DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Respiratory Distress Syndrome, Newborn ×

Gene: ABCA3 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0035220
Disease:	Respiratory Distress Syndrome, Newborn

Respiratory Distress Syndrome, Newborn

0.400

GeneticVariation

ORPHANET

Lung disease caused by ABCA3 mutations.

2017