SHOX, short stature homeobox, 6473

N. diseases: 138; 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: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 10 9 0.800 None 0.962 78 9 1999 2019
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 4 0.800 None 0.958 24 3 2000 2019
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 18 8 0.710 None 1.000 1 6 2017 2017
CUI: C1859399
Disease: Radial bowing
Radial bowing
phenotype Anatomical Abnormality 19 2 0.400 strong 0
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 limited 0
CUI: C1855276
Disease: Dorsolateral bowed, short radii
Dorsolateral bowed, short radii
phenotype Finding 1 0.300 strong 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.200 None 1.000 69 1 1997 2019
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 2 0.200 None 1.000 19 1 2000 2018
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.110 None 1.000 1 2009 2009
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
disease Acquired Abnormality 35 1 0.110 None 1.000 1 2007 2007
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.110 None 1.000 1 2002 2002
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 3 0.110 None 1.000 1 2002 2002
CUI: C0549306
Disease: Mesomelia
Mesomelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 27 4 0.110 None 1.000 1 1 2003 2003
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.100 None 0.950 40 1997 2019
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C4025745
Disease: Abnormal metatarsal morphology
Abnormal metatarsal morphology
phenotype Musculoskeletal Diseases Anatomical Abnormality 1 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
Disproportionate short-limb short stature
phenotype Finding 35 5 0.100 None 0
CUI: C1849955
Disease: Limited elbow movement
Limited elbow movement
phenotype Finding 13 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1850259
Disease: Short tibia
Short tibia
phenotype Finding 17 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1851988
Disease: Dorsal subluxation of ulna
Dorsal subluxation of ulna
phenotype Finding 1 0.100 None 0