HESX1, HESX homeobox 1, 8820

N. diseases: 34; N. variants: 16
Source: BEFREE ×
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 24 9 1.000 None 1.000 20 3 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 9 1 0.410 strong 1.000 1 2003 2015
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 4 0.320 None 1.000 2 1 2011 2017
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: 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 70 30 0.310 None 1.000 1 3 2007 2014
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 53 3 0.290 None 0.917 9 1 1998 2016
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 33 12 0.190 None 1.000 9 1 2003 2016
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 96 15 0.150 None 1.000 5 2011 2016
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 21 0.110 None 1.000 1 2003 2003
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 27 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 91 14 0.110 None 1.000 1 2011 2011
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2459 900 0.110 None 1.000 1 2002 2002
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 284 40 0.110 None 1.000 1 2003 2003
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 52 21 0.100 None 0.900 20 6 2003 2019
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 19 1 0.030 None 1.000 3 2003 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 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: 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 372 27 0.010 None 1.000 1 2017 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2395 676 0.010 None 1.000 1 1993 1993
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2016 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2007 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 140 6 0.010 None 1.000 1 1 2009 2009
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 50 15 0.010 None 1.000 1 2001 2001
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.010 None 1.000 1 2002 2002
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