SEMA5A, semaphorin 5A, 9037

N. diseases: 85; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE This study supports newly recognized effects of aberrant SEMA5A and CTNND2 dosage on severity of autistic and cognitive phenotypes. 26601658 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE We take a step towards better understanding of the significance of SEMA5A pathways in autism that can guide interpretation of many other genetic results in ASDs. 23575222 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. 19812673 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 AlteredExpression disease BEFREE Constitutional downregulation of SEMA5A expression in autism. 17028446 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease CTD_human Constitutional downregulation of SEMA5A expression in autism. 17028446 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease LHGDN Constitutional downregulation of SEMA5A expression in autism. 17028446 2006