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: 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: 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: 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: 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: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.090 None 1.000 9 2002 2016
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.080 None 1.000 8 1999 2019
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.080 None 1.000 8 2002 2016
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 84 7 0.050 None 1.000 5 2000 2010
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.050 None 1.000 5 2000 2012
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.050 None 1.000 5 2000 2010
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency
disease Disease or Syndrome 85 1 0.040 None 1.000 4 2000 2008
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.030 None 1.000 3 2013 2016
CUI: C0221033
Disease: Trisomy X syndrome
Trisomy X syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 12 0.030 None 1.000 3 2000 2014
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.030 None 1.000 3 1999 2002
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 16 42 0.020 None 1.000 2 2003 2012
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.020 None 0.500 2 2001 2008
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.020 None 1.000 2 2012 2014
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.020 None 1.000 2 2012 2014
Klinefelter's syndrome - male with more than two X chromosomes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.020 None 1.000 2 2004 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2001 2010
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.020 None 1.000 2 2004 2010
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment
disease Disease or Syndrome 20 1 0.020 None 1.000 2 2013 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 2001 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 0.020 None 1.000 2 2003 2012