LHX3, LIM homeobox 3, 8022

N. diseases: 55; N. variants: 9
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.
Pituitary Hormone Deficiency, Combined, 3
disease Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 7 0.700 5 7 2000 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 28 5 0.300 strong 4 2000 2015
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 66 18 0.300 strong 4 2000 2015
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 62 42 0.300 limited 1 2008 2008
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 0
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
disease Endocrine System Diseases; Nervous System Diseases Disease or Syndrome 44 1 0.220 1.000 3 2000 2011
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.130 1.000 3 2008 2018
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
disease Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 37 7 0.110 1.000 1 1 2007 2007
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 23 0.110 1.000 1 2012 2012
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement
phenotype Laboratory Procedure 15 28 0.100 1 1 2013 2013
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C0948740
Disease: Hypoplasia of the pituitary gland
Hypoplasia of the pituitary gland
disease Disease or Syndrome 19 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C4072822
Disease: Wide bregma sutures
Wide bregma sutures
phenotype Finding 62 0.100 0
Thickened facial skin with coarse facial features
phenotype Finding 150 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C1859335
Disease: Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis
phenotype Finding 5 0.100 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia
phenotype Finding 14 0.100 0
Abnormality of the hypothalamus-pituitary axis
phenotype Anatomical Abnormality 14 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C4072821
Disease: Large, late-closing fontanelle
Large, late-closing fontanelle
phenotype Finding 62 0.100 0
CUI: C4072820
Disease: Large bregma sutures
Large bregma sutures
phenotype Finding 62 0.100 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 71 3 0.100 0 1