Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD A high-resolution genetic map around waltzer on mouse chromosome 10 and identification of a new allele of waltzer. 9021139

1997

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Mutation analysis of the mouse myosin VIIA deafness gene. 9680294

1997

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD CD1d1 mutant mice are deficient in natural T cells that promptly produce IL-4. 9133426

1997

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Cochlear histopathology of the mutant bustling mouse, BUS/Idr. 8790740

1996

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Ultrastructural findings in the inner ear of Jackson shaker mice. 1442008

1992

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: ultrastructural observations. 6627025

1983

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD Behavioural profiles of neurological mutant mice. 5955164

1966

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD HEARING DEGENERATION IN SHAKER-1 MOUSE. CORRELATION OF PHYSIOLOGICAL OBSERVATIONS WITH BEHAVIORAL RESPONSES AND WITH COCHLEAR ANATOMY. 14198707

1964

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.500 Biomarker MGD The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. 13336002

1956

Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 29674119

2018

Entrez Id: 6010
Gene Symbol: RHO
RHO
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Mouse models of human ocular disease for translational research. 28859131

2017

Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Mouse models of human ocular disease for translational research. 28859131

2017

Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Mouse models of human ocular disease for translational research. 28859131

2017

Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III. 29044151

2017

Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. 27207593

2016

Entrez Id: 92840
Gene Symbol: REEP6
REEP6
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. 27889058

2016

Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. 25398945

2015

Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration. 25616964

2015

Entrez Id: 6102
Gene Symbol: RP2
RP2
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. 25422369

2015

Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. 24833722

2014

Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. 24382353

2014

Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. 25088982

2014

Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Mechanistically distinct mouse models for CRX-associated retinopathy. 24516401

2014

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Therapeutic margins in a novel preclinical model of retinitis pigmentosa. 23946405

2013

Entrez Id: 6102
Gene Symbol: RP2
RP2
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. 23745007

2013