Source: ALL
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: C1969115
Disease: GALLBLADDER DISEASE 4
GALLBLADDER DISEASE 4
disease Digestive System Diseases Disease or Syndrome 1 1 0.400 None 0 1
Macrothrombocytopenia-Stomatocytosis, Mediterranean
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000
CUI: C0009438
Disease: Common Bile Duct Calculi
Common Bile Duct Calculi
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 4 0.300 None 1.000 1 2007 2007
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
disease Nutritional and Metabolic Diseases Disease or Syndrome 4 2 0.100 None 0
CUI: C1859495
Disease: Episodic hemolytic anemia
Episodic hemolytic anemia
phenotype Hemic and Lymphatic Diseases Finding 4 2 0.100 None 0
Low phospholipid-associated cholelithiasis
disease Digestive System Diseases Disease or Syndrome 5 29 0.010 None 1.000 1 1 2014 2014
Abnormality of nervous system physiology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Pathologic Function 6 0.100 None 0
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology
phenotype Pathologic Function 6 0.100 None 0
CUI: C4024924
Disease: Cerebral artery atherosclerosis
Cerebral artery atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 6 0.100 None 0
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis
phenotype Finding 6 0.100 None 0
Abnormal internal carotid artery morphology
disease Finding 7 0.100 None 0
CUI: C1848486
Disease: Premature arteriosclerosis
Premature arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 9 0.100 None 0
CUI: C4021654
Disease: Precocious atherosclerosis
Precocious atherosclerosis
phenotype Cardiovascular Diseases Pathologic Function 9 0.100 None 0
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia
disease Disease or Syndrome 10 3 0.010 None 1.000 1 2008 2008
Giant platelet (morphologic abnormality)
phenotype Finding 10 0.100 None 0
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure)
phenotype Laboratory Procedure 10 0.100 None 0
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 1.000 None 1.000 29 14 2000 2019
CUI: C4021796
Disease: Renal steatosis
Renal steatosis
disease Disease or Syndrome 12 0.100 None 0
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result
phenotype Laboratory or Test Result 13 0.100 None 0
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum
disease Nutritional and Metabolic Diseases Disease or Syndrome 15 22 0.100 None 0
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.100 None 0
CUI: C1387532
Disease: Chronic hemolytic anemia
Chronic hemolytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 5 0.100 None 0
CUI: C1855853
Disease: Impaired platelet aggregation
Impaired platelet aggregation
phenotype Finding 16 0.100 None 0
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma
disease Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 19 32 0.010 None 1.000 1 2017 2017
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta
phenotype Pathologic Function 21 0.100 None 0