MCID: C3H001
MIFTS: 9

C3hex, Ability to Smell

Categories: Genetic diseases

Aliases & Classifications for C3hex, Ability to Smell

MalaCards integrated aliases for C3hex, Ability to Smell:

Name: C3hex, Ability to Smell 58 30 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
c3hex (cis-3-hexen-1-ol) is commonly associated with sensory characteristics such as 'green' and 'grassy'


HPO:

33
c3hex, ability to smell:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615082
MedGen 43 C3554456
SNOMED-CT via HPO 70 263681008

Summaries for C3hex, Ability to Smell

OMIM : 58 Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by Jaeger et al., 2010). (615082)

MalaCards based summary : C3hex, Ability to Smell An important gene associated with C3hex, Ability to Smell is OR2J3 (Olfactory Receptor Family 2 Subfamily J Member 3).

Related Diseases for C3hex, Ability to Smell

Symptoms & Phenotypes for C3hex, Ability to Smell

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
c3hex, decreased ability to smell

Neurologic Central Nervous System:
c3hex, decreased ability to smell

Clinical features from OMIM:

615082

Drugs & Therapeutics for C3hex, Ability to Smell

Search Clinical Trials , NIH Clinical Center for C3hex, Ability to Smell

Genetic Tests for C3hex, Ability to Smell

Genetic tests related to C3hex, Ability to Smell:

# Genetic test Affiliating Genes
1 C3hex, Ability to Smell 30 OR2J3

Anatomical Context for C3hex, Ability to Smell

Publications for C3hex, Ability to Smell

Variations for C3hex, Ability to Smell

ClinVar genetic disease variations for C3hex, Ability to Smell:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OR2J3 NM_001005216.3(OR2J3): c.337A> G (p.Thr113Ala) single nucleotide variant Affects rs28757581 GRCh37 Chromosome 6, 29080004: 29080004
2 OR2J3 NM_001005216.3(OR2J3): c.337A> G (p.Thr113Ala) single nucleotide variant Affects rs28757581 GRCh38 Chromosome 6, 29112227: 29112227
3 OR2J3 NM_001005216.3(OR2J3): c.677G> A (p.Arg226Gln) single nucleotide variant Affects rs3749977 GRCh37 Chromosome 6, 29080344: 29080344
4 OR2J3 NM_001005216.3(OR2J3): c.677G> A (p.Arg226Gln) single nucleotide variant Affects rs3749977 GRCh38 Chromosome 6, 29112567: 29112567

Expression for C3hex, Ability to Smell

Search GEO for disease gene expression data for C3hex, Ability to Smell.

Pathways for C3hex, Ability to Smell

GO Terms for C3hex, Ability to Smell

Sources for C3hex, Ability to Smell

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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