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: C1969093
Disease: Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 6 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.800 limited 1.000 3 2007 2016
CUI: C4748197
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 		disease Disease or Syndrome 1 2 0.600 limited 1.000 2 2 2008 2016
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.450 limited 1.000 5 2007 2016
CUI: C0432261
Disease: Osteopetrosis - intermediate type
Osteopetrosis - intermediate type 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.300 None 1.000 1 2007 2007
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.110 None 1.000 1 2016 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 4 1 2009 2012
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.100 None 1.000 2 3 2013 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2018 2018
CUI: C3158111
Disease: response to SSRI
response to SSRI 		phenotype Cell Function 28 53 0.100 None 1.000 1 1 2018 2018
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		disease Neoplasms Neoplastic Process 143 65 0.100 None 1.000 1 1 2017 2017
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 5 2012 2012
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.100 None 1.000 1 1 2018 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 1.000 1 1 2017 2017
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		phenotype Finding 7 0.100 None 0
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria 		phenotype Finding 27 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0004604
Disease: Back Pain
Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 110 10 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype Finding 123 0.100 None 0
CUI: C4020919
Disease: Dense metaphyseal bands
Dense metaphyseal bands 		phenotype Finding 2 1 0.100 None 0
CUI: C4021624
Disease: Osteosclerosis of the base of the skull
Osteosclerosis of the base of the skull 		phenotype Finding 4 0.100 None 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C4025164
Disease: Cortical sclerosis
Cortical sclerosis 		phenotype Musculoskeletal Diseases Pathologic Function 4 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0