DisGeNET - a database of gene-disease associations

Delayed CNS myelination, C4021758

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:

rs779027563

rs779027563

CNTNAP1

C

0.700

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

2017

dbSNP:

rs114925667

rs114925667

UBA5 ; NPHP3-ACAD11

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553770577

rs1553770577

UBA5 ; NPHP3-ACAD11

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs267606826

rs267606826

FOXG1

A

0.700

CausalMutation

CLINVAR