Source: INFERRED ×
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: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		disease Disease or Syndrome 1 0.600 strong 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 266 0.110 None 1.000 1 1 2014 2019
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 0.100 None 1.000 1 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 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 10 0.100 None 1.000 1 1 2017 2017
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 100 0.100 None 1.000 1 1 2017 2017
CUI: C1301937
Disease: Talipes
Talipes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 72 0.100 None 1.000 1 1 2017 2017
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		phenotype Finding 5 0.100 None 1.000 1 1 2017 2017
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 20 0.100 None 1.000 1 1 2017 2017
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 66 0.100 None 1.000 1 2 2017 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 0.100 None 1.000 1 1 2017 2017
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		phenotype Congenital Abnormality 13 0.100 None 1.000 1 1 2017 2017
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 0.100 None 1.000 1 1 2017 2017
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		phenotype Finding 3 0.100 None 1.000 1 2 2017 2017
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		disease Anatomical Abnormality 16 0.100 None 1.000 1 1 2017 2017
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		phenotype Finding 4 0.100 None 1.000 1 1 2017 2017
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 82 0.100 None 1.000 1 1 2017 2017
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease Musculoskeletal Diseases Congenital Abnormality 39 0.100 None 1.000 1 2 2017 2017
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 52 0.100 None 1.000 1 1 2017 2017
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 622 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 250 0.100 None 1.000 1 1 2017 2017
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 140 0.100 None 1.000 1 1 2017 2017
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 48 0.100 None 1.000 1 1 2017 2017
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 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 31 0.100 None 1.000 1 1 2017 2017