DisGeNET - a database of gene-disease associations

rs80338934, SH3TC2

N. diseases: 4

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C

CUI:	C1866636
Disease:	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C

27

0.882

0.080

5

149010272

stop gained

G/A

snv

4.0E-05

3.5E-05

0.710

1.000

2005

2019

Charcot-Marie-Tooth disease type 4

CUI:	C4082197
Disease:	Charcot-Marie-Tooth disease type 4

77

0.882

0.080

5

149010272

stop gained

G/A

snv

4.0E-05

3.5E-05

0.710

1.000

2005

2016

Charcot-Marie-Tooth Disease

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

136

0.882

0.080

5

149010272

stop gained

G/A

snv

4.0E-05

3.5E-05

0.010

1.000

2013

2013

Hereditary Motor and Sensory Neuropathies

CUI:	C0027888
Disease:	Hereditary Motor and Sensory Neuropathies

11

0.882

0.080

5

149010272

stop gained

G/A

snv

4.0E-05

3.5E-05

0.010

1.000

2013

2013