DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Recurrent otitis media ×

The Variant filter does not apply in GDA tabs

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:	10522
Gene Symbol:	DEAF1

DEAF1

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

GeneticVariation

CLINVAR

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

28940898

2017

Entrez Id:	23498
Gene Symbol:	HAAO

HAAO

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

CausalMutation

CLINVAR

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

28792876

2017

Entrez Id:	10522
Gene Symbol:	DEAF1

DEAF1

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

GeneticVariation

CLINVAR

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

28213671

2017

Entrez Id:	86
Gene Symbol:	ACTL6A

ACTL6A

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

GeneticVariation

CLINVAR

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

GeneticVariation

CLINVAR

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

CausalMutation

CLINVAR

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

CausalMutation

CLINVAR

Entrez Id:	8701
Gene Symbol:	DNAH11

DNAH11

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

GeneticVariation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

CausalMutation

CLINVAR

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

CausalMutation

CLINVAR

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

0.100

CausalMutation

CLINVAR