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: C3151140
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
disease Disease or Syndrome 7 9 0.750 None 1.000 8 7 2003 2018
Congenital pontocerebellar hypoplasia
disease Nervous System Diseases Congenital Abnormality 32 7 0.300 strong 1.000 2 2003 2010
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2008 2008
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 6 1 0.300 None 1.000 1 2010 2010
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.120 None 1.000 2 2 2011 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 6 2 2003 2016
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0 3
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0 2
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0 2
CUI: C1321325
Disease: Elliptical nystagmus
Elliptical nystagmus
phenotype Eye Diseases; Nervous System Diseases Sign or Symptom 1 1 0.100 None 0 1
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0 2
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 2
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
phenotype Finding 67 4 0.100 None 0
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia
phenotype Finding 9 4 0.100 None 0 3
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0 2
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex
disease Anatomical Abnormality 11 8 0.100 None 0 2
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
phenotype Finding 38 19 0.100 None 0 2
EEG with persistent abnormal rhythmic activity
phenotype Finding 2 2 0.100 None 0 2