Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
0.600 GeneticVariation disease UNIPROT ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 22645276 2012
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
0.600 GeneticVariation disease UNIPROT Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 22068589 2012
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
0.600 Biomarker disease GENOMICS_ENGLAND Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 22068589 2012
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
0.600 GeneticVariation disease UNIPROT Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. 21441919 2011
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
0.600 Biomarker disease GENOMICS_ENGLAND Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development. 11889557 2002
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
0.600 Biomarker disease GENOMICS_ENGLAND
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
0.600 CausalMutation disease CLINVAR