017
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 Biomarker disease CTD_human SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909 2017
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 Biomarker disease CTD_human De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. 28067911 2017
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 CausalMutation disease CLINVAR SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909 2017
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease UNIPROT De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. 28067911 2017
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease UNIPROT The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain. 27059856 2016
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease UNIPROT Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. 25370034 2015
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease UNIPROT Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. 25256356 2015
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease BEFREE The higher frequency of restrictive lung disease in FSHD2 seen here requires confirmation in a larger cohort of FSHD2 patients. 24639337 2014
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease BEFREE Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. 24128691 2013
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease BEFREE Mutations in the structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene, encoding a chromatin modifier of D4Z4, also result in the increased likelihood of DUX4 expression in individuals with a rare form of FSHD (FSHD2). 24075187 2013
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease UNIPROT Mutations in the structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene, encoding a chromatin modifier of D4Z4, also result in the increased likelihood of DUX4 expression in individuals with a rare form of FSHD (FSHD2). 24075187 2013
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease UNIPROT Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. 24128691 2013
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease UNIPROT Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 23143600 2012
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 CausalMutation disease CLINVAR Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 23143600 2012
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 Biomarker disease CTD_human Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 23143600 2012
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 GeneticVariation disease CLINVAR Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 23143600 2012
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		0.760 Biomarker disease GENOMICS_ENGLAND