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: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 20 0.630 None 1.000 5 20 2015 2020
CUI: C1859200
Disease: Inability to walk by childhood/adolescence
Inability to walk by childhood/adolescence 		phenotype Finding 4 2 0.100 None 0 1
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Finding 6 1 0.100 None 0 1
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 10 93 0.010 None 1.000 1 2016 2016
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 0
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 13 0.100 None 0
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype Finding 18 4 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy 		disease Disease or Syndrome 22 0.100 None 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		phenotype Finding 30 3 0.100 None 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.010 None 1.000 1 2016 2016
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding 38 4 0.100 None 0 1
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 16 0.100 None 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype Finding 66 7 0.100 None 0 1
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0 1
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0