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: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.800 strong 0.978 46 1 1996 2020
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: 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: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.050 None 0.800 5 2017 2019
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: 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: 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: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.620 strong 1.000 3 2009 2017
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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 0.500 2 2001 2015
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
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		disease Infections Disease or Syndrome 337 56 0.020 None 1.000 2 1 2015 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 0.500 2 2001 2015
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: 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: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2009 2009
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.110 None 1.000 1 1 2019 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2013 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 1 1 2015 2015
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