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: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 42 41 1.000 0.992 144 41 1981 2018
Hydroxymethylbilane Synthase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 34 0.510 1.000 45 34 1983 2015
Porphyria, Acute Intermittent, Nonerythroid Variant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 35 0.400 42 35 1990 2015
CUI: C0268322
Disease: Chester-type porphyria
Chester-type porphyria
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 34 0.300 42 34 1990 2015
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.220 1.000 3 1984 2010
CUI: C0020435
Disease: Hyperbilirubinemia, Hereditary
Hyperbilirubinemia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.200 1 1986 1986
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 55 9 0.200 1 1986 1986
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.130 1.000 3 1995 2015
CUI: C0554980
Disease: Moody (finding)
Moody (finding)
phenotype Finding 1 1 0.100 1 1 2015 2015
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 186 14 0.100 1 1 2015 2015
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 152 2 0.100 1 2 2015 2015
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Finding 77 4 0.100 1 1 2015 2015
High density lipoprotein measurement
phenotype Laboratory Procedure 323 867 0.100 1 1 2012 2012
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 172 2 0.100 1 1 2015 2015
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes
disease Mental or Behavioral Dysfunction 11 6 0.100 0
CUI: C0237326
Disease: Dyschezia
Dyschezia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 177 0.100 0
CUI: C0232487
Disease: Abdominal discomfort
Abdominal discomfort
phenotype Sign or Symptom 137 0.100 0
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 99 9 0.100 0
CUI: C0038990
Disease: Sweating
Sweating
phenotype Finding 96 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 338 30 0.100 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype Finding 101 0.100 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 58 0.100 0
CUI: C0039231
Disease: Tachycardia
Tachycardia
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 52 1 0.100 0