Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure. 29718757

2018

Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. 24725409

2014

Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD The circling mutant Pcdh15roda is a new mouse model for hearing loss. 24044941

2014

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Moderate light-induced degeneration of rod photoreceptors with delayed transducin translocation in shaker1 mice. 21447681

2011

Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. 20502675

2010

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells. 20016096

2009

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. 18339676

2008

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. 18339676

2008

Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. 18339676

2008

Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Ush1c216A knock-in mouse survives Katrina. 17174357

2007

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. 17329413

2007

Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea. 16972005

2006

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. 16281288

2006

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A quantitative survey of gravity receptor function in mutant mouse strains. 16235133

2005

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A quantitative survey of gravity receptor function in mutant mouse strains. 16235133

2005

Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A quantitative survey of gravity receptor function in mutant mouse strains. 16235133

2005

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. 15389316

2004

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. 14609561

2003

Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. 14519688

2003

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. 11138008

2001

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). 11750125

2001

Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. 11124469

2001

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. 11322776

2001

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Chromosomal localization of a gene responsible for vestibulocochlear defects of BUS/Idr mice: identification as an allele of waltzer. 10452381

1999

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. 9435277

1998