Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.050 AlteredExpression disease BEFREE Kaposi's sarcoma-associated herpesvirus ORF66 is essential for late gene expression and virus production via interaction with ORF34. 31694948 2020
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.050 Biomarker disease BEFREE In Kaposi's sarcoma-associated herpesvirus (KSHV), these vTAs are encoded by ORF18, ORF24, ORF30, ORF31, ORF34, ORF66. 31578296 2020
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.050 Biomarker disease BEFREE The vTAs in Kaposi's sarcoma-associated herpesvirus (KSHV) are ORF18, ORF24, ORF30, ORF31, ORF34, and ORF66. 30305361 2019
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.050 AlteredExpression disease BEFREE The results show that the KSHV ORF34 protein is involved in the KSHV life cycle by regulating the expression of HIF-1α and HIF-2α proteins.<b>IMPORTANCE</b> Hypoxia inducible factor 1α (HIF-1α) and HIF-2α are transcription factors which play important roles in the Kaposi's sarcoma-associated herpesvirus (KSHV) latent and lytic gene replication. 31189709 2019
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.050 Biomarker disease BEFREE Kaposi's sarcoma-associated herpesvirus ORF34 is essential for late gene expression and virus production. 28336944 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 Biomarker disease BEFREE We identify FAM120C as a novel X-linked candidate gene for autism for two reasons: first, a larger deletion encompassing FAM120C segregates with autism in a previously reported family and second, there is recent evidence that FAM120C interacts with CYFIP1, part of the FMRP (Fragile X Mental Retardation Protein) network. 25258334 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 GeneticVariation disease LHGDN Our findings show that in addition to point mutations, a complete deletion of the PHF8 gene is associated with the X-linked mental retardation Siderius-Hamel syndrome (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of autism. 18498374 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 Biomarker disease BEFREE Our findings show that in addition to point mutations, a complete deletion of the PHF8 gene is associated with the X-linked mental retardation Siderius-Hamel syndrome (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of autism. 18498374 2008
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 Biomarker group BEFREE In conclusion, FAM120C is a novel candidate gene for autism spectrum disorder based on genetic evidence and the brain expression pattern. 25258334 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 Biomarker disease BEFREE In conclusion, FAM120C is a novel candidate gene for autism spectrum disorder based on genetic evidence and the brain expression pattern. 25258334 2014
Siderius X-linked mental retardation syndrome
0.010 GeneticVariation disease BEFREE Our findings show that in addition to point mutations, a complete deletion of the PHF8 gene is associated with the X-linked mental retardation Siderius-Hamel syndrome (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of autism. 18498374 2008