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: C0543612
Disease: Cervical syndrome
Cervical syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2006 2006
CUI: C4016751
Disease: ANTERIOR SEGMENT ANOMALIES AND CATARACT
ANTERIOR SEGMENT ANOMALIES AND CATARACT 		disease Finding 1 1 0.100 None 0 1
CUI: C4016752
Disease: BRANCHIOOTORENAL SYNDROME WITH CATARACT
BRANCHIOOTORENAL SYNDROME WITH CATARACT 		disease Finding 1 1 0.100 None 0 1
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: C1862052
Disease: Gustatory lacrimation
Gustatory lacrimation 		phenotype Finding 2 0.100 None 0
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: C4021154
Disease: Enlarged cochlear aqueduct
Enlarged cochlear aqueduct 		phenotype Finding 3 0.100 None 0
CUI: C0546969
Disease: Preauricular Fistulae, Congenital
Preauricular Fistulae, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 0.040 None 1.000 4 2001 2003
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: C0265246
Disease: Townes syndrome
Townes syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 9 0.010 None 1.000 1 2006 2006
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: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4021762
Disease: Abnormality of the cerebrum
Abnormality of the cerebrum 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		phenotype Finding 4 1 0.100 None 0
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: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 5 42 0.010 None 1.000 1 2006 2006
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 5 11 0.010 None 1.000 1 2006 2006
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		phenotype Finding 5 1 0.100 None 0
CUI: C1862050
Disease: Cochlear malformation
Cochlear malformation 		phenotype Finding 5 0.100 None 0
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: C1857456
Disease: Morphological abnormality of the middle ear
Morphological abnormality of the middle ear 		phenotype Anatomical Abnormality 6 0.100 None 0
CUI: C0302859
Disease: Euthyroid Goiter
Euthyroid Goiter 		disease Endocrine System Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C1839816
Disease: Long neck
Long neck 		phenotype Finding 7 3 0.100 None 0
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		phenotype Finding 7 2 0.100 None 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		phenotype Finding 7 0.100 None 0