SEMA4A, semaphorin 4A, 64218

N. diseases: 141; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607033
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: rs267607033
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: rs267607033
rs267607033
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
CUI: C1853214
Disease:
RETINITIS PIGMENTOSA 35
C 0.800 CausalMutation CLINVAR