Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
0.650 Biomarker disease BEFREE Together, our findings suggest that loss of Spata7 in photoreceptors alone is sufficient to cause photoreceptor degeneration, but its function in the RPE is not required for photoreceptor survival; therefore, loss of Spata7 in photoreceptors alters both rod and cone function and survival, consistent with the clinical phenotypes observed in LCA and RP patients with mutations in SPATA7. 29100828 2018
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
0.650 Biomarker disease BEFREE SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. 26854980 2016
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
0.650 GeneticVariation disease BEFREE Several mutations in SPATA7 have been reported for various forms of retinal dystrophy, including Leber congenital amaurosis (LCA) and juvenile RP. 25814828 2015
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
0.650 GeneticVariation disease BEFREE Recently, mutations in the widely expressed gene SPATA7 were reported to cause LCA or juvenile retinitis pigmentosa. 20104588 2010
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
0.650 GeneticVariation disease BEFREE Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. 19268277 2009
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
0.650 GermlineCausalMutation disease ORPHANET Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. 19268277 2009
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
0.650 Biomarker disease CTD_human Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. 19268277 2009
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
0.650 Biomarker disease GENOMICS_ENGLAND