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: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 54 9 0.800 limited 1.000 27 2 2003 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.550 1.000 7 2002 2015
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 370 33 0.500 0.910 68 1985 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.500 0.927 59 1989 2018
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 234 20 0.500 0.941 18 1989 2013
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 184 39 0.500 0.933 17 1993 2016
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms Pathologic Function 303 0.420 4 2002 2008
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 29 0.410 1.000 2 1988 2008
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 65 40 0.400 0.972 71 1986 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.400 1.000 31 1996 2017
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.400 1.000 31 1996 2017
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.400 1.000 22 1997 2018
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 396 11 0.400 1.000 22 1990 2016
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 231 13 0.400 1.000 17 1988 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2000 135 0.400 0.917 13 1 1996 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.400 1.000 12 1990 2013
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1320 7 0.400 0.800 11 1990 2005
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
disease Disease or Syndrome 1 1 0.400 1 1 2015 2015
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy
disease Congenital Abnormality 13 0.400 0
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.390 1.000 14 4 1995 2015
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 804 37 0.340 1.000 5 1988 2003
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1133 131 0.330 1.000 4 2002 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.330 0.500 3 2008 2017
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 777 24 0.320 1.000 3 1991 2012
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
group Neoplasms Neoplastic Process 445 9 0.320 1.000 3 1996 2007