DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Nystagmus ×

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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:	81570
Gene Symbol:	CLPB

CLPB

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	54714
Gene Symbol:	CNGB3

CNGB3

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	2290
Gene Symbol:	FOXG1

FOXG1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	51091
Gene Symbol:	SEPSECS

SEPSECS

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	6010
Gene Symbol:	RHO

RHO

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	9091
Gene Symbol:	PIGQ

PIGQ

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	9711
Gene Symbol:	RUBCN

RUBCN

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	27292
Gene Symbol:	DIMT1

DIMT1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	27241
Gene Symbol:	BBS9

BBS9

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	6573
Gene Symbol:	SLC19A1

SLC19A1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	79583
Gene Symbol:	TMEM231

TMEM231

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	9786
Gene Symbol:	KIAA0586

KIAA0586

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	2581
Gene Symbol:	GALC

GALC

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	2312
Gene Symbol:	FLG

FLG

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	5015
Gene Symbol:	OTX2

OTX2

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	56997
Gene Symbol:	COQ8A

COQ8A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	23162
Gene Symbol:	MAPK8IP3

MAPK8IP3

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	823
Gene Symbol:	CAPN1

CAPN1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	6448
Gene Symbol:	SGSH

SGSH

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR