Neurodegeneration with brain iron accumulation (NBIA)
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
2
|
0.100 |
None |
0.957 |
23 |
1
|
2011 |
2019 |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
disease |
|
Disease or Syndrome
|
2
|
18
|
0.730 |
None |
1.000 |
22 |
18
|
2010 |
2020 |
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.710 |
None |
1.000 |
8 |
3
|
2010 |
2015 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Hallervorden-Spatz Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
22
|
42
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2016 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2019 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.120 |
None |
1.000 |
2 |
|
2013 |
2019 |
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Behr syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
2
|
5
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Anarthria speech disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
11
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Infantile Neuroaxonal Dystrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
25
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Motor Neuron Disease, Lower
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
23
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Woodhouse Sakati syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
11
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
6
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
PARKINSON DISEASE, LATE-ONSET
|
disease |
|
Disease or Syndrome
|
247
|
76
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Juvenile amyotrophic lateral sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.100 |
None |
|
0 |
|
|
|