Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
55
|
5
|
0.750 |
None |
1.000 |
5 |
|
1997 |
2016 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
343
|
52
|
0.140 |
None |
1.000 |
4 |
|
2010 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1219
|
153
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
246
|
68
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Facial Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Sign or Symptom
|
13
|
2
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hemophilia A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
142
|
36
|
0.100 |
None |
0.970 |
492 |
|
1975 |
2020 |
Severe hereditary factor VIII deficiency disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
37
|
15
|
0.100 |
None |
0.972 |
141 |
|
1982 |
2020 |
Hemophilia, NOS
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
81
|
6
|
0.100 |
None |
0.951 |
103 |
|
1975 |
2020 |
von Willebrand Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
49
|
0.100 |
None |
1.000 |
49 |
|
1975 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10153
|
1571
|
0.100 |
None |
0.935 |
46 |
|
1996 |
2020 |
Mild hereditary factor VIII deficiency disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
6
|
0.100 |
None |
0.947 |
38 |
|
1977 |
2019 |
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
233
|
27
|
0.100 |
None |
1.000 |
35 |
|
1975 |
2019 |
Hemophilia B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
19
|
0.100 |
None |
0.909 |
22 |
|
1976 |
2020 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8577
|
1441
|
0.100 |
None |
1.000 |
20 |
|
1977 |
2019 |
Venous Thromboembolism
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
270
|
106
|
0.100 |
None |
0.947 |
19 |
|
1996 |
2018 |
Thrombophilia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
149
|
43
|
0.100 |
None |
0.944 |
18 |
|
2000 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5541
|
769
|
0.100 |
None |
1.000 |
16 |
|
2009 |
2020 |
Activated Protein C Resistance
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
40
|
23
|
0.100 |
None |
0.938 |
16 |
|
1997 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
1.000 |
15 |
|
1977 |
2019 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6345
|
327
|
0.100 |
None |
1.000 |
14 |
|
1996 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6500
|
2145
|
0.100 |
None |
1.000 |
13 |
|
1997 |
2019 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6241
|
355
|
0.100 |
None |
1.000 |
13 |
|
2001 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6481
|
2154
|
0.100 |
None |
1.000 |
13 |
|
1997 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5011
|
1186
|
0.100 |
None |
1.000 |
12 |
|
2003 |
2019 |
Factor 8 deficiency, acquired
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
1.000 |
12 |
|
2017 |
2020 |