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: C1864730
Disease: Polyposis Syndrome, Hereditary Mixed, 2
Polyposis Syndrome, Hereditary Mixed, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 0.500 strong 1.000 1 2013 2013
CUI: C0392470
Disease: Anomalous atrioventricular excitation
Anomalous atrioventricular excitation 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 0.200 None 0
CUI: C2677102
Disease: Chromosome 10q23 Deletion Syndrome
Chromosome 10q23 Deletion Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 1 0.200 None 0
CUI: C2677290
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 4
COLORECTAL CANCER, SUSCEPTIBILITY TO, 4 		phenotype Finding 2 0.300 None 1.000 1 2006 2006
CUI: C2677291
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15 		phenotype Finding 2 0.300 None 1.000 1 2006 2006
CUI: C3714239
Disease: Bmpr1a-Related Juvenile Polyposis
Bmpr1a-Related Juvenile Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 2 0.300 None 0
CUI: C3714240
Disease: Smad4-Related Juvenile Polyposis
Smad4-Related Juvenile Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 2 0.300 None 0
CUI: C4021040
Disease: Freckled genitalia
Freckled genitalia 		phenotype Finding 2 0.100 None 0
CUI: C4023006
Disease: Juvenile colonic polyposis
Juvenile colonic polyposis 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1832940
Disease: JUVENILE POLYPOSIS OF STOMACH
JUVENILE POLYPOSIS OF STOMACH 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 3 0.800 definitive 1.000 5 2001 2009
CUI: C1844530
Disease: Midclavicular hypoplasia
Midclavicular hypoplasia 		phenotype Finding 3 0.100 None 0
CUI: C4023010
Disease: Hyperplastic colonic polyposis
Hyperplastic colonic polyposis 		disease Neoplastic Process 3 1 0.100 None 0
CUI: C1832587
Disease: POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 4 0.300 None 1.000 1 2006 2006
CUI: C0578477
Disease: Duodenal polyposis
Duodenal polyposis 		disease Neoplastic Process 5 2 0.100 None 0
CUI: C0018862
Disease: Heberden node
Heberden node 		phenotype Musculoskeletal Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2014 2014
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 15 0.010 None 1.000 1 1 2013 2013
CUI: C0267373
Disease: Intestinal hemorrhage NOS
Intestinal hemorrhage NOS 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 8 3 0.100 None 0
CUI: C4025811
Disease: Anemic pallor
Anemic pallor 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.100 None 0
CUI: C1868081
Disease: Juvenile Polyposis Coli
Juvenile Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 9 0.800 definitive 1.000 5 2001 2009
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 9 2 0.020 None 1.000 2 2001 2013
CUI: C0013481
Disease: Ebstein Anomaly
Ebstein Anomaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 10 3 0.200 None 0
CUI: C1403035
Disease: Subcutaneous lipoma
Subcutaneous lipoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 10 0.100 None 0
CUI: C0236048
Disease: Polyposis, Gastric
Polyposis, Gastric 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 12 4 0.110 None 1.000 1 2002 2002
CUI: C0034887
Disease: Rectal polyp
Rectal polyp 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 13 0.100 None 0
CUI: C1868071
Disease: Adenomatous colonic polyposis
Adenomatous colonic polyposis 		phenotype Digestive System Diseases; Neoplasms Finding 13 5 0.100 None 0