DisGeNET - a database of gene-disease associations

SEMA4A, semaphorin 4A, 64218

N. diseases: 141; N. variants: 5

Disease: CONE-ROD DYSTROPHY 10 ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1846529
Disease:	CONE-ROD DYSTROPHY 10

CONE-ROD DYSTROPHY 10

0.700

Biomarker

disease

GENOMICS_ENGLAND

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.

16199541

2006

CUI:	C1846529
Disease:	CONE-ROD DYSTROPHY 10

CONE-ROD DYSTROPHY 10

0.700

GeneticVariation

disease

UNIPROT

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.

16199541

2006

CUI:	C1846529
Disease:	CONE-ROD DYSTROPHY 10

CONE-ROD DYSTROPHY 10

0.700

Biomarker

disease

CTD_human

CUI:	C1846529
Disease:	CONE-ROD DYSTROPHY 10

CONE-ROD DYSTROPHY 10

0.700

CausalMutation

disease

CLINVAR

CUI:	C1846529
Disease:	CONE-ROD DYSTROPHY 10

CONE-ROD DYSTROPHY 10

0.700

Biomarker

disease

GENOMICS_ENGLAND