Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
disease Disease or Syndrome 2 4 0.600 strong 1.000 2 4 2009 2017
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.500 None 1.000 3 2009 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.320 strong 1.000 3 2009 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.110 None 1.000 1 2018 2018
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate
phenotype Finding 45 1 0.100 None 0
Paroxysmal involuntary eye movements
phenotype Finding 39 2 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
phenotype Finding 21 2 0.100 None 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype Finding 18 0.100 None 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 37 0.100 None 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness
phenotype Finding 10 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
Congenital absence of kidneys syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype Finding 98 4 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex
disease Anatomical Abnormality 11 8 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype Finding 87 1 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype Mental Disorders Finding 73 6 0.100 None 0