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: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		disease Disease or Syndrome 1 7 0.600 strong 1.000 2 7 2015 2019
CUI: C4540398
Disease: Thick ear helices
Thick ear helices 		phenotype Finding 1 1 0.100 None 1.000 1 1 2019 2019
CUI: C4021421
Disease: Abnormality of the proximal phalanx of the thumb
Abnormality of the proximal phalanx of the thumb 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C3179058
Disease: Corpus Callosum Malformation
Corpus Callosum Malformation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 2 0.300 None 1.000 1 2016 2016
CUI: C4025697
Disease: Gastrointestinal atresia
Gastrointestinal atresia 		disease Disease or Syndrome 3 0.100 None 0
CUI: C4021029
Disease: Conspicuously happy disposition
Conspicuously happy disposition 		phenotype Finding 4 0.100 None 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality 5 0.300 None 1.000 1 2016 2016
CUI: C0277873
Disease: Nasal Flaring
Nasal Flaring 		phenotype Sign or Symptom 5 0.100 None 0
CUI: C4023422
Disease: Long palm
Long palm 		phenotype Finding 5 2 0.100 None 0
CUI: C4551517
Disease: Flared nostrils abnormality
Flared nostrils abnormality 		phenotype Finding 6 1 0.100 None 0
CUI: C0270720
Disease: Hydrocephalus Ex-Vacuo
Hydrocephalus Ex-Vacuo 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2016 2016
CUI: C0477432
Disease: Post-Traumatic Hydrocephalus
Post-Traumatic Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2016 2016
CUI: C2936718
Disease: Fetal Cerebral Ventriculomegaly
Fetal Cerebral Ventriculomegaly 		disease Nervous System Diseases Congenital Abnormality 7 0.300 None 1.000 1 2016 2016
CUI: C0003079
Disease: Anisocoria
Anisocoria 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 7 5 0.100 None 0
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease Congenital Abnormality 8 2 0.100 None 0
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		disease Finding 9 3 0.300 moderate 1.000 1 2016 2016
CUI: C0240701
Disease: Small penis
Small penis 		phenotype Finding 11 2 0.100 None 0
CUI: C4073184
Disease: Thick hair
Thick hair 		phenotype Finding 16 3 0.100 None 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype Finding 17 0.100 None 0
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2016 2016
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 19 6 0.100 None 0
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 20 2 0.100 None 0
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 0.100 None 0
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		phenotype Finding 25 3 0.100 None 0
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 26 1 0.300 None 1.000 1 2016 2016