Source: ALL
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
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
0.520 GeneticVariation disease BEFREE Previous studies have identified several mutations in the ATOH7 locus in cases of eye developmental diseases such as nonsyndromic congenital retinal nonattachment and persistent hyperplasia of the primary vitreous. 31696227 2020
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
0.520 GeneticVariation disease BEFREE To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). 28192794 2017
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
0.520 GermlineCausalMutation disease ORPHANET ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 22645276 2012
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
0.520 Biomarker disease CTD_human
Persistent Hyperplastic Primary Vitreous
0.410 GermlineCausalMutation disease ORPHANET We identified a homozygous ATOH7 mutation (N46H) in a large family with an autosomal recessive PHPV disease trait linked to 10q21, and a heterozygous variant (R65G, p.Arg65Gly) in one of five sporadic ONA patients. 22645276 2012
Persistent Hyperplastic Primary Vitreous
0.410 GeneticVariation disease BEFREE We identified a homozygous ATOH7 mutation (N46H) in a large family with an autosomal recessive PHPV disease trait linked to 10q21, and a heterozygous variant (R65G, p.Arg65Gly) in one of five sporadic ONA patients. 22645276 2012
Persistent Hyperplastic Primary Vitreous
0.410 Biomarker disease HPO
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7
0.300 GermlineCausalMutation disease ORPHANET Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 22068589 2012
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
0.100 Biomarker phenotype HPO
CUI: C0014877
Disease: Esotropia
Esotropia
0.100 Biomarker disease HPO
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
0.100 Biomarker disease HPO
CUI: C0020581
Disease: Hyphema
Hyphema
0.100 Biomarker phenotype HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease HPO
CUI: C0152253
Disease: Posterior synechiae
Posterior synechiae
0.100 Biomarker disease HPO
CUI: C0152458
Disease: Leukocoria
Leukocoria
0.100 Biomarker disease HPO
CUI: C0229197
Disease: Retinal fold (finding)
Retinal fold (finding)
0.100 Biomarker phenotype HPO
CUI: C0266544
Disease: Microcornea
Microcornea
0.100 Biomarker disease HPO