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: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 8 0.760 None 0.875 8 6 2003 2014
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.040 None 1.000 4 2005 2018
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 5 0.340 None 1.000 4 2015 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.030 None 1.000 3 1 2007 2016
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.130 None 1.000 3 1 2015 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.030 None 1.000 3 1 2007 2016
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		disease Disease or Syndrome 1 5 0.600 None 1.000 3 5 2005 2015
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.310 moderate 1.000 2 2005 2020
CUI: C0039075
Disease: Syndactyly
Syndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.020 None 1.000 2 2005 2015
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.320 limited 1.000 2 1 2004 2012
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 3 0.310 None 1.000 2 1 2014 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 1 2007 2012
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.320 limited 1.000 2 2004 2012
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2008 2008
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 472 112 0.010 None 1.000 1 2012 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2017 2017
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 2013 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2008 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 2012 2012
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.010 None 1.000 1 2017 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 1 1 2018 2018
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.010 None 1.000 1 2020 2020
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.010 None 1.000 1 2011 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2008 2008
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2018 2018