SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
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: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 168 27 0.170 None 1.000 7 2002 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2017 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 2013 2014
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2018 2018
CUI: C3151782
Disease: 46,XX SEX REVERSAL 3
46,XX SEX REVERSAL 3
disease Disease or Syndrome 1 0.300 strong 1.000 1 1996 1996
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
disease Congenital Abnormality 3 2 0.010 None 1.000 1 2000 2000
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis
disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia
phenotype Finding 18 1 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
Aplasia/Hypoplasia of the cerebellum
phenotype Finding 116 5 0.100 None 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary
phenotype Finding 16 2 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 0 1
Absence of secondary sex characteristics
phenotype Finding 44 0.100 None 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level
phenotype Finding 9 0.100 None 0
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland
disease Congenital Abnormality 7 0.100 None 0
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts
phenotype Finding 16 0.100 None 0
Abnormality of secondary sexual hair
disease Finding 7 0.100 None 0
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae
disease Disease or Syndrome 15 0.100 None 0
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level
phenotype Finding 18 0.100 None 0