FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122458140
rs122458140
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678061
Disease:
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs122458140
rs122458140
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678061
Disease:
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
dbSNP: rs122458141
rs122458141
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678055
Disease:
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
dbSNP: rs267606811
rs267606811
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678055
Disease:
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
dbSNP: rs267606811
rs267606811
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678055
Disease:
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.800 GeneticVariation UNIPROT Consequences of mutations within the C terminus of the FHL1 gene. 19687455 2009
dbSNP: rs267606812
rs267606812
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 19181672 2009
dbSNP: rs267606812
rs267606812
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT Novel FHL1 mutations in fatal and benign reducing body myopathy. 19171836 2009
dbSNP: rs267606813
rs267606813
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT Novel FHL1 mutations in fatal and benign reducing body myopathy. 19171836 2009
dbSNP: rs267606813
rs267606813
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 19181672 2009
dbSNP: rs122458140
rs122458140
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678061
Disease:
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.800 GeneticVariation UNIPROT X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 18179901 2008
dbSNP: rs267606811
rs267606811
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678055
Disease:
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		0.800 GeneticVariation UNIPROT An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 18179888 2008
dbSNP: rs267606812
rs267606812
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. 18274675 2008
dbSNP: rs267606813
rs267606813
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. 18274675 2008
dbSNP: rs122458140
rs122458140
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678061
Disease:
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		C 0.800 CausalMutation CLINVAR
dbSNP: rs122458141
rs122458141
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2678055
Disease:
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs122458142
rs122458142
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT
dbSNP: rs122458142
rs122458142
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		T 0.800 CausalMutation CLINVAR
dbSNP: rs122458143
rs122458143
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT
dbSNP: rs122458143
rs122458143
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		T 0.800 CausalMutation CLINVAR
dbSNP: rs122458144
rs122458144
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225159
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		C 0.800 CausalMutation CLINVAR
dbSNP: rs122458144
rs122458144
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225159
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		0.800 GeneticVariation UNIPROT
dbSNP: rs122458145
rs122458145
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225159
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		A 0.800 CausalMutation CLINVAR
dbSNP: rs122458145
rs122458145
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225159
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 		0.800 GeneticVariation UNIPROT
dbSNP: rs122459146
rs122459146
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		0.800 GeneticVariation UNIPROT
dbSNP: rs122459146
rs122459146
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C4225423
Disease:
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 		A 0.800 CausalMutation CLINVAR