Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.650 Biomarker CLINGEN Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1. 25467444

2014
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.650 Biomarker CLINGEN We identify DC patients with missense mutations in TCAB1, a telomerase holoenzyme protein that facilitates trafficking of telomerase to Cajal bodies. 21205863

2011
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.650 Biomarker CLINGEN In iPSCs from a form of dyskeratosis congenita caused by mutations in TCAB1 (also known as WRAP53), telomerase catalytic activity is unperturbed, yet the ability of telomerase to lengthen telomeres is abrogated, because telomerase mislocalizes from Cajal bodies to nucleoli within the iPSCs. 21602826

2011
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.650 Biomarker CLINGEN WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies. 21072240

2010