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: C3553354
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2
disease Disease or Syndrome 1 3 0.700 None 1.000 3 3 2007 2016
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 2 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 2 2018 2018
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 94 11 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 80 9 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.100 None 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 377 8 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.030 None 1.000 3 2018 2019
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.030 None 1.000 3 2018 2019
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.020 None 1.000 2 2018 2019
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 34 9 0.020 None 1.000 2 2019 2019
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.020 None 1.000 2 2009 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2019 2019
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME
disease Musculoskeletal Diseases Disease or Syndrome 21 15 0.020 None 1.000 2 2019 2019
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental Disorders Mental or Behavioral Dysfunction 376 98 0.010 None 1.000 1 2011 2011
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018