Disease Term Disease ID Gene Symbol References
Rickets C0035579 ALPL
ATP7A
BAAT
CLCN5
CTNS
CYP27B1 16494812
DMP1
EHHADH
EPHX1
HLA-DQA1
HLA-DQB1
HNF4A
MMP13
OCRL
PHEX
PTH 10375030
PTH1R 10375030
SLC4A1
SLC34A1
VDR 1338926, 17451081, 22466564
TJP2
ADAMTS2
FARSB
PHGDH
PSAT1
HSD3B7
CYP2R1
SLC34A3
RNU4ATAC
Adult Rickets C3887650 ALPL
ATP7A
ATP7B
AP2S1
CLCN5
CYP27B1
DMP1
OCRL
ENPP1
PHEX
SLC2A2
SLC4A1
VDR
FGF23
ADAMTS2
PHGDH
PSAT1
MEPE 11414762
ANTXR2
CYP2R1
SLC34A3
RNU4ATAC