DisGeNET - a database of gene-disease associations

Gene: CFAP221 ×

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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:	200373
Gene Symbol:	CFAP221

CFAP221

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

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

0.300

GermlineCausalMutation

ORPHANET

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.

2020