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: C0338822
Disease: Cycloid psychosis
Cycloid psychosis
disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 1984 1984
CUI: C1332575
Disease: Bone Epithelioid Hemangioma
Bone Epithelioid Hemangioma
disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C4704884
Disease: Fibrocystic Dysplasia of Bone
Fibrocystic Dysplasia of Bone
disease Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 1.000 1 1995 1995
Fibrocartilaginous Dysplasia of Bone
disease Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 1.000 1 1995 1995
CUI: C0002989
Disease: Epithelioid hemangioma of skin
Epithelioid hemangioma of skin
disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 2015 2015
CUI: C4525232
Disease: Rainbow Trout Hepatoma
Rainbow Trout Hepatoma
disease Neoplastic Process 5 0.010 None 1.000 1 2013 2013
CUI: C0476147
Disease: Chondrogenic Neoplasm
Chondrogenic Neoplasm
disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci
phenotype Neoplasms Finding 7 0.200 None 1.000 2 1992 1993
CUI: C0684516
Disease: Benign bone neoplasm
Benign bone neoplasm
group Neoplasms; Musculoskeletal Diseases Neoplastic Process 8 0.010 None 1.000 1 2000 2000
Abnormality of skeletal muscle fiber size
phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C0014347
Disease: Enterobacteriaceae Infections
Enterobacteriaceae Infections
group Infections Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0029441
Disease: Osteoid osteoma
Osteoid osteoma
disease Neoplasms Neoplastic Process 10 0.040 None 1.000 4 2018 2020
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2013 2013
Loss of subcutaneous adipose tissue in limbs
phenotype Finding 11 0.100 None 0
CUI: C0393786
Disease: Trigeminal Neuralgia, Idiopathic
Trigeminal Neuralgia, Idiopathic
disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
CUI: C0393787
Disease: Secondary Trigeminal Neuralgia
Secondary Trigeminal Neuralgia
disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma
disease Neoplastic Process 12 0.010 None 1.000 1 2019 2019
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology
disease Anatomical Abnormality 12 0.100 None 0
Familial Alzheimer's disease of early onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 14 33 0.010 None 1.000 1 1993 1993
CUI: C0085694
Disease: Chronic cholecystitis
Chronic cholecystitis
disease Digestive System Diseases Disease or Syndrome 16 0.010 None 1.000 1 1996 1996
CUI: C0038449
Disease: Stricture of artery
Stricture of artery
phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C0205788
Disease: Histiocytoid hemangioma
Histiocytoid hemangioma
disease Neoplasms Neoplastic Process 18 1 0.030 None 1.000 3 2015 2019
CUI: C0008476
Disease: Chondromatosis, Synovial
Chondromatosis, Synovial
disease Musculoskeletal Diseases Neoplastic Process 18 0.010 None 1.000 1 2019 2019
CUI: C0029427
Disease: Synovial osteochondromatosis
Synovial osteochondromatosis
disease Musculoskeletal Diseases Disease or Syndrome 18 0.010 None 1.000 1 2019 2019
CUI: C0016063
Disease: Osteitis Fibrosa Disseminata
Osteitis Fibrosa Disseminata
disease Musculoskeletal Diseases Disease or Syndrome 19 0.300 None 1.000 1 1995 1995