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: C0035579
Disease: Rickets
Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 51 2 0.100 None 0
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 83 21 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.500 None 0.948 191 4 1988 2019
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 151 1 0.010 None 1.000 1 1988 1988
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.500 None 0.946 93 2 1989 2019
CUI: C0086445
Disease: Idiopathic Membranous Glomerulonephritis
Idiopathic Membranous Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 79 13 0.400 None 1.000 15 2 1989 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.200 None 0.962 26 8 1990 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.200 None 0.884 43 3 1991 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.500 None 0.931 29 2 1991 2016
CUI: C0263666
Disease: Dermatomyositis, Childhood Type
Dermatomyositis, Childhood Type 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 62 1 0.100 None 1.000 11 1991 2017
CUI: C0011608
Disease: Dermatitis Herpetiformis
Dermatitis Herpetiformis 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 43 0.040 None 1.000 4 1991 1997
CUI: C0157917
Disease: Pauciarticular juvenile rheumatoid arthritis
Pauciarticular juvenile rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 10 0.030 None 1.000 3 1991 1994
CUI: C1510449
Disease: Chronic iridocyclitis
Chronic iridocyclitis 		disease Eye Diseases Disease or Syndrome 6 0.030 None 1.000 3 1991 2013
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.020 None 1.000 2 1991 2001
CUI: C0242381
Disease: Lyme Arthritis
Lyme Arthritis 		disease Infections Disease or Syndrome 57 0.020 None 1.000 2 1991 2006
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.200 None 1.000 13 2 1992 2018
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 136 55 0.040 None 1.000 4 1992 2017