DisGeNET - a database of gene-disease associations

rs1057518946, GJB1

N. diseases: 8

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.

Contracture of tendo achilles

CUI:	C0410264
Disease:	Contracture of tendo achilles

6

0.882

0.080

X

71223816

missense variant

G/T

snv

0.700

Distal sensory impairment

CUI:	C1847584
Disease:	Distal sensory impairment

5

0.882

0.080

X

71223816

missense variant

G/T

snv

0.700

Hammer Toe

CUI:	C1136179
Disease:	Hammer Toe

11

0.882

0.080

X

71223816

missense variant

G/T

snv

0.700

Pain

CUI:	C0030193
Disease:	Pain

196

0.882

0.080

X

71223816

missense variant

G/T

snv

0.700

Progressive distal muscle weakness

CUI:	C1836609
Disease:	Progressive distal muscle weakness

4

0.882

0.080

X

71223816

missense variant

G/T

snv

0.700

Progressive distal muscular atrophy

CUI:	C4024613
Disease:	Progressive distal muscular atrophy

1

0.882

0.080

X

71223816

missense variant

G/T

snv

0.700

Reduced tendon reflexes

CUI:	C1866934
Disease:	Reduced tendon reflexes

8

0.882

0.080

X

71223816

missense variant

G/T

snv

0.700

Talipes cavus equinovarus

CUI:	C1832342
Disease:	Talipes cavus equinovarus

1

0.882

0.080

X

71223816

missense variant

G/T

snv

0.700