DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Nystagmus, CTCAE 3.0 ×

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:	144568
Gene Symbol:	A2ML1

A2ML1

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	16
Gene Symbol:	AARS1

AARS1

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	57505
Gene Symbol:	AARS2

AARS2

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	22
Gene Symbol:	ABCB7

ABCB7

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	26090
Gene Symbol:	ABHD12

ABHD12

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.400

Biomarker

GENOMICS_ENGLAND

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

2014

Entrez Id:	26090
Gene Symbol:	ABHD12

ABHD12

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.400

Biomarker

HPO

Entrez Id:	51099
Gene Symbol:	ABHD5

ABHD5

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	50
Gene Symbol:	ACO2

ACO2

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	51
Gene Symbol:	ACOX1

ACOX1

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	51412
Gene Symbol:	ACTL6B

ACTL6B

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	54507
Gene Symbol:	ADAMTSL4

ADAMTSL4

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	120
Gene Symbol:	ADD3

ADD3

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	9289
Gene Symbol:	ADGRG1

ADGRG1

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	84059
Gene Symbol:	ADGRV1

ADGRV1

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	54936
Gene Symbol:	ADPRS

ADPRS

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	158
Gene Symbol:	ADSL

ADSL

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	10939
Gene Symbol:	AFG3L2

AFG3L2

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	60509
Gene Symbol:	AGBL5

AGBL5

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	55750
Gene Symbol:	AGK

AGK

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	375790
Gene Symbol:	AGRN

AGRN

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	23287
Gene Symbol:	AGTPBP1

AGTPBP1

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO

Entrez Id:	196
Gene Symbol:	AHR

AHR

CUI:	C1963184
Disease:	Nystagmus, CTCAE 3.0

Nystagmus, CTCAE 3.0

0.100

Biomarker

HPO