DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Impaired cognition ×

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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:	5654
Gene Symbol:	HTRA1

HTRA1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.410

GeneticVariation

CLINVAR

Entrez Id:	2904
Gene Symbol:	GRIN2B

GRIN2B

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.190

GeneticVariation

CLINVAR

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.140

CausalMutation

CLINVAR

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.120

CausalMutation

CLINVAR

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.120

CausalMutation

CLINVAR

Entrez Id:	3035
Gene Symbol:	HARS1

HARS1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.110

GeneticVariation

CLINVAR

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.110

CausalMutation

CLINVAR

Entrez Id:	4864
Gene Symbol:	NPC1

NPC1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.110

CausalMutation

CLINVAR

Entrez Id:	3778
Gene Symbol:	KCNMA1

KCNMA1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.110

CausalMutation

CLINVAR

Entrez Id:	2259
Gene Symbol:	FGF14

FGF14

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.110

GeneticVariation

CLINVAR

Entrez Id:	54082
Gene Symbol:	TSPEAR-AS1

TSPEAR-AS1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

GeneticVariation

CLINVAR

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

27736875

2016

Entrez Id:	54084
Gene Symbol:	TSPEAR

TSPEAR

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

GeneticVariation

CLINVAR

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

27736875

2016

Entrez Id:	100533467
Gene Symbol:	BIVM-ERCC5

BIVM-ERCC5

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

GeneticVariation

CLINVAR

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	54499
Gene Symbol:	TMCO1

TMCO1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

GeneticVariation

CLINVAR

Entrez Id:	2073
Gene Symbol:	ERCC5

ERCC5

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

GeneticVariation

CLINVAR

Entrez Id:	134218
Gene Symbol:	DNAJC21

DNAJC21

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	2895
Gene Symbol:	GRID2

GRID2

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	7157
Gene Symbol:	TP53

TP53

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR

Entrez Id:	101929328
Gene Symbol:	KCNMA1-AS1

KCNMA1-AS1

CUI:	C0338656
Disease:	Impaired cognition

Impaired cognition

0.100

CausalMutation

CLINVAR