DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Behr syndrome ×

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:

rs143319805

OPA1

CUI:	C0221061
Disease:	Behr syndrome

Behr syndrome

0.810

GeneticVariation

UNIPROT

dbSNP:

rs879255594

OPA1

CUI:	C0221061
Disease:	Behr syndrome

Behr syndrome

0.800

GeneticVariation

UNIPROT

'Behr syndrome' with OPA1 compound heterozygote mutations.

25146916

2015

dbSNP:

rs879255594

OPA1

CUI:	C0221061
Disease:	Behr syndrome

Behr syndrome

0.800

GeneticVariation

UNIPROT

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

25012220

2014

dbSNP:

rs879255594

OPA1

CUI:	C0221061
Disease:	Behr syndrome

Behr syndrome

0.800

GeneticVariation

UNIPROT

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

21636302

2011