FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.710 GeneticVariation disease UNIPROT X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 18179901 2008
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.710 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: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.710 CausalMutation disease CLINVAR
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.710 Biomarker disease CTD_human
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.710 Biomarker disease GENOMICS_ENGLAND