rs587776582, TCOF1

N. diseases: 1
Disease: Mandibulofacial Dysostosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mandibulofacial Dysostosis
CUI: C0242387
Disease: Mandibulofacial Dysostosis
0.700 CausalMutation CLINVAR Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 22317976 2012
Mandibulofacial Dysostosis
CUI: C0242387
Disease: Mandibulofacial Dysostosis
0.700 CausalMutation CLINVAR Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 21951868 2011
Mandibulofacial Dysostosis
CUI: C0242387
Disease: Mandibulofacial Dysostosis
0.700 CausalMutation CLINVAR Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. 20003452 2009
Mandibulofacial Dysostosis
CUI: C0242387
Disease: Mandibulofacial Dysostosis
0.700 CausalMutation CLINVAR High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. 11013442 2000
Mandibulofacial Dysostosis
CUI: C0242387
Disease: Mandibulofacial Dysostosis
0.700 CausalMutation CLINVAR The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. 9042910 1997