PTH1R, parathyroid hormone 1 receptor, 5745

N. diseases: 187; N. variants: 16
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: C0265295
Disease: Jansen type metaphyseal chondrodysplasia
Jansen type metaphyseal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 4 0.710 None 1.000 7 4 1995 2017
CUI: C1859148
Disease: Chondrodysplasia, blomstrand type
Chondrodysplasia, blomstrand type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 3 3 0.710 None 1.000 5 3 1996 2007
CUI: C1838779
Disease: Eiken Skeletal Dysplasia
Eiken Skeletal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 1 1 0.710 None 1.000 3 1 1998 2018
CUI: C1852222
Disease: Failure of Tooth Eruption, Primary
Failure of Tooth Eruption, Primary 		disease Stomatognathic Diseases Disease or Syndrome 4 2 0.700 None 1.000 4 2 1998 2013
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.650 None 1.000 5 1 2002 2010
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.340 None 1.000 5 1 2005 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.310 None 1.000 2 2017 2018
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 0.300 None 1.000 2 2002 2008
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 111 14 0.300 None 1.000 1 2000 2000
CUI: C0035579
Disease: Rickets
Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.300 None 1.000 1 1999 1999
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.300 None 1.000 1 2011 2011
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 3 0.140 None 1.000 4 1 2002 2019
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 2018 2018
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.110 None 1.000 1 2010 2010
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 385 8 0.110 None 1.000 1 2004 2004
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.110 None 1.000 1 2019 2019
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 2018 2018
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 2 1 2016 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 1 1 2018 2018
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		phenotype Finding 13 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		phenotype Finding 34 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0