MCID: C3H001
MIFTS: 11

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 57 29 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
c3hex, ability to smell:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615082
MedGen 41 C3554456
SNOMED-CT via HPO 68 263681008

Summaries for C3hex, Ability to Smell

OMIM® : 57 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) (Updated 05-Apr-2021)

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®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
c3hex, decreased ability to smell

Neurologic Central Nervous System:
c3hex, decreased ability to smell

Clinical features from OMIM®:

615082 (Updated 05-Apr-2021)

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 29 OR2J3

Anatomical Context for C3hex, Ability to Smell

Publications for C3hex, Ability to Smell

Articles related to C3hex, Ability to Smell:

# Title Authors PMID Year
1
Genetic variation in the odorant receptor OR2J3 is associated with the ability to detect the "grassy" smelling odor, cis-3-hexen-1-ol. 6 57
22714804 2012

Variations for C3hex, Ability to Smell

ClinVar genetic disease variations for C3hex, Ability to Smell:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OR2J3 NM_001005216.3(OR2J3):c.337A>G (p.Thr113Ala) SNV Affects 40011 rs28757581 GRCh37: 6:29080004-29080004
GRCh38: 6:29112227-29112227
2 OR2J3 NM_001005216.3(OR2J3):c.677G>A (p.Arg226Gln) SNV Affects 40012 rs3749977 GRCh37: 6:29080344-29080344
GRCh38: 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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