DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs121917834, SFTPC

N. diseases: 10

Disease: Usual Interstitial Pneumonia ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Usual Interstitial Pneumonia

CUI:	C4721509
Disease:	Usual Interstitial Pneumonia

0.010

GeneticVariation

BEFREE

A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation.

20371530

2010