Paget disease

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