Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Multiple self-healing squamous epithelioma
0.560 GeneticVariation disease BEFREE The intronic variant was predicted to mediate in-frame exon 5 skipping within the serine/threonine kinase (STK) domain, which may also be mediated by a similar TGFBR1 variant of a splice acceptor site in intron 4 (c.806-2 A > C), identified in a British familial case of MSSE. 29706644 2018
Multiple self-healing squamous epithelioma
0.560 GeneticVariation disease BEFREE Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant. 30513140 2018
Multiple self-healing squamous epithelioma
0.560 GeneticVariation disease BEFREE Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus. 24747516 2014
Multiple self-healing squamous epithelioma
0.560 GermlineCausalMutation disease ORPHANET Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634 2011
Multiple self-healing squamous epithelioma
0.560 Biomarker disease CTD_human Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634 2011
Multiple self-healing squamous epithelioma
0.560 GeneticVariation disease BEFREE This distinguishes MSSE from the Marfan syndrome-related disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer. 21358634 2011
Multiple self-healing squamous epithelioma
0.560 GeneticVariation disease BEFREE This transcript map encompasses both the HSN-I critical interval and the locus for multiple self-healing squamous epithelioma (MSSE, previously named ESS1). 9722951 1998
Multiple self-healing squamous epithelioma
0.560 Biomarker disease BEFREE This XPA polymorphism and nine new polymorphic markers that map in the MSSE region were typed in eleven MSSE families; XPA was excluded as the MSSE gene and the most likely location of MSSE was reduced to the interval between D9S197 and (D9S287, D9S1809). 9439661 1997