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: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 28 0.600 None 1.000 8 28 2003 2016
CUI: C3809781
Disease: Cole disease
Cole disease 		disease Disease or Syndrome 1 4 0.720 None 1.000 4 4 2009 2018
CUI: C0270250
Disease: Meconium peritonitis
Meconium peritonitis 		disease Digestive System Diseases; Infections Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
CUI: C0858925
Disease: Deafness labyrinthine
Deafness labyrinthine 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C0155477
Disease: Tympanosclerosis involving other combination of structures
Tympanosclerosis involving other combination of structures 		disease Otorhinolaryngologic Diseases Disease or Syndrome 1 0.200 None 0
CUI: C1859728
Disease: Coronary Sclerosis, Medial, of Infancy
Coronary Sclerosis, Medial, of Infancy 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4025269
Disease: Generalized arterial calcification
Generalized arterial calcification 		phenotype Pathologic Function 1 0.100 None 0
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		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 7 0.700 None 1.000 4 7 2005 2015
CUI: C0020441
Disease: Hypercementosis
Hypercementosis 		disease Stomatognathic Diseases Disease or Syndrome 2 0.020 None 1.000 2 2018 2018
CUI: C3494419
Disease: Dentofacial Deformities
Dentofacial Deformities 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 2 1 0.010 None 1.000 1 1 2016 2016
CUI: C4023579
Disease: Abnormality of renal excretion
Abnormality of renal excretion 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 2 0.700 None 1.000 17 2 2003 2018
CUI: C4552243
Disease: Dyschromatosis
Dyschromatosis 		disease Congenital Abnormality 3 1 0.010 None 1.000 1 2018 2018
CUI: C0518988
Disease: Dental abscess
Dental abscess 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1833323
Disease: Rickets of the lower limbs
Rickets of the lower limbs 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 3 0.100 None 0
CUI: C1860107
Disease: Distal femoral bowing
Distal femoral bowing 		phenotype Finding 3 0.100 None 0
CUI: C4024631
Disease: Renal hypophosphatemia
Renal hypophosphatemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0262621
Disease: Abnormality of the sacroiliac joint
Abnormality of the sacroiliac joint 		phenotype Finding 4 0.100 None 0
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2012 2012
CUI: C4023065
Disease: Low serum calcitriol
Low serum calcitriol 		phenotype Finding 5 0.100 None 0
CUI: C4551970
Disease: Sclerotic vertebral endplates
Sclerotic vertebral endplates 		phenotype Finding 5 0.100 None 0
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 6 25 0.200 None 1.000 1 2012 2012
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C0263978
Disease: Disorder of soft tissue
Disorder of soft tissue 		group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 7 9 0.010 None 1.000 1 2015 2015