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DI
MCID: DNT011
MIFTS: 52

Dentinogenesis Imperfecta (DI)

Categories: Bone diseases, Ear diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Dentinogenesis Imperfecta

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MalaCards integrated aliases for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 12 74 20 43 58 29 54 6 44 15 71
Hereditary Opalescent Dentin 43 54 6 71
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 20 58 71
Dgi 43 58
Opalescent Teeth Without Osteogenesis Imperfecta 58
Non-Syndromic Dentinogenesis Imperfecta 58
Opalescent Teeth Without Oi 58
Opalescent Dentin 71
Non-Syndromic Dgi 58
Capdepont Teeth 20
Dgi Without Oi 58
Di 58

Characteristics:

Orphanet epidemiological data:

58
dentinogenesis imperfecta
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Oral diseases Bone diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:4154
MeSH 44 D003811
NCIt 50 C84667
SNOMED-CT 67 367461002
ICD10 32 K00.5
MESH via Orphanet 45 D003811
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 72 C0011436 C2973527
Orphanet 58 ORPHA49042
UMLS 71 C0011436 C0205730 C2973527 more
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Summaries for Dentinogenesis Imperfecta

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GARD : 20 Dentinogenesis imperfecta is a condition characterized by teeth that are translucent and discolored (most often blue-grey or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal, which leads to wear, breakage, and loss of teeth. This damage can include teeth fractures or small holes (pitting) in the enamel. Dentinogenesis imperfecta can affect both primary (baby) teeth and permanent teeth. People with this condition may also have speech problems or teeth that are not placed correctly in the mouth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. According to the original classification, there are three types of dentinogenesis imperfecta: Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. People with this type of dentinogenesis imperfecta have mutations in COL1A1 or COL1A2. Type II: usually occurs in people without another inherited disorder. Some families with type II also have progressive hearing loss in older age. Type II is the most common type of dentinogenesis imperfecta. Type III: usually occurs in people without another inherited disorder. Type III was first identified in a group of families in southern Maryland and has also been seen in individuals of Ashkenazi Jewish descent. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.

MalaCards based summary : Dentinogenesis Imperfecta, also known as hereditary opalescent dentin, is related to dentinogenesis imperfecta 1 and osteogenesis imperfecta, type i. An important gene associated with Dentinogenesis Imperfecta is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Collagen chain trimerization. Affiliated tissues include Tooth, bone and skin, and related phenotypes are obliteration of the pulp chamber and grayish enamel

MedlinePlus Genetics : 43 Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.

Wikipedia : 74 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

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Related Diseases for Dentinogenesis Imperfecta

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Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta 1 Dentinogenesis Imperfecta Type 2
Rare Disease with Dentinogenesis Imperfecta

Diseases related to Dentinogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 1 33.4 DSPP DMP1
2 osteogenesis imperfecta, type i 32.4 CRTAP COL1A2 COL1A1
3 dentin dysplasia, type ii 32.3 SPP1 IBSP DSPP DMP1
4 osteogenesis imperfecta, type v 32.3 IFITM5 COL1A2 COL1A1
5 osteogenesis imperfecta, type xii 32.2 SP7 SERPINF1 FKBP10
6 osteogenesis imperfecta, type viii 32.1 P3H1 CRTAP
7 bruck syndrome 2 32.0 PLOD2 FKBP10
8 osteogenesis imperfecta, type ix 32.0 PPIB COL1A2 COL1A1
9 osteogenesis imperfecta, type xix 31.9 MBTPS2 BMP1
10 osteogenesis imperfecta, type vii 31.7 SPP1 PPIB P3H1 CRTAP COL1A2 COL1A1
11 osteogenesis imperfecta, type ii 31.4 PPIB P3H1 FKBP10 CRTAP COL1A2 COL1A1
12 osteogenesis imperfecta, type iv 31.2 TMEM38B SP7 SERPINF1 PPIB P3H1 FKBP10
13 osteogenesis imperfecta, type vi 31.1 SERPINF1 MEPE IFITM5 IBSP COL1A1
14 col1a1/2 osteogenesis imperfecta 30.6 COL1A2 COL1A1
15 dentin dysplasia 30.6 SPP1 MEPE IBSP DSPP DMP1
16 bone disease 30.5 SPP1 SP7 IBSP COL1A1
17 osteogenesis imperfecta, type iii 30.5 SERPINH1 SERPINF1 PPIB PLOD2 P3H1 FKBP10
18 tooth resorption 30.4 SPP1 IBSP DSPP
19 dental caries 30.3 SPP1 IBSP DSPP DMP1
20 bone resorption disease 30.1 SPP1 SP7 IBSP COL1A2 COL1A1
21 scoliosis 29.8 PLOD2 MBTPS2 FKBP10 COL1A2 COL1A1
22 rickets 29.6 SPP1 MEPE IBSP DSPP DMP1
23 odontochondrodysplasia 29.5 TMEM38B SPP1 SP7 SERPINH1 SERPINF1 PPIB
24 osteoporosis 28.7 SPP1 SP7 P3H1 MEPE IBSP DMP1
25 brittle bone disorder 28.6 TMEM38B SPP1 SP7 SERPINH1 SERPINF1 PPIB
26 dentinogenesis imperfecta, shields type iii 11.9
27 dentinogenesis imperfecta type 2 11.8
28 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 11.7
29 cortical defects, wormian bones, and dentinogenesis imperfecta 11.4
30 osteogenesis imperfecta, type x 11.3
31 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 11.3
32 hereditary dentin defect 11.2
33 rare disease with dentinogenesis imperfecta 11.1
34 malformative syndrome with dentinogenesis imperfecta 11.1
35 osteogenesis imperfecta, type xi 11.1
36 osteogenesis imperfecta, type xiii 11.1
37 osteogenesis imperfecta, type xiv 11.1
38 osteogenesis imperfecta, type xv 11.1
39 osteogenesis imperfecta, type xvi 11.1
40 osteogenesis imperfecta, type xvii 11.1
41 osteogenesis imperfecta, type xviii 11.1
42 osteogenesis imperfecta, type xx 11.1
43 amelogenesis imperfecta 10.5
44 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A2 COL1A1
45 larsen-like syndrome 10.4 COL1A2 COL1A1
46 arthrochalasia ehlers-danlos syndrome 10.4 COL1A2 COL1A1
47 ehlers-danlos syndrome, arthrochalasia type, 2 10.4 COL1A2 COL1A1
48 scleroderma, familial progressive 10.4 COL1A2 COL1A1
49 syndromic x-linked intellectual disability cabezas type 10.3 COL1A2 COL1A1
50 ehlers-danlos syndrome, classic type, 1 10.3 DSPP COL1A2 COL1A1

Graphical network of the top 20 diseases related to Dentinogenesis Imperfecta:



Diseases related to Dentinogenesis Imperfecta
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Symptoms & Phenotypes for Dentinogenesis Imperfecta

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Human phenotypes related to Dentinogenesis Imperfecta:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obliteration of the pulp chamber 58 31 hallmark (90%) Very frequent (99-80%) HP:0006350
2 grayish enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000683
3 yellow-brown discoloration of the teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006286
4 hypocalcification of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0011084
5 fragile teeth 58 31 frequent (33%) Frequent (79-30%) HP:0025124
6 shell teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000694
7 generalized hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006282
8 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
9 persistence of primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006335
10 selective tooth agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001592
11 finger joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0006094
12 hyperextensibility at elbow 58 31 occasional (7.5%) Occasional (29-5%) HP:0010485
13 knee joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0045086
14 short dental roots 58 31 occasional (7.5%) Occasional (29-5%) HP:0006336
15 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
16 prolonged bleeding time 58 31 very rare (1%) Very rare (<4-1%) HP:0003010
17 blue sclerae 58 31 very rare (1%) Very rare (<4-1%) HP:0000592
18 joint hypermobility 58 Frequent (79-30%)
19 abnormality of dentin 58 Frequent (79-30%)
20 abnormality of the dental pulp 58 Frequent (79-30%)
21 abnormality of the dental root 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 BMP1 COL1A1 COL1A2 DMP1 FKBP10 P3H1
2 growth/size/body region MP:0005378 10.1 BMP1 COL1A1 COL1A2 CREB3L1 CRTAP DMP1
3 craniofacial MP:0005382 9.97 BMP1 COL1A1 DMP1 FKBP10 IBSP IFITM5
4 hematopoietic system MP:0005397 9.9 BMP1 COL1A1 COL1A2 CREB3L1 DMP1 FKBP10
5 limbs/digits/tail MP:0005371 9.7 BMP1 COL1A1 COL1A2 DMP1 FKBP10 IBSP
6 skeleton MP:0005390 9.53 BMP1 COL1A1 COL1A2 CREB3L1 CRTAP DMP1
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Drugs & Therapeutics for Dentinogenesis Imperfecta

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants Recruiting NCT03810859

Search NIH Clinical Center for Dentinogenesis Imperfecta

Cochrane evidence based reviews: dentinogenesis imperfecta

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Genetic Tests for Dentinogenesis Imperfecta

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Genetic tests related to Dentinogenesis Imperfecta:

# Genetic test Affiliating Genes
1 Dentinogenesis Imperfecta 29
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Anatomical Context for Dentinogenesis Imperfecta

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MalaCards organs/tissues related to Dentinogenesis Imperfecta:

40
Bone, Skin
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentinogenesis Imperfecta:
# Tissue Anatomical CompartmentCell Relevance
1 Tooth Dentin Odontoblasts Affected by disease
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Publications for Dentinogenesis Imperfecta

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Articles related to Dentinogenesis Imperfecta:

(show top 50) (show all 566)
# Title Authors PMID Year
1
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 54 6 61
15592686 2005
2
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. 61 54 6
14758537 2004
3
Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. 61 6
22392858 2012
4
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 6 61
11175790 2001
5
DSPP mutation in dentinogenesis imperfecta Shields type II. 6 61
11175779 2001
6
Adhesive Restorations as An Esthetic Solution in Dentinogenesis Imperfecta. 20 61
26731255 2015
7
Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. 20 61
25118030 2015
8
Management of dentinogenesis imperfecta: a review of two case reports. 20 61
23649579 2013
9
Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. 61 20
21323831 2011
10
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. 6
18456718 2008
11
Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. 61 54
20087402 2010
12
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. 54 61
20146806 2010
13
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. 54 61
20121932 2009
14
[Family tree and restoration method of hereditary opalescent dentin: a case report]. 54 61
19927739 2009
15
[Pedigree analysis and prosthodontic treatment of patients with dentinogenesis imperfecta type II]. 61 54
19760002 2009
16
Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization. 61 54
19348940 2009
17
Genetic evidence for key roles of decorin and biglycan in dentin mineralization. 54 61
19379665 2009
18
Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. 61 54
18797159 2009
19
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. 61 54
19131317 2009
20
[A case report of fixed restoration of hereditary opalescent dentin]. 54 61
19186872 2008
21
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. 54 61
19026876 2008
22
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. 54 61
18521831 2008
23
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. 61 54
19029076 2008
24
Dentinogenesis imperfecta: a review and case report of a family over four generations. 61 54
19075443 2008
25
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. 54 61
18499550 2008
26
Dentinogenesis imperfecta: a case report. 61 54
18603736 2008
27
Dentinogenesis imperfecta: the importance of early treatment. 61 54
18618042 2008
28
Dentinogenesis imperfecta type II: an affected family saga. 54 61
17928732 2007
29
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. 61 54
17686168 2007
30
Hereditary dentin defects. 54 61
17452557 2007
31
Developmental biology and genetics of dental malformations. 61 54
17552940 2007
32
An integrated treatment approach: a case report for dentinogenesis imperfecta type II. 61 54
18604025 2007
33
Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders. 54 61
17118335 2007
34
Molecular basis of human dentin diseases. 61 54
16955410 2006
35
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. 54 61
17026502 2006
36
Phenotypes and genotypes in 2 DGI families with different DSPP mutations. 54 61
16920545 2006
37
Overexpression of transforming growth factor-beta1 in teeth results in detachment of ameloblasts and enamel defects. 61 54
16674659 2006
38
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. 54 61
16567553 2006
39
SEM-morphology in dentinogenesis imperfecta type II: microscopic anatomy and efficacy of a dentine bonding system. 61 54
16646639 2006
40
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. 54 61
15690376 2005
41
Hereditary opalescent dentin--a case report. 54 61
15573663 2004
42
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. 61 54
15241678 2004
43
Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development. 54 61
14966118 2004
44
Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. 61 54
12721295 2003
45
Dentinogenesis imperfecta associated with osteogenesis imperfecta: report of two cases. 61 54
12718392 2003
46
COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. 54 61
12590186 2003
47
Dental structural diseases mapping to human chromosome 4q21. 54 61
12952210 2003
48
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. 54 61
12354781 2002
49
Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. 61 54
12199890 2002
50
MEPE/OF45, a new dentin/bone matrix protein and candidate gene for dentin diseases mapping to chromosome 4q21. 61 54
12489176 2002
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Variations for Dentinogenesis Imperfecta

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ClinVar genetic disease variations for Dentinogenesis Imperfecta:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSPP NM_014208.3(DSPP):c.133C>T (p.Gln45Ter) SNV Pathogenic 16853 rs121912985 4:88533338-88533338 4:87612186-87612186
2 DSPP NM_014208.3(DSPP):c.135+1G>A SNV Pathogenic 16854 rs1560477489 4:88533341-88533341 4:87612189-87612189
3 DSPP NM_014208.3(DSPP):c.52G>T (p.Val18Phe) SNV Pathogenic 16856 rs121912987 4:88533257-88533257 4:87612105-87612105
4 DSPP NM_014208.3(DSPP):c.3438del (p.Asp1146fs) Deletion Pathogenic 16861 rs1560480632 4:88537252-88537252 4:87616100-87616100
5 DSPP NM_014208.3(DSPP):c.44C>T (p.Ala15Val) SNV Pathogenic 16859 rs121912989 4:88532104-88532104 4:87610952-87610952
6 COL1A1 NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser) SNV Pathogenic 425606 rs72651645 17:48268824-48268824 17:50191463-50191463
7 COL1A2 NM_000089.3(COL1A2):c.2027G>A (p.Gly676Asp) SNV Likely pathogenic 548666 rs66883877 7:94048811-94048811 7:94419499-94419499
8 DSPP NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg) SNV Uncertain significance 930250 4:88536817-88536817 4:87615665-87615665
9 DSPP NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) SNV Benign 16858 rs36094464 4:88533540-88533540 4:87612388-87612388
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Expression for Dentinogenesis Imperfecta

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Search GEO for disease gene expression data for Dentinogenesis Imperfecta.
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Pathways for Dentinogenesis Imperfecta

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Pathways related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.67 SPP1 IBSP CREB3L1 COL1A2 COL1A1
2
Collagen chain trimerization 65
Show member pathways
 12.49 SERPINH1 PPIB PLOD2 P3H1 CRTAP COL1A2
3
Degradation of the extracellular matrix 65
Show member pathways
 12.05 SPP1 SERPINH1 PPIB PLOD2 P3H1 IBSP
4
ECM-receptor interaction 36
Show member pathways
 11.63 SPP1 IBSP DSPP DMP1 COL1A2 COL1A1
5
ECM proteoglycans 65
11.25 IBSP DSPP DMP1
6
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.15 SPP1 IBSP COL1A2 COL1A1
7
VEGFR3 signaling in lymphatic endothelium 1
10.82 COL1A2 COL1A1
8
G-protein signaling_Rap2B regulation pathway 23
10.67 SPP1 MEPE COL1A2 COL1A1 BMP1
9
Osteoblast Signaling 1
10.55 IBSP COL1A1
Sources

GO Terms for Dentinogenesis Imperfecta

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Cellular components related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.01 SPP1 SERPINH1 SERPINF1 IBSP CRTAP COL1A2
2 extracellular region GO:0005576 9.9 SPP1 SERPINF1 P3H1 MEPE IBSP DSPP
3 collagen-containing extracellular matrix GO:0062023 9.77 SERPINH1 SERPINF1 P3H1 COL1A2 COL1A1
4 extracellular matrix GO:0031012 9.72 MEPE DSPP DMP1 COL1A2 COL1A1
5 endoplasmic reticulum GO:0005783 9.65 TMEM38B SERPINH1 PPIB PLOD2 P3H1 FKBP10
6 collagen trimer GO:0005581 9.61 SERPINH1 COL1A2 COL1A1
7 endoplasmic reticulum lumen GO:0005788 9.32 SPP1 SERPINH1 PPIB P3H1 MEPE FKBP10
8 collagen type I trimer GO:0005584 9.26 COL1A2 COL1A1

Biological processes related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.8 MEPE DSPP COL1A2 COL1A1 BMP1
2 extracellular matrix organization GO:0030198 9.8 SPP1 IBSP DSPP DMP1 COL1A2 COL1A1
3 bone development GO:0060348 9.67 TMEM38B PPIB P3H1
4 bone mineralization GO:0030282 9.67 TMEM38B IFITM5 IBSP COL1A2
5 osteoblast differentiation GO:0001649 9.65 SPP1 SP7 IBSP CREB3L1 COL1A1
6 chaperone-mediated protein folding GO:0061077 9.63 PPIB P3H1 CRTAP
7 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.57 MBTPS2 CREB3L1
8 collagen metabolic process GO:0032963 9.56 P3H1 COL1A2
9 extracellular matrix assembly GO:0085029 9.55 FKBP10 COL1A2
10 collagen fibril organization GO:0030199 9.55 SERPINH1 FKBP10 CRTAP COL1A2 COL1A1
11 skin morphogenesis GO:0043589 9.54 COL1A2 COL1A1
12 collagen biosynthetic process GO:0032964 9.52 SERPINH1 COL1A1
13 peptidyl-lysine hydroxylation GO:0017185 9.51 PLOD2 FKBP10
14 extracellular matrix constituent secretion GO:0070278 9.48 TMEM38B CREB3L1
15 negative regulation of post-translational protein modification GO:1901874 9.43 P3H1 CRTAP
16 biomineral tissue development GO:0031214 9.35 SPP1 MEPE IBSP DSPP DMP1
17 ossification GO:0001503 9.17 TMEM38B SPP1 IBSP DSPP DMP1 COL1A1

Molecular functions related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 L-ascorbic acid binding GO:0031418 9.26 PLOD2 P3H1
2 extracellular matrix structural constituent GO:0005201 9.26 MEPE DSPP COL1A2 COL1A1
3 platelet-derived growth factor binding GO:0048407 9.16 COL1A2 COL1A1
4 collagen binding GO:0005518 9.02 SERPINH1 PPIB P3H1 DSPP CRTAP
Sources

Sources for Dentinogenesis Imperfecta

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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