DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Low set ears ×

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:	6888
Gene Symbol:	TALDO1

TALDO1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	9853
Gene Symbol:	RUSC2

RUSC2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	4763
Gene Symbol:	NF1

NF1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	22858
Gene Symbol:	CILK1

CILK1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	3339
Gene Symbol:	HSPG2

HSPG2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	9731
Gene Symbol:	CEP104

CEP104

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	57724
Gene Symbol:	EPG5

EPG5

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	650
Gene Symbol:	BMP2

BMP2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	29957
Gene Symbol:	SLC25A24

SLC25A24

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	64220
Gene Symbol:	STRA6

STRA6

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	65062
Gene Symbol:	TMEM237

TMEM237

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	23162
Gene Symbol:	MAPK8IP3

MAPK8IP3

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	55670
Gene Symbol:	PEX26

PEX26

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	2317
Gene Symbol:	FLNB

FLNB

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	83483
Gene Symbol:	PLVAP

PLVAP

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	55714
Gene Symbol:	TENM3

TENM3

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	5373
Gene Symbol:	PMM2

PMM2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	4882
Gene Symbol:	NPR2

NPR2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	84153
Gene Symbol:	RNASEH2C

RNASEH2C

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	5192
Gene Symbol:	PEX10

PEX10

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	3339
Gene Symbol:	HSPG2

HSPG2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO