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.
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 9 3 0.800 None 1.000 17 1 2004 2019
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
disease Disease or Syndrome 3 18 0.800 strong 1.000 6 14 2004 2016
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder)
disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.480 None 1.000 9 1 2007 2017
CUI: C0006663
Disease: Calcinosis
Calcinosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.430 None 1.000 4 2004 2008
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 45 3 0.380 None 1.000 9 2005 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.310 None 1.000 2 2005 2007
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: C0477548
Disease: Other chondrocalcinosis
Other chondrocalcinosis
disease Musculoskeletal Diseases Disease or Syndrome 2 0.200 None 1.000 2 2009 2012
Calcium pyrophosphate deposition disease
disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.200 None 1.000 2 2009 2012
CUI: C0020492
Disease: Hyperostosis
Hyperostosis
disease Musculoskeletal Diseases Disease or Syndrome 50 3 0.130 None 1.000 3 1 2008 2014
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2018 2018
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: C1527284
Disease: Dental Pulp Stone
Dental Pulp Stone
disease Stomatognathic Diseases Disease or Syndrome 3 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
Increased renal tubular phosphate reabsorption
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: C2674853
Disease: Subperiosteal bone formation
Subperiosteal bone formation
phenotype Finding 1 0.100 None 0
Conjunctival whitish salt-like deposits
phenotype Finding 1 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
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.090 None 1.000 9 3 1997 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.050 None 1.000 5 2004 2012