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: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 1 4 0.730 None 1.000 4 4 2012 2019
CUI: C4022381
Disease: Broad 2nd toe
Broad 2nd toe 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0424323
Disease: Physical aggression
Physical aggression 		phenotype Behavior and Behavior Mechanisms Individual Behavior 2 0.100 None 0
CUI: C3554612
Disease: Contracture of the proximal interphalangeal joint of the 5th finger
Contracture of the proximal interphalangeal joint of the 5th finger 		phenotype Finding 3 0.100 None 0
CUI: C4023987
Disease: Aplasia/Hypoplasia of the phalanges of the toes
Aplasia/Hypoplasia of the phalanges of the toes 		phenotype Finding 3 0.100 None 0
CUI: C1848670
Disease: Aplasia/Hypoplasia of the phalanges of the hand
Aplasia/Hypoplasia of the phalanges of the hand 		phenotype Finding 4 0.100 None 0
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 7 8 0.300 None 1.000 1 2015 2015
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		phenotype Finding 9 2 0.100 None 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		phenotype Anatomical Abnormality 9 0.100 None 0
CUI: C0242855
Disease: Congenital atresia of pulmonary valve
Congenital atresia of pulmonary valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 3 0.100 None 0
CUI: C0424688
Disease: Small head
Small head 		phenotype Finding 11 1 0.100 None 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		phenotype Finding 11 1 0.100 None 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		phenotype Finding 13 0.100 None 0
CUI: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 14 2 0.100 None 0
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		phenotype Finding 16 0.100 None 0
CUI: C0576225
Disease: Long foot
Long foot 		phenotype Musculoskeletal Diseases Finding 19 3 0.100 None 0
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		phenotype Congenital Abnormality 19 0.100 None 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		phenotype Finding 22 2 0.100 None 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 1997 1997
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: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		phenotype Finding 29 6 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		phenotype Finding 30 0.100 None 0