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: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 14 0.800 definitive 0.979 48 1996 2018
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 24 0.710 None 1.000 19 21 1997 2018
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 10 0.710 None 1.000 7 8 1998 2018
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.620 strong 1.000 3 1998 2006
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 0.540 None 1.000 6 1998 2018
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1
disease Disease or Syndrome 16 10 0.420 None 1.000 3 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 291 5 0.410 None 1.000 1 1999 1999
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.400 strong 1.000 1 1998 1998
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 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 1098 73 0.350 None 1.000 6 1999 2018
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 16 0.310 None 1.000 2 2000 2003
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.310 None 1.000 1 1999 1999
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 25 2 0.310 None 1.000 1 2005 2005
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
disease Disease or Syndrome 2 0.300 None 1.000 2 1998 2013
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.300 None 1.000 1 2005 2005
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: C0265780
Disease: Congenital absence of lung
Congenital absence of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 11 0.200 None 1.000 1 2014 2014
Congenital ear anomaly NOS (disorder)
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.130 None 1.000 3 2001 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2010 2010
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.110 None 1.000 1 1980 1980
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.110 None 1.000 1 2018 2018
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 81 3 0.110 None 1.000 1 1980 1980
CUI: C0006131
Disease: Branchioma
Branchioma
disease Neoplasms Congenital Abnormality 10 0.110 None 1.000 1 2014 2014
CUI: C0006272
Disease: Bronchiolitis Obliterans
Bronchiolitis Obliterans
disease Respiratory Tract Diseases Disease or Syndrome 93 5 0.100 None 1.000 11 1998 2018
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 4 5 2015 2019