DisGeNET - a database of gene-disease associations

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, C3280799

Variant: rs281875319 ×

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:

rs281875319

PYCR1

0.800

GeneticVariation

UNIPROT

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

22052856

2011

dbSNP:

rs281875319

PYCR1

0.800

GeneticVariation

UNIPROT

Mutations in PYCR1 cause cutis laxa with progeroid features.

19648921

2009

dbSNP:

rs281875319

PYCR1

0.800

CausalMutation

CLINVAR