Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 CausalMutation disease CLINVAR
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 Biomarker disease CTD_human
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker phenotype HPO
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.100 Biomarker phenotype HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.100 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.100 Biomarker disease HPO
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		0.100 Biomarker phenotype HPO
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0.100 Biomarker phenotype HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO