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: C1290587
Disease: Failure of tooth eruption
Failure of tooth eruption 		disease Disease or Syndrome 2 0.050 None 1.000 5 2011 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2015 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2017 2017
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2018 2018
CUI: C1395512
Disease: Placental dysfunction
Placental dysfunction 		disease Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C2945759
Disease: aggressive cancer
aggressive cancer 		phenotype Neoplastic Process 83 5 0.010 None 1.000 1 2004 2004
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 1 2020 2020
CUI: C0027443
Disease: Natal Teeth
Natal Teeth 		phenotype Finding 22 2 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		phenotype Finding 27 4 0.100 None 0
CUI: C0266050
Disease: Failure of exfoliation of primary tooth
Failure of exfoliation of primary tooth 		phenotype Disease or Syndrome 12 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype Finding 51 8 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0
CUI: C0426801
Disease: Broad clavicle
Broad clavicle 		phenotype Finding 9 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype Finding 60 27 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype Finding 41 1 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 0.100 None 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		phenotype Finding 14 0.100 None 0
CUI: C1834993
Disease: Prominent supraorbital arches in adult
Prominent supraorbital arches in adult 		phenotype Finding 1 0.100 None 0