R7
MCID: RNG023
MIFTS: 19

Ring Chromosome 7 (R7) malady

Fetal category

Summaries for Ring Chromosome 7

Sources:
33MalaCards
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MalaCards: Ring Chromosome 7, also known as chromosome 7 ring, is related to holoprosencephaly and mental retardation. An important gene associated with Ring Chromosome 7 is GFAP (glial fibrillary acidic protein), and among its related pathways are PIP3 activates AKT signaling and Spinal Cord Injury. The compounds bcnu and tetracycline have been mentioned in the context of this disorder.

Aliases & Classifications for Ring Chromosome 7

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal


Aliases & Descriptions:

ring chromosome 7 43 49 61
chromosome 7 ring 43
ring 7 43
r7 43


External Ids:

MESH via Orphanet36 C537813
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet62 C0795818, C2931622

Related Diseases for Ring Chromosome 7

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ring Chromosome 7:



Diseases related to ring chromosome 7

Clinical Features for Ring Chromosome 7

Drugs & Therapeutics for Ring Chromosome 7

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ring Chromosome 7

Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 7

Search NIH Clinical Center for Ring Chromosome 7

Search CenterWatch for Ring Chromosome 7

Genetic Tests for Ring Chromosome 7

Anatomical Context for Ring Chromosome 7

Animal Models for Ring Chromosome 7 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ring Chromosome 7

Sources:
51PubMed
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Articles related to Ring Chromosome 7:

idTitleAuthorsYear
1
Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication. (21416596)
2011
2
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly. (8911601)
1996

Genetic Variations for Ring Chromosome 7

Expression for genes affiliated with Ring Chromosome 7

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ring Chromosome 7

Search GEO for disease gene expression data for Ring Chromosome 7.

Pathways for genes affiliated with Ring Chromosome 7

Sources:
54Reactome, 38NCBI BioSystems Database
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Pathways related to Ring Chromosome 7 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1GFAP, EGFR
29.1GFAP, EGFR

Compounds for genes affiliated with Ring Chromosome 7

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 24HMDB
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Compounds related to Ring Chromosome 7 according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1bcnu459.4EGFR, GFAP
2tetracycline45 1110.4GFAP, EGFR
3agar459.3GFAP, EGFR
4paclitaxel45 50 1111.3GFAP, EGFR
5pd 98,059459.3GFAP, EGFR
6paraffin459.2EGFR, GFAP
7genistein45 29 60 2 11 2414.2EGFR, GFAP
8cisplatin45 50 60 1112.1GFAP, EGFR
9testosterone45 60 11 2412.1EGFR, GFAP
10cycloheximide459.0EGFR, GFAP
11progesterone45 60 29 11 2412.8EGFR, GFAP

GO Terms for genes affiliated with Ring Chromosome 7

Products for genes affiliated with Ring Chromosome 7

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ring Chromosome 7

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet