DisGeNET - a database of gene-disease associations

Abnormality of the outer ear, C1846460

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

0.100

GeneticVariation

disease

CLINVAR

A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

24121961

2014

Entrez Id:	672
Gene Symbol:	BRCA1

BRCA1

0.100

Biomarker

disease

HPO

Entrez Id:	6929
Gene Symbol:	TCF3

TCF3

0.100

Biomarker

disease

HPO

Entrez Id:	10585
Gene Symbol:	POMT1

POMT1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	5332
Gene Symbol:	PLCB4

PLCB4

0.100

Biomarker

disease

HPO

Entrez Id:	57697
Gene Symbol:	FANCM

FANCM

0.100

Biomarker

disease

HPO

Entrez Id:	25942
Gene Symbol:	SIN3A

SIN3A

0.100

Biomarker

disease

HPO

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

0.100

Biomarker

disease

HPO

Entrez Id:	6495
Gene Symbol:	SIX1

SIX1

0.100

Biomarker

disease

HPO

Entrez Id:	79728
Gene Symbol:	PALB2

PALB2

0.100

Biomarker

disease

HPO

Entrez Id:	5888
Gene Symbol:	RAD51

RAD51

0.100

Biomarker

disease

HPO

Entrez Id:	51132
Gene Symbol:	RLIM

RLIM

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	5830
Gene Symbol:	PEX5

PEX5

0.100

Biomarker

disease

HPO

Entrez Id:	7703
Gene Symbol:	PCGF2

PCGF2

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	203068
Gene Symbol:	TUBB

TUBB

0.100

Biomarker

disease

HPO

Entrez Id:	2188
Gene Symbol:	FANCF

FANCF

0.100

Biomarker

disease

HPO

Entrez Id:	2177
Gene Symbol:	FANCD2

FANCD2

0.100

Biomarker

disease

HPO

Entrez Id:	55670
Gene Symbol:	PEX26

PEX26

0.100

Biomarker

disease

HPO

Entrez Id:	9723
Gene Symbol:	SEMA3E

SEMA3E

0.100

Biomarker

disease

HPO

Entrez Id:	157570
Gene Symbol:	ESCO2

ESCO2

0.100

Biomarker

disease

HPO

Entrez Id:	2138
Gene Symbol:	EYA1

EYA1

0.100

Biomarker

disease

HPO

Entrez Id:	6905
Gene Symbol:	TBCE

TBCE

0.100

Biomarker

disease

HPO

Entrez Id:	2697
Gene Symbol:	GJA1

GJA1

0.100

Biomarker

disease

HPO

Entrez Id:	1491
Gene Symbol:	CTH

CTH

0.100

Biomarker

disease

HPO

Entrez Id:	56262
Gene Symbol:	LRRC8A

LRRC8A

0.100

Biomarker

disease

HPO