Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777666
rs587777666
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		0.810 GeneticVariation BEFREE Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. 22645276 2012
dbSNP: rs587777666
rs587777666
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		0.810 GeneticVariation UNIPROT ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 22645276 2012
dbSNP: rs587777666
rs587777666
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		0.810 GeneticVariation UNIPROT Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 22068589 2012
dbSNP: rs587777666
rs587777666
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		0.810 GeneticVariation UNIPROT Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. 21441919 2011
dbSNP: rs587777666
rs587777666
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		G 0.810 CausalMutation CLINVAR
dbSNP: rs587777664
rs587777664
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 22645276 2012
dbSNP: rs587777664
rs587777664
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 22068589 2012
dbSNP: rs587777664
rs587777664
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. 21441919 2011
dbSNP: rs587777664
rs587777664
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777665
rs587777665
Entrez Id: 220202
Gene Symbol: ATOH7
ATOH7
CUI: C1969783
Disease:
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		C 0.700 CausalMutation CLINVAR