Source: CURATED ×
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: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.800 definitive 0.979 7 1996 2018
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 22 0.710 None 1.000 9 21 1997 2018
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 7 0.710 None 1.000 6 7 1998 2018
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0.620 strong 1.000 2 1998 2006
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0.540 None 1.000 2 1998 2018
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		disease Disease or Syndrome 1 3 0.420 None 1.000 2 3 1998 2019
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 4 0.410 None 1.000 1 1999 1999
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 98 261 0.400 strong 1.000 1 1998 1998
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 41 11 0.400 strong 1.000 1 1998 1998
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 11 0.350 None 1.000 1 1999 2018
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 10 2 0.310 None 1.000 1 2005 2005
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 156 0.310 None 1.000 1 1999 1999
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 16 0.310 None 1.000 1 2000 2003
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		disease Disease or Syndrome 2 0.300 None 1.000 2 1998 2013
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 4 0.300 None 1.000 1 2003 2003
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 44 18 0.300 None 1.000 1 2005 2005