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:	55252
Gene Symbol:	ASXL2

ASXL2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	93210
Gene Symbol:	PGAP3

PGAP3

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:	79770
Gene Symbol:	TXNDC15

TXNDC15

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	1400
Gene Symbol:	CRMP1

CRMP1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	6909
Gene Symbol:	TBX2

TBX2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	27086
Gene Symbol:	FOXP1

FOXP1

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

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:	2263
Gene Symbol:	FGFR2

FGFR2

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:	2121
Gene Symbol:	EVC

EVC

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	9343
Gene Symbol:	EFTUD2

EFTUD2

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	79644
Gene Symbol:	SRD5A3

SRD5A3

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

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:	55023
Gene Symbol:	PHIP

PHIP

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

GeneticVariation

CLINVAR

Entrez Id:	57479
Gene Symbol:	PRR12

PRR12

CUI:	C0239234
Disease:	Low set ears

Low set ears

0.100

CausalMutation

CLINVAR