LHX3, LIM homeobox 3, 8022

N. diseases: 69; N. variants: 17
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: C3489787
Disease: Pituitary Hormone Deficiency, Combined, 3
Pituitary Hormone Deficiency, Combined, 3 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 7 0.710 None 1.000 5 7 2000 2017
CUI: C4022967
Disease: Hypothalamic luteinizing hormone-releasing hormone deficiency
Hypothalamic luteinizing hormone-releasing hormone deficiency 		phenotype Finding 1 0.100 None 0
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: C1859335
Disease: Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis 		phenotype Finding 6 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype Finding 18 1 0.100 None 0
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 24 1 0.120 None 1.000 2 2003 2011
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		phenotype Laboratory Procedure 24 42 0.100 None 1.000 1 2 2013 2013
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease Disease or Syndrome 26 0.100 None 0
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 35 3 0.120 None 1.000 2 2003 2011
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 0.100 None 0
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 41 12 0.120 None 1.000 2 1 2007 2015
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 41 1 0.010 None 1.000 1 2004 2004
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		phenotype Laboratory Procedure 42 83 0.100 None 1.000 1 1 2013 2013
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 47 2 0.120 None 1.000 2 2003 2011
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		group Laboratory Procedure 51 134 0.100 None 1.000 1 1 2013 2013
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.230 None 0.750 4 1 2000 2019
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease Anatomical Abnormality 70 0.100 None 0
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 73 23 0.100 None 0.938 16 2 2000 2019
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease Congenital Abnormality 85 28 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.010 None 1.000 1 2015 2015
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.010 None 1.000 1 2008 2008
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.020 None 1.000 2 2009 2017
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.010 None 1.000 1 2015 2015