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: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 0.380 None 1.000 11 2001 2017
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 68 20 0.060 None 1.000 6 2009 2018
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		disease Disease or Syndrome 45 3 0.060 None 1.000 6 2009 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.050 None 1.000 5 2003 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.150 None 1.000 5 2004 2016
CUI: C0409896
Disease: Familial chondrocalcinosis
Familial chondrocalcinosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.030 None 1.000 3 1999 2011
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.030 None 1.000 3 2000 2007
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.120 None 1.000 2 2003 2004
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.020 None 1.000 2 2005 2007
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.020 None 1.000 2 2012 2019
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.300 None 1.000 1 2007 2007
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.010 None 1.000 1 2011 2011
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.010 None 1.000 1 2011 2011
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 36 31 0.010 None 1.000 1 2011 2011
CUI: C0242217
Disease: Calcium Pyrophosphate Dihydrate Deposition
Calcium Pyrophosphate Dihydrate Deposition 		phenotype Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2007 2007
CUI: C2675746
Disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 2 0.200 None 1.000 1 2009 2009
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 5 0.010 None 1.000 1 2016 2016
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None 1.000 1 2013 2013
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 160 6 0.010 None 1.000 1 2004 2004
CUI: C0524730
Disease: Odontome
Odontome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 0.300 None 1.000 1 2007 2007
CUI: C2931244
Disease: Craniometaphyseal dysplasia, autosomal recessive type
Craniometaphyseal dysplasia, autosomal recessive type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 1 0.200 None 1.000 1 2009 2009
CUI: C0409860
Disease: Rotator cuff tear arthropathy
Rotator cuff tear arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2007 2007
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2007 2007
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 51 0.010 None 1.000 1 2012 2012
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2011 2011