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: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.010 None 1.000 1 2017 2017
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		group Digestive System Diseases Disease or Syndrome 83 88 0.100 None 1.000 1 1 2018 2018
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 104 7 0.110 None 1.000 1 1 2017 2017
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 118 12 0.010 None 1.000 1 2010 2010
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.010 None 1.000 1 2019 2019
CUI: C1863753
Disease: LIMB-MAMMARY SYNDROME
LIMB-MAMMARY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 120 1 0.010 None 1.000 1 2010 2010
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.010 None 1.000 1 2018 2018
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal 		disease Neoplasms; Animal Diseases Neoplastic Process 144 0.300 None 1.000 1 2005 2005
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 1 2005 2005
CUI: C0022568
Disease: Keratitis
Keratitis 		disease Eye Diseases Disease or Syndrome 156 10 0.010 None 1.000 1 2014 2014
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.010 None 1.000 1 2017 2017
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		phenotype Neoplasms Neoplastic Process 186 2 0.300 None 1.000 1 2005 2005
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 moderate 1.000 1 2007 2007
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 199 39 0.020 None 1.000 2 2018 2018
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 202 12 0.010 None 1.000 1 2001 2001
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.300 None 1.000 1 2005 2005
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		disease Neoplasms Neoplastic Process 218 5 0.300 None 1.000 1 2005 2005
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 1 2005 2005
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		disease Neoplasms Neoplastic Process 283 8 0.300 None 1.000 1 2005 2005
CUI: C0003130
Disease: Anoxia
Anoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.010 None 1.000 1 2007 2007
CUI: C0040100
Disease: Thymoma
Thymoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.010 None 1.000 1 2015 2015