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: C1832471
Disease: Renal dysplasia diffuse cystic
Renal dysplasia diffuse cystic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 1 0.720 None 1.000 4 1 2009 2019
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		phenotype Finding 2 3 0.100 None 0
CUI: C4021862
Disease: Absent epiphyses
Absent epiphyses 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4025010
Disease: Coat hanger sign of ribs
Coat hanger sign of ribs 		disease Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C0030846
Disease: Penile Diseases
Penile Diseases 		group Male Urogenital Diseases Disease or Syndrome 4 0.300 None 1.000 1 2009 2009
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 38 0.300 None 1.000 1 2009 2009
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis 		phenotype Finding 4 0.100 None 0
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 5 0.300 None 1.000 2 2009 2013
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		phenotype Wounds and Injuries Pathologic Function 5 1 0.100 None 0 1
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 1 0.100 None 0 1
CUI: C1836393
Disease: Abnormality of ocular smooth pursuit
Abnormality of ocular smooth pursuit 		phenotype Finding 5 0.100 None 0
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia 		phenotype Congenital Abnormality 5 2 0.100 None 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		phenotype Finding 5 0.100 None 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		phenotype Finding 7 0.100 None 0
CUI: C0278152
Disease: Hemifacial Spasm
Hemifacial Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 8 0.100 None 0
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.300 None 1.000 1 2009 2009
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
Apraxia, oculomotor, Cogan type 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Congenital Abnormality 10 2 0.010 None 1.000 1 2016 2016
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		phenotype Finding 10 5 0.100 None 0 1
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		phenotype Finding 11 4 0.100 None 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 22 3 0.100 None 0 1
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype Finding 25 1 0.100 None 0