Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Autoimmune Lymphoproliferative Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
65
|
22
|
0.400 |
None |
1.000 |
14 |
4
|
1999 |
2019 |
Autoimmune Lymphoproliferative Syndrome, Type IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.730 |
strong |
1.000 |
4 |
1
|
1999 |
2011 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.120 |
None |
1.000 |
3 |
1
|
2003 |
2019 |
Autoimmune Lymphoproliferative Syndrome Type 2B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
14
|
2
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2009 |
Airway Obstruction
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
110
|
5
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Autoimmune hemolytic anemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
81
|
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.010 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Influenza
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
858
|
17
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.110 |
None |
< 0.001 |
1 |
|
2009 |
2009 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Bronchial Hyperreactivity
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
112
|
18
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Systemic onset juvenile chronic arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
90
|
53
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Recurrent skin infections
|
phenotype |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
95
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
HYDATIDIFORM MOLE, RECURRENT, 1
|
disease |
|
Disease or Syndrome
|
66
|
14
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Arthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1072
|
69
|
0.100 |
None |
|
0 |
|
|
|
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.100 |
None |
|
0 |
|
|
|
Eosinophilia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
325
|
23
|
0.100 |
None |
|
0 |
|
|
|
Gastritis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
292
|
21
|
0.100 |
None |
|
0 |
|
|
|
Glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
391
|
7
|
0.100 |
None |
|
0 |
|
|
|