Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 GermlineCausalMutation ORPHANET We demonstrate convincing evidence that SUFU mutations can cause classical Gorlin syndrome. 25403219

2014
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 GermlineCausalMutation ORPHANET Together with the previous report describing three cases of non-NBCCS medulloblastoma carrying a germline mutation in this gene, individuals with a SUFU germline mutation are expected to have a markedly high risk of developing medulloblastoma and probably meningioma. 22829011

2012
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 GermlineCausalMutation ORPHANET This is the first report of a germ line SUFU mutation associated with GS. 19533801

2009