MCID: QLT003
MIFTS: 4

Qualitative or Quantitative Defects of Collagen 6

Categories: Rare diseases

Aliases & Classifications for Qualitative or Quantitative Defects of Collagen 6

MalaCards integrated aliases for Qualitative or Quantitative Defects of Collagen 6:

Name: Qualitative or Quantitative Defects of Collagen 6 58 6

Classifications:



External Ids:

Orphanet 58 ORPHA207090

Summaries for Qualitative or Quantitative Defects of Collagen 6

MalaCards based summary : Qualitative or Quantitative Defects of Collagen 6 An important gene associated with Qualitative or Quantitative Defects of Collagen 6 is COL6A2 (Collagen Type VI Alpha 2 Chain).

Related Diseases for Qualitative or Quantitative Defects of Collagen 6

Symptoms & Phenotypes for Qualitative or Quantitative Defects of Collagen 6

Drugs & Therapeutics for Qualitative or Quantitative Defects of Collagen 6

Search Clinical Trials , NIH Clinical Center for Qualitative or Quantitative Defects of Collagen 6

Genetic Tests for Qualitative or Quantitative Defects of Collagen 6

Anatomical Context for Qualitative or Quantitative Defects of Collagen 6

Publications for Qualitative or Quantitative Defects of Collagen 6

Variations for Qualitative or Quantitative Defects of Collagen 6

ClinVar genetic disease variations for Qualitative or Quantitative Defects of Collagen 6:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL6A2 NM_001849.4(COL6A2):c.1970-9G>ASNV Conflicting interpretations of pathogenicity 265506 rs747900252 21:47545690-47545690 21:46125776-46125776

Expression for Qualitative or Quantitative Defects of Collagen 6

Search GEO for disease gene expression data for Qualitative or Quantitative Defects of Collagen 6.

Pathways for Qualitative or Quantitative Defects of Collagen 6

GO Terms for Qualitative or Quantitative Defects of Collagen 6

Sources for Qualitative or Quantitative Defects of Collagen 6

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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