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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 5 1 2000 2017
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
disease Disease or Syndrome 1 7 0.600 strong 1.000 3 7 2014 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.300 None 1.000 1 2018 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2019 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2018 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.300 None 1.000 1 2018 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.010 None 1.000 1 2019 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2018 2018
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 62 0.010 None 1.000 1 2014 2014
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease Nervous System Diseases Disease or Syndrome 241 69 0.100 None 0 2
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0 1
CUI: C0014877
Disease: Esotropia
Esotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 121 39 0.100 None 0 1
CUI: C0015310
Disease: Exotropia
Exotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 78 23 0.100 None 0 2
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence
disease Digestive System Diseases Disease or Syndrome 60 12 0.100 None 0 1
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 92 27 0.100 None 0 1
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0 1
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0 1
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0 2
CUI: C0034372
Disease: Quadriplegia
Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 57 3 0.100 None 0 1
CUI: C0041105
Disease: Trismus
Trismus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.100 None 0 1
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.100 None 0 2
CUI: C0152020
Disease: Gastroparesis
Gastroparesis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 95 7 0.100 None 0 1
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0 1
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0 1