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: C0221363
Disease: Bifid nose
Bifid nose 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 0.100 None 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		phenotype Finding 6 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 0.100 None 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype Finding 60 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2019 2019
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 22 10 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 241 69 0.010 None 1.000 1 2019 2019
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 None 0
CUI: C1856027
Disease: Cleft in skull base
Cleft in skull base 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.010 None 1.000 1 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 1 2016 2016
CUI: C0221360
Disease: Congenital absence of diaphragm
Congenital absence of diaphragm 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases Congenital Abnormality 1 0.100 None 0
CUI: C0265766
Disease: Congenital atresia of trachea
Congenital atresia of trachea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 4 0.100 None 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 6 0.100 None 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.100 None 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 137 9 0.100 None 0
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 1 2016 2016
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 92 6 0.010 None 1.000 1 2019 2019
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		phenotype Finding 6 0.100 None 0