DisGeNET - a database of gene-disease associations

Source: ALL

Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC ×

Gene: NEFH ×

Results per page

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:	4744
Gene Symbol:	NEFH

NEFH

CUI:	C4310790
Disease:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

0.600

CausalMutation

CLINVAR

Entrez Id:	4744
Gene Symbol:	NEFH

NEFH

CUI:	C4310790
Disease:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

0.600

Biomarker

CTD_human

Entrez Id:	4744
Gene Symbol:	NEFH

NEFH

CUI:	C4310790
Disease:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

0.600

Biomarker

GENOMICS_ENGLAND

Entrez Id:	4744
Gene Symbol:	NEFH

NEFH

CUI:	C4310790
Disease:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

0.600

Biomarker

GENOMICS_ENGLAND