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: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		disease Disease or Syndrome 1 7 0.700 limited 1.000 2 7 2015 2015
CUI: C1968942
Disease: Abnormal sacral segmentation
Abnormal sacral segmentation 		phenotype Finding 1 0.100 None 0
CUI: C1850044
Disease: Prominent protruding coccyx
Prominent protruding coccyx 		phenotype Finding 2 0.100 None 0
CUI: C4023172
Disease: Broad chin
Broad chin 		phenotype Finding 2 0.100 None 0
CUI: C4021580
Disease: Progressive extrapyramidal muscular rigidity
Progressive extrapyramidal muscular rigidity 		phenotype Finding 4 0.100 None 0
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		disease Nervous System Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2015 2015
CUI: C4022490
Disease: Prominent coccyx
Prominent coccyx 		phenotype Finding 6 1 0.100 None 0
CUI: C4477013
Disease: Impaired oropharyngeal swallow response
Impaired oropharyngeal swallow response 		phenotype Digestive System Diseases; Otorhinolaryngologic Diseases Finding 6 1 0.100 None 0
CUI: C4024168
Disease: Thickened ears
Thickened ears 		disease Anatomical Abnormality 7 1 0.100 None 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 7 1 0.100 None 0
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 0
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 10 0.010 None 1.000 1 2011 2011
CUI: C1839130
Disease: Dystonia 3, Torsion, X-Linked
Dystonia 3, Torsion, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 1 0.800 None 0.962 26 1 1992 2019
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.010 None 1.000 1 2011 2011
CUI: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 16 4 0.010 None 1.000 1 2018 2018
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder 		group Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2011 2011
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		phenotype Nervous System Diseases Finding 21 2 0.100 None 0
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2011 2011
CUI: C1859717
Disease: Depressed nasal tip
Depressed nasal tip 		phenotype Finding 23 3 0.100 None 0
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.120 None 1.000 2 2011 2011
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		phenotype Finding 27 4 0.100 None 0
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 28 2 0.100 None 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		phenotype Sign or Symptom 31 7 0.100 None 0
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 32 4 0.100 None 0