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: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 4 0.700 strong 1.000 3 4 2002 2015
CUI: C0233726
Disease: Aprosodia
Aprosodia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2015 2015
CUI: C0751512
Disease: Dysglossia
Dysglossia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2015 2015
CUI: C0751513
Disease: Rhinolalia
Rhinolalia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2015 2015
CUI: C0751514
Disease: Verbal Fluency Disorders
Verbal Fluency Disorders 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2015 2015
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		disease Disease or Syndrome 3 4 0.010 None 1.000 1 2017 2017
CUI: C3495145
Disease: Dyslalia
Dyslalia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 4 0.300 None 1.000 1 2015 2015
CUI: C0009090
Disease: Cluttering
Cluttering 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 8 0.300 None 1.000 1 2015 2015
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category 		phenotype Finding 11 0.300 moderate 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		phenotype Finding 30 1 0.100 None 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 99 0.300 None 1.000 2 2015 2015
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 35 0.300 None 1.000 2 2015 2015
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.300 None 1.000 2 2015 2015
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 5 0.100 None 0
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		phenotype Laboratory Procedure 53 69 0.300 moderate 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype Finding 55 3 0.100 None 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 67 3 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.100 None 0
CUI: C4721773
Disease: Postoperative cognitive dysfunction
Postoperative cognitive dysfunction 		phenotype Mental or Behavioral Dysfunction 93 0.010 None 1.000 1 2019 2019
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 129 8 0.100 None 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2015 2015
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2015 2015