Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908248
rs121908248
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		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
rs121908249
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		0.800 GeneticVariation UNIPROT Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. 25741938 2015
dbSNP: rs121908248
rs121908248
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		0.800 GeneticVariation UNIPROT Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 20137772 2010
dbSNP: rs121908248
rs121908248
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		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
rs121908249
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		0.800 GeneticVariation UNIPROT Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 20137772 2010
dbSNP: rs121908249
rs121908249
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		0.800 GeneticVariation UNIPROT Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 20137773 2010
dbSNP: rs121908248
rs121908248
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908249
rs121908249
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs370184526
rs370184526
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		0.700 GeneticVariation UNIPROT Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. 25741938 2015
dbSNP: rs370184526
rs370184526
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		0.700 GeneticVariation UNIPROT Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. 20137773 2010
dbSNP: rs370184526
rs370184526
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		0.700 GeneticVariation UNIPROT Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. 20137772 2010
dbSNP: rs1554278331
rs1554278331
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs373044722
rs373044722
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776797
rs587776797
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs763922486
rs763922486
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
CUI: C2750078
Disease:
Hypophosphatemic Rickets, Autosomal Recessive, 2 		T 0.700 GeneticVariation CLINVAR