Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 GeneticVariation disease BEFREE A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. 31053780 2019
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 Biomarker disease GENOMICS_ENGLAND mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. 28892148 2018
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 GeneticVariation disease BEFREE Remarkably, in all reported families with Smith-Kingsmore syndrome and the MTOR c.5395G>A mutation, including the family described herein, healthy parents of recurrently affected children do not have detectable levels of the mutation in tested tissues, lending credence to gonadal mosaicism as the underlying mechanism. 27753196 2017
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 Biomarker disease GENOMICS_ENGLAND Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 GeneticVariation disease UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 Biomarker disease GENOMICS_ENGLAND Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 GermlineCausalMutation disease ORPHANET Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. 26542245 2015
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 GeneticVariation disease UNIPROT Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. 26542245 2015
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 GeneticVariation disease UNIPROT A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. 25851998 2015
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 GermlineCausalMutation disease ORPHANET A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. 25851998 2015
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 CausalMutation disease CLINVAR
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
0.720 GeneticVariation disease CLINVAR