DisGeNET - a database of gene-disease associations

Source: HPO

Gene: PEX1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

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

2016

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

2016

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

2014

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C0018784
Disease:	Sensorineural Hearing Loss (disorder)

Sensorineural Hearing Loss (disorder)

disease

0.110

None

1.000

2016

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

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

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

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1837404
Disease:	High, narrow palate

High, narrow palate

phenotype

0.100

None

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1846149
Disease:	Intellectual disability, progressive

Intellectual disability, progressive

phenotype

0.100

None

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

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

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

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1849300
Disease:	Widely patent fontanelles and sutures

Widely patent fontanelles and sutures

phenotype

0.100

None

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1849367
Disease:	Nasal bridge wide

Nasal bridge wide

phenotype

0.100

None

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1858430
Disease:	Death in infancy

Death in infancy

phenotype

0.100

None

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

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

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

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

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

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1855333
Disease:	External genital hypoplasia

External genital hypoplasia

phenotype

0.100

None

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1853242
Disease:	Midface retrusion

Midface retrusion

phenotype

0.100

None

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1853241
Disease:	Flat face

Flat face

phenotype

0.100

None

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1837402
Disease:	Flat occiput

Flat occiput

phenotype

0.100

None

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

peroxisomal biogenesis factor 1

0.538

0.769

1.1E-14

CUI:	C1837397
Disease:	Severe global developmental delay

Severe global developmental delay

phenotype

0.100

None