DisGeNET - a database of gene-disease associations

Source: MGD

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

Gene: DHTKD1 ×

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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:	55526
Gene Symbol:	DHTKD1

DHTKD1

CUI:	C3554366
Disease:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q

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

0.900

Biomarker

MGD

DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.

2018