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: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		disease Disease or Syndrome 1 5 0.600 strong 1.000 1 5 2016 2016
CUI: C0393719
Disease: Nocturnal epilepsy
Nocturnal epilepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 1 2017 2017
CUI: C2363771
Disease: Myopic astigmatism
Myopic astigmatism 		disease Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0233705
Disease: Cancerophobia
Cancerophobia 		disease Mental Disorders Mental or Behavioral Dysfunction 17 0.010 None 1.000 1 2018 2018
CUI: C1879312
Disease: Agyria
Agyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 0.300 None 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 0.330 moderate 1.000 3 2016 2020
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst 		disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2020 2020
CUI: C1955906
Disease: Lymphoma, Extranodal NK-T-Cell
Lymphoma, Extranodal NK-T-Cell 		disease Neoplasms Neoplastic Process 33 2 0.010 None 1.000 1 2018 2018
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 42 1 0.100 None 0
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.410 None 1.000 1 2017 2017
CUI: C0392788
Disease: Nasal Type Extranodal NK/T-Cell Lymphoma
Nasal Type Extranodal NK/T-Cell Lymphoma 		disease Neoplasms Neoplastic Process 53 0.030 None 1.000 3 2012 2019
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype Finding 55 3 0.100 None 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 71 9 0.400 None 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.100 None 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype Finding 77 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		phenotype Digestive System Diseases Pathologic Function 121 4 0.100 None 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 129 8 0.300 None 0
CUI: C0019270
Disease: Hernia
Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.100 None 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 148 45 0.010 None 1.000 1 2019 2019
CUI: C0314719
Disease: Dryness of eye
Dryness of eye 		phenotype Eye Diseases Sign or Symptom 149 1 0.010 None 1.000 1 2018 2018
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes 		disease Eye Diseases Disease or Syndrome 156 1 0.010 None 1.000 1 2018 2018
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.010 None 1.000 1 2018 2018
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.100 None 0