MCID: TRP028
MIFTS: 7

Trpv4-Related Bone Disorder

Categories: Bone diseases, Rare diseases
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Aliases & Classifications for Trpv4-Related Bone Disorder

MalaCards integrated aliases for Trpv4-Related Bone Disorder:

Name: Trpv4-Related Bone Disorder 58 5

Classifications:



External Ids:

Orphanet 58 ORPHA364820

Summaries for Trpv4-Related Bone Disorder

MalaCards based summary: Trpv4-Related Bone Disorder An important gene associated with Trpv4-Related Bone Disorder is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone.

Related Diseases for Trpv4-Related Bone Disorder

Diseases in the Bone Disease family:

Trpv4-Related Bone Disorder

Symptoms & Phenotypes for Trpv4-Related Bone Disorder

Drugs & Therapeutics for Trpv4-Related Bone Disorder

Search Clinical Trials, NIH Clinical Center for Trpv4-Related Bone Disorder

Genetic Tests for Trpv4-Related Bone Disorder

Anatomical Context for Trpv4-Related Bone Disorder

Organs/tissues related to Trpv4-Related Bone Disorder:

MalaCards : Bone

Publications for Trpv4-Related Bone Disorder

Articles related to Trpv4-Related Bone Disorder:

# Title Authors PMID Year
1
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic. 5
31947737 2020

Variations for Trpv4-Related Bone Disorder

ClinVar genetic disease variations for Trpv4-Related Bone Disorder:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV4 NM_021625.5(TRPV4):c.245C>T (p.Pro82Leu) SNV Pathogenic
1328137 GRCh37: 12:110252357-110252357
GRCh38: 12:109814552-109814552
2 TRPV4 NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) SNV Not Provided
1181887 GRCh37: 12:110231356-110231356
GRCh38: 12:109793551-109793551

Expression for Trpv4-Related Bone Disorder

Search GEO for disease gene expression data for Trpv4-Related Bone Disorder.

Pathways for Trpv4-Related Bone Disorder

GO Terms for Trpv4-Related Bone Disorder

Sources for Trpv4-Related Bone Disorder

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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