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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	339400
Gene Symbol:	FLG-AS1

FLG-AS1

FLG antisense RNA 1

0.700

0.538

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

MKS transition zone complex subunit 1

0.505

0.769

3.4E-16

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	54714
Gene Symbol:	CNGB3

CNGB3

cyclic nucleotide gated channel subunit beta 3

0.633

0.192

7.8E-19

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

MAGE family member L2

0.560

0.654

0.98

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	51091
Gene Symbol:	SEPSECS

SEPSECS

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

0.656

0.423

1.6E-08

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	5015
Gene Symbol:	OTX2

OTX2

orthodenticle homeobox 2

0.514

0.808

0.92

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	4983
Gene Symbol:	OPHN1

OPHN1

oligophrenin 1

0.633

0.538

1.00

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	4693
Gene Symbol:	NDP

NDP

norrin cystine knot growth factor NDP

0.566

0.692

0.65

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	4644
Gene Symbol:	MYO5A

MYO5A

myosin VA

0.628

0.615

0.94

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	3796
Gene Symbol:	KIF2A

KIF2A

kinesin family member 2A

0.590

0.731

1.00

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

kinesin family member 7

0.528

0.731

2.3E-22

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

NPHP3-ACAD11 readthrough (NMD candidate)

0.663

0.577

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

disease

0.100

None