NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.700 |
strong |
1.000 |
2 |
2
|
2013 |
2013 |
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
68
|
11
|
0.540 |
strong |
1.000 |
4 |
3
|
2013 |
2019 |
Severe congenital neutropenia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
66
|
26
|
0.340 |
None |
1.000 |
4 |
3
|
2013 |
2019 |
Congenital neutropenia, myelofibrosis, nephromegaly syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Familial myelofibrosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.110 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.110 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Extramedullary Hematopoiesis Function
|
phenotype |
|
Organ or Tissue Function
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
|
0 |
|
|
|
Increased antibody level in blood
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infections
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
|
Finding
|
127
|
14
|
0.100 |
None |
|
0 |
|
|
|
Primary Myelofibrosis
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
282
|
29
|
0.040 |
None |
1.000 |
4 |
2
|
2013 |
2019 |
Myelofibrosis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
163
|
7
|
0.030 |
None |
1.000 |
3 |
2
|
2013 |
2019 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Protein Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
125
|
2
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Extramedullary Hematopoiesis (disorder)
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
52
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Infection by Cryptococcus neoformans
|
disease |
Infections
|
Disease or Syndrome
|
167
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |