Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
VACTERL Association With Hydrocephalus
0.610 CausalMutation disease CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
VACTERL Association With Hydrocephalus
0.610 CausalMutation disease CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
VACTERL Association With Hydrocephalus
0.610 CausalMutation disease CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394 2014
VACTERL Association With Hydrocephalus
0.610 Biomarker disease BEFREE The clinical findings were consistent with the diagnosis of VACTERL-H. Molecular analysis of PTEN, FANCB, and HOXD13 genes revealed no mutation. 24411047 2013
VACTERL Association With Hydrocephalus
0.610 CausalMutation disease CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360 2012
VACTERL Association With Hydrocephalus
0.610 Biomarker disease GENOMICS_ENGLAND Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265 2007
VACTERL Association With Hydrocephalus
0.610 CausalMutation disease CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
VACTERL Association With Hydrocephalus
0.610 Biomarker disease GENOMICS_ENGLAND A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304 2001
VACTERL Association With Hydrocephalus
0.610 Biomarker disease CTD_human A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304 2001
VACTERL Association With Hydrocephalus
0.610 Biomarker disease GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800 1972
VACTERL Association With Hydrocephalus
0.610 Biomarker disease GENOMICS_ENGLAND
VACTERL Association With Hydrocephalus
0.610 GeneticVariation disease CLINVAR
VACTERL Association With Hydrocephalus
0.610 Biomarker disease GENOMICS_ENGLAND