DisGeNET - a database of gene-disease associations

ATOH7, atonal bHLH transcription factor 7, 220202

N. diseases: 33; N. variants: 6

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

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

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

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C1969783
Disease:

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

0.810

CausalMutation

CLINVAR

dbSNP:

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

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

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

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C1969783
Disease:

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777665

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C1969783
Disease:

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

0.700

CausalMutation

CLINVAR

dbSNP:

rs111699024

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C0266568
Disease:

Persistent Hyperplastic Primary Vitreous

0.010

GeneticVariation

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

dbSNP:

rs111699024

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C1833798
Disease:

Optic Nerve Aplasia, Bilateral

0.010

GeneticVariation

BEFREE

The R65G allele, however, cannot explain the ONA phenotype.

22645276

2012

dbSNP:

rs587777666

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C1857299
Disease:

RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL

0.010

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

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C0266568
Disease:

Persistent Hyperplastic Primary Vitreous

0.010

GeneticVariation

BEFREE

22645276

2012

dbSNP:

rs61854782

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C0152136
Disease:

Low Tension Glaucoma

0.010

GeneticVariation

BEFREE

ATOH7 rs61854782 was associated with VCDR (P = 0.004) in controls and RFTN1 rs690037 was associated with CCT in combined POAG (HTG+NTG; P = 0.026).

22222511

2012

dbSNP:

rs61854782

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C0339573
Disease:

Glaucoma, Primary Open Angle

0.010

GeneticVariation

BEFREE

ATOH7 rs61854782 was associated with VCDR (P = 0.004) in controls and RFTN1 rs690037 was associated with CCT in combined POAG (HTG+NTG; P = 0.026).

22222511

2012

dbSNP:

rs7916697

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C0339573
Disease:

Glaucoma, Primary Open Angle

0.010

GeneticVariation

BEFREE

However, a significant interactive effect on POAG risk was identified between rs1063192 and rs7916697 (P-interaction = 2.80 × 10(-5)).

22761751

2012

dbSNP:

rs111699024

Entrez Id:	220202
Gene Symbol:	ATOH7

ATOH7

CUI:	C0456909
Disease:

Blindness

0.010

GeneticVariation

BEFREE

Direct sequencing of ATOH7 in 12 patients with optic nerve hypoplasia, one of the leading causes of blindness in children, revealed two novel non-synonymous mutations (Arg65Gly, Ala47Thr) which were not found in 90 unrelated controls (combined Fisher's exact P=0.0136).

20395239

2010