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: C0849668
Disease: peri-menopausal
peri-menopausal 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2006 2006
CUI: C1827996
Disease: Ovarian cancer, disseminated
Ovarian cancer, disseminated 		disease Neoplastic Process 2 0.010 None 1.000 1 2003 2003
CUI: C0340542
Disease: Sporadic primary pulmonary hypertension
Sporadic primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2001 2001
CUI: C0221045
Disease: High output heart failure
High output heart failure 		disease Cardiovascular Diseases Disease or Syndrome 5 0.020 None 1.000 2 2017 2019
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 6 91 0.030 None 1.000 3 2005 2013
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 57 0.010 None 1.000 1 2005 2005
CUI: C0206645
Disease: Desmoplastic fibroma
Desmoplastic fibroma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2019 2019
CUI: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C4021028
Disease: Pseudo-fractures
Pseudo-fractures 		disease Anatomical Abnormality 10 0.010 None 1.000 1 2018 2018
CUI: C1368237
Disease: Solitary Myofibromatosis
Solitary Myofibromatosis 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2019 2019
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 76 0.020 None 1.000 2 2002 2005
CUI: C1332214
Disease: Adult Primary Cutaneous Anaplastic Large Cell Lymphoma
Adult Primary Cutaneous Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 12 0.010 None 1.000 1 2014 2014
CUI: C0205823
Disease: Pleomorphic Lipoma
Pleomorphic Lipoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2000 2000
CUI: C1266121
Disease: Myofibroma (morphologic abnormality)
Myofibroma (morphologic abnormality) 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 13 0.010 None 1.000 1 2019 2019
CUI: C1707758
Disease: Direct Contact Transmission Infection
Direct Contact Transmission Infection 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 13 0.010 None 1.000 1 2005 2005
CUI: C0033817
Disease: Pseudomonas Infections
Pseudomonas Infections 		group Infections Disease or Syndrome 16 1 0.010 None 1.000 1 2016 2016
CUI: C0744620
Disease: Metastatic Head and Neck Squamous Cell Carcinoma
Metastatic Head and Neck Squamous Cell Carcinoma 		disease Neoplasms Neoplastic Process 17 0.020 None 1.000 2 2011 2013
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 35 0.010 None 1.000 1 1976 1976
CUI: C1302772
Disease: Primary cutaneous lymphoma
Primary cutaneous lymphoma 		disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 1998 1998
CUI: C1336548
Disease: Systemic Anaplastic Large Cell Lymphoma
Systemic Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2011 2011
CUI: C0014236
Disease: Endophthalmitis
Endophthalmitis 		disease Infections; Eye Diseases Disease or Syndrome 22 0.200 None 1.000 1 2007 2007
CUI: C0206644
Disease: Histiocytoma, Benign Fibrous
Histiocytoma, Benign Fibrous 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2014 2014
CUI: C1301362
Disease: Primary Cutaneous Anaplastic Large Cell Lymphoma
Primary Cutaneous Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 24 0.010 None 1.000 1 2014 2014
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 24 13 0.010 None 1.000 1 2018 2018
CUI: C1332079
Disease: Anaplastic Large Cell Lymphoma, ALK-Positive
Anaplastic Large Cell Lymphoma, ALK-Positive 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.020 None 0.500 2 2018 2019