PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
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.
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 38 0.700 None 1.000 25 38 1996 2016
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 0.680 strong 1.000 19 14 1996 2019
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 35 0.600 None 1.000 20 35 1996 2016
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2
disease Disease or Syndrome 1 12 0.600 strong 1.000 9 12 2002 2016
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 0.560 strong 1.000 6 1996 2017
Deafness enamel hypoplasia nail defects
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.510 None 1.000 2 2015 2018
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 0.400 None 1.000 1 2011 2011
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 0.400 strong 0 1
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 0.340 None 1.000 6 1 1996 2017
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 1998 1998
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 1996 1999
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2016 2016
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2011 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2011 2011
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 1
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 1 0.200 None 1.000 1 1995 1995
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2016 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 8 2 1996 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 8 2 1996 2016
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2012 2012
CUI: C1850573
Disease: Slender build
Slender build
phenotype Pathological Conditions, Signs and Symptoms Finding 31 2 0.100 None 0 2
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0 2
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0