Disease Term Disease ID Gene Symbol References
Juvenile Paget disease 2801 TNFRSF11B
TNFRSF11A
NON RARE IN EUROPE: Paget disease of bone 280110 TNFRSF11A
SQSTM1
ZNF687
Osteitis Deformans C0029401 CSF1 20436471
DPYS 21623375, 20436471
PML 21623375
TNFRSF11A 11351498, 12673693, 20436471
SQSTM1
OPTN 21623375, 20436471, 21059646
NUP205 21623375
PIGN 20436471
ZNF687
RIN3 21623375
DCSTAMP 21623375, 20436471
SLC25A43 21623375
Paget Disease C1368019 DPYS 21623375, 20436471
PML 21623375
OPTN 21623375, 20436471
NUP205 21623375
PIGN 20436471
DCSTAMP 21623375, 20436471
SLC25A43 21623375
PAGET DISEASE OF BONE 2, EARLY-ONSET C4085251 TNFRSF11A
SQSTM1 23417734, 26208961, 12374763, 26627873, 17129171
PAGET DISEASE OF BONE 3 C4085252 SQSTM1 15146436, 12374763, 15765181, 19589897, 15176995, 15647816, 14584883, 24042580, 26713335, 18765443, 19931284, 11992264, 21195346, 15125799, 24899140, 18543015, 25241215, 23417734, 15207768, 16813535, 23942205, 21878516, 19257822, 21437228, 20499339, 15493999, 21515589, 17229007
MRNIP 21878516, 24899140, 18543015, 11992264, 19589897, 15647816, 24042580, 20499339, 21195346, 23942205, 15176995, 18765443, 19257822, 15493999, 23417734, 21515589, 15765181, 17229007, 16813535, 25241215, 26713335
PAGET DISEASE OF BONE 6 C4085250 ZNF687 26849110