Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 Biomarker disease GENOMICS_ENGLAND A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 Biomarker disease GENOMICS_ENGLAND A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 CausalMutation disease CLINVAR
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 Biomarker disease GENOMICS_ENGLAND A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 GeneticVariation disease UNIPROT A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 GeneticVariation disease BEFREE Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO. 31825089 2020
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 SomaticCausalMutation disease ORPHANET A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 GeneticVariation disease UNIPROT Identification of recurrent SMO and BRAF mutations in ameloblastomas. 24859340 2014
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
0.710 Biomarker disease CTD_human