Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 Biomarker disease CTD_human
CUI: C0268568
Disease: Classic Maple Syrup Urine Disease
Classic Maple Syrup Urine Disease 		0.300 Biomarker disease CTD_human
CUI: C0268569
Disease: Intermittent Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease 		0.300 Biomarker disease CTD_human
CUI: C0751285
Disease: Maple Syrup Urine Disease, Thiamine Responsive
Maple Syrup Urine Disease, Thiamine Responsive 		0.300 Biomarker disease CTD_human
CUI: C1621920
Disease: Intermediate Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease 		0.300 Biomarker disease CTD_human
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		0.100 Biomarker phenotype HPO
CUI: C0009421
Disease: Comatose
Comatose 		0.100 Biomarker phenotype HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0022638
Disease: Ketosis
Ketosis 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4016442
Disease: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB 		0.100 CausalMutation disease CLINVAR
CUI: C4024697
Disease: Elevated plasma branched chain amino acids
Elevated plasma branched chain amino acids 		0.100 Biomarker phenotype HPO