DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1010184002 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C3553937
Disease:	PEROXISOME BIOGENESIS DISORDER 4B

PEROXISOME BIOGENESIS DISORDER 4B

0.700

1.000

2015

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C0231255
Disease:	Decreased body mass index

Decreased body mass index

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1867873
Disease:	Failure to thrive in infancy

Failure to thrive in infancy

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1854885
Disease:	Cerebral dysmyelination

Cerebral dysmyelination

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C0042798
Disease:	Low Vision

Low Vision

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1837260
Disease:	Prominent forehead

Prominent forehead

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1868549
Disease:	Marked delay in bone age

Marked delay in bone age

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1855514
Disease:	Severe failure to thrive

Severe failure to thrive

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1390474
Disease:	Increased susceptibility to fractures

Increased susceptibility to fractures

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1843108
Disease:	Short palm

Short palm

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1843496
Disease:	Bilateral microphthalmos

Bilateral microphthalmos

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C0035300
Disease:	Abnormal retinal morphology

Abnormal retinal morphology

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1837397
Disease:	Severe global developmental delay

Severe global developmental delay

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1848701
Disease:	Elevated hepatic transaminase

Elevated hepatic transaminase

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C4476788
Disease:	Decreased CSF 5-hydroxyindolacetic acid

Decreased CSF 5-hydroxyindolacetic acid

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1856694
Disease:	Areflexia of lower limbs

Areflexia of lower limbs

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C0239137
Disease:	Coxa valga

Coxa valga

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C0029131
Disease:	Abnormality of the optic nerve

Abnormality of the optic nerve

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C1861324
Disease:	Short philtrum

Short philtrum

0.700

dbSNP:

rs1010184002

PEX6

0.689

0.400

42978878

stop gained

C/T

snv

7.0E-06

CUI:	C3553764
Disease:	Joint hyperflexibility

Joint hyperflexibility

0.700