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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 20 3 0.100 None 1.000 1 1 2017 2017
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 1.000 1 2 2017 2017
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 23 0.100 None 1.000 1 1 2017 2017
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 234 19 0.100 None 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		disease Anatomical Abnormality 16 1 0.100 None 1.000 1 1 2017 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 1.000 1 1 2017 2017
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None 1.000 1 2014 2014
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 0.100 None 1.000 1 1 2017 2017
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		phenotype Congenital Abnormality 13 2 0.100 None 1.000 1 1 2017 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 96 8 0.100 None 1.000 1 1 2017 2017
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.300 strong 1.000 1 2017 2017
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease Musculoskeletal Diseases Congenital Abnormality 40 6 0.100 None 1.000 1 2 2017 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2010 2010
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 1 1 2017 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.200 None 1.000 1 1989 1989
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		phenotype Finding 5 1 0.100 None 1.000 1 1 2017 2017
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 52 7 0.100 None 1.000 1 1 2017 2017
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		phenotype Finding 3 2 0.100 None 1.000 1 2 2017 2017
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.110 None 1.000 2 1 2014 2019
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		phenotype Finding 4 1 0.100 None 1.000 1 1 2017 2017
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 2 0.100 None 1.000 1 1 2017 2017
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 11 6 0.100 None 1.000 1 1 2017 2017
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.010 None 1.000 1 2010 2010