DisGeNET - a database of gene-disease associations

Gene: L1CAM ×

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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:	3897
Gene Symbol:	L1CAM

L1CAM

CUI:	C0265216
Disease:	X-linked hydrocephalus syndrome

X-linked hydrocephalus syndrome

1.000

Biomarker

RGD

The authors used this method to generate a transgenic rat L1cam knockout model of X-linked hydrocephalus (XLH) with human genetic etiology.

2019