Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014474
Disease: Ependymoma
Ependymoma
0.010 Biomarker disease BEFREE Raw RNA-seq read sequences and PCR validation supports two novel fusion genes: a reciprocal fusion gene involving UQCR10 and C1orf194 in an adult spinal ependymoma and a TSPAN4-CD151 fusion gene in a pediatric infratentorial anaplastic ependymoma. 27401149 2016
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma
0.010 Biomarker disease BEFREE Raw RNA-seq read sequences and PCR validation supports two novel fusion genes: a reciprocal fusion gene involving UQCR10 and C1orf194 in an adult spinal ependymoma and a TSPAN4-CD151 fusion gene in a pediatric infratentorial anaplastic ependymoma. 27401149 2016
CUI: C0280787
Disease: Adult Anaplastic Ependymoma
Adult Anaplastic Ependymoma
0.010 Biomarker disease BEFREE Raw RNA-seq read sequences and PCR validation supports two novel fusion genes: a reciprocal fusion gene involving UQCR10 and C1orf194 in an adult spinal ependymoma and a TSPAN4-CD151 fusion gene in a pediatric infratentorial anaplastic ependymoma. 27401149 2016
CUI: C0280788
Disease: Anaplastic Ependymoma
Anaplastic Ependymoma
0.010 Biomarker disease BEFREE Raw RNA-seq read sequences and PCR validation supports two novel fusion genes: a reciprocal fusion gene involving UQCR10 and C1orf194 in an adult spinal ependymoma and a TSPAN4-CD151 fusion gene in a pediatric infratentorial anaplastic ependymoma. 27401149 2016
Newly Diagnosed Childhood Ependymoma
0.010 Biomarker disease BEFREE Raw RNA-seq read sequences and PCR validation supports two novel fusion genes: a reciprocal fusion gene involving UQCR10 and C1orf194 in an adult spinal ependymoma and a TSPAN4-CD151 fusion gene in a pediatric infratentorial anaplastic ependymoma. 27401149 2016
CUI: C1851584
Disease: Childhood Ependymoma
Childhood Ependymoma
0.010 Biomarker disease BEFREE Raw RNA-seq read sequences and PCR validation supports two novel fusion genes: a reciprocal fusion gene involving UQCR10 and C1orf194 in an adult spinal ependymoma and a TSPAN4-CD151 fusion gene in a pediatric infratentorial anaplastic ependymoma. 27401149 2016
CUI: C4086151
Disease: Childhood Anaplastic Ependymoma
Childhood Anaplastic Ependymoma
0.010 Biomarker disease BEFREE Raw RNA-seq read sequences and PCR validation supports two novel fusion genes: a reciprocal fusion gene involving UQCR10 and C1orf194 in an adult spinal ependymoma and a TSPAN4-CD151 fusion gene in a pediatric infratentorial anaplastic ependymoma. 27401149 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.010 GeneticVariation disease BEFREE Either gain-of-function or partial loss-of-function mutations to C1ORF194 can specify different causal mechanisms responsible for Charcot-Marie-Tooth disease with a wide range of clinical severity. 31199454 2019