MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Overgrowth ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 21150918 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Phenotypes in defined genotypes including siblings with Usher syndrome. 21174530 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Phenotypes in defined genotypes including siblings with Usher syndrome. 21174530 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 21150918 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 20132242 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. 20132242 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 18181211 2008
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 17361009 2007
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 17361009 2007
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 15221449 2004
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). 15221449 2004
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784 1997
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 9171833 1997
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 9382091 1997
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 9171833 1997
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784 1997
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 9382091 1997
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 8776602 1996
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. 8776602 1996
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation phenotype CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Defective myosin VIIA gene responsible for Usher syndrome type 1B. 7870171 1995