Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854523
rs137854523
ANO5
T 0.700 CausalMutation CLINVAR ANO5-muscular dystrophy: clinical, pathological and molecular findings. 23663589

2013
dbSNP: rs137854523
rs137854523
ANO5
T 0.700 CausalMutation CLINVAR Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 22402862

2012
dbSNP: rs137854523
rs137854523
ANO5
T 0.700 CausalMutation CLINVAR Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 20096397

2010
dbSNP: rs137854523
rs137854523
ANO5
T 0.700 CausalMutation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276

2015
dbSNP: rs137854523
rs137854523
ANO5
T 0.700 CausalMutation CLINVAR Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. 23670307

2013
dbSNP: rs137854523
rs137854523
ANO5
T 0.700 CausalMutation CLINVAR Dilated cardiomyopathy in patients with mutations in anoctamin 5. 23041008

2013
dbSNP: rs137854523
rs137854523
ANO5
T 0.700 CausalMutation CLINVAR ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. 23606453

2013
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936

2012
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126

2002
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Screening for hereditary fructose intolerance mutations by reverse dot-blot. 10024431

1999
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. 8162030

1994
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Mutation analysis in Turkish patients with hereditary fructose intolerance. 11757579

2001
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. 15532022

2004
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Aldolase B mutations in Italian families affected by hereditary fructose intolerance. 1856829

1991
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303

2002
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. 20848650

2010
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. 18541450

2008
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. 10970798

2000
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. 20033295

2010
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Molecular analysis of aldolase B genes in hereditary fructose intolerance. 1967768

1990
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126

2002
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. 23430936

2012
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380

1990
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain. 12205126

2002
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005