MCID: RRD009
MIFTS: 7

Rare Disease with Dentinogenesis Imperfecta

Categories: Bone diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Rare Disease with Dentinogenesis Imperfecta

MalaCards integrated aliases for Rare Disease with Dentinogenesis Imperfecta:

Name: Rare Disease with Dentinogenesis Imperfecta 59

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

UMLS via Orphanet 73 C0011436
Orphanet 59 ORPHA167762

Summaries for Rare Disease with Dentinogenesis Imperfecta

MalaCards based summary : Rare Disease with Dentinogenesis Imperfecta An important gene associated with Rare Disease with Dentinogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain).

Related Diseases for Rare Disease with Dentinogenesis Imperfecta

Symptoms & Phenotypes for Rare Disease with Dentinogenesis Imperfecta

Drugs & Therapeutics for Rare Disease with Dentinogenesis Imperfecta

Search Clinical Trials , NIH Clinical Center for Rare Disease with Dentinogenesis Imperfecta

Genetic Tests for Rare Disease with Dentinogenesis Imperfecta

Anatomical Context for Rare Disease with Dentinogenesis Imperfecta

Publications for Rare Disease with Dentinogenesis Imperfecta

Variations for Rare Disease with Dentinogenesis Imperfecta

ClinVar genetic disease variations for Rare Disease with Dentinogenesis Imperfecta:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1): c.2155G> A (p.Gly719Ser) single nucleotide variant Pathogenic rs72651645 17:48268824-48268824 17:50191463-50191463
2 COL1A2 NM_000089.3(COL1A2): c.2027G> A (p.Gly676Asp) single nucleotide variant Likely pathogenic rs66883877 7:94048811-94048811 7:94419499-94419499

Expression for Rare Disease with Dentinogenesis Imperfecta

Search GEO for disease gene expression data for Rare Disease with Dentinogenesis Imperfecta.

Pathways for Rare Disease with Dentinogenesis Imperfecta

GO Terms for Rare Disease with Dentinogenesis Imperfecta

Sources for Rare Disease with Dentinogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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