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: 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
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: 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
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.150 None 1.000 5 2011 2016
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 24 1 0.030 None 1.000 3 2003 2007
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
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: C2750027
Disease: Growth Hormone Deficiency With Pituitary Anomalies
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 1 2002 2008
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.020 None 1.000 2 2005 2006
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.010 None 1.000 1 2002 2002
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: C0032002
Disease: Pituitary Diseases
Pituitary Diseases 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.010 None 1.000 1 2017 2017
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
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
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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.110 None 1.000 1 2003 2003
CUI: C2930844
Disease: Hypopituitarism and septooptic 'dysplasia'
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: C1850055
Disease: PEHO syndrome
PEHO syndrome 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.010 None 1.000 1 2016 2016
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 107 15 0.010 None 1.000 1 2017 2017
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.010 None 1.000 1 2001 2001
CUI: C0342396
Disease: Idiopathic hypopituitarism
Idiopathic hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2007 2007
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 66 0.010 None 1.000 1 2013 2013
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