DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Delayed CNS myelination ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C4021758
Disease:	Delayed CNS myelination

Delayed CNS myelination

0.100

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

CUI:	C4021758
Disease:	Delayed CNS myelination

Delayed CNS myelination

0.100

CausalMutation

CLINVAR

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

CUI:	C4021758
Disease:	Delayed CNS myelination

Delayed CNS myelination

0.100

GeneticVariation

CLINVAR

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

CUI:	C4021758
Disease:	Delayed CNS myelination

Delayed CNS myelination

0.100

GeneticVariation

CLINVAR

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

CUI:	C4021758
Disease:	Delayed CNS myelination

Delayed CNS myelination

0.100

CausalMutation

CLINVAR

Entrez Id:	2290
Gene Symbol:	FOXG1

FOXG1

CUI:	C4021758
Disease:	Delayed CNS myelination

Delayed CNS myelination

0.100

CausalMutation

CLINVAR