DisGeNET - a database of gene-disease associations

HEIMLER SYNDROME 2, C4225267

Variant: rs267608216 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267608216

PEX6

0.700

CausalMutation

CLINVAR

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs267608216

PEX6

0.700

CausalMutation

CLINVAR

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

19877282

2010

dbSNP:

rs267608216

PEX6

0.700

CausalMutation

CLINVAR

Rational diagnostic strategy for Zellweger syndrome spectrum patients.

19142205

2009