LHX4, LIM homeobox 4, 89884

N. diseases: 85; N. variants: 19
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, 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 8 0.700 None 1.000 6 8 2001 2015
CUI: C1868549
Disease: Marked delay in bone age
Marked delay in bone age
phenotype Finding 3 2 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
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 0.300 None 1.000 1 2015 2015
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland
disease Congenital Abnormality 7 0.100 None 0
Abnormality of secondary sexual hair
disease Finding 7 0.100 None 0
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis
phenotype Finding 8 0.100 None 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level
phenotype Finding 9 0.100 None 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility
phenotype Finding 12 0.100 None 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate
disease Congenital Abnormality 15 0.100 None 0
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae
disease Disease or Syndrome 15 0.100 None 0
Pituitary stalk interruption syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.310 None 1.000 2 1 2011 2013
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary
phenotype Finding 16 2 0.100 None 0
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts
phenotype Finding 16 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia
phenotype Finding 18 1 0.400 strong 1.000 1 2015 2015
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level
phenotype Finding 18 0.100 None 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia
phenotype Finding 23 1 0.100 None 0
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
disease Endocrine System Diseases Disease or Syndrome 24 1 0.040 None 1.000 4 2003 2015
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation
phenotype Finding 30 5 0.100 None 0
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: 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: C0002453
Disease: Amenorrhea
Amenorrhea
phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 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 0.130 None 1.000 3 1 2007 2017
Absence of secondary sex characteristics
phenotype Finding 44 0.100 None 0
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 47 2 0.110 None 1.000 1 2003 2003