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: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 16 0.700 None 1.000 15 15 2008 2020
CUI: C3151147
Disease: Bile Acid Synthesis Defect, Congenital, 3
Bile Acid Synthesis Defect, Congenital, 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.700 None 1.000 2 1 1998 2020
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 0.510 None 1.000 2 2010 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.490 None 1.000 11 4 2008 2017
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 0.320 None 1.000 3 2003 2009
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.320 None 1.000 2 2004 2007
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.320 None 1.000 2 2004 2007
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.310 None 1.000 2 1998 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.310 None 1.000 1 2007 2007
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		disease Neoplasms Neoplastic Process 133 3 0.300 None 1.000 1 2007 2007
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.300 None 1.000 1 2008 2008
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 123 0.300 None 1.000 1 2007 2007
CUI: C0751604
Disease: Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2008 2008
CUI: C0751605
Disease: X-Linked, Spastic Paraplegia, Hereditary
X-Linked, Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2008 2008
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.300 None 1.000 1 2013 2013
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2007 2007
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction 		phenotype Digestive System Diseases Finding 73 0.300 None 1.000 1 1998 1998
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2008 2008
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform 		disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2007 2007
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.300 None 1.000 1 1998 1998
CUI: C0023772
Disease: Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2008 2008
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.300 None 1.000 1 2013 2013
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell 		disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2007 2007
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.120 None 1.000 13 10 1998 2016
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.110 None 1.000 1 2009 2009