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: C0859055
Disease: Oedema vascular
Oedema vascular 		phenotype Disease or Syndrome 1 0.010 None 1.000 1 2000 2000
CUI: C3888808
Disease: Hepatic hypertrophy
Hepatic hypertrophy 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2015 2015
CUI: C1838327
Disease: Polycystic kidneys, severe infantile with tuberous sclerosis
Polycystic kidneys, severe infantile with tuberous sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 2 2004 2011
CUI: C0585265
Disease: Hypoglossal Nerve Palsy
Hypoglossal Nerve Palsy 		disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 18 0.010 None 1.000 1 2018 2018
CUI: C0751815
Disease: Carotid Artery, Internal, Dissection
Carotid Artery, Internal, Dissection 		disease Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 4 1 0.010 None 1.000 1 2019 2019
CUI: C3899154
Disease: familial testicular germ cell tumor
familial testicular germ cell tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 4 0.010 None 1.000 1 2017 2017
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		phenotype Finding 4 1 0.100 None 0 1
CUI: C0858213
Disease: vascular aneurysm
vascular aneurysm 		disease Anatomical Abnormality 5 0.010 None 1.000 1 2010 2010
CUI: C3887964
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		disease Disease or Syndrome 6 9 0.100 None 1.000 5 5 1999 2014
CUI: C0085808
Disease: Aneurysm, Mycotic
Aneurysm, Mycotic 		disease Infections; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C0854443
Disease: Vascular fragility
Vascular fragility 		phenotype Disease or Syndrome 6 0.010 None 1.000 1 2000 2000
CUI: C3825879
Disease: Otitis media in children
Otitis media in children 		disease Otorhinolaryngologic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C0162510
Disease: Caroli Disease
Caroli Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome; Congenital Abnormality 8 1 0.010 None 1.000 1 1997 1997
CUI: C0242084
Disease: Ruptured cerebral aneurysm
Ruptured cerebral aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 0.010 None 1.000 1 2014 2014
CUI: C0887850
Disease: Polycystic Kidney, Type 1 Autosomal Dominant Disease
Polycystic Kidney, Type 1 Autosomal Dominant Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 10 2 0.300 None 1.000 6 1994 2017
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		disease Anatomical Abnormality 12 4 0.100 None 0 1
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 13 0.010 None 1.000 1 2010 2010
CUI: C2751306
Disease: Polycystic kidney disease, type 2
Polycystic kidney disease, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 41 0.370 None 1.000 13 1994 2018
CUI: C0012811
Disease: Colon diverticulum anatomic structure
Colon diverticulum anatomic structure 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C0334054
Disease: cystic disease
cystic disease 		disease Disease or Syndrome 19 0.060 None 1.000 6 1999 2016
CUI: C3887980
Disease: Protanomaly
Protanomaly 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 19 1 0.010 None < 0.001 1 2017 2017
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype Finding 19 4 0.100 None 0 1
CUI: C2316787
Disease: Chronic kidney disease stage 3
Chronic kidney disease stage 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2006 2006
CUI: C0267834
Disease: Liver cyst
Liver cyst 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 26 5 0.140 None 1.000 4 3 1999 2018