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: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 1 17 0.930 None 1.000 13 17 1992 2019
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Stomatognathic Diseases Disease or Syndrome 1 4 0.610 None 1.000 7 4 1995 2015
CUI: C2673477
Disease: Hypophosphatasia, Perinatal Lethal
Hypophosphatasia, Perinatal Lethal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 2 0.600 None 1.000 5 2 1995 2013
CUI: C1855815
Disease: Skin dimple over apex of long bone angulation
Skin dimple over apex of long bone angulation 		phenotype Finding 1 0.100 None 0
CUI: C4023157
Disease: Elevated plasma pyrophosphate
Elevated plasma pyrophosphate 		phenotype Finding 1 0.100 None 0
CUI: C4025607
Disease: Elevated urine pyrophosphate
Elevated urine pyrophosphate 		phenotype Finding 1 0.100 None 0
CUI: C1855828
Disease: Vertebral clefting
Vertebral clefting 		phenotype Finding 2 0.100 None 0
CUI: C1860202
Disease: Unossified vertebral bodies
Unossified vertebral bodies 		phenotype Finding 2 0.100 None 0
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: C1969738
Disease: Premature loss of permanent teeth
Premature loss of permanent teeth 		phenotype Finding 3 0.100 None 0
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
Low density lipoprotein receptor mutation 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 2019 2019
CUI: C1860130
Disease: Low alkaline phosphatase
Low alkaline phosphatase 		phenotype Finding 4 7 0.100 None 0 6
CUI: C0202251
Disease: Vitamin B6 measurement
Vitamin B6 measurement 		phenotype Laboratory Procedure 5 11 0.100 None 1.000 2 2 2009 2015
CUI: C0795796
Disease: Chromosome 1, monosomy 1p
Chromosome 1, monosomy 1p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0.010 None 1.000 1 1999 1999
CUI: C0426901
Disease: Short leg
Short leg 		phenotype Finding 7 1 0.100 None 0
CUI: C4551565
Disease: Rachitic rosary
Rachitic rosary 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 57 0.950 None 0.975 40 56 1988 2019
CUI: C0543918
Disease: SCHIZOPHRENIA 10
SCHIZOPHRENIA 10 		disease Mental or Behavioral Dysfunction 10 1 0.010 None 1.000 1 2018 2018
CUI: C1704328
Disease: Osteoblastic Osteosarcoma
Osteoblastic Osteosarcoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2018 2018
CUI: C2363819
Disease: Paucigranulocytic asthma
Paucigranulocytic asthma 		disease Disease or Syndrome 10 0.010 None 1.000 1 2014 2014
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		phenotype Finding 10 1 0.100 None 0
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 76 1.000 None 1.000 94 74 1987 2019
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		phenotype Laboratory Procedure 13 22 0.100 None 1.000 1 1 2009 2009