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: C0005942
Disease: Bone Diseases, Endocrine
Bone Diseases, Endocrine 		group Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2008 2008
CUI: C0157738
Disease: Chronic skin ulcer
Chronic skin ulcer 		disease Skin and Connective Tissue Diseases Disease or Syndrome 9 0.200 None 1.000 1 2005 2005
CUI: C3489628
Disease: Thrombocytosis, Autosomal Dominant
Thrombocytosis, Autosomal Dominant 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.300 None 1.000 1 2005 2005
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 15 24 0.010 None 1.000 1 1999 1999
CUI: C1367536
Disease: Nasopharyngeal Angiofibroma
Nasopharyngeal Angiofibroma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2017 2017
CUI: C0027086
Disease: Myoma
Myoma 		disease Neoplasms Neoplastic Process 28 4 0.010 None 1.000 1 2005 2005
CUI: C0280788
Disease: Anaplastic Ependymoma
Anaplastic Ependymoma 		disease Neoplasms Neoplastic Process 28 1 0.010 None < 0.001 1 1991 1991
CUI: C1332199
Disease: Adult Desmoplastic Small Round Cell Tumor
Adult Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2005 2005
CUI: C1332966
Disease: Childhood Desmoplastic Small Round Cell Tumor
Childhood Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2005 2005
CUI: C0281508
Disease: Desmoplastic Small Round Cell Tumor
Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 43 0.010 None 1.000 1 2005 2005
CUI: C1519176
Disease: Salivary Gland Pleomorphic Adenoma
Salivary Gland Pleomorphic Adenoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 63 9 0.010 None 1.000 1 2012 2012
CUI: C0403592
Disease: Chronic rejection of renal transplant
Chronic rejection of renal transplant 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 1 0.200 None 1.000 1 2002 2002
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 78 8 0.200 None 1.000 1 2007 2007
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		disease Neoplasms Neoplastic Process 80 5 0.010 None 1.000 1 2005 2005
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		disease Neoplasms Neoplastic Process 84 12 0.010 None 1.000 1 2007 2007
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		disease Respiratory Tract Diseases Disease or Syndrome 91 4 0.300 None 1.000 1 2006 2006
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.010 None 1.000 1 2006 2006
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.200 None 1.000 1 2007 2007
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 130 68 0.300 None 1.000 1 2002 2002
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		disease Respiratory Tract Diseases Disease or Syndrome 133 12 0.010 None 1.000 1 2007 2007
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.010 None 1.000 1 2006 2006
CUI: C0235989
Disease: Renal interstitial fibrosis
Renal interstitial fibrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 138 0.010 None 1.000 1 1997 1997
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal 		disease Neoplasms; Animal Diseases Neoplastic Process 144 0.300 None 1.000 2 2002 2005
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 2 2002 2005
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 1993 1993