PEX2, peroxisomal biogenesis factor 2, 5828

N. diseases: 152; N. variants: 13
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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		disease Anatomical Abnormality 36 1 0.100 None 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease Finding 40 2 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		phenotype Finding 21 2 0.100 None 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype Finding 75 8 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype Finding 25 2 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: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.100 None 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 2 0.300 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.010 None 1.000 1 2017 2017
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype Finding 65 1 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		phenotype Finding 14 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0