DisGeNET - a database of gene-disease associations

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive, C1969783

Variant: rs587777664 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777664

ATOH7

0.800

GeneticVariation

UNIPROT

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

22645276

2012

dbSNP:

rs587777664

ATOH7

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

ATOH7

0.800

GeneticVariation

UNIPROT

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.

21441919

2011

dbSNP:

rs587777664

ATOH7

0.800

CausalMutation

CLINVAR