DisGeNET - a database of gene-disease associations

Gene: ARMC4 ×

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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:	55130
Gene Symbol:	ARMC4

ARMC4

CUI:	C4551906
Disease:	Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

0.400

GermlineCausalMutation

ORPHANET

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

2013