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: 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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.010 None 1.000 1 1999 1999
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma
disease Neoplastic Process 73 5 0.010 None 1.000 1 2008 2008
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.010 None 1.000 1 1995 1995
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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2019 2019
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
disease Eye Diseases Disease or Syndrome 142 14 0.010 None 1.000 1 1999 1999
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None < 0.001 1 2014 2014
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome
disease Wounds and Injuries Disease or Syndrome 54 8 0.010 None 1.000 1 2015 2015
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: 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: 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: 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: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 100 24 0.010 None 1.000 1 2016 2016
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.010 None 1.000 1 1994 1994
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 2018 2018
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 75 1 0.010 None 1.000 1 2012 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2015 2015
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.010 None 1.000 1 1989 1989
CUI: C0027121
Disease: Myositis
Myositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.010 None 1.000 1 1999 1999
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: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 54 42 0.010 None 1.000 1 1990 1990
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2018 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 2019 2019
CUI: C0030481
Disease: Tropical Spastic Paraparesis
Tropical Spastic Paraparesis
disease Infections; Nervous System Diseases Disease or Syndrome 88 4 0.010 None 1.000 1 2000 2000