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: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 104 12 0.100 None 1.000 30 2006 2017
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.400 None 1.000 20 2007 2019
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 6 0.020 None 1.000 2 2012 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2004 2004
CUI: C0009677
Disease: Congenital macroglossia
Congenital macroglossia 		disease Stomatognathic Diseases Congenital Abnormality 7 0.010 None 1.000 1 2013 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2013 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2014 2014
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.010 None 1.000 1 2007 2007
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease Stomatognathic Diseases Disease or Syndrome 115 2 0.110 None 1.000 1 2013 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.110 None 1.000 1 2016 2016
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease Male Urogenital Diseases Disease or Syndrome 217 72 0.010 None 1.000 1 2017 2017
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 2005 2005
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 22 1 0.110 None 1.000 1 2013 2013
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2015 2015
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 164 17 0.010 None 1.000 1 2017 2017
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.010 None < 0.001 1 2011 2011
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.010 None 1.000 1 2013 2013
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 338 36 0.010 None 1.000 1 2016 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2017 2017
CUI: C1698581
Disease: Rokitansky Kuster Hauser syndrome
Rokitansky Kuster Hauser syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 27 3 0.010 None 1.000 1 2018 2018
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 11 0.010 None 1.000 1 2007 2007
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.010 None 1.000 1 2008 2008
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 2007 2007
CUI: C3536797
Disease: Ichthyosis Congenita II
Ichthyosis Congenita II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 7 0.010 None 1.000 1 2010 2010
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 2007 2007