GRPR, gastrin releasing peptide receptor, 2925

N. diseases: 85; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79667838
rs79667838
Entrez Id: 2925
Gene Symbol: GRPR
GRPR
CUI: C1510586
Disease:
Autism Spectrum Disorders 		0.010 GeneticVariation BEFREE The results of this study led to the identification of four novel point mutations, two of which, that is, C6S and L181F, involve amino acid changes identified in two patients with ASD and Rett syndrome, respectively. 18393381 2008
dbSNP: rs79667838
rs79667838
Entrez Id: 2925
Gene Symbol: GRPR
GRPR
CUI: C0004352
Disease:
Autistic Disorder 		0.010 GeneticVariation BEFREE However, there is a potential role of C6S and L181F mutations on GRPR function, and possibly in the pathogenesis of the autistic disorders in the two patients. 18393381 2008
dbSNP: rs79667838
rs79667838
Entrez Id: 2925
Gene Symbol: GRPR
GRPR
CUI: C0035372
Disease:
Rett Syndrome 		0.010 GeneticVariation BEFREE The results of this study led to the identification of four novel point mutations, two of which, that is, C6S and L181F, involve amino acid changes identified in two patients with ASD and Rett syndrome, respectively. 18393381 2008