Osteogenesis Imperfecta, Type Vii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: OST119 MIFTS: 44	Osteogenesis Imperfecta, Type Vii Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases
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Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Name: Osteogenesis Imperfecta, Type Vii ⁵⁷ ¹³

Osteogenesis Imperfecta Type Vii ¹² ⁵³ ⁷⁵ ⁴⁰ ⁷³

Osteogenesis Imperfecta Type 7 ¹² ²⁹ ⁶ ¹⁵

Oi7 ⁵⁷ ¹² ⁷⁵

Oi Type Vii ⁵³ ⁷⁵

Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive ⁷⁵

Osteogenesis Imperfecta, Type Iib, Formerly; Oi2b, Formerly ⁵⁷

Osteogenesis Imperfecta Type Ii Autosomal Recessive ⁷⁵

Osteogenesis Imperfecta, Type Iib, Formerly ⁵⁷

Osteogenesis Imperfecta Type Iib ⁷⁵

Osteogenesis Imperfecta 7 ⁷⁵

Oi2b, Formerly ⁵⁷

Oi, Type Vii ⁵⁷

Oi Type Iib ⁷⁵

Oi Type 7 ⁵³

Oi-Iib ⁷⁵

Oi-Vii ⁷⁵

Oi2b ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

osteogenesis imperfecta, type vii:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Osteogenesis imperfecta

External Ids:

OMIM ⁵⁷ 610682

Disease Ontology ¹² DOID:0110337

ICD10 ³³ Q78.0

MedGen ⁴² C1853162

MeSH ⁴⁴ D010013

UMLS ⁷³ C1853162

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Summaries for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot : ⁷⁵ 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 brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type Vii is CRTAP (Cartilage Associated Protein), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include bone, and related phenotypes are hydronephrosis and wide anterior fontanel

OMIM : ⁵⁷ 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)

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

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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 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 27)

#	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta, type ii	29.8	CD36 COL1A1 COL1A2 CRTAP
2	brittle bone disorder	27.1	CD36 COL1A1 COL1A2 CRTAP PTH1R
3	osteogenesis imperfecta, type vi	10.0	COL1A1 CRTAP
4	ehlers-danlos/osteogenesis imperfecta syndrome	9.7	COL1A1 COL1A2
5	primary hyperparathyroidism	9.7	CD36 PTH1R
6	high bone mass osteogenesis imperfecta	9.6	COL1A1 COL1A2
7	larsen-like syndrome	9.6	COL1A1 COL1A2
8	ehlers-danlos syndrome, classic type	9.6	COL1A1 COL1A2
9	spondyloepiphyseal dysplasia congenita	9.5	COL1A1 COL1A2
10	collagen disease	9.5	COL1A1 COL1A2
11	ehlers-danlos syndrome	9.3	COL1A1 COL1A2
12	bone disease	9.2	CD36 COL1A1 PTH1R
13	connective tissue disease	9.2	COL1A1 COL1A2
14	osteogenesis imperfecta, type viii	9.2	COL1A1 COL1A2 CRTAP
15	dentinogenesis imperfecta	9.2	COL1A1 COL1A2 CRTAP
16	bone development disease	9.2	COL1A1 COL1A2 CRTAP
17	scleroderma, familial progressive	9.1	CD36 COL1A1 COL1A2
18	caffey disease	9.1	CD36 COL1A1 COL1A2
19	ehlers-danlos syndrome, classic type, 1	9.1	CD36 COL1A1 COL1A2
20	osteogenesis imperfecta, type v	9.1	CD36 COL1A1 COL1A2
21	osteogenesis imperfecta, type i	9.1	CD36 COL1A1 COL1A2
22	otosclerosis	9.1	CD36 COL1A1 COL1A2
23	scoliosis	9.0	COL1A1 COL1A2
24	osteogenesis imperfecta, type iv	8.6	CD36 COL1A1 COL1A2 CRTAP
25	bruck syndrome	8.6	CD36 COL1A1 COL1A2 CRTAP
26	osteogenesis imperfecta, type iii	8.6	CD36 COL1A1 COL1A2 CRTAP
27	osteoporosis	8.3	CD36 COL1A1 COL1A2 PTH1R

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

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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Vii

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Osteogenesis Imperfecta, Type Vii:

³² (show all 28)

#	Description	HPO Source Accession
1	hydronephrosis ³²	HP:0000126
2	wide anterior fontanel ³²	HP:0000260
3	delayed cranial suture closure ³²	HP:0000270
4	round face ³²	HP:0000311
5	long philtrum ³²	HP:0000343
6	proptosis ³²	HP:0000520
7	blue sclerae ³²	HP:0000592
8	pectus excavatum ³²	HP:0000767
9	narrow chest ³²	HP:0000774
10	osteopenia ³²	HP:0000938
11	breech presentation ³²	HP:0001623
12	wormian bones ³²	HP:0002645
13	scoliosis ³²	HP:0002650
14	recurrent fractures ³²	HP:0002757
15	coxa vara ³²	HP:0002812
16	vertebral compression fractures ³²	HP:0002953
17	bowing of the legs ³²	HP:0002979
18	micromelia ³²	HP:0002983
19	protrusio acetabuli ³²	HP:0003179
20	externally rotated/abducted legs ³²	HP:0003783
21	absent pulmonary artery ³²	HP:0004960
22	hypoplastic pulmonary veins ³²	HP:0005304
23	decreased calvarial ossification ³²	HP:0005474
24	multiple prenatal fractures ³²	HP:0005855
25	crumpled long bones ³²	HP:0006367
26	multiple rib fractures ³²	HP:0006640
27	rhizomelia ³²	HP:0008905
28	wide cranial sutures ³²	HP:0010537

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vii:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.35	CD36 COL1A1 COL1A2 CRTAP PTH1R
2	skeleton	MP:0005390	9.02	PTH1R CD36 COL1A1 COL1A2 CRTAP

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Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vii

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

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Genetic Tests for Osteogenesis Imperfecta, Type Vii

Genetic tests related to Osteogenesis Imperfecta, Type Vii:

#	Genetic test	Affiliating Genes
1	Osteogenesis Imperfecta Type 7 ²⁹	CRTAP

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Anatomical Context for Osteogenesis Imperfecta, Type Vii

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

⁴¹

Bone

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Publications for Osteogenesis Imperfecta, Type Vii

Articles related to Osteogenesis Imperfecta, Type Vii:

#	Title	Authors	Year
1	CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. ( 19895918 )	Fratzl-Zelman N....Roschger P.	2010
2	Intravenous pamidronate in osteogenesis imperfecta type VII. ( 19137231 )	Cheung M.S....Rauch F.	2009

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Genes for Osteogenesis Imperfecta, Type Vii

Genes related to Osteogenesis Imperfecta, Type Vii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRTAP	Cartilage Associated Protein	Protein Coding	1324.92	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	12110406 17055431 17192541 (more) 23054245 21955071 25604815
2	CD36	CD36 Molecule	Protein Coding	17.46	GeneCards inferred via : Publications (show sections)
3	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	14.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	14.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	13.91	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Osteogenesis Imperfecta, Type Vii

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

⁷⁵

#	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 84)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CRTAP	CRTAP, IVS1, -1021C-G	single nucleotide variant	Pathogenic
2	CRTAP	CRTAP, 1-BP DEL, 879T	deletion	Pathogenic
3	CRTAP	CRTAP, IVS1, G-C, +1	single nucleotide variant	Pathogenic
4	CRTAP	NM_006371.4(CRTAP): c.826C> T (p.Gln276Ter)	single nucleotide variant	Pathogenic	rs72659361	GRCh37	Chromosome 3, 33171463: 33171463
5	CRTAP	NM_006371.4(CRTAP): c.826C> T (p.Gln276Ter)	single nucleotide variant	Pathogenic	rs72659361	GRCh38	Chromosome 3, 33129971: 33129971
6	CRTAP	NM_006371.4(CRTAP): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs72659357	GRCh37	Chromosome 3, 33155572: 33155572
7	CRTAP	NM_006371.4(CRTAP): c.3G> A (p.Met1Ile)	single nucleotide variant	Pathogenic	rs72659357	GRCh38	Chromosome 3, 33114080: 33114080
8	CRTAP	CRTAP, 16-BP DUP	duplication	Pathogenic
9	CRTAP	NM_006371.4(CRTAP): c.118_133del16insTACCC (p.Glu40Tyrfs*117)	indel	Pathogenic	rs387907333	GRCh37	Chromosome 3, 33155687: 33155702
10	CRTAP	NM_006371.4(CRTAP): c.118_133del16insTACCC (p.Glu40Tyrfs*117)	indel	Pathogenic	rs387907333	GRCh38	Chromosome 3, 33114195: 33114210
11	CRTAP	NM_006371.4(CRTAP): c.561T> G (p.Tyr187Ter)	single nucleotide variant	Pathogenic	rs387907334	GRCh37	Chromosome 3, 33161925: 33161925
12	CRTAP	NM_006371.4(CRTAP): c.561T> G (p.Tyr187Ter)	single nucleotide variant	Pathogenic	rs387907334	GRCh38	Chromosome 3, 33120433: 33120433
13	CRTAP	NM_006371.4(CRTAP): c.213G> A (p.Leu71=)	single nucleotide variant	Benign	rs11558338	GRCh37	Chromosome 3, 33155782: 33155782
14	CRTAP	NM_006371.4(CRTAP): c.213G> A (p.Leu71=)	single nucleotide variant	Benign	rs11558338	GRCh38	Chromosome 3, 33114290: 33114290
15	CRTAP	NM_006371.4(CRTAP): c.534C> T (p.Asp178=)	single nucleotide variant	Benign	rs4076086	GRCh37	Chromosome 3, 33161898: 33161898
16	CRTAP	NM_006371.4(CRTAP): c.534C> T (p.Asp178=)	single nucleotide variant	Benign	rs4076086	GRCh38	Chromosome 3, 33120406: 33120406
17	CRTAP	NM_006371.4(CRTAP): c.558A> G (p.Ala186=)	single nucleotide variant	Benign/Likely benign	rs35357409	GRCh37	Chromosome 3, 33161922: 33161922
18	CRTAP	NM_006371.4(CRTAP): c.558A> G (p.Ala186=)	single nucleotide variant	Benign/Likely benign	rs35357409	GRCh38	Chromosome 3, 33120430: 33120430
19	CRTAP	NM_006371.4(CRTAP): c.471+2C> A	single nucleotide variant	Pathogenic	rs137853943	GRCh37	Chromosome 3, 33156042: 33156042
20	CRTAP	NM_006371.4(CRTAP): c.471+2C> A	single nucleotide variant	Pathogenic	rs137853943	GRCh38	Chromosome 3, 33114550: 33114550
21	CRTAP	NM_006371.4(CRTAP): c.471+2C> G	single nucleotide variant	Likely pathogenic	rs137853943	GRCh37	Chromosome 3, 33156042: 33156042
22	CRTAP	NM_006371.4(CRTAP): c.471+2C> G	single nucleotide variant	Likely pathogenic	rs137853943	GRCh38	Chromosome 3, 33114550: 33114550
23	CRTAP	NM_006371.4(CRTAP): c.118G> T (p.Glu40Ter)	single nucleotide variant	Pathogenic	rs863225043	GRCh38	Chromosome 3, 33114195: 33114195
24	CRTAP	NM_006371.4(CRTAP): c.118G> T (p.Glu40Ter)	single nucleotide variant	Pathogenic	rs863225043	GRCh37	Chromosome 3, 33155687: 33155687
25	CRTAP	NM_006371.4(CRTAP): c.1032T> G (p.Thr344=)	single nucleotide variant	Benign	rs1135127	GRCh38	Chromosome 3, 33132664: 33132664
26	CRTAP	NM_006371.4(CRTAP): c.1032T> G (p.Thr344=)	single nucleotide variant	Benign	rs1135127	GRCh37	Chromosome 3, 33174156: 33174156
27	CRTAP	NM_006371.4(CRTAP): c.1044G> A (p.Ser348=)	single nucleotide variant	Benign	rs1135128	GRCh37	Chromosome 3, 33174168: 33174168
28	CRTAP	NM_006371.4(CRTAP): c.1044G> A (p.Ser348=)	single nucleotide variant	Benign	rs1135128	GRCh38	Chromosome 3, 33132676: 33132676
29	CRTAP	NM_006371.4(CRTAP): c.641T> C (p.Val214Ala)	single nucleotide variant	Benign/Likely benign	rs146124454	GRCh37	Chromosome 3, 33165919: 33165919
30	CRTAP	NM_006371.4(CRTAP): c.641T> C (p.Val214Ala)	single nucleotide variant	Benign/Likely benign	rs146124454	GRCh38	Chromosome 3, 33124427: 33124427
31	CRTAP	NM_006371.4(CRTAP): c.732C> T (p.Leu244=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149119710	GRCh37	Chromosome 3, 33166010: 33166010
32	CRTAP	NM_006371.4(CRTAP): c.732C> T (p.Leu244=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149119710	GRCh38	Chromosome 3, 33124518: 33124518
33	CRTAP	NM_006371.4(CRTAP): c.143A> G (p.Tyr48Cys)	single nucleotide variant	Uncertain significance	rs768012717	GRCh38	Chromosome 3, 33114220: 33114220
34	CRTAP	NM_006371.4(CRTAP): c.143A> G (p.Tyr48Cys)	single nucleotide variant	Uncertain significance	rs768012717	GRCh37	Chromosome 3, 33155712: 33155712
35	CRTAP	NM_006371.4(CRTAP): c.446A> G (p.Lys149Arg)	single nucleotide variant	Uncertain significance	rs201564256	GRCh38	Chromosome 3, 33114523: 33114523
36	CRTAP	NM_006371.4(CRTAP): c.446A> G (p.Lys149Arg)	single nucleotide variant	Uncertain significance	rs201564256	GRCh37	Chromosome 3, 33156015: 33156015
37	CRTAP	NM_006371.4(CRTAP): c.636A> C (p.Arg212=)	single nucleotide variant	Likely benign	rs749259974	GRCh37	Chromosome 3, 33165914: 33165914
38	CRTAP	NM_006371.4(CRTAP): c.636A> C (p.Arg212=)	single nucleotide variant	Likely benign	rs749259974	GRCh38	Chromosome 3, 33124422: 33124422
39	CRTAP	NM_006371.4(CRTAP): c.451C> G (p.Leu151Val)	single nucleotide variant	Uncertain significance	rs202118861	GRCh37	Chromosome 3, 33156020: 33156020
40	CRTAP	NM_006371.4(CRTAP): c.451C> G (p.Leu151Val)	single nucleotide variant	Uncertain significance	rs202118861	GRCh38	Chromosome 3, 33114528: 33114528
41	CRTAP	NM_006371.4(CRTAP): c.1152+5G> C	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 33175762: 33175762
42	CRTAP	NM_006371.4(CRTAP): c.1152+5G> C	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 33134270: 33134270
43	CRTAP	NM_006371.4(CRTAP): c.1039C> T (p.Leu347Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115198029	GRCh37	Chromosome 3, 33174163: 33174163
44	CRTAP	NM_006371.4(CRTAP): c.1039C> T (p.Leu347Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115198029	GRCh38	Chromosome 3, 33132671: 33132671
45	CRTAP	NM_006371.4(CRTAP): c.396C> G (p.Ser132=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 3, 33155965: 33155965
46	CRTAP	NM_006371.4(CRTAP): c.396C> G (p.Ser132=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 3, 33114473: 33114473
47	CRTAP	NM_006371.4(CRTAP): c.444C> G (p.Tyr148Ter)	single nucleotide variant	Pathogenic	rs972668240	GRCh37	Chromosome 3, 33156013: 33156013
48	CRTAP	NM_006371.4(CRTAP): c.444C> G (p.Tyr148Ter)	single nucleotide variant	Pathogenic	rs972668240	GRCh38	Chromosome 3, 33114521: 33114521
49	CRTAP	NM_006371.4(CRTAP): c.456G> C (p.Gln152His)	single nucleotide variant	Uncertain significance	rs779447329	GRCh37	Chromosome 3, 33156025: 33156025
50	CRTAP	NM_006371.4(CRTAP): c.456G> C (p.Gln152His)	single nucleotide variant	Uncertain significance	rs779447329	GRCh38	Chromosome 3, 33114533: 33114533

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Expression for Osteogenesis Imperfecta, Type Vii

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

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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	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴ Protein digestion and absorption ³⁷	12.42	COL1A1 COL1A2 CRTAP
2	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	12.31	COL1A1 COL1A2 CRTAP
3	Platelet activation ³⁷	11.66	COL1A1 COL1A2
4	Interleukin-4 and 13 signaling ⁶⁶	11.61	CD36 COL1A2
5	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶⁶	11.61	CD36 COL1A1 COL1A2
6	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.54	COL1A1 COL1A2
7	Amoebiasis ³⁷	11.52	COL1A1 COL1A2
8	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.35	CD36 COL1A1 COL1A2
9	IL4-mediated signaling events ¹	11.31	COL1A1 COL1A2
10	Cell adhesion_ECM remodeling ²²	11.28	COL1A1 COL1A2
11	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.11	COL1A1 PTH1R
12	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²²	11.03	COL1A1 COL1A2
13	Inflammatory Response Pathway ¹	10.92	COL1A1 COL1A2
14	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶¹	10.84	CD36 COL1A1 COL1A2
15	VEGFR3 signaling in lymphatic endothelium ¹	10.73	COL1A1 COL1A2
16	Osteoblast Signaling ¹	10.47	COL1A1 PTH1R
17	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.39	COL1A1 COL1A2 PTH1R

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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	extracellular space	GO:0005615	9.62	CD36 COL1A1 COL1A2 CRTAP
2	endoplasmic reticulum lumen	GO:0005788	9.33	COL1A1 COL1A2 CRTAP
3	brush border membrane	GO:0031526	9.26	CD36 PTH1R
4	collagen trimer	GO:0005581	9.13	CD36 COL1A1 COL1A2
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 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cytosolic calcium ion concentration	GO:0007204	9.49	CD36 PTH1R
2	platelet activation	GO:0030168	9.48	COL1A1 COL1A2
3	ossification	GO:0001503	9.46	COL1A1 PTH1R
4	collagen catabolic process	GO:0030574	9.43	COL1A1 COL1A2
5	blood coagulation	GO:0007596	9.43	CD36 COL1A1 COL1A2
6	blood vessel development	GO:0001568	9.4	COL1A1 COL1A2
7	cellular response to amino acid stimulus	GO:0071230	9.37	COL1A1 COL1A2
8	collagen fibril organization	GO:0030199	9.32	COL1A1 COL1A2
9	protein heterotrimerization	GO:0070208	9.16	COL1A1 COL1A2
10	skeletal system development	GO:0001501	9.13	COL1A1 COL1A2 PTH1R
11	skin morphogenesis	GO:0043589	8.62	COL1A1 COL1A2

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	9.16	COL1A1 COL1A2
2	extracellular matrix structural constituent	GO:0005201	8.96	COL1A1 COL1A2
3	platelet-derived growth factor binding	GO:0048407	8.62	COL1A1 COL1A2

Sources

Sources for Osteogenesis Imperfecta, Type Vii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia