Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		0.100 Biomarker disease HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.310 Biomarker phenotype BEFREE Pretreatment of mice with the pharmacological TRPV4 inhibitor HC067047 prior to paclitaxel injections prevented electrophysiological and behavioral changes associated with paclitaxel-induced neuropathy. 29715474 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.310 Biomarker phenotype GENOMICS_ENGLAND Monozygotic twins affected with Kleine-Levin syndrome. 22547884 2012
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		0.020 GeneticVariation disease BEFREE SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae. 28687525 2017
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		0.020 GeneticVariation disease BEFREE Overexpression of a mutant TRPV4 caused a lethal skeletal dysplasia that phenocopied many abnormalities associated with metatropic dysplasia in humans, including dumbbell-shaped long bones, a small ribcage, abnormalities in the autopod, and abnormal ossification in the vertebrae. 24644033 2014
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		0.100 Biomarker disease HPO
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		0.100 Biomarker disease HPO
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C3277127
Disease: Abnormal metaphyseal vascular invasion
Abnormal metaphyseal vascular invasion 		0.100 Biomarker phenotype HPO
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		0.100 Biomarker phenotype HPO
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 Biomarker phenotype HPO
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.100 Biomarker phenotype HPO
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		0.100 Biomarker disease HPO
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		0.100 Biomarker disease HPO
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		0.100 Biomarker disease HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.100 Biomarker disease HPO
CUI: C3277126
Disease: Absent primary metaphyseal spongiosa
Absent primary metaphyseal spongiosa 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.010 Biomarker disease BEFREE TRPV4 was also present in the endolymphatic sacs of patients with vestibular schwannoma and with Ménière's disease. 19066426 2009
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0398350
Disease: Acute cardiac pulmonary edema
Acute cardiac pulmonary edema 		0.010 Biomarker disease BEFREE Pulmonary capillary endothelial transient receptor potential vanilloid 4 (TRPV4) channel plays a critical role in mediating the development of cardiogenic pulmonary edema. 30637626 2019
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.010 Biomarker disease BEFREE These data indicate that TRPV4 channels may represent a potential target to ameliorate the PID-induced calcium overload of astrocytes and neurons during acute stroke. 28639721 2017
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 Biomarker disease BEFREE The above data support that TRPV1-4 channels are implicated in meningioma pathogenesis, and TRPV4 has predictive significance in the disease. 31119368 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 GeneticVariation disease BEFREE The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13.1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21.2-q21.3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26). 11231025 2001
CUI: C0085623
Disease: Akinesia
Akinesia 		0.010 GeneticVariation disease BEFREE Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe "overlap" phenotype. 21964829 2011