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:	8289
Gene Symbol:	ARID1A

ARID1A

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.110

CausalMutation

CLINVAR

Entrez Id:	10735
Gene Symbol:	STAG2

STAG2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	7703
Gene Symbol:	PCGF2

PCGF2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	28952
Gene Symbol:	CCDC22

CCDC22

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	5979
Gene Symbol:	RET

RET

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	4297
Gene Symbol:	KMT2A

KMT2A

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	23556
Gene Symbol:	PIGN

PIGN

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	10082
Gene Symbol:	GPC6

GPC6

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	79796
Gene Symbol:	ALG9

ALG9

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	117581
Gene Symbol:	TWIST2

TWIST2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	11285
Gene Symbol:	B4GALT7

B4GALT7

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	5915
Gene Symbol:	RARB

RARB

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	1134
Gene Symbol:	CHRNA1

CHRNA1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	4081
Gene Symbol:	MAB21L1

MAB21L1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	5048
Gene Symbol:	PAFAH1B1

PAFAH1B1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	246329
Gene Symbol:	STAC3

STAC3

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	4297
Gene Symbol:	KMT2A

KMT2A

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	2972
Gene Symbol:	BRF1

BRF1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	79053
Gene Symbol:	ALG8

ALG8

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	1108
Gene Symbol:	CHD4

CHD4

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	8493
Gene Symbol:	PPM1D

PPM1D

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO

Entrez Id:	10013
Gene Symbol:	HDAC6

HDAC6

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

Biomarker

HPO