DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: ACNE INVERSA, FAMILIAL, 3 ×

Gene: PSEN1 ×

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:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C3151038
Disease:	ACNE INVERSA, FAMILIAL, 3

ACNE INVERSA, FAMILIAL, 3

0.400

Biomarker

GENOMICS_ENGLAND

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

22503161

2012

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C3151038
Disease:	ACNE INVERSA, FAMILIAL, 3

ACNE INVERSA, FAMILIAL, 3

0.400

Biomarker

GENOMICS_ENGLAND

The genetics of Alzheimer disease.

23028126

2012

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C3151038
Disease:	ACNE INVERSA, FAMILIAL, 3

ACNE INVERSA, FAMILIAL, 3

0.400

Biomarker

GENOMICS_ENGLAND

Gamma-secretase gene mutations in familial acne inversa.

20929727

2010

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C3151038
Disease:	ACNE INVERSA, FAMILIAL, 3

ACNE INVERSA, FAMILIAL, 3

0.400

Biomarker

GENOMICS_ENGLAND

Gamma-secretase gene mutations in familial acne inversa.

20929727

2010

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C3151038
Disease:	ACNE INVERSA, FAMILIAL, 3

ACNE INVERSA, FAMILIAL, 3

0.400

Biomarker

GENOMICS_ENGLAND

Gamma-secretase gene mutations in familial acne inversa.

20929727

2010