Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.800 Biomarker disease CTD_human
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 Biomarker disease CTD_human
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3714237
Disease: Trifunctional Protein Deficiency, Type 2
Trifunctional Protein Deficiency, Type 2 		0.300 Biomarker disease CTD_human
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.140 Biomarker disease HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.140 Biomarker group HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 Biomarker phenotype HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.110 Biomarker group HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.110 Biomarker disease HPO
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.110 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 Biomarker disease HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.110 Biomarker group HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0009421
Disease: Comatose
Comatose 		0.100 Biomarker phenotype HPO
CUI: C0011071
Disease: Sudden death
Sudden death 		0.100 Biomarker phenotype HPO
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.100 Biomarker phenotype HPO