DisGeNET - a database of gene-disease associations

Cutis Laxa, C0010495

Variant: rs121918374 ×

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:

rs121918374

PYCR1

0.700

CausalMutation

CLINVAR

Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.

26516448

2015

dbSNP:

rs121918374

PYCR1

0.700

CausalMutation

CLINVAR

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

24035636

2013

dbSNP:

rs121918374

PYCR1

0.700

CausalMutation

CLINVAR

Mutations in PYCR1 cause cutis laxa with progeroid features.

19648921

2009

dbSNP:

rs121918374

PYCR1

0.700

CausalMutation

CLINVAR

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

19576563

2009