DisGeNET - a database of gene-disease associations

SEMA4A, semaphorin 4A, 64218

N. diseases: 141; N. variants: 5

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267607033

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1853214
Disease:

RETINITIS PIGMENTOSA 35

0.800

GeneticVariation

UNIPROT

SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.

22956603

2012

dbSNP:

rs267607034

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1853214
Disease:

RETINITIS PIGMENTOSA 35

0.800

GeneticVariation

UNIPROT

SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.

22956603

2012

dbSNP:

rs267607033

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1846529
Disease:

CONE-ROD DYSTROPHY 10

0.800

GeneticVariation

UNIPROT

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

16199541

2006

dbSNP:

rs267607033

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1853214
Disease:

RETINITIS PIGMENTOSA 35

0.800

GeneticVariation

UNIPROT

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

16199541

2006

dbSNP:

rs267607034

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1853214
Disease:

RETINITIS PIGMENTOSA 35

0.800

GeneticVariation

UNIPROT

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

16199541

2006

dbSNP:

rs267607034

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1846529
Disease:

CONE-ROD DYSTROPHY 10

0.800

GeneticVariation

UNIPROT

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

16199541

2006

dbSNP:

rs267607033

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1853214
Disease:

RETINITIS PIGMENTOSA 35

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607033

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1846529
Disease:

CONE-ROD DYSTROPHY 10

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607034

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1846529
Disease:

CONE-ROD DYSTROPHY 10

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607034

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1853214
Disease:

RETINITIS PIGMENTOSA 35

0.800

CausalMutation

CLINVAR

dbSNP:

rs76719272

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

30224653

2018

dbSNP:

rs41265017

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C0339525
Disease:

Autosomal dominant retinitis pigmentosa

0.010

GeneticVariation

BEFREE

The p.R713Q variant in SEMA4A is insufficient to cause either autosomal recessive or autosomal dominant retinitis pigmentosa and is unlikely to be pathogenic.

28805479

2018

dbSNP:

rs763670204

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C3896578
Disease:

Familial Colorectal Cancer Type X

0.010

GeneticVariation

BEFREE

Here we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX, using an integrative genomics strategy.

25307848

2014

dbSNP:

rs267607034

Entrez Id:	64218
Gene Symbol:	SEMA4A

SEMA4A

CUI:	C1998028
Disease:

Photoreceptor degeneration

0.010

GeneticVariation

BEFREE

Furthermore, Sema4A gene transfer successfully prevents photoreceptor degeneration in Sema4A(F350C/F350C) and Sema4A(-/-) mice.

23360997

2013