DisGeNET - a database of gene-disease associations

rs145770066, MIR6800;MED25

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 2B2

CUI:	C1854150
Disease:	Charcot-Marie-Tooth disease, Type 2B2

1

0.882

0.080

19

49830790

missense variant

C/T

snv

3.8E-03

4.3E-03

0.800

1.000

2009

2009

Charcot-Marie-Tooth Disease

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

136

0.882

0.080

19

49830790

missense variant

C/T

snv

3.8E-03

4.3E-03

0.710

1.000

2009

2009

Charcot-Marie-Tooth disease, Type 2B1

CUI:	C1854154
Disease:	Charcot-Marie-Tooth disease, Type 2B1

6

0.882

0.080

19

49830790

missense variant

C/T

snv

3.8E-03

4.3E-03

0.700

Neuropathy

CUI:	C0442874
Disease:	Neuropathy

110

0.882

0.080

19

49830790

missense variant

C/T

snv

3.8E-03

4.3E-03

0.010

1.000

2009

2009