Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 CausalMutation disease CLINVAR
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease 		0.800 Biomarker disease CTD_human
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.130 Biomarker disease HPO
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.130 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.120 Biomarker disease HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.100 Biomarker group HPO
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia 		0.100 Biomarker disease HPO
CUI: C0853085
Disease: Decreased LDL cholesterol concentration
Decreased LDL cholesterol concentration 		0.100 Biomarker phenotype HPO
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 Biomarker phenotype HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		0.100 Biomarker phenotype HPO
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		0.100 Biomarker phenotype HPO
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		0.100 Biomarker phenotype HPO