DMP1, dentin matrix acidic phosphoprotein 1, 1758

N. diseases: 134; N. variants: 6
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: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory 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 11 2 0.800 None 1.000 15 1 2006 2020
CUI: C4551495
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic Rickets, Autosomal Recessive, 1 		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 1 4 0.800 None 1.000 2 4 2006 2011
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.300 None 0
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		disease Disease or Syndrome 3 3 0.300 None 0
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		disease Disease or Syndrome 3 1 0.300 None 0
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 3 0.300 None 0
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 8 0.300 None 0
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 4 0.300 None 0
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 8 0.300 None 0
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 5 0.300 None 0
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 3 0.300 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 0.200 None 1.000 2 2006 2011
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.160 None 0.833 6 2007 2020
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 29 6 0.160 None 1.000 6 1 2007 2020
CUI: C0035579
Disease: Rickets
Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.150 None 1.000 5 2006 2014
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.140 None 1.000 4 2006 2017
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 0.120 None 1.000 2 2006 2007
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.110 None 1.000 1 2010 2010
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.110 None 1.000 1 2010 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 10 2000 2019
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 0.100 None 1.000 10 2007 2020
CUI: C0262621
Disease: Abnormality of the sacroiliac joint
Abnormality of the sacroiliac joint 		phenotype Finding 4 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: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 49 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0