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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.070 None 1.000 7 2002 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 0.800 5 2002 2019
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.030 None 1.000 3 2017 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.020 None 1.000 2 2011 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.020 None 1.000 2 2005 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.020 None 1.000 2 2007 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 1994 2018
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.020 None 1.000 2 1993 1994
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 1.000 2 2000 2017
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis
disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.020 None 1.000 2 2005 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2013 2018
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2013 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.020 None 1.000 2 1997 1999
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.020 None 1.000 2 2018 2018
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.010 None 1.000 1 2018 2018
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: C0234252
Disease: Mechanical pain
Mechanical pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 30 4 0.010 None 1.000 1 2018 2018
CUI: C4706503
Disease: Distal monosomy 3p syndrome
Distal monosomy 3p syndrome
disease Disease or Syndrome 6 0.010 None 1.000 1 2007 2007
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 81 46 0.010 None 1.000 1 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2002 2002
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.010 None 1.000 1 2018 2018
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
CUI: C1832394
Disease: Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 12
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 57 0.500 moderate 1.000 1 2007 2007
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: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 9 36 0.010 None 1.000 1 2008 2008