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: C2674853
Disease: Subperiosteal bone formation
Subperiosteal bone formation
phenotype Finding 1 0.100 None 0
CUI: C0266039
Disease: Taurodontism
Taurodontism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.100 None 0
CUI: C0342649
Disease: Vascular calcification
Vascular calcification
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.100 None 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.100 None 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.100 None 0
CUI: C1527284
Disease: Dental Pulp Stone
Dental Pulp Stone
disease Stomatognathic Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.100 None 0
Decreased renal tubular phosphate excretion
phenotype Finding 1 0.100 None 0
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
disease Eye Diseases Disease or Syndrome 13 90 0.100 None 0
Conjunctival whitish salt-like deposits
phenotype Finding 1 0.100 None 0
Increased renal tubular phosphate reabsorption
phenotype Finding 1 0.100 None 0
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2007 2007
CUI: C0521174
Disease: Microcalcification
Microcalcification
phenotype Nutritional and Metabolic Diseases Pathologic Function 42 0.300 None 1.000 1 2007 2007
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2018 2018
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.010 None 1.000 1 2018 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2005 2005
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2011 2011
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.010 None 1.000 1 2009 2009
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2011 2011
Autosomal recessive hypophosphatemic vitamin D refractory rickets
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2017 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2004 2004
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2004 2004
CUI: C0854985
Disease: Adenocarcinoma of lung, stage I
Adenocarcinoma of lung, stage I
disease Neoplastic Process 37 1 0.010 None 1.000 1 2004 2004
CUI: C1864873
Disease: Testicular Microlithiasis
Testicular Microlithiasis
disease Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 4 0.010 None 1.000 1 1 2006 2006