Source: CLINVAR ×
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 2 0.600 strong 1.000 1 2 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 39 44 0.100 None 1.000 1 1 2017 2017
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 9 10 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 3 2 0.100 None 1.000 1 1 2017 2017
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 3 3 0.100 None 1.000 1 1 2017 2017
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 3 5 0.100 None 1.000 1 2 2017 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 1 2017 2017
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		phenotype Congenital Abnormality 2 2 0.100 None 1.000 1 1 2017 2017
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		phenotype Finding 1 2 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 1 1 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 1 1 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 6 6 0.100 None 1.000 1 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 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 37 43 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 15 16 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 3 3 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 2 2 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 6 7 0.100 None 1.000 1 1 2017 2017
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 6 0.100 None 1.000 1 1 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 22 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 2 2 0.100 None 1.000 1 1 2017 2017
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 1.000 1 1 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 3 3 0.100 None 1.000 1 1 2017 2017