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: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 80 42 0.800 None 1.000 22 32 1995 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.160 None 0.833 6 1 2016 2019
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.050 None 0.800 5 2017 2019
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 69 0.330 None 1.000 5 2004 2015
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.040 None 1.000 4 1 2015 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.040 None 1.000 4 1 2015 2018
CUI: C4551689
Disease: Sleep-Disordered Breathing
Sleep-Disordered Breathing
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 65 0.040 None 1.000 4 2017 2019
CUI: C0013146
Disease: Drug abuse
Drug abuse
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.030 None 1.000 3 2017 2020
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.030 None 1.000 3 2017 2019
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 1 0.020 None 1.000 2 2004 2015
Infection caused by Helicobacter pylori
disease Infections Disease or Syndrome 337 56 0.020 None 1.000 2 1 2015 2018
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
disease Digestive System Diseases Disease or Syndrome 203 61 0.020 None 1.000 2 1 2015 2017
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 2 2012 2012
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.020 None 0.500 2 2005 2017
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.020 None 1.000 2 2002 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 0.500 2 2001 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 0.500 2 2001 2015
CUI: C0221392
Disease: Atrophic Vaginitis
Atrophic Vaginitis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2016 2016
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.010 None 1.000 1 2001 2001
CUI: C0156409
Disease: Postmenopausal atrophic vaginitis
Postmenopausal atrophic vaginitis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2018 2018
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.010 None < 0.001 1 2017 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.010 None 1.000 1 2018 2018
CUI: C1883018
Disease: Severe Aplastic Anemia
Severe Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 70 4 0.010 None 1.000 1 2018 2018