PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
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: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 1 2014 2014
CUI: C1168198
Disease: Recurrent respiratory papillomatosis
Recurrent respiratory papillomatosis 		disease Infections; Respiratory Tract Diseases Neoplastic Process 37 0.010 None 1.000 1 1997 1997
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.010 None 1.000 1 1 2014 2014
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2017 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 1 2019 2019
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 52 59 0.010 None 1.000 1 2018 2018
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.010 None 1.000 1 2018 2018
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 2012 2012
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 1998 1998
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy 		disease Eye Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2018 2018
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 191 67 0.010 None 1.000 1 2017 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 1 2019 2019
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 1998 1998
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2018 2018
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 62 10 0.010 None 1.000 1 2013 2013
CUI: C1865803
Disease: Peroxisome Biogenesis Disorder, Complementation Group 1
Peroxisome Biogenesis Disorder, Complementation Group 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.020 None 1.000 2 1997 1999
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 1 0.030 None 1.000 3 1 2014 2019
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0 1
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.100 None 0 1
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		phenotype Finding 16 3 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0 1
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0 1
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0 1
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 9 2 0.100 None 0