TOP3B, DNA topoisomerase III beta, 8940

N. diseases: 14; N. variants: 0
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE TOP3B encodes a topoisomerase DNA (III) β protein and has been implicated in several neurological diseases such as schizophrenia and autism. 29490292 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE The mechanism of pathogenesis contributing significantly to our patient's clinical findings may relate to interaction between TOP3B and fragile X mental retardation protein (FMRP), an mRNA-binding protein that regulates translation and is altered in fragile X syndrome, a condition involving developmental delay, learning disability, and autism. 27880953 2016