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.
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 24 0.740 1.000 10 24 1993 2016
Navajo Familial Neurogenic Arthropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 7 0.500 4 7 2006 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.500 strong 1 2009 2009
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 154 17 0.320 1.000 2 2003 2009
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.310 strong 1.000 1 2014 2014
CUI: C0391976
Disease: Pain Disorder
Pain Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 29 1 0.300 moderate 6 1976 2015
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 strong 3 2006 2008
Oxidative Phosphorylation Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 12 0.300 1 2009 2009
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 27 7 0.300 1 2009 2009
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 1 2009 2009
Mitochondrial Respiratory Chain Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 39 2 0.300 1 2009 2009
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Finding 183 5 0.300 1 2009 2009
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 10 0.300 1 2009 2009
Electron Transport Chain Deficiencies, Mitochondrial
disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.300 1 2009 2009
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.300 1 2009 2009
CUI: C0009197
Disease: Cochlear Diseases
Cochlear Diseases
group Otorhinolaryngologic Diseases Disease or Syndrome 3 0.300 1 2009 2009
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 297 104 0.300 strong 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 limited 0
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 181 8 0.220 1.000 2 1994 1998
Alport Syndrome, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 5 25 0.200 6 1990 2009
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
disease Disease or Syndrome 4 13 0.200 6 1990 2009
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.110 1.000 1 2018 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.110 1.000 1 2009 2009
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
disease Disease or Syndrome 22 4 0.100 1.000 11 2006 2015
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 335 923 0.100 1 1 2012 2012