DisGeNET - a database of gene-disease associations

CFAP43, cilia and flagella associated protein 43, 80217

N. diseases: 7; N. variants: 10

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1131692266

rs1131692266

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

T

0.800

CausalMutation

CLINVAR

dbSNP:

rs1131692266

rs1131692266

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

0.800

GeneticVariation

UNIPROT

dbSNP:

rs147356105

rs147356105

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

G

0.800

CausalMutation

CLINVAR

dbSNP:

rs147356105

rs147356105

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

0.800

GeneticVariation

UNIPROT

dbSNP:

rs376788209

rs376788209

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

A

0.800

CausalMutation

CLINVAR

dbSNP:

rs376788209

rs376788209

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1554861288

rs1554861288

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554862953

rs1554862953

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554882484

rs1554882484

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

GA

0.700

CausalMutation

CLINVAR

dbSNP:

rs373911488

rs373911488

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs753300178

rs753300178

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs760609580

rs760609580

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs768831533

rs768831533

Entrez Id:	80217
Gene Symbol:	CFAP43

CFAP43

CUI:	C4539818
Disease:

SPERMATOGENIC FAILURE 19

A

0.700

CausalMutation

CLINVAR