| Autosomal dominant osteopetrosis type 1 |
2783 |
LRP5
|
|
| Intermediate osteopetrosis |
210110 |
TCIRG1
|
|
|
CLCN7
|
|
|
PLEKHM1
|
|
| Osteopetrosis |
C0029454 |
CA2
|
|
|
CLCN7
|
|
|
CSF1R
|
|
|
DHCR24
|
|
|
GJA1
|
|
|
LRP5
|
|
|
MITF
|
|
|
IKBKG
|
|
|
TNFSF11
|
17632511 |
|
TNFRSF11A
|
|
|
PTDSS1
|
|
|
PLEKHM1
|
|
|
TCIRG1
|
|
|
OSTM1
|
|
|
SNX10
|
|
|
ANKH
|
|
|
FERMT3
|
18278053 |
|
AMER1
|
|
| Osteopetrosis - intermediate type |
C0432261 |
CLCN7
|
12522560 |
|
PLEKHM1
|
17404618 |
|
TCIRG1
|
24535816, 25829125 |
| Osteopetrosis Autosomal Dominant Type 2 |
C3179239 |
CLCN7
|
19953639, 26395888, 19288050, 14584882, 11741829 |
|
TNFSF11
|
17632511 |
|
FERMT3
|
18278053 |
| OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 |
C1843330 |
LRP5
|
29131652, 21600326, 12579474, 11719191 |
| OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 |
C4748197 |
PLEKHM1
|
17997709, 27291868 |
| Osteopetrosis, Autosomal Recessive 1 |
C1850127 |
TCIRG1
|
11532986, 24989235, 23721911, 22231430, 25018813, 24101165, 15300850, 12552563, 18715141, 25525159, 12507890, 21042819, 10942435, 10888887, 25829125, 19507210, 24535484, 26777052 |
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 |
C0345407 |
CA2
|
1928091, 8128957, 1301935, 15300855, 8834238, 9143915, 1542674 |
|
CA3-AS1
|
|
| Osteopetrosis, Autosomal Recessive 4 |
C1969106 |
CLCN7
|
17033731, 11207362, 14584882, 11741829, 26395888, 26477479, 19953639 |
| Osteopetrosis, Autosomal Recessive 5 |
C1968603 |
OSTM1
|
|
| Osteopetrosis, Autosomal Recessive 6 |
C1969093 |
CLCN7
|
12522560 |
|
PLEKHM1
|
17404618, 17997709 |
|
TCIRG1
|
24535816, 25829125 |
| Osteopetrosis, Autosomal Recessive 7 |
C2676766 |
TNFRSF11A
|
18606301 |
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 |
C3554478 |
SNX10
|
22499339, 23280965, 23123320 |
| Osteopetrosis, mild autosomal recessive form |
C1850126 |
TNFSF11
|
17632511 |
