| Osteogenesis Imperfecta |
C0029434 |
COL1A1
|
17078022, 26712438, 25963598, 8757037 |
|
COL1A2
|
|
|
P4HB
|
25683117 |
|
SERPINF1
|
21353196 |
|
PLOD2
|
22689593 |
|
SPARC
|
26027498, 1793673 |
|
WNT1
|
2349931, 23499309 |
|
CRTAP
|
18566967 |
|
MESD
|
31564437 |
|
TMEM38B
|
23054245 |
|
TENT5A
|
29358272 |
|
P3H1
|
18566967 |
|
CREB3L1
|
|
|
TAPT1
|
26365339 |
| Osteogenesis imperfecta type 1 |
216796 |
COL1A1
|
|
|
COL1A2
|
|
| Osteogenesis imperfecta type 2 |
216804 |
COL1A1
|
|
|
COL1A2
|
|
|
P3H1
|
|
|
CRTAP
|
|
|
PPIB
|
|
| Osteogenesis imperfecta type 3 |
216812 |
COL1A1
|
|
|
COL1A2
|
|
|
P3H1
|
|
|
CRTAP
|
|
|
CREB3L1
|
|
|
PPIB
|
|
|
SERPINH1
|
|
|
FKBP10
|
|
|
SERPINF1
|
|
|
WNT1
|
|
|
BMP1
|
|
| Osteogenesis imperfecta type 4 |
216820 |
TMEM38B
|
|
|
COL1A1
|
|
|
COL1A2
|
|
|
CRTAP
|
|
|
PPIB
|
|
|
FKBP10
|
|
|
SP7
|
|
|
SERPINF1
|
|
|
WNT1
|
|
|
SPARC
|
|
| Osteogenesis imperfecta type 5 |
216828 |
IFITM5
|
|
| Osteogenesis imperfecta type III (disorder) |
C0268362 |
BMP1
|
22052668 |
|
SERPINH1
|
21438135, 20188343 |
|
COL1A1
|
2794057, 8364588, 8019571, 25944380, 21438135, 2037280, 7881420, 2511192, 8723681, 10408781, 9101304, 7691343, 8100209, 18670065, 8456809, 1770532, 8669434, 16879195 |
|
COL1A2
|
7881420, 8829649, 8444468, 25944380, 7520724, 8723681, 8800927, 7749416, 21438135, 16879195, 8081394, 7720740, 16786509, 10408781, 8456807, 1990009, 7860070 |
|
SERPINF1
|
21353196, 25046257 |
|
PPIB
|
21438135 |
|
WNT1
|
23499310, 25046257 |
|
CRTAP
|
21438135 |
|
FKBP10
|
25046257, 21438135 |
|
P3H1
|
21438135 |
|
CREB3L1
|
24079343 |
| Osteogenesis imperfecta type IV (disorder) |
C0268363 |
COL1A1
|
25944380, 2745420, 8094076, 16879195, 7982948, 8339541, 1770532, 17875077, 7691343, 1988452, 16786509, 21438135, 9600458 |
|
COL1A2
|
8094076, 25944380, 2052622, 2064612, 21438135, 8401517, 8800927, 1642148, 7693712, 2897363, 16786509, 16879195 |
|
SERPINF1
|
25046257 |
|
PPIB
|
21282188 |
|
SPARC
|
26027498 |
|
WNT1
|
23434763, 25046257 |
|
CRTAP
|
21438135 |
|
TMEM38B
|
23313006, 25046257 |
|
FKBP10
|
25046257, 21438135 |
|
SP7
|
21438135 |
| Osteogenesis Imperfecta Type VII |
C1853162 |
CRTAP
|
21955071, 18566967, 19550437, 18996919, 17055431 |
| Osteogenesis imperfecta, dominant perinatal lethal |
C0268358 |
COL1A1
|
2339700, 7679635, 2794057, 3108247, 1874719, 2036375, 18996919, 8349697, 2470760, 8100209, 3016737, 7691343, 3667599, 10627137, 8364588, 2913053, 16566045, 7520724, 1511982, 18670065, 2777764, 25958000, 3403550, 8786074, 8456808, 2037280, 2035536, 16786509, 2211725, 7961597, 1460047, 9143923, 2116413, 1613761, 1953667, 21438135, 8349698, 1939261 |
|
COL1A2
|
16879195, 7959683, 2777764, 16786509, 7891382, 18996919, 8182080, 10627137, 7693712, 7906591, 1874719, 1339453, 1385413, 1284475, 2914942, 21438135 |
|
PPIB
|
21438135 |
|
CRTAP
|
21438135 |
|
P3H1
|
21438135 |
| Osteogenesis imperfecta, Levin type |
C1833736 |
ANO5
|
20096397, 22742934, 22194990, 27216912, 22499103, 26404900, 23041008, 21186264, 25891276, 23047743, 21739273, 27911336, 27862037, 23670307, 22402862, 27854218, 15124103, 25135358, 23530687, 23606453, 24803842, 22980763, 23663589, 23607914 |
| Osteogenesis imperfecta, recessive perinatal lethal |
C0268360 |
COL1A1
|
|
|
COL1A2
|
26938784 |
| Osteogenesis imperfecta, type 5 |
C2931093 |
IFITM5
|
22863190, 22863195, 25046257, 24519609 |
| OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) |
C1850169 |
PPIB
|
19781681, 20089953 |
|
SNX22
|
|
| Osteogenesis Imperfecta, Type VI |
C3279564 |
SERPINF1
|
21353196 |
| Osteogenesis imperfecta, type VIII |
C1970458 |
P3H1
|
19088120, 22281939, 17277775, 27509835, 29150909 |
| OSTEOGENESIS IMPERFECTA, TYPE X |
C3151211 |
SERPINH1
|
20188343 |
| OSTEOGENESIS IMPERFECTA, TYPE XI |
C3151218 |
FKBP10
|
27362741 |
| OSTEOGENESIS IMPERFECTA, TYPE XII |
C3151433 |
FKBP10
|
|
|
SP7
|
29382611 |
| OSTEOGENESIS IMPERFECTA, TYPE XIII |
C3553887 |
BMP1
|
28513615, 25402547, 22052668, 22482805 |
| OSTEOGENESIS IMPERFECTA, TYPE XIV |
C3554428 |
TMEM38B
|
23054245 |
| OSTEOGENESIS IMPERFECTA, TYPE XIX |
C4746956 |
MBTPS2
|
27380894 |
| OSTEOGENESIS IMPERFECTA, TYPE XV |
C3808844 |
WNT1
|
23434763, 28528193, 2349931, 23499310, 23656646, 23499309 |
| OSTEOGENESIS IMPERFECTA, TYPE XVI |
C4015610 |
CREB3L1
|
30657919 |
| OSTEOGENESIS IMPERFECTA, TYPE XVII |
C4225301 |
SPARC
|
26027498 |
| OSTEOGENESIS IMPERFECTA, TYPE XVIII |
C4693736 |
TENT5A
|
29358272 |
