Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 Biomarker disease BEFREE Additionally, the hormone induced the expression of the nuclear respiratory factors 1 and 2 (Nrf-1 and Nrf-2), the mitochondrial transcription factors A (Tfam) and B2 (TFB2M), and the optic atrophy 1 (OPA1). 31676390 2020
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.010 GeneticVariation phenotype BEFREE Molecular dynamics simulation of the TFB2M variant protein suggested an increase in the rigidity of the hinge region, which may cause alterations in loading and/or unloading of TFB2M on target DNA. 30414672 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 GeneticVariation group BEFREE Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder. 30414672 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE The roles of the TFB2M variation in the pathogenesis of ASD were investigated. 30414672 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE Mitochondrial DNA depletion and its correlation with TFAM, TFB1M, TFB2M and POLG in human diffusely infiltrating astrocytomas. 20643228 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 GeneticVariation disease BEFREE Our work suggests that DNA variants in TFB1M and TFB2M did not contribute to the risk for PD in our population. 18980857 2009