PUF60, poly(U) binding splicing factor 60, 22827

N. diseases: 188; N. variants: 24
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. 28327570 2017