PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 69; N. variants: 51
Source: CLINVAR ×
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: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 32 0.700 None 1.000 19 32 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 6 37 0.680 strong 1.000 13 13 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 16 35 1996 2016
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		disease Disease or Syndrome 1 12 0.600 strong 1.000 8 12 2002 2016
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 3 97 0.400 strong 0 1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 8 2 1996 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 8 2 1996 2016
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype Finding 4 4 0.100 None 0 2
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		group Finding 3 4 0.100 None 0 2
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 4 0.100 None 0 2
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype Musculoskeletal Diseases Finding 4 5 0.100 None 0 2
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 24 25 0.100 None 0 2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 0 2
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		phenotype Finding 5 6 0.100 None 0 2
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 6 7 0.100 None 0 2
CUI: C1850573
Disease: Slender build
Slender build 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 2 0.100 None 0 2
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 3 4 0.100 None 0 2
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 6 9 0.100 None 0 2
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 15 21 0.100 None 0 2
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 2
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 11 12 0.100 None 0 2
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		group Nervous System Diseases Finding 8 11 0.100 None 0 2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 2
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF 5-hydroxyindolacetic acid 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 21 29 0.100 None 0 2