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: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.710 None 1.000 2 1 2003 2013
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.300 strong 1.000 2 2003 2013
CUI: C4747366
Disease: Hypercholanemia
Hypercholanemia 		phenotype Finding 1 0.300 limited 0
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.220 None 1.000 2 1995 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 26 1997 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 1.000 12 1999 2019
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C4023004
Disease: Increased serum bile acid concentration
Increased serum bile acid concentration 		phenotype Finding 5 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 56 42 0.100 None 0 2
CUI: C0035579
Disease: Rickets
Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.090 None 1.000 9 2010 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.090 None 1.000 9 2001 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.080 None 1.000 8 2001 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.050 None 1.000 5 1999 2009
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.040 None 1.000 4 1999 2008
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.030 None 1.000 3 2016 2019
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.030 None 1.000 3 1999 2006
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.030 None 1.000 3 2002 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.030 None 1.000 3 1997 2006
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.020 None 1.000 2 2001 2005
CUI: C0392331
Disease: Arachnophobia
Arachnophobia 		disease Mental Disorders Mental or Behavioral Dysfunction 3 0.020 None 1.000 2 2018 2019
CUI: C0085624
Disease: Burning sensation
Burning sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 30 0.020 None 1.000 2 2019 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2000 2004