DisGeNET - a database of gene-disease associations

Charcot-Marie-Tooth disease type 4, C4082197

Variant: rs80338930 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80338930

SH3TC2

0.700

CausalMutation

CLINVAR

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

23553667

2013

dbSNP:

rs80338930

SH3TC2

0.700

CausalMutation

CLINVAR

High frequency of SH3TC2 mutations in Czech HMSN I patients.

21291453

2011

dbSNP:

rs80338930

SH3TC2

0.700

CausalMutation

CLINVAR

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.

20826437

2010

dbSNP:

rs80338930

SH3TC2

0.700

CausalMutation

CLINVAR

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.

20028792

2010

dbSNP:

rs80338930

SH3TC2

0.700

CausalMutation

CLINVAR

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

16924012

2006