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: C0020631
Disease: Familial hypophosphatemia
Familial hypophosphatemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C0264082
Disease: Craniomandibular osteopathy
Craniomandibular osteopathy 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 4 15 0.800 strong 1.000 21 15 2000 2019
CUI: C4727947
Disease: Hypophosphataemic osteomalacia
Hypophosphataemic osteomalacia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 4 1 0.020 None 1.000 2 1 2014 2019
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 7 1 0.200 None 0
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 9 2 0.010 None 1.000 1 2015 2015
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 9 2 0.100 None 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		phenotype Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Finding 14 2 0.100 None 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		disease Congenital Abnormality 14 0.100 None 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate 		disease Congenital Abnormality 15 0.100 None 0
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 20 1 0.100 None 0
CUI: C0015403
Disease: Eye Infection
Eye Infection 		group Infections; Eye Diseases Disease or Syndrome 24 0.010 None 1.000 1 2009 2009
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		group Musculoskeletal Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2019 2019
CUI: C4553297
Disease: Cystic Echinocccosis
Cystic Echinocccosis 		disease Infections Disease or Syndrome 26 1 0.010 None 1.000 1 2008 2008
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		phenotype Finding 27 4 0.100 None 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 27 10 0.100 None 0 1
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 29 6 0.010 None 1.000 1 2012 2012
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 31 1 0.010 None 1.000 1 2017 2017
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease Congenital Abnormality 32 16 0.100 None 0
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 34 1 0.010 None 1.000 1 2016 2016
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		phenotype Finding 41 0.100 None 0
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		phenotype Disease or Syndrome 42 5 0.010 None 1.000 1 2017 2017
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 43 15 0.020 None 1.000 2 2012 2013
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.010 None 1.000 1 2019 2019
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.010 None 1.000 1 2017 2017