Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 GermlineCausalMutation disease ORPHANET DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 Biomarker disease GENOMICS_ENGLAND DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 GeneticVariation disease UNIPROT DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 Biomarker disease GENOMICS_ENGLAND DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 CausalMutation disease CLINVAR
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 GeneticVariation disease CLINVAR
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 Biomarker disease CTD_human
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.110 AlteredExpression disease BEFREE By week 24 of the study, either increasing OST48 expression or consumption of high AGE diet impaired liver function and modestly increased hepatic fibrosis, but their combination significantly exacerbated liver injury in the absence of steatosis. 28947796 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.110 Biomarker disease HPO
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.100 Biomarker group HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker group HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 Biomarker phenotype HPO
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO