DisGeNET - a database of gene-disease associations

Microphthalmia, Syndromic 3, C1859773

Variant: rs104893805 ×

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:

rs104893805

rs104893805

SOX2 ; SOX2-OT

0.800

GeneticVariation

UNIPROT

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

2014

dbSNP:

rs104893805

rs104893805

SOX2 ; SOX2-OT

0.800

GeneticVariation

UNIPROT

Mutations in SOX2 cause anophthalmia.

2003

dbSNP:

rs104893805

rs104893805

SOX2 ; SOX2-OT

C

0.800

CausalMutation

CLINVAR