OI7
MCID: OST119
MIFTS: 49

Osteogenesis Imperfecta, Type Vii (OI7)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Name: Osteogenesis Imperfecta, Type Vii 58 13
Osteogenesis Imperfecta Type Vii 12 54 76 41 74
Osteogenesis Imperfecta Type 7 12 30 6 15
Oi7 58 12 76
Oi Type Vii 54 76
Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive 76
Osteogenesis Imperfecta, Type Iib, Formerly; Oi2b, Formerly 58
Osteogenesis Imperfecta Type Ii Autosomal Recessive 76
Osteogenesis Imperfecta, Type Iib, Formerly 58
Osteogenesis Imperfecta Type Iib 76
Osteogenesis Imperfecta 7 76
Oi2b, Formerly 58
Oi, Type Vii 58
Oi Type Iib 76
Oi Type 7 54
Oi-Iib 76
Oi-Vii 76
Oi2b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
multiple fractures present at birth
death in infancy secondary to respiratory insufficiency/pneumonia
fracture frequency decreased post puberty


HPO:

33
osteogenesis imperfecta, type vii:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot : 76 Osteogenesis imperfecta 7: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency.

MalaCards based summary : Osteogenesis Imperfecta, Type Vii, also known as osteogenesis imperfecta type vii, is related to osteogenesis imperfecta, type ii and bone disease. An important gene associated with Osteogenesis Imperfecta, Type Vii is CRTAP (Cartilage Associated Protein), and among its related pathways/superpathways are Integrin Pathway and Collagen chain trimerization. Affiliated tissues include bone and eye, and related phenotypes are pectus excavatum and osteopenia

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the CRTAP gene on chromosome 3p22.

OMIM : 58 Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006). (610682)

Related Diseases for Osteogenesis Imperfecta, Type Vii

Diseases in the Osteogenesis Imperfecta, Type Ii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Xix Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type Xi Osteogenesis Imperfecta, Type X
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Vi
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Xviii

Diseases related to Osteogenesis Imperfecta, Type Vii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 31.4 CD36 COL1A1 COL1A2 CRTAP
2 bone disease 29.8 CD36 COL1A1 PTH1R
3 brittle bone disorder 29.5 CD36 COL1A1 COL1A2 CRTAP PTH1R
4 col1a1/2-related osteogenesis imperfecta 10.4
5 ehlers-danlos syndrome, classic type, 2 10.0 CD36 COL1A1
6 osteoporosis, juvenile 10.0 CD36 COL1A1
7 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
8 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
9 larsen-like syndrome 10.0 COL1A1 COL1A2
10 ehlers-danlos syndrome 9.9 COL1A1 COL1A2
11 classic ehlers-danlos syndrome 9.9 COL1A1 COL1A2
12 ehlers-danlos syndrome, classic type, 1 9.9 COL1A1 COL1A2
13 otosclerosis 9.9 COL1A1 COL1A2
14 spondyloepiphyseal dysplasia congenita 9.8 COL1A1 COL1A2
15 ocular cicatricial pemphigoid 9.8 CD36 TGFBR2
16 collagen disease 9.8 COL1A1 COL1A2
17 osteogenesis imperfecta, type viii 9.8 COL1A1 COL1A2 CRTAP
18 osteogenesis imperfecta, type v 9.7 CD36 COL1A1 COL1A2
19 osteogenesis imperfecta, type i 9.7 CD36 COL1A1 COL1A2
20 dentinogenesis imperfecta 9.7 COL1A1 COL1A2 CRTAP
21 bone development disease 9.7 COL1A1 COL1A2 CRTAP
22 scleroderma, familial progressive 9.7 CD36 COL1A1 COL1A2
23 caffey disease 9.7 CD36 COL1A1 COL1A2
24 primary hyperparathyroidism 9.7 CD36 PTH1R
25 marfan syndrome 9.6 COL1A2 TGFBR2
26 osteogenesis imperfecta, type iv 9.5 CD36 COL1A1 COL1A2 CRTAP
27 osteogenesis imperfecta, type iii 9.5 CD36 COL1A1 COL1A2 CRTAP
28 bruck syndrome 9.5 CD36 COL1A1 COL1A2 CRTAP
29 osteoporosis 9.4 CD36 COL1A1 COL1A2 PTH1R

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



Diseases related to Osteogenesis Imperfecta, Type Vii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Vii

Human phenotypes related to Osteogenesis Imperfecta, Type Vii:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 HP:0000767
2 osteopenia 33 HP:0000938
3 scoliosis 33 HP:0002650
4 long philtrum 33 HP:0000343
5 narrow chest 33 HP:0000774
6 micromelia 33 HP:0002983
7 wormian bones 33 HP:0002645
8 rhizomelia 33 HP:0008905
9 protrusio acetabuli 33 HP:0003179
10 round face 33 HP:0000311
11 recurrent fractures 33 HP:0002757
12 wide anterior fontanel 33 HP:0000260
13 proptosis 33 HP:0000520
14 coxa vara 33 HP:0002812
15 blue sclerae 33 HP:0000592
16 hydronephrosis 33 HP:0000126
17 breech presentation 33 HP:0001623
18 multiple prenatal fractures 33 HP:0005855
19 decreased calvarial ossification 33 HP:0005474
20 delayed cranial suture closure 33 HP:0000270
21 bowing of the legs 33 HP:0002979
22 vertebral compression fractures 33 HP:0002953
23 crumpled long bones 33 HP:0006367
24 wide cranial sutures 33 HP:0010537
25 multiple rib fractures 33 HP:0006640
26 absent pulmonary artery 33 HP:0004960
27 hypoplastic pulmonary veins 33 HP:0005304
28 externally rotated/abducted legs 33 HP:0003783

Symptoms via clinical synopsis from OMIM:

58
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
multiple rib fractures

Skeletal Spine:
scoliosis
vertebral compression fractures

Chest External Features:
narrow chest

Skeletal Skull:
wormian bones
poorly ossified calvaria

Skeletal Pelvis:
coxa vara
protrusio acetabulae

Prenatal Manifestations Delivery:
breech presentation
term delivery

Growth Height:
normal birth length
short stature (adult)

Head And Neck Head:
large open anterior fontanelle
open sutures

Cardiovascular Vascular:
absent pulmonary artery
hypoplastic pulmonary veins

Skeletal:
osteopenia
multiple fractures present at birth
moderate-severe bone fragility

Head And Neck Face:
long philtrum
round face

Skeletal Limbs:
micromelia
rhizomelia
crumpled long bones
bowed lower limbs
externally rotated/abducted legs
more
Head And Neck Eyes:
proptosis
bluish sclerae

Genitourinary Kidneys:
hydronephrosis

Growth Weight:
normal birth weight

Head And Neck Ears:
normal hearing

Head And Neck Teeth:
no dentinogenesis imperfecta

Clinical features from OMIM:

610682

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.83 CD36 COL1A1 COL1A2 PTH1R TGFBR2
2 cardiovascular system MP:0005385 9.8 CD36 COL1A1 COL1A2 PTH1R TGFBR2
3 growth/size/body region MP:0005378 9.8 CD36 COL1A1 COL1A2 CRTAP PTH1R TGFBR2
4 adipose tissue MP:0005375 9.76 CD36 COL1A1 COL1A2 TGFBR2
5 digestive/alimentary MP:0005381 9.67 CD36 COL1A1 PTH1R TGFBR2
6 liver/biliary system MP:0005370 9.56 CD36 COL1A1 PTH1R TGFBR2
7 muscle MP:0005369 9.46 CD36 COL1A1 COL1A2 TGFBR2
8 skeleton MP:0005390 9.43 CD36 COL1A1 COL1A2 CRTAP PTH1R TGFBR2
9 vision/eye MP:0005391 8.92 CD36 COL1A1 PTH1R TGFBR2

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vii

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type Vii

Genetic Tests for Osteogenesis Imperfecta, Type Vii

Genetic tests related to Osteogenesis Imperfecta, Type Vii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 7 30 CRTAP

Anatomical Context for Osteogenesis Imperfecta, Type Vii

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

42
Bone, Eye

Publications for Osteogenesis Imperfecta, Type Vii

Articles related to Osteogenesis Imperfecta, Type Vii:

# Title Authors Year
1
CRTAP mutation in a patient with Cole-Carpenter syndrome. ( 25604815 )
2015
2
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. ( 23054245 )
2012
3
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix. ( 21955071 )
2012
4
CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. ( 19895918 )
2010
5
Intravenous pamidronate in osteogenesis imperfecta type VII. ( 19137231 )
2009
6
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. ( 17055431 )
2006
7
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. ( 17192541 )
2006
8
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. ( 12110406 )
2002
9
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. ( 12110407 )
2002

Variations for Osteogenesis Imperfecta, Type Vii

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

76
# Symbol AA change Variation ID SNP ID
1 CRTAP p.Leu67Pro VAR_054442 rs72659358
2 CRTAP p.Ala13Glu VAR_063599 rs137853938
3 CRTAP p.Lys157Glu VAR_063600 rs137853942

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vii:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRTAP CRTAP, IVS1, -1021C-G single nucleotide variant Pathogenic
2 CRTAP NM_006371.4(CRTAP): c.879delT (p.Phe293Leufs) deletion Pathogenic GRCh37 Chromosome 3, 33171516: 33171516
3 CRTAP NM_006371.4(CRTAP): c.879delT (p.Phe293Leufs) deletion Pathogenic GRCh38 Chromosome 3, 33130024: 33130024
4 CRTAP NM_006371.4(CRTAP): c.471+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 33156041: 33156041
5 CRTAP NM_006371.4(CRTAP): c.471+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 33114549: 33114549
6 CRTAP NM_006371.4(CRTAP): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs72659361 GRCh37 Chromosome 3, 33171463: 33171463
7 CRTAP NM_006371.4(CRTAP): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs72659361 GRCh38 Chromosome 3, 33129971: 33129971
8 CRTAP NM_006371.4(CRTAP): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs72659357 GRCh37 Chromosome 3, 33155572: 33155572
9 CRTAP NM_006371.4(CRTAP): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs72659357 GRCh38 Chromosome 3, 33114080: 33114080
10 CRTAP CRTAP, 16-BP DUP duplication Pathogenic
11 CRTAP NM_006371.4(CRTAP): c.118_133del16insTACCC (p.Glu40Tyrfs*117) indel Pathogenic rs387907333 GRCh37 Chromosome 3, 33155687: 33155702
12 CRTAP NM_006371.4(CRTAP): c.118_133del16insTACCC (p.Glu40Tyrfs*117) indel Pathogenic rs387907333 GRCh38 Chromosome 3, 33114195: 33114210
13 CRTAP NM_006371.4(CRTAP): c.561T> G (p.Tyr187Ter) single nucleotide variant Pathogenic rs387907334 GRCh37 Chromosome 3, 33161925: 33161925
14 CRTAP NM_006371.4(CRTAP): c.561T> G (p.Tyr187Ter) single nucleotide variant Pathogenic rs387907334 GRCh38 Chromosome 3, 33120433: 33120433
15 CRTAP NM_006371.4(CRTAP): c.213G> A (p.Leu71=) single nucleotide variant Benign rs11558338 GRCh37 Chromosome 3, 33155782: 33155782
16 CRTAP NM_006371.4(CRTAP): c.213G> A (p.Leu71=) single nucleotide variant Benign rs11558338 GRCh38 Chromosome 3, 33114290: 33114290
17 CRTAP NM_006371.4(CRTAP): c.534C> T (p.Asp178=) single nucleotide variant Benign rs4076086 GRCh37 Chromosome 3, 33161898: 33161898
18 CRTAP NM_006371.4(CRTAP): c.534C> T (p.Asp178=) single nucleotide variant Benign rs4076086 GRCh38 Chromosome 3, 33120406: 33120406
19 CRTAP NM_006371.4(CRTAP): c.558A> G (p.Ala186=) single nucleotide variant Benign/Likely benign rs35357409 GRCh37 Chromosome 3, 33161922: 33161922
20 CRTAP NM_006371.4(CRTAP): c.558A> G (p.Ala186=) single nucleotide variant Benign/Likely benign rs35357409 GRCh38 Chromosome 3, 33120430: 33120430
21 CRTAP NM_006371.4(CRTAP): c.471+2C> A single nucleotide variant Pathogenic rs137853943 GRCh37 Chromosome 3, 33156042: 33156042
22 CRTAP NM_006371.4(CRTAP): c.471+2C> A single nucleotide variant Pathogenic rs137853943 GRCh38 Chromosome 3, 33114550: 33114550
23 CRTAP NM_006371.4(CRTAP): c.471+2C> G single nucleotide variant Likely pathogenic rs137853943 GRCh37 Chromosome 3, 33156042: 33156042
24 CRTAP NM_006371.4(CRTAP): c.471+2C> G single nucleotide variant Likely pathogenic rs137853943 GRCh38 Chromosome 3, 33114550: 33114550
25 CRTAP NM_006371.4(CRTAP): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs863225043 GRCh38 Chromosome 3, 33114195: 33114195
26 CRTAP NM_006371.4(CRTAP): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs863225043 GRCh37 Chromosome 3, 33155687: 33155687
27 CRTAP NM_006371.4(CRTAP): c.1032T> G (p.Thr344=) single nucleotide variant Benign rs1135127 GRCh38 Chromosome 3, 33132664: 33132664
28 CRTAP NM_006371.4(CRTAP): c.1032T> G (p.Thr344=) single nucleotide variant Benign rs1135127 GRCh37 Chromosome 3, 33174156: 33174156
29 CRTAP NM_006371.4(CRTAP): c.1044G> A (p.Ser348=) single nucleotide variant Benign rs1135128 GRCh37 Chromosome 3, 33174168: 33174168
30 CRTAP NM_006371.4(CRTAP): c.1044G> A (p.Ser348=) single nucleotide variant Benign rs1135128 GRCh38 Chromosome 3, 33132676: 33132676
31 CRTAP NM_006371.4(CRTAP): c.641T> C (p.Val214Ala) single nucleotide variant Benign/Likely benign rs146124454 GRCh37 Chromosome 3, 33165919: 33165919
32 CRTAP NM_006371.4(CRTAP): c.641T> C (p.Val214Ala) single nucleotide variant Benign/Likely benign rs146124454 GRCh38 Chromosome 3, 33124427: 33124427
33 CRTAP NM_006371.4(CRTAP): c.732C> T (p.Leu244=) single nucleotide variant Conflicting interpretations of pathogenicity rs149119710 GRCh37 Chromosome 3, 33166010: 33166010
34 CRTAP NM_006371.4(CRTAP): c.732C> T (p.Leu244=) single nucleotide variant Conflicting interpretations of pathogenicity rs149119710 GRCh38 Chromosome 3, 33124518: 33124518
35 CRTAP NM_006371.4(CRTAP): c.143A> G (p.Tyr48Cys) single nucleotide variant Uncertain significance rs768012717 GRCh38 Chromosome 3, 33114220: 33114220
36 CRTAP NM_006371.4(CRTAP): c.143A> G (p.Tyr48Cys) single nucleotide variant Uncertain significance rs768012717 GRCh37 Chromosome 3, 33155712: 33155712
37 CRTAP NM_006371.4(CRTAP): c.446A> G (p.Lys149Arg) single nucleotide variant Uncertain significance rs201564256 GRCh38 Chromosome 3, 33114523: 33114523
38 CRTAP NM_006371.4(CRTAP): c.446A> G (p.Lys149Arg) single nucleotide variant Uncertain significance rs201564256 GRCh37 Chromosome 3, 33156015: 33156015
39 CRTAP NM_006371.4(CRTAP): c.636A> C (p.Arg212=) single nucleotide variant Likely benign rs749259974 GRCh37 Chromosome 3, 33165914: 33165914
40 CRTAP NM_006371.4(CRTAP): c.636A> C (p.Arg212=) single nucleotide variant Likely benign rs749259974 GRCh38 Chromosome 3, 33124422: 33124422
41 CRTAP NM_006371.4(CRTAP): c.451C> G (p.Leu151Val) single nucleotide variant Uncertain significance rs202118861 GRCh37 Chromosome 3, 33156020: 33156020
42 CRTAP NM_006371.4(CRTAP): c.451C> G (p.Leu151Val) single nucleotide variant Uncertain significance rs202118861 GRCh38 Chromosome 3, 33114528: 33114528
43 CRTAP NM_006371.4(CRTAP): c.1152+5G> C single nucleotide variant Uncertain significance rs1553617810 GRCh37 Chromosome 3, 33175762: 33175762
44 CRTAP NM_006371.4(CRTAP): c.1152+5G> C single nucleotide variant Uncertain significance rs1553617810 GRCh38 Chromosome 3, 33134270: 33134270
45 CRTAP NM_006371.4(CRTAP): c.1039C> T (p.Leu347Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs115198029 GRCh37 Chromosome 3, 33174163: 33174163
46 CRTAP NM_006371.4(CRTAP): c.1039C> T (p.Leu347Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs115198029 GRCh38 Chromosome 3, 33132671: 33132671
47 CRTAP NM_006371.4(CRTAP): c.396C> G (p.Ser132=) single nucleotide variant Likely benign rs1453368481 GRCh37 Chromosome 3, 33155965: 33155965
48 CRTAP NM_006371.4(CRTAP): c.396C> G (p.Ser132=) single nucleotide variant Likely benign rs1453368481 GRCh38 Chromosome 3, 33114473: 33114473
49 CRTAP NM_006371.4(CRTAP): c.444C> G (p.Tyr148Ter) single nucleotide variant Pathogenic rs972668240 GRCh37 Chromosome 3, 33156013: 33156013
50 CRTAP NM_006371.4(CRTAP): c.444C> G (p.Tyr148Ter) single nucleotide variant Pathogenic rs972668240 GRCh38 Chromosome 3, 33114521: 33114521

Expression for Osteogenesis Imperfecta, Type Vii

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

Pathways for Osteogenesis Imperfecta, Type Vii

Pathways related to Osteogenesis Imperfecta, Type Vii according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 CD36 COL1A1 COL1A2 TGFBR2
2
Show member pathways
12.45 COL1A1 COL1A2 CRTAP
3
Show member pathways
12.35 COL1A1 COL1A2 CRTAP
4
Show member pathways
11.69 CD36 COL1A1 COL1A2
5 11.62 CD36 COL1A2
6 11.54 COL1A1 COL1A2
7
Show member pathways
11.45 CD36 COL1A1 COL1A2
8 11.33 COL1A1 COL1A2 TGFBR2
9 11.31 COL1A1 COL1A2
10 11.28 COL1A1 COL1A2
11 11.13 COL1A1 PTH1R
12 11.06 COL1A1 COL1A2
13 10.95 COL1A1 COL1A2
14 10.84 CD36 COL1A1 COL1A2
15 10.77 COL1A1 COL1A2
16 10.51 COL1A1 PTH1R
17 10.39 COL1A1 COL1A2 PTH1R

GO Terms for Osteogenesis Imperfecta, Type Vii

Cellular components related to Osteogenesis Imperfecta, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.33 COL1A1 COL1A2 CRTAP
2 collagen trimer GO:0005581 9.32 COL1A1 COL1A2
3 brush border membrane GO:0031526 9.26 CD36 PTH1R
4 receptor complex GO:0043235 9.13 CD36 PTH1R TGFBR2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

Biological processes related to Osteogenesis Imperfecta, Type Vii according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.56 COL1A1 COL1A2
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 COL1A2 TGFBR2
3 wound healing GO:0042060 9.54 COL1A1 TGFBR2
4 ossification GO:0001503 9.52 COL1A1 PTH1R
5 response to nutrient GO:0007584 9.51 COL1A1 TGFBR2
6 blood coagulation GO:0007596 9.5 CD36 COL1A1 COL1A2
7 response to mechanical stimulus GO:0009612 9.49 COL1A1 TGFBR2
8 cellular response to amino acid stimulus GO:0071230 9.48 COL1A1 COL1A2
9 collagen fibril organization GO:0030199 9.46 COL1A1 COL1A2
10 positive regulation of epithelial to mesenchymal transition GO:0010718 9.43 COL1A1 TGFBR2
11 skeletal system development GO:0001501 9.43 COL1A1 COL1A2 PTH1R
12 response to steroid hormone GO:0048545 9.4 COL1A1 TGFBR2
13 positive regulation of reactive oxygen species metabolic process GO:2000379 9.37 CD36 TGFBR2
14 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
15 skin morphogenesis GO:0043589 8.96 COL1A1 COL1A2
16 blood vessel development GO:0001568 8.8 COL1A1 COL1A2 TGFBR2

Molecular functions related to Osteogenesis Imperfecta, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.32 COL1A1 COL1A2
2 SMAD binding GO:0046332 9.26 COL1A2 TGFBR2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL1A1 COL1A2
4 transforming growth factor beta binding GO:0050431 8.96 CD36 TGFBR2
5 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Osteogenesis Imperfecta, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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