MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher syndrome type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.320 GeneticVariation disease BEFREE Identification of novel mutation in compound heterozygosity in MYO7A gene revealed the genetic origin of Usher syndrome type 2 in this Han family. 27729122 2016
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.320 GermlineCausalMutation disease ORPHANET Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.320 Biomarker disease BEFREE We performed SSCP screening of MYO7A in 12 unrelated patients suffering from Usher syndrome type 1 (USH1) and USH2A in 28 unrelated patients affected by Usher syndrome type 2 (USH2). 15823922 2005