Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B
disease 0.600 9 0 1992 2012
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders
group 0.410 1.000 7 0 1992 2017
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
disease 0.400 5 0 1992 2011
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1857121
Disease: Neurodevelopmental regression
Neurodevelopmental regression
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1856661
Disease: Cloudy cornea
Cloudy cornea
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1859235
Disease: Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1859678
Disease: Mental deterioration in childhood
Mental deterioration in childhood
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
Bilateral single transverse palmar creases
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1865877
Disease: Renal cortical microcysts
Renal cortical microcysts
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
CUI: C1856468
Disease: Round, full face
Round, full face
phenotype 0.100 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.575 0.621 2.8E-04
Psychomotor regression beginning in infancy
phenotype 0.100 0 0