DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: SPERMATOGENIC FAILURE 10 ×

Gene: SEPTIN12 ×

Results per page

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:	124404
Gene Symbol:	SEPTIN12

SEPTIN12

CUI:	C3553793
Disease:	SPERMATOGENIC FAILURE 10

SPERMATOGENIC FAILURE 10

0.600

GeneticVariation

UNIPROT

SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells.

25775403

2015

Entrez Id:	124404
Gene Symbol:	SEPTIN12

SEPTIN12

CUI:	C3553793
Disease:	SPERMATOGENIC FAILURE 10

SPERMATOGENIC FAILURE 10

0.600

GeneticVariation

UNIPROT

SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins.

25588830

2015

Entrez Id:	124404
Gene Symbol:	SEPTIN12

SEPTIN12

CUI:	C3553793
Disease:	SPERMATOGENIC FAILURE 10

SPERMATOGENIC FAILURE 10

0.600

GeneticVariation

UNIPROT

SEPT12 mutations cause male infertility with defective sperm annulus.

22275165

2012