Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.800 Biomarker disease CTD_human
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3278156
Disease: GLUTARIC ACIDEMIA IIC
GLUTARIC ACIDEMIA IIC
0.400 CausalMutation disease CLINVAR
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC
0.310 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.300 GeneticVariation disease UNIPROT
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA
0.300 Biomarker disease CTD_human
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB
0.300 Biomarker disease CTD_human
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.110 Biomarker disease HPO
CUI: C0001122
Disease: Acidosis
Acidosis
0.100 Biomarker phenotype HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
0.100 Biomarker disease HPO
CUI: C0017639
Disease: Gliosis
Gliosis
0.100 Biomarker phenotype HPO
CUI: C0017979
Disease: Glycosuria
Glycosuria
0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma
0.100 Biomarker disease HPO
CUI: C0022346
Disease: Icterus
Icterus
0.100 Biomarker phenotype HPO
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
0.100 Biomarker group HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0027497
Disease: Nausea
Nausea
0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting
0.100 Biomarker phenotype HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.100 Biomarker disease HPO
CUI: C0239676
Disease: High forehead
High forehead
0.100 Biomarker phenotype HPO
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
0.100 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria
0.100 Biomarker disease HPO
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria
0.100 Biomarker phenotype HPO