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: C1959897
Disease: Alcohol consumption during pregnancy
Alcohol consumption during pregnancy 		phenotype Finding 1 0.300 None 1.000 1 1999 1999
CUI: C0221168
Disease: Podagra
Podagra 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Mental Disorders Disease or Syndrome 1 0.100 None 0
CUI: C1845892
Disease: Lesch-Nyhan Syndrome, Neurologic Variant
Lesch-Nyhan Syndrome, Neurologic Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0878672
Disease: Increased urinary urate
Increased urinary urate 		phenotype Finding 2 0.100 None 0
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 3 19 0.800 strong 1.000 30 19 1983 2017
CUI: C0268108
Disease: Chronic gouty arthritis
Chronic gouty arthritis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1291317
Disease: Deficiency of transferase
Deficiency of transferase 		group Disease or Syndrome 3 0.010 None 1.000 1 1984 1984
CUI: C0948643
Disease: Hyperuricosuria
Hyperuricosuria 		phenotype Finding 3 0.100 None 0
CUI: C0558595
Disease: Uric acid renal calculus
Uric acid renal calculus 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.110 None 1.000 1 2003 2003
CUI: C0403719
Disease: Uric acid urolithiasis
Uric acid urolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.110 None 1.000 1 2003 2003
CUI: C1845526
Disease: Mental Retardation, X-Linked 46
Mental Retardation, X-Linked 46 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1998 1998
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.070 None 1.000 7 2014 2017
CUI: C1370723
Disease: Stromal sarcoma
Stromal sarcoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2012 2012
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 9 15 0.010 None 1.000 1 1989 1989
CUI: C4317043
Disease: Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.010 None 1.000 1 1994 1994
CUI: C0473237
Disease: Frank hematuria
Frank hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 9 1 0.100 None 0
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 4 0.010 None 1.000 1 1986 1986
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 0.010 None 1.000 1 2007 2007
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 19 0.010 None 1.000 1 1986 1986
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 15 0.010 None 1.000 1 1990 1990
CUI: C0013428
Disease: Dysuria
Dysuria 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 3 0.100 None 0
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 10 0.010 None 1.000 1 1986 1986
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 1994 1994
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 25 8 0.010 None 1.000 1 1989 1989
CUI: C3532222
Disease: Inflammatory cardiomyopathy
Inflammatory cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 25 0.010 None 1.000 1 2008 2008