DisGeNET - a database of gene-disease associations

rs777516785, USP11

N. diseases: 5

Source: CURATED ×

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.

Abnormal ciliary motility

CUI:	C4022983
Disease:	Abnormal ciliary motility

5

0.882

0.120

X

47242504

synonymous variant

G/A

snv

1.1E-05

0.700

Absent inner and outer dynein arms

CUI:	C4022986
Disease:	Absent inner and outer dynein arms

2

0.882

0.120

X

47242504

synonymous variant

G/A

snv

1.1E-05

0.700

Bronchiectasis

CUI:	C0006267
Disease:	Bronchiectasis

8

0.882

0.120

X

47242504

synonymous variant

G/A

snv

1.1E-05

0.700

Dynein arm defect of respiratory motile cilia

CUI:	C4022990
Disease:	Dynein arm defect of respiratory motile cilia

2

0.882

0.120

X

47242504

synonymous variant

G/A

snv

1.1E-05

0.700

Situs inversus totalis

CUI:	C4551493
Disease:	Situs inversus totalis

8

0.882

0.120

X

47242504

synonymous variant

G/A

snv

1.1E-05

0.700