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:	3020
Gene Symbol:	H3-3A

H3-3A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	3796
Gene Symbol:	KIF2A

KIF2A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	4693
Gene Symbol:	NDP

NDP

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	4644
Gene Symbol:	MYO5A

MYO5A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	93627
Gene Symbol:	TBCK

TBCK

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	51091
Gene Symbol:	SEPSECS

SEPSECS

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	7020
Gene Symbol:	TFAP2A

TFAP2A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	4983
Gene Symbol:	OPHN1

OPHN1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	80781
Gene Symbol:	COL18A1

COL18A1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	79644
Gene Symbol:	SRD5A3

SRD5A3

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	79641
Gene Symbol:	ROGDI

ROGDI

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	23064
Gene Symbol:	SETX

SETX

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	6857
Gene Symbol:	SYT1

SYT1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	7299
Gene Symbol:	TYR

TYR

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

GeneticVariation

CLINVAR

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR

Entrez Id:	10847
Gene Symbol:	SRCAP

SRCAP

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.100

CausalMutation

CLINVAR