DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Cataract ×

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:	80207
Gene Symbol:	OPA3

OPA3

CUI:	C0086543
Disease:	Cataract

Cataract

0.150

Biomarker

HPO

Entrez Id:	4094
Gene Symbol:	MAF

MAF

CUI:	C0086543
Disease:	Cataract

Cataract

0.150

Biomarker

HPO

Entrez Id:	4016
Gene Symbol:	LOXL1

LOXL1

CUI:	C0086543
Disease:	Cataract

Cataract

0.150

Biomarker

HPO

Entrez Id:	4952
Gene Symbol:	OCRL

OCRL

CUI:	C0086543
Disease:	Cataract

Cataract

0.150

Biomarker

HPO

Entrez Id:	2512
Gene Symbol:	FTL

FTL

CUI:	C0086543
Disease:	Cataract

Cataract

0.150

Biomarker

HPO

Entrez Id:	1282
Gene Symbol:	COL4A1

COL4A1

CUI:	C0086543
Disease:	Cataract

Cataract

0.140

Biomarker

HPO

Entrez Id:	1413
Gene Symbol:	CRYBA4

CRYBA4

CUI:	C0086543
Disease:	Cataract

Cataract

0.140

Biomarker

HPO

Entrez Id:	26090
Gene Symbol:	ABHD12

ABHD12

CUI:	C0086543
Disease:	Cataract

Cataract

0.140

CausalMutation

CLINVAR

Entrez Id:	2301
Gene Symbol:	FOXE3

FOXE3

CUI:	C0086543
Disease:	Cataract

Cataract

0.130

Biomarker

HPO

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

CUI:	C0086543
Disease:	Cataract

Cataract

0.130

Biomarker

HPO

Entrez Id:	1760
Gene Symbol:	DMPK

DMPK

CUI:	C0086543
Disease:	Cataract

Cataract

0.130

Biomarker

HPO

Entrez Id:	387700
Gene Symbol:	SLC16A12

SLC16A12

CUI:	C0086543
Disease:	Cataract

Cataract

0.130

Biomarker

HPO

Entrez Id:	3586
Gene Symbol:	IL10

IL10

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	10682
Gene Symbol:	EBP

EBP

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	4976
Gene Symbol:	OPA1

OPA1

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	182
Gene Symbol:	JAG1

JAG1

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	4810
Gene Symbol:	NHS

NHS

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

CausalMutation

CLINVAR

Entrez Id:	55699
Gene Symbol:	IARS2

IARS2

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

CausalMutation

CLINVAR

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

25130867

2014

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	2697
Gene Symbol:	GJA1

GJA1

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO

Entrez Id:	81570
Gene Symbol:	CLPB

CLPB

CUI:	C0086543
Disease:	Cataract

Cataract

0.120

Biomarker

HPO