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: C0392519
Disease: Calcium deficiency
Calcium deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1306839
Disease: Pyrophosphate arthritis
Pyrophosphate arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C0268531
Disease: Hydroxyprolinemia
Hydroxyprolinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0849784
Disease: Bacterial diarrhoea
Bacterial diarrhoea 		disease Digestive System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2009 2009
CUI: C1096285
Disease: Arterial fibrosis
Arterial fibrosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C1839866
Disease: Elevated serum acid phosphatase
Elevated serum acid phosphatase 		phenotype Nutritional and Metabolic Diseases Finding 4 0.100 None 0
CUI: C0432292
Disease: Familial expansile osteolysis
Familial expansile osteolysis 		disease Musculoskeletal Diseases Congenital Abnormality 5 2 0.010 None 1.000 1 2007 2007
CUI: C0751634
Disease: Carotid Ulcer
Carotid Ulcer 		phenotype Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 5 0.300 None 1.000 1 2015 2015
CUI: C0751636
Disease: External Carotid Artery Stenosis
External Carotid Artery Stenosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0887866
Disease: Monckeberg Medial Calcific Sclerosis
Monckeberg Medial Calcific Sclerosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2004 2004
CUI: C0031111
Disease: Periostitis
Periostitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None 1.000 1 2007 2007
CUI: C0003892
Disease: Neurogenic arthropathy
Neurogenic arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2 2017 2017
CUI: C0751635
Disease: Common Carotid Artery Stenosis
Common Carotid Artery Stenosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 7 0.300 None 1.000 1 2015 2015
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		disease Musculoskeletal Diseases Disease or Syndrome 8 4 0.800 None 1.000 23 4 2002 2020
CUI: C1290638
Disease: Resorption of apex of tooth root
Resorption of apex of tooth root 		disease Stomatognathic Diseases Disease or Syndrome 8 0.020 None 1.000 2 2014 2019
CUI: C0334569
Disease: Odontogenic myxoma
Odontogenic myxoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0948585
Disease: Hydroxyprolinuria
Hydroxyprolinuria 		phenotype Finding 8 0.100 None 0
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 18 0.010 None 1.000 1 2018 2018
CUI: C3698407
Disease: Peri-implant mucositis
Peri-implant mucositis 		disease Stomatognathic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0005974
Disease: Bone Resorption
Bone Resorption 		phenotype Musculoskeletal Diseases Organ or Tissue Function 10 0.300 None 1.000 3 2005 2013
CUI: C0796418
Disease: Visual Pathway Glioma
Visual Pathway Glioma 		disease Neoplasms Neoplastic Process 10 0.020 None 1.000 2 2012 2019
CUI: C0264010
Disease: Hepatic osteodystrophy
Hepatic osteodystrophy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
CUI: C0376356
Disease: Premenstrual Tension
Premenstrual Tension 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.010 None < 0.001 1 2017 2017
CUI: C1832451
Disease: Cranial hyperostosis
Cranial hyperostosis 		phenotype Musculoskeletal Diseases Finding 10 1 0.100 None 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		group Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2013 2013