GHR, growth hormone receptor, 2690

N. diseases: 247; N. variants: 46
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: C0001206
Disease: Acromegaly
Acromegaly 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.100 None 0.969 32 2002 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 16 1 1999 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 14 1 2002 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 13 1995 2020
CUI: C4318479
Disease: Growth Hormone Insensitivity Syndrome
Growth Hormone Insensitivity Syndrome 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 1 0.100 None 1.000 12 1 1995 2013
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 1.000 11 1993 2018
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.100 None 1.000 11 1993 2018
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.100 None 1.000 11 1997 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 2 2019 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2011 2011
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		disease Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 19 32 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 0.100 None 0 1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		phenotype Finding 9 3 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0 1
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype Finding 67 11 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0544755
Disease: Genu varum
Genu varum 		phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0 1
CUI: C1866239
Disease: Mesomelic/rhizomelic limb shortening
Mesomelic/rhizomelic limb shortening 		phenotype Finding 3 1 0.100 None 0 1
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0