MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 Biomarker disease GENOMICS_ENGLAND
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 Biomarker disease CTD_human
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 Biomarker disease GENOMICS_ENGLAND Defective myosin VIIA gene responsible for Usher syndrome type 1B. 7870171 1995
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. 9002678 1997
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease UNIPROT Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 9171832 1997
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 9171832 1997
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease UNIPROT The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 9171833 1997
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease 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: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease 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: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 Biomarker disease GENOMICS_ENGLAND Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib. 9843659 1998
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Identification of three novel mutations in the MYO7A gene. 10447383 1999
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322 2000
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322 2000
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664 2002
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 Biomarker disease BEFREE Unusual phenotypes in autosomal dominant forms of deafness, include low frequency hearing loss in DFNA1 (HDIA1) and DFNA6/14/38 (WFS1), mid-frequency hearing loss in DFNA8/12 (TECTA), DFNA13 (COL11A2) and vestibular symptoms and signs in DFNA9 (COCH) and sometimes in DFNA11 (MYO7A). 12324385 2002
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. 15043528 2004
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. 15043528 2004
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 15660226 2005
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Novel mutations in MYO7A and USH2A in Usher syndrome. 15823922 2005
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 GeneticVariation disease CLINVAR USH1A: chronicle of a slow death. 16400615 2006
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR USH1A: chronicle of a slow death. 16400615 2006
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		0.930 CausalMutation disease CLINVAR Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. 16470552 2006