DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Leber Congenital Amaurosis ×

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:	54714
Gene Symbol:	CNGB3

CNGB3

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

GeneticVariation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

Entrez Id:	2916
Gene Symbol:	GRM6

GRM6

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

Entrez Id:	8787
Gene Symbol:	RGS9

RGS9

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

Entrez Id:	92211
Gene Symbol:	CDHR1

CDHR1

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

Entrez Id:	54714
Gene Symbol:	CNGB3

CNGB3

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Genetic basis of total colourblindness among the Pingelapese islanders.

10888875

2000

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Entrez Id:	23059
Gene Symbol:	CLUAP1

CLUAP1

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Entrez Id:	5145
Gene Symbol:	PDE6A

PDE6A

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Entrez Id:	10002
Gene Symbol:	NR2E3

NR2E3

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Entrez Id:	26058
Gene Symbol:	GIGYF2

GIGYF2

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Entrez Id:	6102
Gene Symbol:	RP2

RP2

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Entrez Id:	23503
Gene Symbol:	ZFYVE26

ZFYVE26

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

CausalMutation

CLINVAR

Entrez Id:	6102
Gene Symbol:	RP2

RP2

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	146167
Gene Symbol:	SLC38A8

SLC38A8

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.120

CausalMutation

CLINVAR

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

10090887

1999

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.120

GeneticVariation

CLINVAR

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

9781034

1998

Entrez Id:	3000
Gene Symbol:	GUCY2D

GUCY2D

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.500

GeneticVariation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

Entrez Id:	145226
Gene Symbol:	RDH12

RDH12

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.500

GeneticVariation

CLINVAR

Entrez Id:	3000
Gene Symbol:	GUCY2D

GUCY2D

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.500

CausalMutation

CLINVAR

Entrez Id:	145226
Gene Symbol:	RDH12

RDH12

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.500

CausalMutation

CLINVAR

Entrez Id:	343035
Gene Symbol:	RD3

RD3

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.600

CausalMutation

CLINVAR

Entrez Id:	3769
Gene Symbol:	KCNJ13

KCNJ13

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.650

CausalMutation

CLINVAR

Entrez Id:	7287
Gene Symbol:	TULP1

TULP1

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.660

GeneticVariation

CLINVAR

Entrez Id:	167691
Gene Symbol:	LCA5

LCA5

CUI:	C0339527
Disease:	Leber Congenital Amaurosis

Leber Congenital Amaurosis

0.680

CausalMutation

CLINVAR

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

25412400

2015