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.
Hypophosphatemic Rickets, X-Linked Dominant
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 54 122 1.000 strong 0.976 83 114 1987 2020
Vitamin D-Resistant Rickets, X-Linked
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 48 3 0.600 strong 0.987 75 2 1988 2020
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic
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 23 1 0.600 None 1.000 51 1 1988 2020
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 0.500 None 0.972 36 2 1988 2019
Hypophosphatemic Rickets, X-Linked Recessive
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 2 1 0.500 None 1.000 15 1988 2018
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.310 None 1.000 2 1997 2019
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 1991 1991
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 29 6 0.200 None 1.000 27 1 1998 2019
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.200 None 1.000 13 1 1998 2019
CUI: C0035579
Disease: Rickets
Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.200 None 0.917 12 1989 2019
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.200 None 1.000 2 2004 2008
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.200 None 1.000 1 2004 2004
CUI: C3887650
Disease: Adult Rickets
Adult Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.160 None 1.000 6 1989 2019
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 0.160 None 1.000 6 1 1989 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.110 None 1.000 1 2019 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 2015 2015
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 41 38 0.100 None 0.960 25 1997 2020
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 21 1 0.100 None 1.000 11 2004 2018
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 1.000 1 1 2014 2014
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement
phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0002957
Disease: Anger
Anger
phenotype Behavior and Behavior Mechanisms Mental Process 4 4 0.100 None 1.000 1 1 2014 2014
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement
phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C1843986
Disease: Flattening of the talar dome
Flattening of the talar dome
phenotype Finding 1 0.100 None 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing
phenotype Musculoskeletal Diseases Finding 25 0.100 None 0