Vitamin d-dependent rickets

Disease Term Disease ID Gene Symbol Classification References Source
Vitamin D-dependent rickets, type 1 C0268689 CYP27B1 Causal Pathogenic evidence from ClinVar 9486994, 9837822, 10320521, 10518789, 10566658, 11737215, 12050193, 21700898, 22443290, 23423976, 25284246, 30282619 ClinVar
CYP2R1 Causal Pathogenic evidence from ClinVar - ClinVar
Vitamin D Hydroxylation-Deficient Rickets, Type 1B C1838657 CYP2R1 Causal Pathogenic evidence from ClinVar 15128933, 25942481, 27716192 ClinVar
Vitamin D-Dependent Rickets, Type 2A C0342646 VDR Causal Pathogenic evidence from ClinVar 1652893, 2177843, 2558018, 2849209, 7828346, 8106618, 8381803, 8392085, 8675579, 8961271, 9005998, 17970811, 28698609 ClinVar
Vitamin D-Resistant Rickets, X-Linked C3536984 CLCN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PHEX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3414685, 11414762, 18775977, 19242361 -