Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	59341
Gene name	Transient receptor potential cation channel subfamily V member 4
Gene symbol	TRPV4
Synonyms (NCBI Gene)	BCYM3CMT2CHMSN2COTRPC4SMALSPSMASSQTL1TRP12VRL2VROAC
Chromosome	12
Chromosome location	12q24.11
Summary	This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought

Show/Hide all (64)

SNP ID	Visualize variation	Clinical significance	Consequence
rs77975504	C>T	Pathogenic	Coding sequence variant, missense variant
rs116571438	G>A,T	Pathogenic	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs121912632	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912633	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912634	T>C	Pathogenic	Coding sequence variant, missense variant
rs121912635	C>A	Pathogenic	Coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs121912636	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs121912637	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs138986228	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs141135321	G>A	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs187864727	C>A,T	Uncertain-significance, pathogenic, benign-likely-benign, benign	Missense variant, coding sequence variant
rs201241092	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs201815805	G>A,C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs267607143	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs267607144	C>T	Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs267607145	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs267607146	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs267607147	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs267607148	C>T	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs267607149	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs267607150	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906324	C>T	Pathogenic	Missense variant, coding sequence variant
rs387906902	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs387906903	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906904	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387906905	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387906906	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs387906907	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs387907219	C>G,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs387907220	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs397514473	G>A	Pathogenic	Missense variant, coding sequence variant
rs397514474	C>A	Pathogenic	Missense variant, coding sequence variant
rs397514494	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs515726152	C>A	Pathogenic	Missense variant, coding sequence variant
rs515726153	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs515726154	AAG>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion
rs515726155	->GGA	Pathogenic	Inframe insertion, coding sequence variant
rs515726157	T>C	Pathogenic	Missense variant, coding sequence variant
rs515726158	A>G	Pathogenic	Missense variant, coding sequence variant
rs515726159	A>G	Pathogenic	Missense variant, coding sequence variant
rs515726160	C>A	Pathogenic	Missense variant, coding sequence variant
rs515726161	G>C	Pathogenic	Missense variant, coding sequence variant
rs515726162	G>T	Pathogenic	Missense variant, coding sequence variant
rs515726163	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs515726164	C>T	Pathogenic	Missense variant, coding sequence variant
rs515726165	C>T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs515726166	TCATTCTTGCCCGGGTC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs515726167	C>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs515726169	C>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs515726170	G>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs515726171	T>C	Pathogenic	Missense variant, coding sequence variant
rs515726172	A>G	Pathogenic	Missense variant, coding sequence variant
rs541606391	G>-	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, frameshift variant
rs751139506	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs876661124	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1057520305	CGGG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064795536	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064795696	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1289139464	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555204446	A>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555204615	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555205335	A>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1555208063	T>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1565868973	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018474	hsa-miR-335-5p	Microarray	18185580
MIRT1457870	hsa-miR-1207-3p	CLIP-seq
MIRT1457871	hsa-miR-1207-5p	CLIP-seq
MIRT1457872	hsa-miR-1909	CLIP-seq
MIRT1457873	hsa-miR-3151	CLIP-seq
MIRT1457874	hsa-miR-4267	CLIP-seq
MIRT1457875	hsa-miR-4447	CLIP-seq
MIRT1457876	hsa-miR-4455	CLIP-seq
MIRT1457877	hsa-miR-4472	CLIP-seq
MIRT1457878	hsa-miR-4731-5p	CLIP-seq
MIRT1457879	hsa-miR-4755-3p	CLIP-seq
MIRT1457880	hsa-miR-4763-3p	CLIP-seq
MIRT1457881	hsa-miR-486-3p	CLIP-seq
MIRT1457882	hsa-miR-491-5p	CLIP-seq
MIRT2651544	hsa-miR-1200	CLIP-seq
MIRT2651545	hsa-miR-2278	CLIP-seq
MIRT2651546	hsa-miR-4324	CLIP-seq
MIRT2651547	hsa-miR-4468	CLIP-seq
MIRT2651548	hsa-miR-516a-3p	CLIP-seq
MIRT2651549	hsa-miR-544b	CLIP-seq

140

Show/Hide all (140)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0002024	Process	Diet induced thermogenesis	IEA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005034	Function	Osmosensor activity	IEA
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005080	Function	Protein kinase C binding	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IDA	12724311
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IDA	18458941, 29899501
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	TAS
GO:0005515	Function	Protein binding	IPI	16293632, 21262839, 29899501
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IMP	12724311
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005881	Component	Cytoplasmic microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15753126, 23136043, 29899501
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	ISS
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	18458941
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	NAS	11025659
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	12724311
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006884	Process	Cell volume homeostasis	TAS	12724311
GO:0006970	Process	Response to osmotic stress	IEA
GO:0006971	Process	Hypotonic response	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0007015	Process	Actin filament organization	ISS
GO:0007043	Process	Cell-cell junction assembly	IEA
GO:0007043	Process	Cell-cell junction assembly	ISS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	18458941
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007231	Process	Osmosensory signaling pathway	IBA
GO:0007231	Process	Osmosensory signaling pathway	IEA
GO:0007231	Process	Osmosensory signaling pathway	ISS
GO:0007231	Process	Osmosensory signaling pathway	TAS	12724311
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0008289	Function	Lipid binding	IEA
GO:0009612	Process	Response to mechanical stimulus	TAS	15753126
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010759	Process	Positive regulation of macrophage chemotaxis	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0015275	Function	Stretch-activated, monoatomic cation-selective, calcium channel activity	IMP	23136043
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11025659
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	12538589
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030103	Process	Vasopressin secretion	IEA
GO:0030175	Component	Filopodium	IEA
GO:0030175	Component	Filopodium	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0030864	Component	Cortical actin cytoskeleton	ISS
GO:0031117	Process	Positive regulation of microtubule depolymerization	IEA
GO:0031117	Process	Positive regulation of microtubule depolymerization	ISS
GO:0032587	Component	Ruffle membrane	IEA
GO:0032587	Component	Ruffle membrane	ISS
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034605	Process	Cellular response to heat	IEA
GO:0034605	Process	Cellular response to heat	ISS
GO:0042169	Function	SH2 domain binding	IEA
GO:0042169	Function	SH2 domain binding	ISS
GO:0042538	Process	Hyperosmotic salinity response	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042802	Function	Identical protein binding	IPI	26146187
GO:0042995	Component	Cell projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0043014	Function	Alpha-tubulin binding	ISS
GO:0043117	Process	Positive regulation of vascular permeability	IEA
GO:0043117	Process	Positive regulation of vascular permeability	IMP	23136043
GO:0043622	Process	Cortical microtubule organization	IEA
GO:0043622	Process	Cortical microtubule organization	ISS
GO:0045989	Process	Positive regulation of striated muscle contraction	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046785	Process	Microtubule polymerization	IEA
GO:0046785	Process	Microtubule polymerization	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0047484	Process	Regulation of response to osmotic stress	IEA
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0048487	Function	Beta-tubulin binding	ISS
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050891	Process	Multicellular organismal-level water homeostasis	IEA
GO:0050891	Process	Multicellular organismal-level water homeostasis	IMP	23136043
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IMP	26249260
GO:0070161	Component	Anchoring junction	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070509	Process	Calcium ion import	IEA
GO:0070509	Process	Calcium ion import	ISS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IMP	23136043
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0071470	Process	Cellular response to osmotic stress	IEA
GO:0071470	Process	Cellular response to osmotic stress	ISS
GO:0071476	Process	Cellular hypotonic response	IEA
GO:0071476	Process	Cellular hypotonic response	IMP	23136043
GO:0071476	Process	Cellular hypotonic response	ISS
GO:0071477	Process	Cellular hypotonic salinity response	IEA
GO:0071639	Process	Positive regulation of monocyte chemotactic protein-1 production	IEA
GO:0071642	Process	Positive regulation of macrophage inflammatory protein 1 alpha production	IEA
GO:0071651	Process	Positive regulation of chemokine (C-C motif) ligand 5 production	IEA
GO:0097009	Process	Energy homeostasis	IEA
GO:0097497	Process	Blood vessel endothelial cell delamination	IMP	23136043
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1902656	Process	Calcium ion import into cytosol	IDA	29899501
GO:1902656	Process	Calcium ion import into cytosol	IEA
GO:1903444	Process	Negative regulation of brown fat cell differentiation	IEA
GO:1903715	Process	Regulation of aerobic respiration	IEA
GO:2000340	Process	Positive regulation of chemokine (C-X-C motif) ligand 1 production	IEA

MIM	HGNC	e!Ensembl
605427	18083	ENSG00000111199

Q9HBA0

Protein name

Transient receptor potential cation channel subfamily V member 4 (TrpV4) (Osm-9-like TRP channel 4) (OTRPC4) (Transient receptor potential protein 12) (TRP12) (Vanilloid receptor-like channel 2) (Vanilloid receptor-like protein 2) (VRL-2) (Vanilloid recep

Protein function

Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:22526352, PubMed:23136043, PubMed:29899501). Activation by exposure to hypotonicity w

PDB

4DX1 , 4DX2 , 7AA5 , 8FC7 , 8FC8 , 8FC9 , 8FCA , 8FCB , 8JU5 , 8JU6 , 8JVI , 8JVJ , 8T1B , 8T1C , 8T1D , 8T1E , 8T1F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00023	Ank	237 → 268	Ankyrin repeat	Repeat
PF00520	Ion_trans	469 → 730	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level). {ECO:0000269|PubMed:19759329}.

Sequence

MADSSEGPRAGPGEVAELPGDESGTPGGEAFPLSSLANLFEGEDGSLSPSPADASRPAGP
GDGRPNLRMKFQGAFRKGVPNPIDLLESTLYESSVVPGPKKAPMDSLFDYGTYRHHSSDN
KRWRKKIIEKQPQSPKAPAPQPPPILKVFNRPILFDIVSRGSTADLDGLLPFLLTHKKRL
TDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIAERTGNMREFINSPFRDIYYRGQT
ALHIAIERRCKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLSLAACTNQPHI
VNYLTENPHKKADMRRQDSRGNTVLHALVAIADNTRENTKFVTKMYDLLLLKCARLFPDS
NLEAVLNNDGLSPLMMAAKTGKIGIFQHIIRREVTDEDTRHLSRKFKDWAYGPVYSSLYD
LSSLDTCGEEASVLEILVYNSKIENRHEMLAVEPINELLRDKWRKFGAVSFYINVVSYLC
AMVIFTLTAYYQPLEGTPPYPYRTTVDYLRLAGEVITLFTGVLFFFTNIKDLFMKKCPGV
NSLFIDGSFQLLYFIYSVLVIVSAALYLAGIEAYLAVMVFALVLGWMNALYFTRGLKLTG
TYSIMIQKILFKDLFRFLLVYLLFMIGYASALVSLLNPCANMKVCNEDQTNCTVPTYPSC
RDSETFSTFLLDLFKLTIGMGDLEMLSSTKYPVVFIILLVTYIILTFVLLLNMLIALMGE
TVGQVSKESKHIWKLQWATTILDIERSFPVFLRKAFRSGEMVTVGKSSDGTPDRRWCFRV
DEVNWSHWNQNLGIINEDPGKNETYQYYGFSHTVGRLRRDRWSSVVPRVVELNKNSNPDE
VVVPLDSMGNPRCDGHQQGYPRKWRTDDAPL

Sequence length

871

Interactions

View interactions

	KEGG		Reactome
	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis		TRP channels

2151

Show/Hide Causal Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Auditory neuropathy	Likely pathogenic	rs1392028993	RCV003484471
Brachyrachia (short spine dysplasia)	Pathogenic; Likely pathogenic	rs121912632, rs121912633, rs267607149	RCV000005280 RCV000005281 RCV001331193
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs121912633, rs267607144, rs267607145, rs387906904, rs387906905	RCV001172890 RCV000192243 RCV000192245 RCV001172888 RCV000856932
Charcot-Marie-Tooth disease axonal type 2C	Likely pathogenic; Pathogenic	rs1889549195, rs763354006, rs746368269, rs515726153, rs515726154, rs515726162, rs387906905, rs2136466291, rs868185064, rs769107613, rs2136468103, rs2136413100, rs1289139464, rs121912632, rs121912633 View all (17 more)	RCV001313495 RCV001349395 RCV001386963 RCV001854531 RCV003505097 RCV003505098 RCV002036118 RCV002002352 RCV002005612 RCV001986871 RCV001972848 RCV001983529 RCV002226614 RCV003505079 RCV000545248 RCV000691603 RCV000707315 RCV000005291 RCV000005293 RCV000005294 RCV000005296 RCV002909907 RCV003611731 RCV003991824 RCV005089285 RCV000805229 RCV001851964 RCV001851965 RCV000023426 RCV000023429 RCV000023430 RCV000823337 RCV000032600 RCV000645554 RCV000645547 RCV001064018 RCV001197313
Clubfoot	Likely pathogenic; Pathogenic	rs387906905	RCV000415397
Connective tissue disorder	Likely pathogenic	rs121912635	RCV002278822
Distal spinal muscular atrophy	Pathogenic	rs267607146	RCV000856933
EMG abnormality	Likely pathogenic; Pathogenic	rs387906905	RCV000415397
Familial digital arthropathy-brachydactyly	Pathogenic	rs515726170, rs387907219, rs387907220	RCV000202455 RCV000029173 RCV000029174
Hereditary motor neuron disease	Pathogenic	rs267607146	RCV001027476
Lower limb amyotrophy	Likely pathogenic; Pathogenic	rs387906905	RCV000415397
Metatropic dysplasia	Pathogenic; Likely pathogenic	rs515726153, rs515726154, rs515726163, rs2136430908, rs2136417904, rs2136475122, rs121912633, rs77975504, rs121912636, rs121912637, rs2548767534, rs267607147, rs267607149, rs1565868973, rs397514473 View all (4 more)	RCV001804841 RCV002279715 RCV000755170 RCV001806357 RCV002238712 RCV002238713 RCV003992145 RCV001618207 RCV000005286 RCV000005287 RCV003330372 RCV000005298 RCV000005299 RCV000005300 RCV000023424 RCV000735909 RCV000023427 RCV000023431 RCV000023432 RCV000023433 RCV001256207
Multiple epiphyseal dysplasia	Likely pathogenic; Pathogenic	rs77975504	RCV005624676
Neuromuscular disease	Pathogenic; Likely pathogenic	rs515726166, rs121912633, rs77975504, rs267607143, rs267607144, rs267607145, rs267607146, rs121912637, rs267607148, rs267607149, rs387906902, rs387906904, rs387906905, rs397514474, rs387906906, rs387906907, rs397514494 View all (2 more)	RCV000202488 RCV000202535 RCV000202560 RCV000202514 RCV000202467 RCV000202561 RCV000202537 RCV000202509 RCV000202563 RCV000202566 RCV000202508 RCV000202445 RCV000202476 RCV000202458 RCV000202544 RCV000202517 RCV000202485
Neuronopathy, distal hereditary motor, autosomal dominant	Likely pathogenic; Pathogenic	rs267607143, rs267607145, rs876661124, rs387906904	RCV000789585 RCV000789587 RCV000789593 RCV000789594
Neuronopathy, distal hereditary motor, autosomal dominant 8	Likely pathogenic; Pathogenic	rs77975504, rs267607143, rs267607144, rs267607146, rs1341025285, rs387906904, rs397514494	RCV002243623 RCV000005289 RCV000005292 RCV000190885 RCV004566605 RCV000190886 RCV000190887
Parastremmatic dwarfism	Likely pathogenic; Pathogenic	rs77975504, rs121912637	RCV000005283 RCV001253672
Scapuloperoneal spinal muscular atrophy	Likely pathogenic; Pathogenic	rs267607143, rs267607145, rs267607146, rs267607149	RCV000005290 RCV000005295 RCV000033215 RCV001823100
Skeletal dysplasia	Pathogenic; Likely pathogenic	rs515726153, rs515726154, rs515726162, rs515726163, rs515726166, rs515726172, rs121912632, rs121912633, rs77975504, rs121912634, rs121912636, rs121912637, rs267607147, rs267607148, rs267607149 View all (8 more)	RCV000202504 RCV000202564 RCV000202452 RCV000202495 RCV000202488 RCV000202451 RCV000202519 RCV000202464 RCV000202560 RCV000202481 RCV000202518 RCV000202554 RCV000202484 RCV000202509 RCV000202563 RCV000202566 RCV000202438 RCV000202448 RCV000202508 RCV000202521 RCV000202445 RCV000202458 RCV000202544 RCV000202517
Skeletal dysplasia and progressive central nervous system degeneration, lethal	Likely pathogenic; Pathogenic	rs515726154	RCV001376047
Spondyloepimetaphyseal dysplasia, Maroteaux type	Pathogenic; Likely pathogenic	rs515726166, rs121912637, rs267607149, rs387906324, rs267607150	RCV002279935 RCV000005288 RCV000005304 RCV000005306 RCV000023425
Spondylometaphyseal dysplasia, Kozlowski type	Likely pathogenic; Pathogenic	rs515726162, rs77975504, rs121912634, rs121912637, rs267607148, rs267607149, rs387906904	RCV004595924 RCV000005282 RCV000005284 RCV003388565 RCV000005302 RCV000005303 RCV001542600
Tip-toe gait	Likely pathogenic	rs1289139464	RCV003319508
TRPV4-Associated Disorders	Likely pathogenic; Pathogenic	rs267607143	RCV003335013
TRPV4-related bone disorder	Pathogenic; Likely pathogenic	rs767079858, rs267607144	RCV001795573 RCV003320352
TRPV4-related disorder	Likely pathogenic; Pathogenic	rs2136413100, rs121912637, rs267607143, rs267607145, rs397514473, rs1064795536	RCV004553613 RCV005867724 RCV004547459 RCV001796956 RCV004549386 RCV005416274

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1057520305, rs1555204446	-
Amyotrophic lateral sclerosis type 5	Uncertain significance	rs1555205050	RCV003330862
Brachyolmia	Likely benign	rs142656819, rs56079803	RCV000320114 RCV000361825
Cervical cancer	Benign	rs34599967, rs115373018	RCV005895373 RCV005894129
Charcot-Marie-Tooth disease axonal type 2X	Uncertain significance	rs1555205050	RCV003330862
Charcot-Marie-Tooth disease type 2	Likely benign	rs142656819, rs56079803	RCV000374803 RCV000304829
Charcot-Marie-Tooth disease type 4	Conflicting classifications of pathogenicity; Uncertain significance	rs142902080, rs1191951496	RCV000856931 RCV000856930
Charcot-Marie-Tooth disease, type I	Uncertain significance	rs772563295	RCV000856937
Cholangiocarcinoma	Benign	rs115373018	RCV005894132
Clear cell carcinoma of kidney	Benign	rs34599967	RCV005895374
Congenital myopathy	Conflicting classifications of pathogenicity	rs777647151	RCV005622077
Distal myopathy	Conflicting classifications of pathogenicity	rs140602150	RCV005625478
Familial cancer of breast	Likely benign	rs755945349	RCV005908891
Gastric cancer	Benign	rs115373018	RCV005894130
Glioma susceptibility 1	Likely benign	rs150719390	RCV005908897
Lung cancer	Benign	rs34599967, rs115373018	RCV005895378 RCV005894133
Malignant tumor of esophagus	Likely benign; Benign	rs61581475, rs115373018	RCV005916037 RCV005894128
Mild short stature	Uncertain significance	rs2136412443	RCV001785364
Myoepithelial tumor	Uncertain significance	rs2548741372	RCV002463947
Ovarian serous cystadenocarcinoma	Benign	rs34599967	RCV005895376
Sarcoma	Benign	rs34599967	RCV005895375
See cases	Uncertain significance	rs1184985507, rs866577166	RCV002253083 RCV002252299
Sodium serum level quantitative trait locus 1	Benign	rs3742030	RCV000005297
Spondylometaphyseal dysplasia	Likely benign	rs142656819, rs56079803	RCV000260257 RCV000403690
Thymoma	Likely benign	rs752125058	RCV005926070
Thyroid cancer, nonmedullary, 1	Benign	rs34599967	RCV005895377
TRPV4-associated skeletal dysplasias	Conflicting classifications of pathogenicity	rs1890412444	RCV001270864
Uterine carcinosarcoma	Benign	rs115373018	RCV005894131
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs34599967, rs115373018, rs998369017	RCV005895379 RCV005894134 RCV005910894

Show/Hide Text Mining Associations (108)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholic Neuropathy	Associate	21454511
Alzheimer Disease	Associate	21658220
Arthritis Rheumatoid	Associate	19759329
Arthrogryposis	Associate	25900305
Atrial Fibrillation	Stimulate	28839241
Bone Diseases	Associate	27330106
Bone Diseases Developmental	Associate	28687525
Brachyolmia	Associate	21658220, 40019039
Brachyolmia Type 3	Associate	18587396, 19232556, 21658220
Brain Edema	Associate	33538957
Breast Neoplasms	Associate	21685934, 33322037, 37353484
Carcinogenesis	Inhibit	24643128
Carcinoma Non Small Cell Lung	Stimulate	34995050
Carcinoma Papillary	Associate	24868547
Carcinoma Renal Cell	Associate	35558077
Carcinoma Squamous Cell	Associate	28081185
Cartilage Diseases	Associate	24559391
Channelopathies	Associate	20104247, 30385747, 33685999, 35170874, 36403799
Channelopathies	Stimulate	33685999
Charcot Marie Tooth Disease	Associate	26362287
Charcot Marie Tooth disease Type 1C	Stimulate	36614264
Charcot Marie Tooth disease Type 2C	Associate	20037586, 20104247, 25900305
Cherubism	Associate	30385747, 33685999
Colitis	Associate	30243087
Colitis Ulcerative	Associate	32455137
Colonic Neoplasms	Associate	32186440, 38188686
Colorectal Neoplasms	Associate	34814869, 38188686
COVID 19	Associate	33081023
Coxa Magna	Associate	27330106
Cystic Fibrosis	Associate	15489228
Cystitis	Associate	33664402
Death	Associate	35563594
Depressive Disorder	Associate	24143878
Diabetes Mellitus Type 2	Associate	36495765
Diabetic Nephropathies	Associate	23049542
Drug Related Side Effects and Adverse Reactions	Associate	20037586, 21454511
Drug Related Side Effects and Adverse Reactions	Inhibit	35170874
Dyspepsia	Associate	27687509
Edema	Associate	33538957
Endometriosis	Associate	30134548
Esophageal Squamous Cell Carcinoma	Associate	30761248
Exotropia	Associate	32529806
Familial Primary Pulmonary Hypertension	Associate	24920677
Flushing	Associate	25752528
Gaucher Disease Perinatal Lethal	Associate	32319342
Genetic Diseases Inborn	Associate	20037587, 20104247
Glaucoma	Associate	35563594
Gliosis	Stimulate	35563594
Growth Disorders	Associate	21115951, 31808622
Haspeslagh Fryns Muelenaere syndrome	Associate	28849159
Helicobacter Infections	Inhibit	27687509
HEM dysplasia	Associate	19232556, 20037586, 21658220, 24559391, 25900305, 27530454, 30693671, 31808622, 32319342, 33685999, 35170874, 36403799, 36810131, 40019039
Hereditary Motor And Sensory Neuropathy Type IIC	Associate	20037587, 20037588, 21115951
Hereditary Sensory and Motor Neuropathy	Associate	20037588
Hyperalgesia	Associate	26358221
Hypertension	Associate	23049542
Hypertrophy	Associate	36810131
Hypophosphatasia	Associate	39519277
Infections	Associate	27687509
Inflammation	Associate	19695100, 21245013, 26358221, 32708074, 34669779, 36495765, 36583692
Inflammatory Bowel Diseases	Stimulate	30243087
Intervertebral Disc Degeneration	Associate	36583692
Kallmann Syndrome	Associate	32529806
Kozlowski Tsuruta Taki syndrome	Associate	19232556
Low Back Pain	Associate	32708074
Lung Neoplasms	Associate	34669779
Lymphoma B Cell Marginal Zone	Associate	28081185
Melanoma	Associate	35456964, 36499486
Metabolic Syndrome	Inhibit	25967713
Metatropic dwarfism	Associate	19232556, 20425821, 21658220, 24559391, 27530454, 27567651, 31808622, 32319342, 40019039
Muscular Atrophy Spinal	Associate	20037587, 20037588, 20104247, 25900305
Musculoskeletal Abnormalities	Associate	33685999
Musculoskeletal Diseases	Associate	27530454
Neoplasm Metastasis	Associate	34814869, 36499486
Neoplasms	Associate	21685934, 28081185, 32186440, 33538957, 34199609, 34814869, 34995050, 35558077, 36499486
Neoplasms	Inhibit	24643128
Neoplastic Syndromes Hereditary	Associate	20037588
Nervous System Diseases	Associate	25900305, 33685999, 34321341, 35170874
Neurodegenerative Diseases	Associate	20037586
Neuromuscular Diseases	Associate	30693671, 33685999, 37353484
Oculomotor Nerve Injuries	Associate	21115951
Osteoarthritis	Stimulate	26632350
Osteogenesis Imperfecta	Associate	32529806
Osteogenesis imperfecta Levin type	Associate	33685999
Osteonecrosis	Associate	27330106
Pain	Associate	19695100, 26358221, 35806193
Peripheral Nervous System Diseases	Associate	20037587, 25900305, 27530454, 35806193
Polyneuropathies	Associate	33685999
Pre Eclampsia	Associate	32319342
Ptosis Hereditary Congenital 2	Associate	32529806
Pulmonary Arterial Hypertension	Associate	34349187
Pulmonary Disease Chronic Obstructive	Associate	20639579, 21245013
Respiratory Tract Diseases	Associate	21245013, 33081023
Retinal Diseases	Associate	29433476
Rosacea	Associate	22189789
Sexual Dysfunction Physiological	Associate	24559391
Skin Neoplasms	Inhibit	24643128
Skin Neoplasms	Associate	34199609
Sleep Apnea Syndromes	Associate	21115951
Small Fiber Neuropathy	Associate	36430572
Spinal Diseases	Associate	19232556
Spondylometaphyseal dysplasia Kozlowski type	Associate	19232556, 21658220, 28687525, 36403799
Squamous Cell Carcinoma of Head and Neck	Stimulate	28081185
Strudwick syndrome	Associate	19232556, 28687525
Syndrome	Associate	33685999
Thrombocytosis	Associate	32319342
Urologic Diseases	Associate	35437956
Vocal Cord Paralysis	Associate	21115951, 35170874

TRPV4 (transient receptor potential cation channel subfamily V member 4)