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: 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: C0155930
Disease: Tooth Ankylosis
Tooth Ankylosis 		disease Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C0271869
Disease: Pseudohypoparathyroidism type I B
Pseudohypoparathyroidism type I B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C1834993
Disease: Prominent supraorbital arches in adult
Prominent supraorbital arches in adult 		phenotype Finding 1 0.100 None 0
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: C1839507
Disease: Thick skull base
Thick skull base 		phenotype Finding 2 0.100 None 0
CUI: C1859158
Disease: Laryngeal calcification
Laryngeal calcification 		disease Disease or Syndrome 2 0.100 None 0
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: C1856922
Disease: Limited elbow flexion
Limited elbow flexion 		phenotype Finding 3 0.100 None 0
CUI: C1969680
Disease: High iliac wings
High iliac wings 		phenotype Finding 3 0.100 None 0
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: C1849293
Disease: Advanced tarsal ossification
Advanced tarsal ossification 		phenotype Finding 4 0.100 None 0
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: C4025056
Disease: Failure of eruption of permanent teeth
Failure of eruption of permanent teeth 		disease Stomatognathic Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C1838186
Disease: Squared iliac bones
Squared iliac bones 		phenotype Finding 6 0.100 None 0
CUI: C1840307
Disease: Distal shortening of limbs
Distal shortening of limbs 		phenotype Finding 6 3 0.100 None 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C1849292
Disease: Advanced ossification of carpal bones
Advanced ossification of carpal bones 		phenotype Finding 7 0.100 None 0
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		disease Anatomical Abnormality 7 5 0.100 None 0
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: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis 		phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C1848103
Disease: Narrow pelvis bone
Narrow pelvis bone 		phenotype Finding 8 0.100 None 0
CUI: C0426801
Disease: Broad clavicle
Broad clavicle 		phenotype Finding 9 0.100 None 0
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease Musculoskeletal Diseases Acquired Abnormality 10 1 0.100 None 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		phenotype Finding 10 2 0.100 None 0