DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Autistic behavior ×

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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:	2332
Gene Symbol:	FMR1

FMR1

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.170

GeneticVariation

CLINVAR

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.170

CausalMutation

CLINVAR

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.140

CausalMutation

CLINVAR

Entrez Id:	6942
Gene Symbol:	TCF20

TCF20

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	5518
Gene Symbol:	PPP2R1A

PPP2R1A

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	4693
Gene Symbol:	NDP

NDP

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

GeneticVariation

CLINVAR

Entrez Id:	22983
Gene Symbol:	MAST1

MAST1

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

GeneticVariation

CLINVAR

Entrez Id:	1788
Gene Symbol:	DNMT3A

DNMT3A

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

GeneticVariation

CLINVAR

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

GeneticVariation

CLINVAR

Entrez Id:	29911
Gene Symbol:	HOOK2

HOOK2

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

GeneticVariation

CLINVAR

Entrez Id:	54413
Gene Symbol:	NLGN3

NLGN3

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

GeneticVariation

CLINVAR

Entrez Id:	57178
Gene Symbol:	ZMIZ1

ZMIZ1

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	6448
Gene Symbol:	SGSH

SGSH

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	3054
Gene Symbol:	HCFC1

HCFC1

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR

Entrez Id:	6942
Gene Symbol:	TCF20

TCF20

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

GeneticVariation

CLINVAR

Entrez Id:	26137
Gene Symbol:	ZBTB20

ZBTB20

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

GeneticVariation

CLINVAR

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0856975
Disease:	Autistic behavior

Autistic behavior

0.100

CausalMutation

CLINVAR