STAT3 Gain of Function
|
phenotype |
|
Cell or Molecular Dysfunction
|
1
|
9
|
0.100 |
None |
1.000 |
20 |
9
|
2007 |
2018 |
Neutropenia and hyperlymphocytosis with large granular lymphocytes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2016 |
2018 |
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
2 |
|
2007 |
2007 |
Sciatic nerve compression
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Recurrent bacterial pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Oral fungal infection
|
disease |
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Localized candidiasis
|
disease |
Infections
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
14
|
0.630 |
strong |
1.000 |
26 |
14
|
2007 |
2018 |
Carcinoma ex pleomorphic adenoma of lacrimal gland
|
disease |
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Radiculopathy, Cervical
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Coronaropathy
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Devil Facial Tumor Disease
|
disease |
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Peripartum cardiomyopathy
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
2
|
4
|
0.200 |
None |
|
0 |
|
|
|
Prurigo
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Grade II Meningioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Short Stature, Idiopathic, Autosomal
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Adult Grade II Meningioma
|
disease |
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Childhood Grade II Meningioma
|
disease |
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Generalized abnormality of skin
|
disease |
|
Anatomical Abnormality
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
|
0.550 |
None |
1.000 |
6 |
|
2011 |
2019 |
Air cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Acquired Abnormality
|
4
|
1
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2019 |
Staphylococcal Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Supratentorial Glioblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Progression of adenocarcinoma
|
disease |
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Eosinophilic Fasciitis
|
disease |
Musculoskeletal Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |