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: C0235299
Disease: Right upper quadrant pain
Right upper quadrant pain 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C1867396
Disease: RADIAL-RENAL SYNDROME
RADIAL-RENAL SYNDROME 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.010 None 1.000 1 1990 1990
CUI: C0017927
Disease: Glycogen Storage Disease Type VIII
Glycogen Storage Disease Type VIII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 10 13 0.020 None 1.000 2 2017 2019
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2002 2002
CUI: C0264010
Disease: Hepatic osteodystrophy
Hepatic osteodystrophy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 2015 2015
CUI: C4551984
Disease: Arthrogryposis with renal dysfunction and cholestasis syndrome
Arthrogryposis with renal dysfunction and cholestasis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 0.020 None 0.500 2 2014 2018
CUI: C3839589
Disease: Secondary osteoporosis
Secondary osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 15 0.010 None 1.000 1 2015 2015
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 16 13 0.020 None 0.500 2 2014 2018
CUI: C4289709
Disease: DOCK8 Deficiency
DOCK8 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 18 0.010 None 1.000 1 2019 2019
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 19 0.010 None < 0.001 1 2014 2014
CUI: C0311361
Disease: Adenomatous goiter
Adenomatous goiter 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 23 4 0.010 None 1.000 1 1993 1993
CUI: C3854388
Disease: Hyperferritinaemia
Hyperferritinaemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2018 2018
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 31 10 0.040 None 1.000 4 1997 2018
CUI: C0861727
Disease: Pancreatic adenocarcinoma metastatic
Pancreatic adenocarcinoma metastatic 		disease Neoplastic Process 32 2 0.010 None 1.000 1 1986 1986
CUI: C0022353
Disease: Neonatal Jaundice
Neonatal Jaundice 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 33 2 0.010 None 1.000 1 2010 2010
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.010 None 1.000 1 2018 2018
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		disease Digestive System Diseases Disease or Syndrome 38 19 0.030 None 1.000 3 1997 2014
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Congenital Abnormality 38 18 0.010 None 1.000 1 2010 2010
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		disease Disease or Syndrome 42 28 0.010 None 1.000 1 2017 2017
CUI: C3163918
Disease: Tumor thrombus
Tumor thrombus 		phenotype Cardiovascular Diseases Disease or Syndrome 50 3 0.010 None 1.000 1 2016 2016
CUI: C0403824
Disease: Teratozoospermia
Teratozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 2019 2019
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 0.010 None 1.000 1 2019 2019
CUI: C0424166
Disease: Social Anxiety
Social Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 57 6 0.010 None 1.000 1 2009 2009
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		disease Digestive System Diseases Disease or Syndrome 58 0.010 None 1.000 1 2015 2015