DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Low set ears ×

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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:	79053
Gene Symbol:	ALG8

ALG8

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	8289
Gene Symbol:	ARID1A

ARID1A

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.110

CausalMutation

CLINVAR

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	4508
Gene Symbol:	ATP6

ATP6

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

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:	55636
Gene Symbol:	CHD7

CHD7

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

CausalMutation

CLINVAR

Entrez Id:	23332
Gene Symbol:	CLASP1

CLASP1

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:	1400
Gene Symbol:	CRMP1

CRMP1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	9343
Gene Symbol:	EFTUD2

EFTUD2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

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

CausalMutation

CLINVAR

Entrez Id:	2121
Gene Symbol:	EVC

EVC

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

CausalMutation

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	27086
Gene Symbol:	FOXP1

FOXP1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR