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: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 6 0.700 strong 1.000 4 6 2016 2016
CUI: C4014891
Disease: Renal abnormalities
Renal abnormalities 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3809431
Disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 2 1 0.300 moderate 1.000 1 2016 2016
CUI: C0150045
Disease: Urge Incontinence
Urge Incontinence 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 5 6 0.100 None 1.000 1 1 2015 2015
CUI: C3494361
Disease: Prodromal Stage
Prodromal Stage 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2017 2017
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		disease Nervous System Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2008 2008
CUI: C0854802
Disease: Recurrent Chronic Lymphoid Leukemia
Recurrent Chronic Lymphoid Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 12 0.010 None 1.000 1 2017 2017
CUI: C0854776
Disease: Pancreatic carcinoma non-resectable
Pancreatic carcinoma non-resectable 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2020 2020
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 2019 2019
CUI: C1955760
Disease: Idiopathic normal pressure hydrocephalus (INPH)
Idiopathic normal pressure hydrocephalus (INPH) 		disease Disease or Syndrome 25 0.010 None 1.000 1 2018 2018
CUI: C0030662
Disease: Gambling, Pathological
Gambling, Pathological 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 26 9 0.010 None 1.000 1 2019 2019
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2006 2006
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		disease Nervous System Diseases Disease or Syndrome 28 33 0.010 None 1.000 1 1998 1998
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 30 6 0.010 None 1.000 1 2017 2017
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 0.400 None 1.000 1 4 2016 2016
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		disease Nervous System Diseases Disease or Syndrome 35 14 0.010 None 1.000 1 2017 2017
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 39 9 0.300 moderate 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		phenotype Finding 39 2 0.100 None 0
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 40 1 0.010 None 1.000 1 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 0.100 None 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease Anatomical Abnormality 41 0.100 None 0
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		disease Eye Diseases Disease or Syndrome 44 6 0.010 None 1.000 1 2017 2017
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 16 0.010 None 1.000 1 2017 2017