DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Cupped ears (finding) ×

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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:	80816
Gene Symbol:	ASXL3

ASXL3

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

CausalMutation

CLINVAR

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

27075689

2016

Entrez Id:	6909
Gene Symbol:	TBX2

TBX2

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	1663
Gene Symbol:	DDX11

DDX11

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	6909
Gene Symbol:	TBX2

TBX2

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

CausalMutation

CLINVAR

Entrez Id:	84992
Gene Symbol:	PIGY

PIGY

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	1108
Gene Symbol:	CHD4

CHD4

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	23556
Gene Symbol:	PIGN

PIGN

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	54870
Gene Symbol:	QRICH1

QRICH1

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	25942
Gene Symbol:	SIN3A

SIN3A

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	27315
Gene Symbol:	PGAP2

PGAP2

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	6611
Gene Symbol:	SMS

SMS

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	668
Gene Symbol:	FOXL2

FOXL2

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	9723
Gene Symbol:	SEMA3E

SEMA3E

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	1909
Gene Symbol:	EDNRA

EDNRA

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

CausalMutation

CLINVAR

Entrez Id:	1723
Gene Symbol:	DHODH

DHODH

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	55650
Gene Symbol:	PIGV

PIGV

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	51339
Gene Symbol:	DACT1

DACT1

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	3476
Gene Symbol:	IGBP1

IGBP1

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	284098
Gene Symbol:	PIGW

PIGW

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

CausalMutation

CLINVAR

Entrez Id:	84720
Gene Symbol:	PIGO

PIGO

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	9487
Gene Symbol:	PIGL

PIGL

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO

Entrez Id:	53335
Gene Symbol:	BCL11A

BCL11A

CUI:	C1845447
Disease:	Cupped ears (finding)

Cupped ears (finding)

0.100

Biomarker

HPO