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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2013 2013
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2013 2013
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2004 2004
Generalized glycogen storage disease of infants
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2017 2017
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None 1.000 1 2007 2007
Symmetrical dyschromatosis of extremities
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 22 13 0.010 None 1.000 1 2013 2013
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2015 2015
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2004 2004
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 40 0.010 None 1.000 1 2017 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2013 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2014 2014
CUI: C1739405
Disease: CML progression
CML progression
disease Neoplastic Process 47 3 0.010 None 1.000 1 2013 2013
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 16 22 0.010 None 1.000 1 2008 2008
CUI: C2931230
Disease: Vacuolar myopathy
Vacuolar myopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2013 2013
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2004 2004
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.010 None 1.000 1 2016 2016
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.010 None 1.000 1 2018 2018
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.010 None 1.000 1 2019 2019
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.010 None 1.000 1 2018 2018
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.010 None 1.000 1 2013 2013
Congenital arteriovenous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.010 None 1.000 1 2013 2013
CUI: C0005699
Disease: Blast Phase
Blast Phase
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14 0.010 None 1.000 1 2013 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2014 2014
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 0.010 None 1.000 1 1996 1996
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2015 2015