DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Delayed 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:	57192
Gene Symbol:	MCOLN1

MCOLN1

CUI:	C1277241
Disease:	Delayed myelination

Delayed myelination

0.100

GeneticVariation

CLINVAR

Entrez Id:	112939
Gene Symbol:	NACC1

NACC1

CUI:	C1277241
Disease:	Delayed myelination

Delayed myelination

0.100

CausalMutation

CLINVAR

Entrez Id:	57728
Gene Symbol:	WDR19

WDR19

CUI:	C1277241
Disease:	Delayed myelination

Delayed myelination

0.100

GeneticVariation

CLINVAR

Entrez Id:	26750
Gene Symbol:	RPS6KC1

RPS6KC1

CUI:	C1277241
Disease:	Delayed myelination

Delayed myelination

0.100

GeneticVariation

CLINVAR