Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.770 Biomarker disease CTD_human
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 CausalMutation disease CLINVAR
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker disease CTD_human
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 Biomarker disease CTD_human
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker disease CTD_human
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.400 Biomarker disease HPO
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.400 CausalMutation disease CLINVAR
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		0.300 Biomarker disease CTD_human
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		0.300 Biomarker disease CTD_human
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.110 Biomarker phenotype HPO
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO