DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Nystagmus ×

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:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

17603483

2007

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

17603482

2007

Entrez Id:	1123
Gene Symbol:	CHN1

CHN1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	5192
Gene Symbol:	PEX10

PEX10

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	4577
Gene Symbol:	TRNV

TRNV

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	7516
Gene Symbol:	XRCC2

XRCC2

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	8546
Gene Symbol:	AP3B1

AP3B1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	6323
Gene Symbol:	SCN1A

SCN1A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	55670
Gene Symbol:	PEX26

PEX26

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	7532
Gene Symbol:	YWHAG

YWHAG

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	26275
Gene Symbol:	HIBCH

HIBCH

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	3708
Gene Symbol:	ITPR1

ITPR1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	2961
Gene Symbol:	GTF2E2

GTF2E2

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	4537
Gene Symbol:	ND3

ND3

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	5828
Gene Symbol:	PEX2

PEX2

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	60529
Gene Symbol:	ALX4

ALX4

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	6843
Gene Symbol:	VAMP1

VAMP1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO

Entrez Id:	55187
Gene Symbol:	VPS13D

VPS13D

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

Biomarker

HPO