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: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.090 None 1.000 9 2004 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.090 None 1.000 9 2004 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.090 None 1.000 9 2004 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.080 None 1.000 8 2005 2019
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.070 None 1.000 7 1998 2017
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.060 None 1.000 6 1 2006 2018
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.050 None 1.000 5 2010 2019
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.650 None 1.000 5 1 2002 2010
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: C1290587
Disease: Failure of tooth eruption
Failure of tooth eruption 		disease Disease or Syndrome 2 0.050 None 1.000 5 2011 2017
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: 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: 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: C0153690
Disease: Secondary malignant neoplasm of bone
Secondary malignant neoplasm of bone 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18 0.040 None 1.000 4 2007 2019
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: C1704356
Disease: Enchondroma
Enchondroma 		disease Neoplasms Neoplastic Process 41 13 0.030 None 1.000 3 3 2004 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2003 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2015 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.020 None 1.000 2 2014 2018
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2012 2018
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 171 38 0.020 None 1.000 2 2012 2018
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 8 0.020 None 1.000 2 2001 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2012 2018