DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs61753219 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs61753219

PEX6

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Peroxisome biogenesis disorders.

17055079

2006

dbSNP:

rs61753219

PEX6

CUI:	C0036857
Disease:	Severe intellectual disability

Severe intellectual disability

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C0948163
Disease:	Leukoaraiosis

Leukoaraiosis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C3553937
Disease:	PEROXISOME BIOGENESIS DISORDER 4B

PEROXISOME BIOGENESIS DISORDER 4B

0.700

GeneticVariation

CLINVAR

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

19877282

2010

dbSNP:

rs61753219

PEX6

CUI:	C0035300
Disease:	Abnormal retinal morphology

Abnormal retinal morphology

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C1857790
Disease:	Thoracic scoliosis

Thoracic scoliosis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C3553937
Disease:	PEROXISOME BIOGENESIS DISORDER 4B

PEROXISOME BIOGENESIS DISORDER 4B

0.700

GeneticVariation

CLINVAR

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

15542397

2004

dbSNP:

rs61753219

PEX6

CUI:	C0029131
Disease:	Abnormality of the optic nerve

Abnormality of the optic nerve

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C0575802
Disease:	Small hand

Small hand

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C0013336
Disease:	Dwarfism

Dwarfism

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C1867114
Disease:	Craniofacial disproportion

Craniofacial disproportion

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C4023333
Disease:	Abnormality of corneal thickness

Abnormality of corneal thickness

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C1848673
Disease:	Hypoplastic feet

Hypoplastic feet

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

CausalMutation

CLINVAR

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

8670792

1996

dbSNP:

rs61753219

PEX6

CUI:	C1837260
Disease:	Prominent forehead

Prominent forehead

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C1856694
Disease:	Areflexia of lower limbs

Areflexia of lower limbs

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C1843108
Disease:	Short palm

Short palm

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C0042798
Disease:	Low Vision

Low Vision

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C0231255
Disease:	Decreased body mass index

Decreased body mass index

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C3553936
Disease:	PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)

0.700

GeneticVariation

CLINVAR

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

15542397

2004

dbSNP:

rs61753219

PEX6

CUI:	C3553936
Disease:	PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)

0.700

GeneticVariation

CLINVAR

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

19877282

2010

dbSNP:

rs61753219

PEX6

CUI:	C0152423
Disease:	Congenital small ears

Congenital small ears

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C4023338
Disease:	Profound sensorineural hearing impairment

Profound sensorineural hearing impairment

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

0.700

GeneticVariation

CLINVAR

dbSNP:

rs61753219

PEX6

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

CausalMutation

CLINVAR

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

11873320

2002