FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND Four and a half LIM domain protein signaling and cardiomyopathy. 29926425 2018
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 CausalMutation disease CLINVAR Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1. 26857240 2016
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease BEFREE FHL1 gene mutations are associated with reducing body myopathy, X-linked myopathy with postural muscle atrophy, scapuloperoneal myopathy, Emery-Dreifuss muscular dystrophy, and isolated hypertrophic cardiomyopathy. 25246303 2015
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease BEFREE Furthermore, SPM and XMPMA FHL1 mutants retarded myotube formation relative to vector control, consistent with a dominant-negative or toxic function. 24634512 2014
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease BEFREE X-linked myopathy with postural muscle atrophy is a novel X-linked myopathy caused by mutations in the four-and-a-half LIM domain 1 gene (FHL1). 22923418 2012
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease CLINVAR Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene. 22923418 2012
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease BEFREE Mutations in the FHL1 gene are causative for several types of hereditary myopathies including X-linked myopathy with postural muscle atrophy (XMPMA). 22053194 2011
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease BEFREE FHL1 mutations cause Emery-Dreifuss muscular dystrophy (OMIM 310300), X-linked myopathy with postural muscle atrophy (XMPMA, OMIM 300696), scapuloperoneal myopathy (OMIM 300695), or reducing body myopathy (OMIM 300717, 300718). 21932316 2011
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease UNIPROT Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. 20186852 2010
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 CausalMutation disease CLINVAR Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. 19716112 2009
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease BEFREE As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found. 19687455 2009
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease UNIPROT Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. 19716112 2009
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease CLINVAR As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found. 19687455 2009
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found. 19687455 2009
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease UNIPROT As a consequence of C terminal FHL1 gene mutations, the X-linked myopathy characterized by postural muscle atrophy (XMPMA) phenotype and morphotype with cytoplasmic bodies are found. 19687455 2009
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease BEFREE Four-and-a-half LIM domain 1 gene (FHL1) has recently been identified as the causative gene for reducing body myopathy (RBM), X-linked scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). 18952429 2008
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease UNIPROT An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 18179888 2008
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 Biomarker disease BEFREE In summary, we have to our knowledge characterized a new disorder, X-linked myopathy with postural muscle atrophy (XMPMA), and identified FHL1 as the causative gene. 18179888 2008
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GermlineCausalMutation disease ORPHANET An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 18179888 2008
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 GeneticVariation disease CLINVAR An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 18179888 2008
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.780 Biomarker disease CTD_human
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.710 Biomarker disease GENOMICS_ENGLAND Four and a half LIM domain protein signaling and cardiomyopathy. 29926425 2018
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.710 GeneticVariation disease UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.710 GermlineCausalMutation disease ORPHANET X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 18179901 2008