DisGeNET - a database of gene-disease associations

Gene: CFAP43 ×

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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:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:	SPERMATOGENIC FAILURE 19

SPERMATOGENIC FAILURE 19

0.800

Biomarker

MGD

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.

2017