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 |
|
|
|
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 |
Corneal Opacity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Esotropia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hydrophthalmos
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hyphema
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Microphthalmos
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cataract
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Posterior synechiae
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Leukocoria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Retinal fold (finding)
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Microcornea
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|