DisGeNET - a database of gene-disease associations

SUN5, Sad1 and UNC84 domain containing 5, 140732

N. diseases: 10; N. variants: 13

Disease: SPERMATOGENIC FAILURE 16 ×

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:

rs754130052

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.

29298896

2018

dbSNP:

rs886041023

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.

29298896

2018

dbSNP:

rs886041024

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.

29298896

2018

dbSNP:

rs754130052

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Homozygous deletion of SUN5 in three men with decapitated spermatozoa.

28541472

2017

dbSNP:

rs754130052

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Essential role for SUN5 in anchoring sperm head to the tail.

28945193

2017

dbSNP:

rs886041023

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Homozygous deletion of SUN5 in three men with decapitated spermatozoa.

28541472

2017

dbSNP:

rs886041023

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Essential role for SUN5 in anchoring sperm head to the tail.

28945193

2017

dbSNP:

rs886041024

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Essential role for SUN5 in anchoring sperm head to the tail.

28945193

2017

dbSNP:

rs886041024

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Homozygous deletion of SUN5 in three men with decapitated spermatozoa.

28541472

2017

dbSNP:

rs754130052

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.

27640305

2016

dbSNP:

rs886041023

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.

27640305

2016

dbSNP:

rs886041024

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.

27640305

2016

dbSNP:

rs754130052

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

CausalMutation

CLINVAR

dbSNP:

rs756459525

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

CausalMutation

CLINVAR

dbSNP:

rs756459525

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

GeneticVariation

UNIPROT

dbSNP:

rs886041023

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

CausalMutation

CLINVAR

dbSNP:

rs886041024

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.800

CausalMutation

CLINVAR

dbSNP:

rs758335571

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.700

GeneticVariation

UNIPROT

dbSNP:

rs781693813

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.700

CausalMutation

CLINVAR

dbSNP:

rs886041025

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.700

CausalMutation

CLINVAR

dbSNP:

rs772515844

Entrez Id:	140732
Gene Symbol:	SUN5

SUN5

CUI:	C4310674
Disease:

SPERMATOGENIC FAILURE 16

0.010

GeneticVariation

BEFREE

Here, we report a new SUN5 mutation (c.475C→T; p.Arg159*), and explore the pathogenic effects of all known <i>SUN5</i> mutations on acephalic spermatozoa syndrome.

29298896

2018