PEX14, peroxisomal biogenesis factor 14, 5195

N. diseases: 133; N. variants: 19
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: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		disease Disease or Syndrome 1 1 0.600 None 1.000 5 1 2004 2016
CUI: C4021805
Disease: Abnormality of the nasal bridge
Abnormality of the nasal bridge 		disease Anatomical Abnormality 3 2 0.100 None 0
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 11 99 0.300 strong 0
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 2 2004 2008
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		phenotype Finding 14 0.100 None 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		phenotype Finding 15 1 0.100 None 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		phenotype Finding 15 1 0.100 None 0
CUI: C0425782
Disease: Breast size
Breast size 		phenotype Finding 16 38 0.100 None 1.000 1 1 2016 2016
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 59 0.310 None 1.000 1 2000 2000
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: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 21 1 0.300 None 1.000 2 2004 2008
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		phenotype Finding 21 2 0.100 None 0
CUI: C0041227
Disease: Trypanosomiasis
Trypanosomiasis 		disease Infections Disease or Syndrome 23 0.010 None 1.000 1 2017 2017
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype Finding 25 2 0.100 None 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		phenotype Finding 28 0.100 None 0
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 36 1 0.520 strong 1.000 2 2004 2008
CUI: C0010093
Disease: Corpus Luteum Cyst
Corpus Luteum Cyst 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 36 0.300 None 1.000 1 2011 2011
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: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 41 38 0.520 strong 1.000 5 2004 2016
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 44 15 0.100 None 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 44 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 45 6 0.100 None 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype Finding 50 25 0.100 None 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		phenotype Finding 53 2 0.100 None 0