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: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 1 0.730 strong 1.000 5 1 2012 2019
CUI: C4025667
Disease: Partial absence of cerebellar vermis
Partial absence of cerebellar vermis 		disease Congenital Abnormality 2 0.100 None 0
CUI: C4476625
Disease: Abnormal temper tantrums
Abnormal temper tantrums 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 4 0.100 None 0
CUI: C4024166
Disease: Crumpled ear
Crumpled ear 		disease Finding 6 5 0.100 None 0 1
CUI: C0270820
Disease: Gelastic Epilepsy
Gelastic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 7 2 0.100 None 0
CUI: C3665983
Disease: Oral aversion
Oral aversion 		disease Mental or Behavioral Dysfunction 7 4 0.100 None 0
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 9 0.100 None 0
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		phenotype Neoplasms Finding 9 2 0.100 None 0 1
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3 		phenotype Finding 12 0.100 None 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		phenotype Finding 17 2 0.100 None 0
CUI: C0576225
Disease: Long foot
Long foot 		phenotype Musculoskeletal Diseases Finding 19 3 0.100 None 0
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype Finding 20 5 0.100 None 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 28 5 0.100 None 0
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 30 9 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand 		phenotype Finding 35 7 0.100 None 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		disease Congenital Abnormality 35 3 0.100 None 0
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 37 59 0.100 None 1.000 1 1 2019 2019
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease Cardiovascular Diseases Anatomical Abnormality 39 15 0.100 None 0 1
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 42 2 0.100 None 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype Eye Diseases Finding 50 14 0.100 None 0
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 51 3 0.100 None 0 1
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 69 11 0.100 None 0 1
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0 1
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0