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: C0005937
Disease: Bone Cysts
Bone Cysts 		disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.150 None 1.000 5 2000 2018
CUI: C1285498
Disease: Vegetation
Vegetation 		disease Anatomical Abnormality 67 0.010 None 1.000 1 2018 2018
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.100 None 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		group Musculoskeletal Diseases Anatomical Abnormality 60 2 0.100 None 0
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		disease Anatomical Abnormality 20 1 0.100 None 0
CUI: C0410533
Disease: Osteodysplasia
Osteodysplasia 		disease Congenital Abnormality 8 0.010 None 1.000 1 2004 2004
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0
CUI: C1857316
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 15 0.700 None 1.000 25 5 1990 2019
CUI: C4721893
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 5 0.500 None 1.000 20 1 2000 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 1.000 15 1 2015 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.050 None 1.000 5 2017 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.030 None 1.000 3 2015 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.020 None 0.500 2 2014 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.020 None 1.000 2 2014 2019
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.020 None 1.000 2 2007 2013
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		disease Otorhinolaryngologic Diseases Disease or Syndrome 110 1 0.020 None 1.000 2 2013 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2018 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2018 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2009 2009
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None 1.000 1 2017 2017
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		group Nervous System Diseases Disease or Syndrome 156 5 0.010 None 1.000 1 2009 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2019 2019