Osteogenesis imperfecta

Disease Term Disease ID Gene Symbol Classification References Source
COL1A2-RELATED OSTEOGENESIS IMPERFECTA
MONDO:0100596
COL1A2 Unknown
11836364 1301191 18375391 19594296 22795120 2897363 30579604 32482890 34306033 35052464 8081394 8257992 8446583 8786074 9923651
ClinGen GWAS catalog
OSTEOGENESIS IMPERFECTA
C0029434MESH:D010013MONDO:0019019PS166200
ALPL Causal — Disgenet
BMP1 Causal — Disgenet
COL1A1 Causal
10608859 16407265 17078022 19669491 24443344 2450280 25633413 28206959 3016737 31653500 35113812 6519194 7942841 8757037
CTD ClinGen ClinVar Disgenet GWAS catalog
COL1A2 Causal
2897363
ClinVar Disgenet GWAS catalog
CREB3L1 Causal — Disgenet
CRTAP Causal
18566967
CTD Disgenet
EIF2B2 Causal — Disgenet
FKBP10 Causal — Disgenet
LRP5 Causal — Disgenet
P3H1 Causal
18566967
CTD Disgenet
PLOD2 Causal — Disgenet
PPIB Causal — Disgenet
SERPINF1 Causal — Disgenet
TMEM38B Causal — Disgenet
WNT1 Causal — Disgenet
CCDC134 Unknown — Disgenet GenCC
IFITM5 Unknown — Disgenet
KDELR2 Unknown
33053334
Disgenet GWAS catalog
MBTPS2 Unknown
27380894
CTD Disgenet
PGGHG Unknown — Disgenet
PHLDB1 Unknown — Disgenet
PLS3 Unknown — Disgenet
SERPINH1 Unknown — Disgenet
SFTPC Unknown — Disgenet
SNX22 Unknown — Disgenet
SP7 Unknown — Disgenet
SPARC Unknown
1793673
CTD Disgenet
SUCO Unknown
20440000 29620724
GWAS catalog
TENT5A Unknown
29358272
Disgenet GWAS catalog
XYLT2 Unknown — Disgenet
OSTEOGENESIS IMPERFECTA TYPE 1
216796MONDO:0008146
COL1A1 Unknown
20301472 21438135 2295701 26634493 28901398 31369917 31653500 32165296 7942841 8808594
GWAS catalog Orphanet
COL1A2 Unknown
15241796 19594296 20301472 2052622 21438135 21667357 32482890 35052464 35154279 8786074 8829649
GWAS catalog Orphanet
MBTPS2 Unknown
27380894
Orphanet
P4HB Unknown
30913006 30948499
GWAS catalog Orphanet
SEC24D Unknown
25683121
Orphanet
OSTEOGENESIS IMPERFECTA TYPE 10
MONDO:0013459
SERPINH1 Causal
10995453 20188343 25510505 26004778 26692483 27677223 27838364 29150909 29520608 31179625
ClinVar GWAS catalog
OSTEOGENESIS IMPERFECTA TYPE 11
MONDO:0012592
FKBP10 Causal
20362275 20839288 21567934 24777781 27762305
ClinVar Disgenet
OSTEOGENESIS IMPERFECTA TYPE 12
MONDO:0013460
SP7 Causal
11792318 20579626 29382611
ClinVar GWAS catalog
OSTEOGENESIS IMPERFECTA TYPE 13
MONDO:0013924
BMP1 Causal
24419319 25214535 25402547 25656619 27509835 27576954 28257626 30408480 8951074
ClinVar GWAS catalog
OSTEOGENESIS IMPERFECTA TYPE 14
MONDO:0014029
TMEM38B Causal
17611541 23054245 23499310 26911354
ClinVar Disgenet
OSTEOGENESIS IMPERFECTA TYPE 15
MONDO:0014086
WNT1 Causal
23499309
CTD ClinVar
OSTEOGENESIS IMPERFECTA TYPE 16
MONDO:0014544
CREB3L1 Causal
19767743 24079343 24716865 26558437 28817112 29936144 30657919 31207160
ClinVar Disgenet
OSTEOGENESIS IMPERFECTA TYPE 17
MONDO:0014672
SPARC Causal
26027498
ClinVar GenCC
OSTEOGENESIS IMPERFECTA TYPE 2
216804MONDO:0008147
COL1A1 Unknown
11668615 20301472 21438135 21834035 22795119 2450280 25289482 25958000 3016737 3108247 7487936 7679635 8100209
GWAS catalog Orphanet
COL1A2 Unknown
18996919 20301472 21438135
GWAS catalog Orphanet
CRTAP Unknown
21438135
GWAS catalog Orphanet
MESD Unknown
31564437 33596325
Disgenet Orphanet
P3H1 Unknown
21438135
GWAS catalog Orphanet
PPIB Unknown
21438135
Disgenet Orphanet