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:	3339
Gene Symbol:	HSPG2

HSPG2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

27668699

2017

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	79770
Gene Symbol:	TXNDC15

TXNDC15

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	8398
Gene Symbol:	PLA2G6

PLA2G6

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	5015
Gene Symbol:	OTX2

OTX2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	6323
Gene Symbol:	SCN1A

SCN1A

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	3190
Gene Symbol:	HNRNPK

HNRNPK

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	101929680
Gene Symbol:	SCN1A-AS1

SCN1A-AS1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	9990
Gene Symbol:	SLC12A6

SLC12A6

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	7703
Gene Symbol:	PCGF2

PCGF2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	23332
Gene Symbol:	CLASP1

CLASP1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

28807008

2017

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	2121
Gene Symbol:	EVC

EVC

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR