DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Optic Atrophy ×

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:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

GeneticVariation

CLINVAR

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

2017

Entrez Id:	55670
Gene Symbol:	PEX26

PEX26

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	6094
Gene Symbol:	ROM1

ROM1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	760
Gene Symbol:	CA2

CA2

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	55975
Gene Symbol:	KLHL7

KLHL7

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	27077
Gene Symbol:	B9D1

B9D1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	5981
Gene Symbol:	RFC1

RFC1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

GeneticVariation

CLINVAR

Entrez Id:	4564
Gene Symbol:	TRNH

TRNH

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	29925
Gene Symbol:	GMPPB

GMPPB

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	28952
Gene Symbol:	CCDC22

CCDC22

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	4574
Gene Symbol:	TRNS1

TRNS1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	1967
Gene Symbol:	EIF2B1

EIF2B1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	4539
Gene Symbol:	ND4L

ND4L

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	388939
Gene Symbol:	PCARE

PCARE

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	64374
Gene Symbol:	SIL1

SIL1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	4570
Gene Symbol:	TRNN

TRNN

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	5995
Gene Symbol:	RGR

RGR

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	6341
Gene Symbol:	SCO1

SCO1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	9129
Gene Symbol:	PRPF3

PRPF3

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	7469
Gene Symbol:	NELFA

NELFA

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO