Disease: Vitamin D-dependent rickets, type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934607
rs28934607
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
CUI: C0268689
Disease:
Vitamin D-dependent rickets, type 1 		0.800 GeneticVariation UNIPROT Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. 12050193 2002
dbSNP: rs28934607
rs28934607
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
CUI: C0268689
Disease:
Vitamin D-dependent rickets, type 1 		0.800 GeneticVariation UNIPROT Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. 10320521 1999
dbSNP: rs28934607
rs28934607
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
CUI: C0268689
Disease:
Vitamin D-dependent rickets, type 1 		0.800 GeneticVariation UNIPROT No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. 10566658 1999
dbSNP: rs28934607
rs28934607
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
CUI: C0268689
Disease:
Vitamin D-dependent rickets, type 1 		0.800 GeneticVariation UNIPROT Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. 9486994 1998
dbSNP: rs28934607
rs28934607
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
CUI: C0268689
Disease:
Vitamin D-dependent rickets, type 1 		0.800 GeneticVariation UNIPROT Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. 9837822 1998
dbSNP: rs28934607
rs28934607
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
CUI: C0268689
Disease:
Vitamin D-dependent rickets, type 1 		A 0.800 CausalMutation CLINVAR