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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2007 2007
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 1 1 2019 2019
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		phenotype Diagnostic Procedure 88 252 0.100 None 1.000 1 1 2013 2013
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.200 None 1.000 1 1 2011 2011
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.010 None 1.000 1 1 2011 2011
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.010 None 1.000 1 1 2008 2008
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0 1
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.100 None 0 1
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0 1
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0 1
CUI: C4023470
Disease: EEG with continuous slow activity
EEG with continuous slow activity 		phenotype Finding 10 1 0.100 None 0 1
CUI: C4476723
Disease: Anti-multiple nuclear dots antibody positivity
Anti-multiple nuclear dots antibody positivity 		phenotype Laboratory or Test Result 1 1 0.100 None 0 1
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0 1
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		phenotype Finding 9 3 0.100 None 0 1
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0 1
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0 1
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.100 None 0 1
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype Finding 41 2 0.100 None 0 1
CUI: C0018552
Disease: Hamartoma
Hamartoma 		disease Neoplasms Neoplastic Process 91 8 0.100 None 0 1
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0 1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.400 None 1.000 16 1994 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 16 1994 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.100 None 1.000 13 1995 2019