Osteopetrosis

Disease Term Disease ID Gene Symbol Classification References Source
Osteopetrosis C0029454 CA2 Causal Pathogenic evidence from ClinVar - ClinVar
CLCN7 Causal Pathogenic evidence from ClinVar - ClinVar
LRP5 Causal Pathogenic evidence from ClinVar - ClinVar
OSTM1 Causal Pathogenic evidence from ClinVar - ClinVar
PLEKHM1 Causal Pathogenic evidence from ClinVar - ClinVar
SNX10 Causal Pathogenic evidence from ClinVar - ClinVar
TCIRG1 Causal Pathogenic evidence from ClinVar - ClinVar
TNFRSF11A Causal Pathogenic evidence from ClinVar - ClinVar
TNFSF11 Causal Pathogenic evidence from ClinVar 17632511 ClinVar
AMER1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANKH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CSF1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DHCR24 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FERMT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18278053 -
GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IKBKG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTDSS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 C0345407 CA2 Causal Pathogenic evidence from ClinVar 1301935, 1542674, 1928091, 8128957, 8834238, 9143915, 15300855 ClinVar
CA3-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Intermediate osteopetrosis 210110 CLCN7 Causal Pathogenic evidence from ClinVar - ClinVar
PLEKHM1 Causal Pathogenic evidence from ClinVar - ClinVar
TCIRG1 Causal Pathogenic evidence from ClinVar - ClinVar
Osteopetrosis - intermediate type C0432261 CLCN7 Causal Pathogenic evidence from ClinVar 12522560 ClinVar
PLEKHM1 Causal Pathogenic evidence from ClinVar 17404618 ClinVar
TCIRG1 Causal Pathogenic evidence from ClinVar 24535816, 25829125 ClinVar
Osteopetrosis Autosomal Dominant Type 2 C3179239 CLCN7 Causal Pathogenic evidence from ClinVar 11741829, 14584882, 19288050, 19953639, 26395888 ClinVar
TNFSF11 Causal Pathogenic evidence from ClinVar 17632511 ClinVar
FERMT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18278053 -
Osteopetrosis, Autosomal Recessive 4 C1969106 CLCN7 Causal Pathogenic evidence from ClinVar 11207362, 11741829, 14584882, 17033731, 19953639, 26395888, 26477479 ClinVar
Osteopetrosis, Autosomal Recessive 6 C1969093 CLCN7 Causal Pathogenic evidence from ClinVar 12522560 ClinVar
PLEKHM1 Causal Pathogenic evidence from ClinVar 17404618, 17997709 ClinVar
TCIRG1 Causal Pathogenic evidence from ClinVar 24535816, 25829125 ClinVar
Autosomal dominant osteopetrosis type 1 2783 LRP5 Causal Pathogenic evidence from ClinVar - ClinVar
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 C1843330 LRP5 Causal Pathogenic evidence from ClinVar 11719191, 12579474, 21600326, 29131652 ClinVar
Osteopetrosis, Autosomal Recessive 5 C1968603 OSTM1 Causal Pathogenic evidence from ClinVar - ClinVar
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 C4748197 PLEKHM1 Causal Pathogenic evidence from ClinVar 17997709, 27291868 ClinVar
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 C3554478 SNX10 Causal Pathogenic evidence from ClinVar 22499339, 23123320, 23280965 ClinVar
Osteopetrosis, Autosomal Recessive 1 C1850127 TCIRG1 Causal Pathogenic evidence from ClinVar 10888887, 10942435, 11532986, 12507890, 12552563, 15300850, 18715141, 19507210, 21042819, 22231430, 23721911, 24101165, 24535484, 24989235, 25018813, 25525159, 25829125, 26777052 ClinVar
Osteopetrosis, Autosomal Recessive 7 C2676766 TNFRSF11A Causal Pathogenic evidence from ClinVar 18606301 ClinVar
Osteopetrosis, mild autosomal recessive form C1850126 TNFSF11 Causal Pathogenic evidence from ClinVar 17632511 ClinVar