DisGeNET - a database of gene-disease associations

Hypophosphatemic Rickets, Autosomal Recessive, 2, C2750078

Variant: rs121908249 ×

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:

rs121908249

ENPP1

0.800

GeneticVariation

UNIPROT

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

25741938

2015

dbSNP:

rs121908249

ENPP1

0.800

GeneticVariation

UNIPROT

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

20137772

2010

dbSNP:

rs121908249

ENPP1

0.800

GeneticVariation

UNIPROT

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

20137773

2010

dbSNP:

rs121908249

ENPP1

0.800

CausalMutation

CLINVAR