DisGeNET - a database of gene-disease associations

UPF3A, UPF3A regulator of nonsense mediated mRNA decay, 65110

N. diseases: 3; N. variants: 2

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs112998813

1.000

0.120

114294254

intron variant

T/C

snv

6.8E-02

CUI:	C0152268
Disease:	Nodular Sclerosis Classical Hodgkin Lymphoma

Nodular Sclerosis Classical Hodgkin Lymphoma

Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases

0.700

1.000

2017

dbSNP:

rs3752105

114281830

missense variant

G/A;C

snv

0.23; 2.7E-05

CUI:	C0007222
Disease:	Cardiovascular Diseases

Cardiovascular Diseases

0.700

1.000

2019