Hypercalcemia

Disease Term Disease ID Gene Symbol References
Autosomal recessive infantile hypercalcemia 300547 CYP24A1
SLC34A1
Hypercalcemia C0020437 ALPL
CCND1
BRAF
CALCA 12637657, 1115441
CALCR 18627265
CASR 8702647, 9011580, 791660, 15751724
CDKN1A
CDKN1B
CDKN1C
CDKN2B
CDKN2C
AP2S1
COL10A1
CYP24A1 22337913
CYP27B1 20427501
DLST
ELN
FH
GDNF
GNA11
GTF2I
HLA-DRB1
IL6 10638776
LIMK1
MAX
MDH2
MEN1
NOTCH3
TNFRSF11B 15845617
PDGFRB
PIK3C2A
PTH 9382671, 12399635, 7891547, 10638776, 4004906, 17164314
PTHLH 11054717, 10638776, 12358896, 3616618
PTH1R
RET
RFC2
SDHA
SDHB
SDHC
SDHD
SLC12A1
SLC34A1 9560283
TNF 10638776
TRIO
VHL
CLIP2
SLC25A11
TNFSF11 15845617
BAZ1B
GCM2
KL 17710231
GTF2IRD1
AFG3L2 20725928
KIF1B
TBL2
SDHAF2
TMEM127
BTNL2
CDC73
TUBB6 20725928
Hypercalcemia, Idiopathic, of Infancy C0268080 CYP24A1 21675912
SLC34A1 26047794
KL 20394945
Hypercalcemia, Infantile, 1 C4310232 CYP24A1 29903433, 23293122, 26304832, 26214117, 26787776, 24423361, 23470222, 21675912, 27394135, 24875559, 22047572, 22112808, 26097993, 24518185, 23001465, 23485543, 26117226, 25446019, 25194629, 28109821
SLC34A1 26047794
Hypercalcemia, infantile, 2 C4310473 CYP24A1
SLC34A1 26047794, 20335586