Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Legg-Calve-Perthes Disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
36
|
9
|
0.010 |
None |
1.000 |
1 |
|
1976 |
1976 |
Avascular necrosis of the capital femoral epiphysis
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
1976 |
1976 |
Christ-Siemens-Touraine syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
45
|
78
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Anhydrotic Ectodermal Dysplasias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
29
|
2
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Candidiasis of vagina
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections
|
Disease or Syndrome
|
20
|
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Small cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
972
|
125
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
MAJOR AFFECTIVE DISORDER 9
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
126
|
8
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
MAJOR AFFECTIVE DISORDER 1
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
161
|
34
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
MAJOR AFFECTIVE DISORDER 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
|
Mental or Behavioral Dysfunction
|
185
|
34
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
MAJOR AFFECTIVE DISORDER 4
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
160
|
34
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Familial hypercholesterolemia - heterozygous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
42
|
34
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
MAJOR AFFECTIVE DISORDER 6
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
160
|
34
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
MAJOR AFFECTIVE DISORDER 7
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
127
|
8
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
MAJOR AFFECTIVE DISORDER 8
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
126
|
8
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Rhinovirus infection
|
disease |
Infections
|
Disease or Syndrome
|
202
|
4
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Myxoid chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
9
|
|
0.020 |
None |
1.000 |
2 |
|
1996 |
1997 |
Hereditary Factor XI Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
119
|
0.010 |
None |
< 0.001 |
1 |
|
1997 |
1997 |
Factor XI Deficiency
|
disease |
|
Disease or Syndrome
|
6
|
9
|
0.010 |
None |
< 0.001 |
1 |
|
1997 |
1997 |
Secondary Neoplasm
|
group |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
2492
|
85
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Hereditary Sensory Autonomic Neuropathy, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
32
|
14
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Mycosis Fungoides
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
251
|
8
|
0.010 |
None |
< 0.001 |
1 |
|
1999 |
1999 |
Hypercalcemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
157
|
9
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Gilles de la Tourette syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
177
|
63
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |