DisGeNET - a database of gene-disease associations

Gene: SH3TC2 ×

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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:	79628
Gene Symbol:	SH3TC2

SH3TC2

CUI:	C1408174
Disease:	Hypertrophic neuropathy of infancy

Hypertrophic neuropathy of infancy

0.200

Biomarker

MGD

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.

2009