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: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder)
disease 0.720 None 1.000 18 56 1997 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders
group 0.700 strong 1.000 9 8 1997 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
disease 0.600 None 1.000 33 94 1997 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C4551980
Disease: HEIMLER SYNDROME 1
HEIMLER SYNDROME 1
disease 0.600 strong 1.000 17 11 1997 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.400 strong 1.000 0 0 2016 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
Sensorineural Hearing Loss (disorder)
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders
group 0.110 None 1.000 0 1 1998 1998
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2014 2014
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
Intellectual disability, progressive
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia
phenotype 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1844592
Disease: Soft skin
Soft skin
phenotype 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
Progressive sensorineural hearing impairment
disease 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1856779
Disease: Widely patent sagittal suture
Widely patent sagittal suture
phenotype 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix
phenotype 0.100 None 0 0