MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
1.000 Biomarker disease GENOMICS_ENGLAND
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: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11
0.740 Biomarker disease CTD_human
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11
0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11
0.740 CausalMutation disease CLINVAR
CUI: C1832475
Disease: Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 11
0.740 GeneticVariation disease CLINVAR
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder)
0.700 CausalMutation disease CLINVAR
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder)
0.700 GeneticVariation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.500 CausalMutation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.500 GeneticVariation phenotype CLINVAR
CUI: C2931206
Disease: Usher syndrome, type 1B
Usher syndrome, type 1B
0.400 Biomarker disease CTD_human
CUI: C0011053
Disease: Deafness
Deafness
0.300 CausalMutation phenotype CLINVAR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
Sensorineural hearing loss, bilateral
0.300 Biomarker disease HPO
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.180 GeneticVariation disease CLINVAR
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.150 Biomarker phenotype HPO
Sensorineural Hearing Loss (disorder)
0.130 Biomarker disease HPO
Sensorineural Hearing Loss (disorder)
0.130 GeneticVariation disease CLINVAR
Progressive sensorineural hearing impairment
0.110 GeneticVariation disease CLINVAR
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.110 Biomarker disease HPO