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: 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: 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: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.020 None 1.000 2 2005 2006
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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 1993 1993
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.010 None 1.000 1 2017 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.110 None 1.000 1 2003 2003
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.010 None 1.000 1 2017 2017
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: 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: C0264722
Disease: Chronic congestive heart failure
Chronic congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 11 0.010 None 1.000 1 2009 2009
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.010 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: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 35 3 0.110 None 1.000 1 2003 2003
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.010 None 1.000 1 1985 1985
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: 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: 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