Gene Symbol:
TRPV4
HGNC:18083
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q24.11
Filters:

Autosomal dominant brachyolmia classifications

autosomal dominant brachyolmia
Submitted as: OMIM:113500
AD
01/04/2021
Evaluated
03/31/2021
Submitted
autosomal dominant brachyolmia
Submitted as: Orphanet:93304
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant brachyolmia
Submitted as: OMIM:113500
AD
09/01/2021
Evaluated
11/30/2023
Submitted

Brachyolmia classifications

Charcot-Marie-Tooth disease axonal type 2C classifications

Charcot-Marie-Tooth disease axonal type 2C
Submitted as: Orphanet:99937
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease axonal type 2C
Submitted as: OMIM:606071
AD
10/14/2022
Evaluated
11/30/2023
Submitted

Familial avascular necrosis of femoral head classifications

familial avascular necrosis of femoral head
Submitted as: Orphanet:86820
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Familial digital arthropathy-brachydactyly classifications

familial digital arthropathy-brachydactyly
Submitted as: Orphanet:85169
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Metatropic dysplasia classifications

metatropic dysplasia
Submitted as: OMIM:156530
AD
07/22/2015
Evaluated
09/11/2023
Submitted
metatropic dysplasia
Submitted as: Orphanet:2635
AD
09/14/2021
Evaluated
09/14/2021
Submitted
metatropic dysplasia
AD
12/08/2020
Evaluated
10/18/2023
Submitted

Neuromuscular disease classifications

neuromuscular disease
AD
12/14/2021
Evaluated
10/18/2023
Submitted

Neuronopathy, distal hereditary motor, autosomal dominant 8 classifications

neuronopathy, distal hereditary motor, autosomal dominant 8
Submitted as: Orphanet:1216
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Parastremmatic dwarfism classifications

parastremmatic dwarfism
Submitted as: Orphanet:2646
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Scapuloperoneal spinal muscular atrophy, autosomal dominant classifications

scapuloperoneal spinal muscular atrophy, autosomal dominant
Submitted as: Orphanet:431255
AD
09/14/2021
Evaluated
09/14/2021
Submitted
scapuloperoneal spinal muscular atrophy, autosomal dominant
Submitted as: OMIM:181405
AD
01/28/2019
Evaluated
09/28/2021
Submitted

Spondyloepimetaphyseal dysplasia, Maroteaux type classifications

spondyloepimetaphyseal dysplasia, Maroteaux type
AD
05/19/2021
Evaluated
10/18/2023
Submitted

Spondylometaphyseal dysplasia, Kozlowski type classifications

spondylometaphyseal dysplasia, Kozlowski type
Submitted as: OMIM:184252
AD
07/22/2015
Evaluated
09/11/2023
Submitted
spondylometaphyseal dysplasia, Kozlowski type
Submitted as: Orphanet:93314
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spondylometaphyseal dysplasia, Kozlowski type
AD
06/07/2021
Evaluated
10/18/2023
Submitted

TRPV4-related bone disorder classifications

TRPV4-related bone disorder
AD
04/24/2019
Evaluated
10/27/2022
Submitted

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