TBCEL, tubulin folding cofactor E like, 219899

N. diseases: 7; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.020 GeneticVariation disease BEFREE We have ascertained two further individuals with clinical and radiological findings of a type II collagenopathy in infancy who developed brachydactyly type E like changes of fingers and toes in childhood. 15316962 2004
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.020 Biomarker disease BEFREE We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. 8723097 1996
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 Biomarker disease BEFREE Analysis of Dab1 splice forms in retinoblastoma and neuroblastoma tumor cells revealed relative enrichment of Dab1-L-like (includes exons 7 and 8) and Dab1-E-like (excludes exons 7 and 8) transcripts in retinoblastoma and neuroblastoma, respectively. 22163036 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 Biomarker disease BEFREE Analysis of Dab1 splice forms in retinoblastoma and neuroblastoma tumor cells revealed relative enrichment of Dab1-L-like (includes exons 7 and 8) and Dab1-E-like (excludes exons 7 and 8) transcripts in retinoblastoma and neuroblastoma, respectively. 22163036 2011
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 Biomarker disease BEFREE Analysis of Dab1 splice forms in retinoblastoma and neuroblastoma tumor cells revealed relative enrichment of Dab1-L-like (includes exons 7 and 8) and Dab1-E-like (excludes exons 7 and 8) transcripts in retinoblastoma and neuroblastoma, respectively. 22163036 2011
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 Biomarker disease BEFREE Analysis of Dab1 splice forms in retinoblastoma and neuroblastoma tumor cells revealed relative enrichment of Dab1-L-like (includes exons 7 and 8) and Dab1-E-like (excludes exons 7 and 8) transcripts in retinoblastoma and neuroblastoma, respectively. 22163036 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE In conclusion, antibody GD3G7 identified rare CS-E-like structures that were strongly expressed in ovarian adenocarcinomas. 17717144 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE In the RCS system, the tumor expresses Class II MHC I-E like specificities that are not expressed on the host cells and which selectively stimulate a subpopulation of I-E specific T cells, the V beta 17 a+ clonotype, leading to their expansion and continuous nurturing of the tumor via secreted lymphokines. 2695084 1989