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 58

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

UMLS via Orphanet 72 C0011436
Orphanet 58 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). Affiliated tissues include bone.

Related Diseases for Rare Disease with Dentinogenesis Imperfecta

Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta 1 Dentinogenesis Imperfecta Type 2
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

MalaCards organs/tissues related to Rare Disease with Dentinogenesis Imperfecta:

40
Bone

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 (showing 2, show less) ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser)SNV Pathogenic 425606 rs72651645 17:48268824-48268824 17:50191463-50191463
2 COL1A2 NM_000089.3(COL1A2):c.2027G>A (p.Gly676Asp)SNV Likely pathogenic 548666 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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