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: C1527383
Disease: Morphea
Morphea 		disease Skin and Connective Tissue Diseases Disease or Syndrome 20 0.010 None 1.000 1 1991 1991
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0
CUI: C0278147
Disease: Radicular pain
Radicular pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 23 5 0.010 None 1.000 1 2011 2011
CUI: C2717759
Disease: Degenerative Intervertebral Discs
Degenerative Intervertebral Discs 		disease Musculoskeletal Diseases Anatomical Abnormality 23 0.300 None 1.000 1 2011 2011
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C4725861
Disease: Metastatic Malignant Neoplasm in the Viscera
Metastatic Malignant Neoplasm in the Viscera 		disease Neoplastic Process 30 2 0.010 None 1.000 1 2017 2017
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 32 233 0.010 None 1.000 1 2010 2010
CUI: C0854778
Disease: Pancreatic carcinoma resectable
Pancreatic carcinoma resectable 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 35 0.010 None 1.000 1 2010 2010
CUI: C2986561
Disease: Spindle Cell Oncocytoma of the Adenohypophysis
Spindle Cell Oncocytoma of the Adenohypophysis 		disease Neoplasms Neoplastic Process 35 2 0.010 None 1.000 1 2011 2011
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.010 None 1.000 1 2019 2019
CUI: C1292779
Disease: Myelodysplastic Syndrome with Isolated del(5q)
Myelodysplastic Syndrome with Isolated del(5q) 		disease Hemic and Lymphatic Diseases Neoplastic Process 41 1 0.050 None 1.000 5 2000 2014
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.050 None 1.000 5 1993 1996
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 1 0.050 None 1.000 5 2000 2014
CUI: C0457949
Disease: Chronic low back pain
Chronic low back pain 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 43 3 0.020 None 1.000 2 2011 2018
CUI: C0948216
Disease: Ovarian adenocarcinoma
Ovarian adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 43 1 0.010 None 1.000 1 1999 1999
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 45 1 0.050 None 1.000 5 2000 2014
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		disease Neoplasms Neoplastic Process 45 1 0.010 None 1.000 1 2008 2008
CUI: C0010246
Disease: Coxsackievirus Infections
Coxsackievirus Infections 		group Infections Disease or Syndrome 48 1 0.010 None 1.000 1 2019 2019
CUI: C0153398
Disease: Hypopharyngeal Cancer
Hypopharyngeal Cancer 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 50 1 0.010 None 1.000 1 2018 2018
CUI: C0036420
Disease: Localized scleroderma
Localized scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 51 0.010 None 1.000 1 1991 1991
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 56 63 0.010 None 1.000 1 1991 1991
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 57 3 0.200 None 1.000 1 1996 1996
CUI: C0027540
Disease: Necrosis
Necrosis 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 60 0.300 None 1.000 1 2013 2013
CUI: C0086942
Disease: Rous Sarcoma
Rous Sarcoma 		disease Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease 60 0.010 None 1.000 1 1986 1986
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon 		disease Cardiovascular Diseases Disease or Syndrome 63 1 0.010 None 1.000 1 2002 2002