Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital hypoplasia of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
175
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Macroencephaly
|
disease |
|
Congenital Abnormality
|
22
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
CUI: |
C0010709 |
Disease: |
Cyst
|
Cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Disease or Syndrome
|
221
|
6
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Polycystic Ovary Syndrome
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
988
|
363
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Atrophy of testis
|
disease |
Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
29
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
5q-syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
45
|
1
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Sclerocystic Ovaries
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
144
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Autoimmune Lymphoproliferative Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
65
|
22
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Benign Prostatic Hyperplasia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
770
|
91
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Chromosome 5, trisomy 5q
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
1
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gestational trophoblastic disease
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
75
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
19 |
|
1998 |
2020 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
13 |
|
1999 |
2020 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.100 |
None |
1.000 |
12 |
|
2003 |
2020 |