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: C2750748
Disease: Chromosome 17p13.3 Duplication Syndrome
Chromosome 17p13.3 Duplication Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 4 0.100 None 1.000 3 1 1999 2003
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 30 0.010 None 1.000 1 1998 1998
CUI: C2931857
Disease: Double cortex
Double cortex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2000 2000
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.010 None 1.000 1 2007 2007
CUI: C0751246
Disease: Illusions, Visual
Illusions, Visual 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		disease Disease or Syndrome 5 4 0.010 None 1.000 1 2012 2012
CUI: C1853618
Disease: Perivascular spaces
Perivascular spaces 		phenotype Finding 5 0.100 None 0
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 6 0.010 None 1.000 1 2000 2000
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		disease Anatomical Abnormality 6 1 0.100 None 0
CUI: C0231779
Disease: Heel toe gait
Heel toe gait 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2019 2019
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2010 2010
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		phenotype Digestive System Diseases Sign or Symptom 13 1 0.010 None 1.000 1 2019 2019
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 1 0.020 None 1.000 2 2000 2010
CUI: C1879312
Disease: Agyria
Agyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 0.410 None 1.000 1 2009 2009
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		phenotype Mental or Behavioral Dysfunction 22 3 0.010 None 1.000 1 2016 2016
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 97 0.800 strong 1.000 50 97 1993 2018
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 0.010 None 1.000 1 2012 2012
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 29 0.010 None 1.000 1 2002 2002
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 30 3 0.700 strong 1.000 16 3 2000 2017
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		phenotype Sign or Symptom 33 12 0.010 None 1.000 1 2019 2019
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease Disease or Syndrome 33 59 0.010 None < 0.001 1 2019 2019
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.020 None 1.000 2 2017 2019
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 1997 1997