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.
PARKINSONISM WITH SPASTICITY, X-LINKED
disease Disease or Syndrome 1 1 0.710 None 1.000 1 1 2013 2013
Mental Retardation, X-Linked, with Epilepsy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 2 0.700 None 1.000 3 2 2002 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.300 None 0.960 25 1 2007 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2006 2006
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.300 None 1.000 1 2011 2011
CUI: C0016059
Disease: Fibrosis
Fibrosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 184 0.300 None 1.000 1 2011 2011
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.140 None 1.000 4 2014 2019
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.120 None 1.000 2 2011 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.120 None 1.000 2 2018 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.110 None 1.000 1 2013 2013
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies
phenotype Nervous System Diseases Finding 64 2 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 5 0.100 None 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C0234379
Disease: Resting Tremor
Resting Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 57 5 0.100 None 0
CUI: C0234505
Disease: Tactile Agnosia
Tactile Agnosia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 0.100 None 0
CUI: C0234518
Disease: Slurred speech
Slurred speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 39 10 0.100 None 0