MCID: OST080
MIFTS: 51

Osteogenesis Imperfecta, Type Ii malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Oral diseases categories
Download this MalaCard

Summaries for Osteogenesis Imperfecta, Type Ii

About this section


Fully expand this MalaCard
MalaCards based summary: Osteogenesis Imperfecta, Type Ii, also known as lethal osteogenesis imperfecta, is related to osteogenesis imperfecta and perinatally lethal osteogenesis imperfecta, and has symptoms including An important gene associated with Osteogenesis Imperfecta, Type Ii is COL1A2 (collagen, type I, alpha 2), and among its related pathways are IL4-mediated signaling events and Inflammatory Response Pathway. The compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

Descriptions from OMIM:46 166210,259440,610682,610915

Aliases & Classifications for Osteogenesis Imperfecta, Type Ii

About this section
Sources:
46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
See all sources

Osteogenesis Imperfecta, Type Ii, Aliases & Descriptions:

Name: Osteogenesis Imperfecta, Type Ii 46 44
Lethal Osteogenesis Imperfecta 48
 
Osteogenesis Imperfecta Type 2 48
Oi Type 2 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
lethal osteogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

ICD10 via Orphanet26 Q78.0

Related Diseases for Osteogenesis Imperfecta, Type Ii

About this section

Diseases in the Osteogenesis Imperfecta Type Iii family:

Osteogenesis Imperfecta Osteogenesis Imperfecta Type I
Osteogenesis Imperfecta Type 1a Osteogenesis Imperfecta Type 2a
Osteogenesis Imperfecta Type 2b Osteogenesis Imperfecta Type 4
Osteogenesis Imperfecta Type 5 Osteogenesis Imperfecta Type 6
Osteogenesis Imperfecta Type 7 Osteogenesis Imperfecta Type 8
Osteogenesis Imperfecta Type 9 Crtap-Related Osteogenesis Imperfecta
Lepre1-Related Osteogenesis Imperfecta Ppib-Related Osteogenesis Imperfecta
Fkbp10-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta Bmp1-Related Osteogenesis Imperfecta
Osteogenesis Imperfecta Type Xi Osteogenesis Imperfecta Type X
Osteogenesis Imperfecta Type Xii Osteogenesis Imperfecta Type Xiii
osteogenesis imperfecta, type ii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv

Diseases related to Osteogenesis Imperfecta, Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta29.9CD36, CRTAP, COL1A2, COL1A1, LEPRE1, PPIB
2perinatally lethal osteogenesis imperfecta10.8
3caffey disease10.4COL1A1
4hydrocephalus10.3
5chondrodysplasia10.3
6hypophosphatasia10.3
7cutis laxa10.3
8oi type ii10.3
9osteogenesis imperfecta type 410.3COL1A2, COL1A1
10osteogenesis imperfecta type iii10.3COL1A1, COL1A2
11col1a1/2-related osteogenesis imperfecta10.3COL1A2, COL1A1
12osteogenesis imperfecta type i10.3COL1A1, COL1A2
13ehlers–danlos syndrome classical type10.2COL1A1, COL1A2
14idiopathic juvenile osteoporosis10.2CD36, COL1A2
15systemic scleroderma10.2COL1A2, COL1A1
16marfan syndrome10.2CD36, COL1A2
17collagen disease10.2COL1A1, CD36
18gingival overgrowth10.1CD36, COL1A1
19osteoporosis, postmenopausal10.1CD36, COL1A1
20otosclerosis10.1CD36, COL1A2, COL1A1
21ehlers-danlos syndrome10.1CD36, COL1A2, COL1A1
22connective tissue disease10.1COL1A1, COL1A2, CD36
23pulmonary fibrosis10.0COL1A2, CD36, COL1A1
24osteoporosis10.0CD36, COL1A2, COL1A1
25glomerulosclerosis10.0CD36, COL1A2
26osteoarthritis9.9COL1A2, CD36, COL1A1
27chondrosarcoma9.9CD36, FGFR3
28skin benign neoplasm9.9FGFR3, COL1A1
29short stature9.9FGFR3, CD36, COL1A2
30dentinogenesis imperfecta9.6COL1A1, CD36, CRTAP, COL1A2, LEPRE1

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Ii:



Diseases related to osteogenesis imperfecta, type ii

Symptoms for Osteogenesis Imperfecta, Type Ii

About this section

Symptoms by clinical synopsis from OMIM:

166210

Clinical features from OMIM:

166210,259440,610682,610915

HPO human phenotypes related to Osteogenesis Imperfecta, Type Ii:

(show all 22)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 large fontanelles HP:0000239
3 convex nasal ridge HP:0000444
4 blue sclerae HP:0000592
5 beaded ribs HP:0000923
6 platyspondyly HP:0000926
7 thin skin HP:0000963
8 small for gestational age HP:0001518
9 premature birth HP:0001622
10 congestive heart failure HP:0001635
11 nonimmune hydrops fetalis HP:0001790
12 respiratory insufficiency HP:0002093
13 abnormality of pelvic girdle bone morphology HP:0002644
14 wormian bones HP:0002645
15 recurrent fractures HP:0002757
16 tibial bowing HP:0002982
17 decreased calvarial ossification HP:0005474
18 broad long bones HP:0005622
19 multiple prenatal fractures HP:0005855
20 crumpled long bones HP:0006367
21 disproportionate short-limb short stature HP:0008873
22 pulmonary insufficiency HP:0010444

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ii

About this section

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta, Type Ii

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Ii

Genetic Tests for Osteogenesis Imperfecta, Type Ii

About this section

Anatomical Context for Osteogenesis Imperfecta, Type Ii

About this section

MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Ii:

32
Bone

Animal Models for Osteogenesis Imperfecta, Type Ii or affiliated genes

About this section

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Ii:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7FGFR3, COL1A2, COL1A1, LEPRE1
2MP:00053758.5CD36, COL1A1, LEPRE1
3MP:00053698.3LEPRE1, COL1A1, COL1A2, CD36
4MP:00107718.2PPIB, LEPRE1, COL1A1, COL1A2, FGFR3
5MP:00107687.7COL1A1, COL1A2, CD36, FGFR3, PPIB
6MP:00053906.9FGFR3, PPIB, LEPRE1, COL1A1, COL1A2, CRTAP
7MP:00053786.9PPIB, LEPRE1, COL1A1, COL1A2, CRTAP, CD36

Publications for Osteogenesis Imperfecta, Type Ii

About this section

Articles related to Osteogenesis Imperfecta, Type Ii:

(show all 15)
idTitleAuthorsYear
1
Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II. (22795119)
2012
2
Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II. (22795120)
2012
3
A case of osteogenesis imperfecta type II caused by a novel COL1A2 gene mutation: endoscopic third ventriculostomy to prevent hydrocephalus. (22911485)
2012
4
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography. (23181495)
2012
5
Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium. (22795121)
2012
6
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional ultrasound and computed tomography. (21450031)
2011
7
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. (18996919)
2009
8
Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings. (18931501)
2008
9
A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II. (11400945)
2001
10
Abnormalities in central nervous system development in osteogenesis imperfecta type II. (9949218)
1999
11
Osteogenesis imperfecta type II: microvascular changes in the CNS. (7671457)
1995
12
Caudal block in a child with osteogenesis imperfecta, type II. (7489444)
1995
13
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. (8100209)
1993
14
First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography. (8415424)
1993
15
Midtrimester diagnosis of osteogenesis imperfecta, type II. (7126785)
1982

Variations for Osteogenesis Imperfecta, Type Ii

About this section

UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Ii:

64 (show all 120)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly275AspVAR_001649
2COL1A1p.Gly389ArgVAR_001656
3COL1A1p.Gly398AspVAR_001658
4COL1A1p.Gly422CysVAR_001661
5COL1A1p.Gly425SerVAR_001662
6COL1A1p.Gly434ValVAR_001663
7COL1A1p.Gly476ArgVAR_001664rs57377812
8COL1A1p.Gly530SerVAR_001666
9COL1A1p.Gly533AspVAR_001667
10COL1A1p.Gly560ArgVAR_001670
11COL1A1p.Gly569ArgVAR_001672
12COL1A1p.Gly593SerVAR_001674
13COL1A1p.Gly656SerVAR_001676
14COL1A1p.Gly719AspVAR_001679
15COL1A1p.Gly728ArgVAR_001681
16COL1A1p.Gly737AspVAR_001682
17COL1A1p.Gly743SerVAR_001683
18COL1A1p.Gly743ValVAR_001684
19COL1A1p.Gly764ValVAR_001685
20COL1A1p.Gly776SerVAR_001687
21COL1A1p.Gly809SerVAR_001688
22COL1A1p.Gly815ValVAR_001689
23COL1A1p.Gly839SerVAR_001692
24COL1A1p.Gly842ArgVAR_001693
25COL1A1p.Gly845ArgVAR_001694
26COL1A1p.Gly851AspVAR_001695
27COL1A1p.Gly869CysVAR_001696
28COL1A1p.Gly884SerVAR_001697
29COL1A1p.Gly896CysVAR_001698
30COL1A1p.Gly926CysVAR_001699
31COL1A1p.Gly980ValVAR_001700
32COL1A1p.Gly1022ValVAR_001703
33COL1A1p.Gly1025ArgVAR_001704
34COL1A1p.Gly1040SerVAR_001705
35COL1A1p.Gly1043SerVAR_001706
36COL1A1p.Gly1061AspVAR_001710
37COL1A1p.Gly1079SerVAR_001714
38COL1A1p.Gly1082CysVAR_001715
39COL1A1p.Gly1088AlaVAR_001716
40COL1A1p.Gly1091SerVAR_001717
41COL1A1p.Gly1100AspVAR_001718
42COL1A1p.Gly1106AlaVAR_001719
43COL1A1p.Gly1124CysVAR_001720
44COL1A1p.Gly1142SerVAR_001721
45COL1A1p.Gly1151ValVAR_001723
46COL1A1p.Gly1154ArgVAR_001724
47COL1A1p.Gly1166CysVAR_001725
48COL1A1p.Gly1172AspVAR_001726
49COL1A1p.Gly1181SerVAR_001727
50COL1A1p.Gly1184ValVAR_001728
51COL1A1p.Gly1187SerVAR_001729
52COL1A1p.Gly1187ValVAR_001730
53COL1A1p.Asp1277HisVAR_001732
54COL1A1p.Trp1312CysVAR_001733
55COL1A1p.Leu1388ArgVAR_001735
56COL1A1p.Gly866SerVAR_008118
57COL1A1p.Gly22ArgVAR_063290
58COL1A1p.Gly353AspVAR_063305
59COL1A1p.Gly368ValVAR_063307
60COL1A1p.Gly455AspVAR_063309
61COL1A1p.Gly470ValVAR_063310
62COL1A1p.Gly509ValVAR_063311
63COL1A1p.Gly548AlaVAR_063312
64COL1A1p.Gly581ArgVAR_063315
65COL1A1p.Gly602ArgVAR_063316
66COL1A1p.Gly605AspVAR_063317
67COL1A1p.Gly614ArgVAR_063318
68COL1A1p.Gly734ValVAR_063322
69COL1A1p.Gly740ArgVAR_063323
70COL1A1p.Gly824ArgVAR_063324
71COL1A1p.Gly833AspVAR_063325
72COL1A1p.Gly875SerVAR_063327
73COL1A1p.Gly896AspVAR_063328
74COL1A1p.Gly947CysVAR_063330
75COL1A1p.Gly977AspVAR_063331
76COL1A1p.Gly1001CysVAR_063332
77COL1A1p.Gly1055AspVAR_063334
78COL1A1p.Gly1094SerVAR_063337
79COL1A1p.Asp1413AsnVAR_063341
80COL1A1p.Gly848ArgVAR_063342
81COL1A2p.Gly334CysVAR_001856
82COL1A2p.Gly409ValVAR_001861
83COL1A2p.Gly433GluVAR_001862
84COL1A2p.Gly511AspVAR_001864
85COL1A2p.Gly547ArgVAR_001866
86COL1A2p.Gly562CysVAR_001868
87COL1A2p.Gly586ArgVAR_001869
88COL1A2p.Gly592SerVAR_001870
89COL1A2p.Gly637AspVAR_001872
90COL1A2p.Gly640SerVAR_001873
91COL1A2p.Gly670AspVAR_001874
92COL1A2p.Gly715AspVAR_001877
93COL1A2p.Gly730CysVAR_001878
94COL1A2p.Gly754ArgVAR_001882
95COL1A2p.Gly784ArgVAR_001885
96COL1A2p.Gly787CysVAR_001886
97COL1A2p.Gly790AspVAR_001887
98COL1A2p.Gly796SerVAR_001888
99COL1A2p.Gly877CysVAR_001891
100COL1A2p.Gly895AspVAR_001893
101COL1A2p.Gly955SerVAR_001895
102COL1A2p.Gly997AspVAR_001896
103COL1A2p.Gly1066AspVAR_001899
104COL1A2p.Gly1078CysVAR_001900
105COL1A2p.Arg234CysVAR_063345
106COL1A2p.Gly253AspVAR_063347
107COL1A2p.Gly283ArgVAR_063349
108COL1A2p.Gly397GluVAR_063353
109COL1A2p.Gly454CysVAR_063354
110COL1A2p.Gly457LeuVAR_063355
111COL1A2p.Gly526GluVAR_063357
112COL1A2p.Gly562ValVAR_063358
113COL1A2p.Gly625AspVAR_063360
114COL1A2p.Gly739ArgVAR_063364
115COL1A2p.Gly748ValVAR_063365
116COL1A2p.Gly856ValVAR_063373
117COL1A2p.Gly955AspVAR_063374
118COL1A2p.Gly982AspVAR_063375
119COL1A2p.Gly1003AspVAR_063378
120COL1A2p.Gly1027GluVAR_063379

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Ii:

6 (show all 46)
id Gene Name Type Significance SNP ID Assembly Location
1COL1A2COL1A2, DEL 7EX, CODONS 586-765deletionPathogenic
2COL1A2NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp)single nucleotide variantPathogenicrs121912900GRCh37Chr 7, 94054475: 94054475
3COL1A2COL1A2, EX33DELdeletionPathogenic
4COL1A2NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp)single nucleotide variantPathogenicrs121912901GRCh37Chr 7, 94043234: 94043234
5COL1A2NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser)single nucleotide variantPathogenicrs121912902GRCh37Chr 7, 94053675: 94053675
6COL1A2COL1A2, GLY976ASPundetermined variantPathogenic
7COL1A2NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp)single nucleotide variantPathogenicrs121912904GRCh37Chr 7, 94052279: 94052279
8COL1A2NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys)single nucleotide variantPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
9COL1A2COL1A2, EX28DELdeletionPathogenic
10COL1A2NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys)single nucleotide variantPathogenicrs121912906GRCh37Chr 7, 94041905: 94041905
11COL1A2COL1A2, IVS33DS, G-A, +5single nucleotide variantPathogenic
12COL1A2NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg)single nucleotide variantPathogenicrs121912908GRCh37Chr 7, 94049545: 94049545
13COL1A2NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp)single nucleotide variantPathogenicrs121912909GRCh37Chr 7, 94044557: 94044557
14COL1A2NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser)single nucleotide variantPathogenicrs121912910GRCh37Chr 7, 94042395: 94042395
15COL1A2NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp)single nucleotide variantPathogenicrs267606741GRCh37Chr 7, 94040378: 94040378
16COL1A1NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp)single nucleotide variantPathogenicrs72645333GRCh37Chr 17, 48274012: 48274012
17COL1A1NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg)single nucleotide variantPathogenicrs72648363GRCh37Chr 17, 48271366: 48271366
18COL1A1NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp)single nucleotide variantPathogenicrs72651651GRCh37Chr 17, 48268769: 48268769
19COL1A1NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp)single nucleotide variantPathogenicrs72653137GRCh37Chr 17, 48267369: 48267369
20COL1A1NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg)single nucleotide variantPathogenicrs72653136GRCh37Chr 17, 48267388: 48267388
21COL1A1NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys)single nucleotide variantPathogenicrs72653143GRCh37Chr 17, 48267228: 48267228
22COL1A1NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys)single nucleotide variantPathogenicrs72653152GRCh37Chr 17, 48266881: 48266881
23COL1A1NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys)single nucleotide variantPathogenicrs72653154GRCh37Chr 17, 48266791: 48266791
24COL1A1NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg)single nucleotide variantPathogenicrs72653172GRCh37Chr 17, 48266129: 48266129
25COL1A1NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp)single nucleotide variantPathogenicrs72654797GRCh37Chr 17, 48265916: 48265916
26COL1A1NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys)single nucleotide variantPathogenicrs72656303GRCh37Chr 17, 48265474: 48265474
27COL1A1NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser)single nucleotide variantPathogenicrs72656306GRCh37Chr 17, 48265335: 48265335
28COL1A1NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys)single nucleotide variantPathogenicrs72656324GRCh37Chr 17, 48264411: 48264411
29COL1A1NM_000088.3(COL1A1): c.3559G> A (p.Gly1187Ser)single nucleotide variantPathogenicrs72656332GRCh37Chr 17, 48264256: 48264256
30COL1A1COL1A1, 9-BP DELdeletionPathogenic
31COL1A1COL1A1, 1-BP INS, 4088TinsertionPathogenic
32COL1A1NM_000088.3(COL1A1): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs72651646GRCh37Chr 17, 48268823: 48268823
33COL1A1NM_000088.3(COL1A1): c.3541G> A (p.Gly1181Ser)single nucleotide variantPathogenicrs72656330GRCh37Chr 17, 48264274: 48264274
34COL1A1NM_000088.3(COL1A1): c.2444G> T (p.Gly815Val)single nucleotide variantPathogenicrs66929517GRCh37Chr 17, 48267695: 48267695
35COL1A1NM_000088.3(COL1A1): c.3452G> T (p.Gly1151Val)single nucleotide variantPathogenicrs72656321GRCh37Chr 17, 48264455: 48264455
36COL1A1NM_000088.3(COL1A1): c.1301G> T (p.Gly434Val)single nucleotide variantPathogenicrs72648333GRCh37Chr 17, 48272460: 48272460
37COL1A1COL1A1, IVS14DS, G-A, +5single nucleotide variantPathogenic
38COL1A1NM_000088.3(COL1A1): c.2939G> T (p.Gly980Val)single nucleotide variantPathogenicrs72653166GRCh37Chr 17, 48266370: 48266370
39COL1A1COL1A1, EX15-16DUPduplicationPathogenic
40COL1A1NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser)single nucleotide variantPathogenicrs66527965GRCh37Chr 17, 48270399: 48270399
41COL1A1NM_000088.3(COL1A1): c.2228G> T (p.Gly743Val)single nucleotide variantPathogenicrs72651653GRCh37Chr 17, 48268751: 48268751
42COL1A1NM_000088.3(COL1A1): c.1598G> A (p.Gly533Asp)single nucleotide variantPathogenicrs72648356GRCh37Chr 17, 48271726: 48271726
43COL1A1NM_000088.3(COL1A1): c.2291G> T (p.Gly764Val)single nucleotide variantPathogenicrs72651657GRCh37Chr 17, 48268230: 48268230
44COL1A1COL1A1, 9-BP DUPduplicationPathogenic
45COL1A1NM_000088.3(COL1A1): c.4247delC (p.Thr1416Argfs)deletionPathogenicrs398122835GRCh37Chr 17, 48263140: 48263140
46COL1A1NM_000088.3(COL1A1): c.4160C> T (p.Ala1387Val)single nucleotide variantPathogenicrs397514672GRCh37Chr 17, 48263227: 48263227

Expression for genes affiliated with Osteogenesis Imperfecta, Type Ii

About this section
Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta, Type Ii

Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Ii.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Ii

About this section

Pathways related to Osteogenesis Imperfecta, Type Ii according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7COL1A1, COL1A2
29.7COL1A1, COL1A2
39.7COL1A1, COL1A2
49.7COL1A1, COL1A2
5
Show member pathways
9.7COL1A1, COL1A2
69.7COL1A1, COL1A2
79.7COL1A2, COL1A1
8
Show member pathways
9.7COL1A2, COL1A1
9
Show member pathways
9.2FGFR3, COL1A2, COL1A1
109.2FGFR3, COL1A2, COL1A1
118.9COL1A1, COL1A2, CD36
12
Show member pathways
8.9CD36, COL1A2, COL1A1
13
Show member pathways
8.9CD36, COL1A2, COL1A1
14
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.9CD36, COL1A2, COL1A1
15
Show member pathways
8.1PPIB, LEPRE1, COL1A1, COL1A2, CRTAP
16
Show member pathways
8.1CRTAP, COL1A2, COL1A1, LEPRE1, PPIB

Compounds for genes affiliated with Osteogenesis Imperfecta, Type Ii

About this section

Compounds related to Osteogenesis Imperfecta, Type Ii according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1nppa4410.0COL1A2, COL1A1
2carbodiimide4410.0COL1A1, COL1A2
3nppb28 44 6112.0COL1A2, COL1A1
4xbai4410.0COL1A2, COL1A1
5ecori4410.0COL1A2, COL1A1
6rsai449.9COL1A1, COL1A2
7mspi449.9COL1A2, COL1A1
8L-Proline24 1110.7PPIB, LEPRE1
9cyanogen bromide449.6COL1A2, CD36
10hydroxyproline44 24 1111.4CD36, COL1A1
11procollagen449.2CD36, COL1A2, COL1A1
12thalidomide44 50 61 1112.2FGFR3, CD36
13oligonucleotide449.2COL1A1, COL1A2, FGFR3
14glycosaminoglycan449.1CD36, COL1A1
15vitamin d449.1COL1A1, COL1A2, CD36
16vegf448.7FGFR3, CD36, COL1A1
17cysteine448.6FGFR3, CD36, COL1A2, COL1A1
18serine448.5COL1A1, COL1A2, CD36, FGFR3
19dexamethasone44 50 28 1111.4FGFR3, CD36, COL1A1

GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Ii

About this section

Cellular components related to Osteogenesis Imperfecta, Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.4COL1A2, COL1A1
2macromolecular complexGO:0329918.9CRTAP, LEPRE1, PPIB
3endoplasmic reticulumGO:0057838.4FGFR3, CRTAP, LEPRE1, PPIB
4endoplasmic reticulum lumenGO:0057888.0PPIB, LEPRE1, COL1A1, COL1A2, CRTAP

Biological processes related to Osteogenesis Imperfecta, Type Ii according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:04358910.0COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.9COL1A2, COL1A1
3blood vessel developmentGO:0015689.9COL1A1, COL1A2
4cellular response to amino acid stimulusGO:0712309.8COL1A2, COL1A1
5negative regulation of post-translational protein modificationGO:19018749.8LEPRE1, CRTAP
6endochondral ossificationGO:0019589.8FGFR3, COL1A1
7leukocyte migrationGO:0509009.7COL1A2, COL1A1
8positive regulation of canonical Wnt signaling pathwayGO:0902639.7FGFR3, COL1A1
9bone developmentGO:0603489.6LEPRE1, PPIB
10collagen catabolic processGO:0305749.6COL1A2, COL1A1
11collagen fibril organizationGO:0301999.5COL1A2, COL1A1, LEPRE1
12skeletal system developmentGO:0015019.4COL1A1, COL1A2, FGFR3
13extracellular matrix disassemblyGO:0226179.4COL1A2, COL1A1
14chaperone-mediated protein foldingGO:0610779.2PPIB, LEPRE1, CRTAP
15protein stabilizationGO:0508219.2CRTAP, LEPRE1, PPIB
16positive regulation of MAPK cascadeGO:0434109.1FGFR3, CD36
17platelet activationGO:0301689.1COL1A1, COL1A2, CD36
18blood coagulationGO:0075968.9COL1A1, COL1A2, CD36
19extracellular matrix organizationGO:0301988.4CRTAP, COL1A2, COL1A1, LEPRE1, PPIB

Molecular functions related to Osteogenesis Imperfecta, Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:0484079.7COL1A2, COL1A1
2collagen bindingGO:0055189.4LEPRE1, PPIB
3extracellular matrix structural constituentGO:0052019.4COL1A2, COL1A1
4protein complex bindingGO:0324038.8CRTAP, LEPRE1, PPIB

Products for genes affiliated with Osteogenesis Imperfecta, Type Ii

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Osteogenesis Imperfecta, Type Ii

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet