HESX1, HESX homeobox 1, 8820

N. diseases: 143; N. variants: 22
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: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 19 1.000 None 1.000 31 12 1998 2016
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.410 strong 1.000 2 2003 2015
Pituitary Hormone Deficiency, Combined, 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 6 24 0.400 None 1.000 1 3 2003 2003
Pituitary stalk interruption syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.320 None 1.000 3 1 2011 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.310 None 1.000 5 3 2007 2014
Hypopituitarism and septooptic 'dysplasia'
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.310 None 1.000 1 2003 2003
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.290 None 0.917 12 1 1998 2016
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 41 12 0.190 None 1.000 9 1 2003 2016
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 168 27 0.150 None 1.000 5 2011 2016
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.110 None 1.000 1 2002 2002
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 35 3 0.110 None 1.000 1 2003 2003
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.110 None 1.000 1 2011 2011
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 47 2 0.110 None 1.000 1 2003 2003
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.110 None 1.000 1 2003 2003
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 73 23 0.100 None 0.900 20 6 2003 2019
Growth Hormone Deficiency With Pituitary Anomalies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 2 0.100 None 1.000 3 2 1998 2009
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
Congenital absence of kidneys syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger
phenotype Finding 39 3 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia
phenotype Finding 23 1 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 146 7 0.100 None 0
CUI: C1384606
Disease: Dyspareunia
Dyspareunia
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders Finding 37 0.100 None 0