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: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		disease Disease or Syndrome 1 9 0.700 strong 1.000 10 9 1988 2018
CUI: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		disease Disease or Syndrome 1 4 0.600 None 1.000 1 4 2015 2015
CUI: C0920233
Disease: Pisa syndrome
Pisa syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0519066
Disease: Acute Q fever
Acute Q fever 		disease Infections Disease or Syndrome 10 3 0.010 None 1.000 1 2011 2011
CUI: C0424688
Disease: Small head
Small head 		phenotype Finding 11 1 0.100 None 0
CUI: C0235394
Disease: Wasting
Wasting 		disease Nutritional and Metabolic Diseases Disease or Syndrome 15 0.030 None 1.000 3 2005 2009
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 17 4 0.100 None 1.000 1 1 2016 2016
CUI: C0266574
Disease: Ablepharon
Ablepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 20 1 0.010 None 1.000 1 2017 2017
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 20 30 0.010 None 1.000 1 2019 2019
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 23 13 0.010 None < 0.001 1 2018 2018
CUI: C0034362
Disease: Q Fever
Q Fever 		disease Infections Disease or Syndrome 26 0.010 None 1.000 1 2011 2011
CUI: C2939186
Disease: Disturbance in mood
Disturbance in mood 		disease Mental Disorders Mental or Behavioral Dysfunction 26 2 0.010 None 1.000 1 2018 2018
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 30 39 0.010 None 1.000 1 2010 2010
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 40 13 0.010 None 1.000 1 2018 2018
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		phenotype Finding 41 2 0.100 None 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 43 9 0.100 None 1.000 1 1 2016 2016
CUI: C0085623
Disease: Akinesia
Akinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 43 3 0.010 None 1.000 1 2019 2019
CUI: C2216702
Disease: malignant neoplasm of breast staging
malignant neoplasm of breast staging 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 49 1 0.010 None 1.000 1 2010 2010
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype Finding 49 1 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype Finding 62 0.100 None 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 71 9 0.010 None 1.000 1 2016 2016
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.010 None 1.000 1 1 2020 2020