Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 107 5 0.080 None 1.000 8 2015 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.070 None 0.857 7 1997 2018
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
disease Endocrine System Diseases Disease or Syndrome 82 25 0.310 None 1.000 2 2013 2015
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.020 None 1.000 2 1980 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.310 None 1.000 2 2013 2017
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 84 6 0.310 None 1.000 2 2013 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2002 2007
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.020 None 1.000 2 1980 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2002 2007
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.120 None 0.500 2 2013 2016
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular
disease Neoplasms Neoplastic Process 37 0.300 None 1.000 1 2013 2013
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2016 2016
CUI: C0234366
Disease: Ataxic
Ataxic
phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2017 2017
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 98 0.010 None 1.000 1 2017 2017
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma
disease Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2013 2013
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.010 None 1.000 1 2017 2017
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.010 None 1.000 1 1996 1996
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.010 None 1.000 1 2016 2016
CUI: C3713420
Disease: Familial Hyperaldosteronism
Familial Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2016 2016
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 24 35 0.010 None 1.000 1 1985 1985
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 2020 2020
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 8 0.010 None 1.000 1 1999 1999
CUI: C3178766
Disease: Nociceptive Pain
Nociceptive Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.010 None 1.000 1 2019 2019
CUI: C0205649
Disease: Adenoma, Monomorphic
Adenoma, Monomorphic
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2013 2013
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic
disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 2013 2013