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: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.510 None 1.000 3 1981 2018
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 1 0.600 None 1.000 3 1 1981 2005
CUI: C1848068
Disease: Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 2 2002 2012
CUI: C0236828
Disease: Articulation Disorders, Developmental
Articulation Disorders, Developmental 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2005 2005
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: C1321907
Disease: Congenital absence of parathyroid gland
Congenital absence of parathyroid gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 4 0.010 None 1.000 1 2005 2005
CUI: C3495145
Disease: Dyslalia
Dyslalia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2005 2005
CUI: C0235864
Disease: Congenital hypertrichosis lanuginosa
Congenital hypertrichosis lanuginosa 		disease Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2011 2011
CUI: C2936812
Disease: Congenital hypertrichosis
Congenital hypertrichosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2011 2011
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2004 2004
CUI: C3267007
Disease: Hypercalcitoninaemia
Hypercalcitoninaemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2001 2001
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland 		disease Congenital Abnormality 7 0.100 None 0
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		disease Finding 7 0.100 None 0
CUI: C2932715
Disease: Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 8 0.010 None 1.000 1 2003 2003
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		phenotype Finding 9 0.100 None 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 11 1 0.310 None 1.000 3 2011 2013
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2000 2000
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 14 11 0.020 None 1.000 2 1990 2001
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae 		disease Disease or Syndrome 15 0.100 None 0
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.020 None 1.000 2 1 2013 2015
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 0.100 None 0
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype Finding 18 0.100 None 0