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: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.010 None 1.000 1 2015 2015
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.010 None 1.000 1 2012 2012
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
disease Eye Diseases Disease or Syndrome 69 15 0.010 None 1.000 1 2012 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.010 None 1.000 1 2006 2006
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 1 2013 2013
CUI: C0312420
Disease: Hypersexuality state
Hypersexuality state
disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 8 2 0.010 None 1.000 1 2018 2018
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
disease Eye Diseases Disease or Syndrome 39 11 0.010 None 1.000 1 2016 2016
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 1 2019 2019
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 1 2009 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None < 0.001 1 2008 2008
Xeroderma Pigmentosum, Complementation Group D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 111 0.010 None 1.000 1 2012 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2018 2018
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172 0.010 None < 0.001 1 2008 2008
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.010 None 1.000 1 2013 2013
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 140 0.010 None 1.000 1 2008 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2016 2016
CUI: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 1 2014 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 2015 2015
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184 0.010 None < 0.001 1 2008 2008
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2011 2011
CUI: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 2002 2002
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections
group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 645 11 0.010 None 1.000 1 2010 2010
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2017 2017
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 24 0.010 None 1.000 1 2 2012 2012
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2008 2008