CleftGeneDB-Search

Gene: WNT5A

Basic information

Tag	Content
Uniprot ID	P41221; A8K4A4; Q6P278;
Entrez ID	7474
Genbank protein ID	EAW65310.1; BAF83558.1; AAH64694.1; BAF83064.1; AAA16842.1;
Genbank nucleotide ID	XM_011534088.2; XM_011534089.1; XM_011534087.2; NM_003392.4; NM_001256105.1; XM_006713324.1; XM_017007128.1; XM_011534086.2; XM_011534085.2;
Ensembl protein ID	ENSP00000420104; ENSP00000264634; ENSP00000417310;
Ensembl nucleotide ID	ENSG00000114251
Gene name	Protein Wnt-5a
Gene symbol	WNT5A
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	18413325; 14755462;
Functional description	Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor (PubMed:15735754). Mediates motility of melanoma cells (PubMed:17426020). Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle. Inhibits type II collagen expression in chondrocytes (By similarity).
Sequence	MKKSIGILSP GVALGMAGSA MSSKFFLVAL AIFFSFAQVV IEANSWWSLG MNNPVQMSEV 60 YIIGAQPLCS QLAGLSQGQK KLCHLYQDHM QYIGEGAKTG IKECQYQFRH RRWNCSTVDN 120 TSVFGRVMQI GSRETAFTYA VSAAGVVNAM SRACREGELS TCGCSRAARP KDLPRDWLWG 180 GCGDNIDYGY RFAKEFVDAR ERERIHAKGS YESARILMNL HNNEAGRRTV YNLADVACKC 240 HGVSGSCSLK TCWLQLADFR KVGDALKEKY DSAAAMRLNS RGKLVQVNSR FNSPTTQDLV 300 YIDPSPDYCV RNESTGSLGT QGRLCNKTSE GMDGCELMCC GRGYDQFKTV QTERCHCKFH 360 WCCYVKCKKC TEIVDQFVCK

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	WNT5A	530005	E1BDG5			Bos taurus	Prediction	More>>
1:1 ortholog	WNT5A	484721	J9P5H0			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	WNT5A	102170921	A0A452EUB6			Capra hircus	Prediction	More>>
1:1 ortholog	WNT5A	7474	P41221			Homo sapiens	Publication	More>>
1:1 ortholog	Wnt5a	22418	P22725	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	WNT5A	100627056	A0A287A1J0			Sus scrofa	Prediction	More>>
1:1 ortholog	Wnt5a	64566	F2Z3U1			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
WNT5A	rs566926	Genotyping; PDT; and APL	18413325

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000363742	p.Ile5Thr	missense variant	-	NC_000003.12:g.55480911A>G	ClinVar
rs370383438	p.Ile5Val	missense variant	-	NC_000003.12:g.55480912T>C	ESP,ExAC,TOPMed,gnomAD
rs370383438	p.Ile5Phe	missense variant	-	NC_000003.12:g.55480912T>A	ESP,ExAC,TOPMed,gnomAD
rs200914260	p.Ile5Ser	missense variant	-	NC_000003.12:g.55480911A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200914260	p.Ile5Thr	missense variant	-	NC_000003.12:g.55480911A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776543464	p.Gly6Glu	missense variant	-	NC_000003.12:g.55480908C>T	ExAC,gnomAD
rs1292414238	p.Gly6Arg	missense variant	-	NC_000003.12:g.55480909C>T	TOPMed
rs554762368	p.Ile7Thr	missense variant	-	NC_000003.12:g.55480905A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs183555808	p.Ile7Leu	missense variant	-	NC_000003.12:g.55480906T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1319138082	p.Gly11Arg	missense variant	-	NC_000003.12:g.55480894C>T	gnomAD
rs1414051938	p.Val12Ala	missense variant	-	NC_000003.12:g.55480890A>G	gnomAD
rs1400348463	p.Ala13Pro	missense variant	-	NC_000003.12:g.55480888C>G	gnomAD
RCV000311901	p.Leu14Ser	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55480884A>G	ClinVar
rs886058746	p.Leu14Ser	missense variant	-	NC_000003.12:g.55480884A>G	-
rs867828828	p.Gly15Trp	missense variant	-	NC_000003.12:g.55480882C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly15Arg	missense variant	-	NC_000003.12:g.55480882C>T	NCI-TCGA
rs778287090	p.Gly15Glu	missense variant	-	NC_000003.12:g.55480881C>T	ExAC,TOPMed,gnomAD
rs1389369896	p.Gly18Ala	missense variant	-	NC_000003.12:g.55480872C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly18Glu	missense variant	-	NC_000003.12:g.55480872C>T	NCI-TCGA
rs1476385299	p.Ala20Thr	missense variant	-	NC_000003.12:g.55480867C>T	TOPMed,gnomAD
rs1242190462	p.Met21Val	missense variant	-	NC_000003.12:g.55480864T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Met21Lys	missense variant	-	NC_000003.12:g.55480863A>T	NCI-TCGA
rs1242190462	p.Met21Leu	missense variant	-	NC_000003.12:g.55480864T>A	TOPMed,gnomAD
rs748871825	p.Met21Thr	missense variant	-	NC_000003.12:g.55480863A>G	ExAC,TOPMed,gnomAD
rs1399954454	p.Lys24Gln	missense variant	-	NC_000003.12:g.55480855T>G	TOPMed
rs908288616	p.Phe26Ser	missense variant	-	NC_000003.12:g.55480848A>G	TOPMed
rs149311661	p.Leu27Pro	missense variant	-	NC_000003.12:g.55480845A>G	1000Genomes,gnomAD
rs781650629	p.Leu27Ile	missense variant	-	NC_000003.12:g.55480846G>T	ExAC
COSM1047424	p.Ala29Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55480840C>A	NCI-TCGA Cosmic
rs1340579712	p.Leu30Ser	missense variant	-	NC_000003.12:g.55480836A>G	TOPMed
rs371157119	p.Ala31Val	missense variant	-	NC_000003.12:g.55480833G>A	ESP,ExAC,TOPMed,gnomAD
rs1213316012	p.Ile32Met	missense variant	-	NC_000003.12:g.55480829T>C	gnomAD
rs752083941	p.Ile32Val	missense variant	-	NC_000003.12:g.55480831T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe33Leu	missense variant	-	NC_000003.12:g.55480826A>T	NCI-TCGA
RCV000595735	p.Ser35Phe	missense variant	-	NC_000003.12:g.55480821G>A	ClinVar
rs1553679404	p.Ser35Phe	missense variant	-	NC_000003.12:g.55480821G>A	-
rs1270786128	p.Phe36Ile	missense variant	-	NC_000003.12:g.55480819A>T	gnomAD
rs374082538	p.Phe36Leu	missense variant	-	NC_000003.12:g.55480817G>C	ESP,ExAC,TOPMed,gnomAD
rs190451046	p.Ala37Gly	missense variant	-	NC_000003.12:g.55480815G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000395223	p.Ala37Gly	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55480815G>C	ClinVar
NCI-TCGA novel	p.Ala37Thr	missense variant	-	NC_000003.12:g.55480816C>T	NCI-TCGA
rs1435625630	p.Gln38His	missense variant	-	NC_000003.12:g.55480811C>G	gnomAD
rs1369701937	p.Val39Ile	missense variant	-	NC_000003.12:g.55480810C>T	TOPMed,gnomAD
rs1369701937	p.Val39Leu	missense variant	-	NC_000003.12:g.55480810C>G	TOPMed,gnomAD
rs765217843	p.Ile41Thr	missense variant	-	NC_000003.12:g.55480803A>G	ExAC,TOPMed,gnomAD
rs1411528153	p.Ile41Met	missense variant	-	NC_000003.12:g.55480802A>C	gnomAD
COSM1424715	p.Ala43Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55480797G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala43Thr	missense variant	-	NC_000003.12:g.55480798C>T	NCI-TCGA
rs186124369	p.Asn44Lys	missense variant	-	NC_000003.12:g.55480793A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs186124369	p.Asn44Lys	missense variant	-	NC_000003.12:g.55480793A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1025253935	p.Asn44Ser	missense variant	-	NC_000003.12:g.55480794T>C	TOPMed,gnomAD
rs1025253935	p.Asn44Ile	missense variant	-	NC_000003.12:g.55480794T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser45Tyr	missense variant	-	NC_000003.12:g.55480791G>T	NCI-TCGA
rs1439009595	p.Trp46Ter	stop gained	-	NC_000003.12:g.55480787C>T	TOPMed
COSM4119417	p.Ser48Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55479563A>G	NCI-TCGA Cosmic
rs369165725	p.Ser48Leu	missense variant	-	NC_000003.12:g.55479562G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu49Val	missense variant	-	NC_000003.12:g.55479560G>C	NCI-TCGA
rs1289051164	p.Met51Val	missense variant	-	NC_000003.12:g.55479554T>C	gnomAD
rs767356554	p.Asn53Lys	missense variant	-	NC_000003.12:g.55479546G>T	ExAC,gnomAD
rs761851847	p.Val55Gly	missense variant	-	NC_000003.12:g.55479541A>C	ExAC,TOPMed
rs759185001	p.Met57Thr	missense variant	-	NC_000003.12:g.55479535A>G	ExAC,gnomAD
rs1033182214	p.Val60Ile	missense variant	-	NC_000003.12:g.55479527C>T	TOPMed,gnomAD
rs763684509	p.Val60Ala	missense variant	-	NC_000003.12:g.55479526A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile62Ser	missense variant	-	NC_000003.12:g.55479520A>C	NCI-TCGA
rs1409168290	p.Ile63Met	missense variant	-	NC_000003.12:g.55479516T>C	gnomAD
rs769500757	p.Ile63Val	missense variant	-	NC_000003.12:g.55479518T>C	ExAC,gnomAD
rs745505762	p.Ala65Ser	missense variant	-	NC_000003.12:g.55479512C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln66Glu	missense variant	-	NC_000003.12:g.55479509G>C	NCI-TCGA
RCV000169741	p.Cys69Tyr	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479499C>T	ClinVar
rs786204837	p.Cys69Tyr	missense variant	-	NC_000003.12:g.55479499C>T	-
COSM731846	p.Ser70Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55479495G>T	NCI-TCGA Cosmic
rs748715879	p.Leu72Val	missense variant	-	NC_000003.12:g.55479491G>C	ExAC,gnomAD
rs1218199102	p.Gly74Arg	missense variant	-	NC_000003.12:g.55479485C>G	gnomAD
COSM1047423	p.Gln77ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.55479476_55479477GA>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly78Arg	missense variant	-	NC_000003.12:g.55479473C>T	NCI-TCGA
rs1317822537	p.Gln79Glu	missense variant	-	NC_000003.12:g.55479470G>C	gnomAD
rs373494821	p.Lys80Asn	missense variant	-	NC_000003.12:g.55479465C>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu82Met	missense variant	-	NC_000003.12:g.55479461G>T	NCI-TCGA
RCV000022696	p.Cys83Ser	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479457C>G	ClinVar
NCI-TCGA novel	p.Cys83ValPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.55479459_55479460insA	NCI-TCGA
rs786200925	p.Cys83Ser	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55479457C>G	UniProt,dbSNP
VAR_066623	p.Cys83Ser	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55479457C>G	UniProt
rs786200925	p.Cys83Ser	missense variant	-	NC_000003.12:g.55479457C>G	-
rs749398374	p.His84Leu	missense variant	-	NC_000003.12:g.55479454T>A	ExAC,TOPMed,gnomAD
rs1304024029	p.Leu85Phe	missense variant	-	NC_000003.12:g.55479450C>A	gnomAD
rs786204836	p.Tyr86Cys	missense variant	-	NC_000003.12:g.55479448T>C	-
RCV000169740	p.Tyr86Cys	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479448T>C	ClinVar
NCI-TCGA novel	p.Tyr86Asp	missense variant	-	NC_000003.12:g.55479449A>C	NCI-TCGA
rs780270891	p.Gln87Ter	stop gained	-	NC_000003.12:g.55479446G>A	ExAC,TOPMed,gnomAD
rs780270891	p.Gln87Glu	missense variant	-	NC_000003.12:g.55479446G>C	ExAC,TOPMed,gnomAD
rs1214041901	p.Met90Val	missense variant	-	NC_000003.12:g.55479437T>C	TOPMed
rs750646727	p.Ile93Val	missense variant	-	NC_000003.12:g.55479428T>C	ExAC,TOPMed,gnomAD
rs1358232825	p.Gly96Val	missense variant	-	NC_000003.12:g.55479418C>A	gnomAD
rs763870268	p.Ala97Thr	missense variant	-	NC_000003.12:g.55479416C>T	ExAC,gnomAD
rs1194784391	p.Lys98Asn	missense variant	-	NC_000003.12:g.55479411C>A	gnomAD
rs538890462	p.Thr99Ile	missense variant	-	NC_000003.12:g.55479409G>A	ExAC,gnomAD
rs527941562	p.Gly100Asp	missense variant	-	NC_000003.12:g.55479406C>T	1000Genomes,ExAC,gnomAD
rs375233428	p.Lys102Arg	missense variant	-	NC_000003.12:g.55479400T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM286544	p.Lys102Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55479399T>G	NCI-TCGA Cosmic
rs751543743	p.Gln105Arg	missense variant	-	NC_000003.12:g.55479391T>C	ExAC,gnomAD
rs751543743	p.Gln105Leu	missense variant	-	NC_000003.12:g.55479391T>A	ExAC,gnomAD
rs371892633	p.Arg109Gln	missense variant	-	NC_000003.12:g.55479379C>T	ESP,ExAC,TOPMed,gnomAD
rs1280851148	p.His110Leu	missense variant	-	NC_000003.12:g.55479376T>A	gnomAD
rs1349752707	p.His110Tyr	missense variant	-	NC_000003.12:g.55479377G>A	gnomAD
NCI-TCGA novel	p.Arg111Gln	missense variant	-	NC_000003.12:g.55479373C>T	NCI-TCGA
COSM4119414	p.Trp113Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55479368A>G	NCI-TCGA Cosmic
rs1157131307	p.Cys115Gly	missense variant	-	NC_000003.12:g.55479362A>C	TOPMed
NCI-TCGA novel	p.Ser116Asn	missense variant	-	NC_000003.12:g.55479358C>T	NCI-TCGA
rs774776699	p.Asp119Asn	missense variant	-	NC_000003.12:g.55479350C>T	ExAC,TOPMed,gnomAD
rs769103194	p.Asn120Lys	missense variant	-	NC_000003.12:g.55479345G>T	ExAC,TOPMed,gnomAD
rs1026265548	p.Thr121Ile	missense variant	-	NC_000003.12:g.55479343G>A	TOPMed
rs749783441	p.Ser122Pro	missense variant	-	NC_000003.12:g.55479341A>G	ExAC,gnomAD
rs780324252	p.Val123Ile	missense variant	-	NC_000003.12:g.55479338C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val123Ala	missense variant	-	NC_000003.12:g.55479337A>G	NCI-TCGA
rs1377642864	p.Met128Thr	missense variant	-	NC_000003.12:g.55479322A>G	gnomAD
rs769955372	p.Gln129Leu	missense variant	-	NC_000003.12:g.55479319T>A	ExAC
rs1399911942	p.Gln129His	missense variant	-	NC_000003.12:g.55479318C>G	TOPMed
rs1300391603	p.Arg133Leu	missense variant	-	NC_000003.12:g.55474623C>A	TOPMed,gnomAD
rs1300391603	p.Arg133His	missense variant	-	NC_000003.12:g.55474623C>T	TOPMed,gnomAD
rs550768554	p.Thr135Met	missense variant	-	NC_000003.12:g.55474617G>A	1000Genomes,gnomAD
rs550768554	p.Thr135Lys	missense variant	-	NC_000003.12:g.55474617G>T	1000Genomes,gnomAD
rs774630162	p.Thr135Ser	missense variant	-	NC_000003.12:g.55474618T>A	ExAC,TOPMed
rs1162882250	p.Thr138Ile	missense variant	-	NC_000003.12:g.55474608G>A	gnomAD
rs1180776171	p.Ala140Thr	missense variant	-	NC_000003.12:g.55474603C>T	gnomAD
rs1435836716	p.Ala140Glu	missense variant	-	NC_000003.12:g.55474602G>T	gnomAD
rs1439785154	p.Val141Leu	missense variant	-	NC_000003.12:g.55474600C>A	TOPMed
rs998033323	p.Ala143Ser	missense variant	-	NC_000003.12:g.55474594C>A	TOPMed,gnomAD
rs998033323	p.Ala143Thr	missense variant	-	NC_000003.12:g.55474594C>T	TOPMed,gnomAD
rs1326363656	p.Gly145Val	missense variant	-	NC_000003.12:g.55474587C>A	gnomAD
NCI-TCGA novel	p.Asn148Tyr	missense variant	-	NC_000003.12:g.55474579T>A	NCI-TCGA
rs1335027961	p.Ala149Thr	missense variant	-	NC_000003.12:g.55474576C>T	gnomAD
rs1335027961	p.Ala149Ser	missense variant	-	NC_000003.12:g.55474576C>A	gnomAD
rs750679240	p.Met150Leu	missense variant	-	NC_000003.12:g.55474573T>A	ExAC,TOPMed,gnomAD
rs750679240	p.Met150Val	missense variant	-	NC_000003.12:g.55474573T>C	ExAC,TOPMed,gnomAD
rs1168292086	p.Met150Ile	missense variant	-	NC_000003.12:g.55474571C>G	TOPMed
rs1236488118	p.Arg152Trp	missense variant	-	NC_000003.12:g.55474567G>A	gnomAD
rs1309688159	p.Ala153Val	missense variant	-	NC_000003.12:g.55474563G>A	gnomAD
rs934590152	p.Arg155His	missense variant	-	NC_000003.12:g.55474557C>T	gnomAD
rs1052997621	p.Arg155Gly	missense variant	-	NC_000003.12:g.55474558G>C	TOPMed,gnomAD
rs1052997621	p.Arg155Cys	missense variant	-	NC_000003.12:g.55474558G>A	TOPMed,gnomAD
rs1403387925	p.Glu156Gln	missense variant	-	NC_000003.12:g.55474555C>G	TOPMed
rs1395367007	p.Glu158Asp	missense variant	-	NC_000003.12:g.55474547C>A	gnomAD
RCV000577882	p.Ser160Cys	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474542G>C	ClinVar
rs1553677971	p.Ser160Cys	missense variant	-	NC_000003.12:g.55474542G>C	-
rs776770401	p.Thr161Asn	missense variant	-	NC_000003.12:g.55474539G>T	ExAC,TOPMed,gnomAD
RCV000147988	p.Gly163Arg	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474534C>G	ClinVar
rs587784562	p.Gly163Arg	missense variant	-	NC_000003.12:g.55474534C>G	-
RCV000733923	p.Arg166Cys	missense variant	-	NC_000003.12:g.55474525G>A	ClinVar
rs747232175	p.Arg166His	missense variant	-	NC_000003.12:g.55474524C>T	ExAC,gnomAD
rs1182266890	p.Ala167Thr	missense variant	-	NC_000003.12:g.55474522C>T	gnomAD
rs572796263	p.Ala168Ser	missense variant	-	NC_000003.12:g.55474519C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs778761167	p.Ala168Gly	missense variant	-	NC_000003.12:g.55474518G>C	ExAC,TOPMed,gnomAD
rs778761167	p.Ala168Val	missense variant	-	NC_000003.12:g.55474518G>A	ExAC,TOPMed,gnomAD
rs572796263	p.Ala168Thr	missense variant	-	NC_000003.12:g.55474519C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754486525	p.Arg169Cys	missense variant	-	NC_000003.12:g.55474516G>A	ExAC,gnomAD
rs1352397840	p.Lys171Glu	missense variant	-	NC_000003.12:g.55474510T>C	gnomAD
rs753406752	p.Pro174Gln	missense variant	-	NC_000003.12:g.55474500G>T	ExAC,TOPMed,gnomAD
rs1241355638	p.Pro174Ser	missense variant	-	NC_000003.12:g.55474501G>A	gnomAD
rs755766054	p.Arg175Leu	missense variant	-	NC_000003.12:g.55474497C>A	ExAC,gnomAD
rs1231823028	p.Trp177Ser	missense variant	-	NC_000003.12:g.55474491C>G	TOPMed
rs1272834770	p.Leu178Pro	missense variant	-	NC_000003.12:g.55474488A>G	TOPMed
rs765913129	p.Gly181Ser	missense variant	-	NC_000003.12:g.55474480C>T	ExAC,gnomAD
RCV000192022	p.Cys182Ser	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474476C>G	ClinVar
RCV000022695	p.Cys182Arg	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474477A>G	ClinVar
rs869312850	p.Cys182Ser	missense variant	-	NC_000003.12:g.55474476C>G	-
rs387906663	p.Cys182Arg	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55474477A>G	UniProt,dbSNP
VAR_066629	p.Cys182Arg	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55474477A>G	UniProt
rs387906663	p.Cys182Arg	missense variant	-	NC_000003.12:g.55474477A>G	-
rs1393089710	p.Gly183Ser	missense variant	-	NC_000003.12:g.55474474C>T	TOPMed,gnomAD
COSM1424712	p.Asp184Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55474471C>T	NCI-TCGA Cosmic
rs771010789	p.Asn185Ser	missense variant	-	NC_000003.12:g.55474467T>C	ExAC,TOPMed,gnomAD
rs747226594	p.Asp187Gly	missense variant	-	NC_000003.12:g.55474461T>C	ExAC,gnomAD
rs1454706587	p.Asp187Asn	missense variant	-	NC_000003.12:g.55474462C>T	TOPMed,gnomAD
rs1454706587	p.Asp187Tyr	missense variant	-	NC_000003.12:g.55474462C>A	TOPMed,gnomAD
rs200263219	p.Tyr190Ter	stop gained	-	NC_000003.12:g.55474451G>T	ExAC,gnomAD
rs771864079	p.Arg191Pro	missense variant	-	NC_000003.12:g.55474449C>G	ExAC,TOPMed,gnomAD
rs1448321572	p.Arg191Cys	missense variant	-	NC_000003.12:g.55474450G>A	TOPMed,gnomAD
rs771864079	p.Arg191His	missense variant	-	NC_000003.12:g.55474449C>T	ExAC,TOPMed,gnomAD
rs747867665	p.Ala193Thr	missense variant	-	NC_000003.12:g.55474444C>T	ExAC,gnomAD
rs1347583578	p.Ala193Val	missense variant	-	NC_000003.12:g.55474443G>A	gnomAD
rs754960119	p.Lys194Gln	missense variant	-	NC_000003.12:g.55474441T>G	ExAC,gnomAD
rs754960119	p.Lys194Glu	missense variant	-	NC_000003.12:g.55474441T>C	ExAC,gnomAD
rs181787192	p.Ala199Pro	missense variant	-	NC_000003.12:g.55474426C>G	1000Genomes,TOPMed,gnomAD
rs181787192	p.Ala199Thr	missense variant	-	NC_000003.12:g.55474426C>T	1000Genomes,TOPMed,gnomAD
rs750057475	p.Arg200His	missense variant	-	NC_000003.12:g.55474422C>T	ExAC,gnomAD
rs750057475	p.Arg200Leu	missense variant	-	NC_000003.12:g.55474422C>A	ExAC,gnomAD
rs988058834	p.Arg200Gly	missense variant	-	NC_000003.12:g.55474423G>C	TOPMed
COSM4741425	p.Arg202Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55474417G>A	NCI-TCGA Cosmic
rs1414414180	p.Glu203Gln	missense variant	-	NC_000003.12:g.55474414C>G	gnomAD
rs866738848	p.Arg204His	missense variant	-	NC_000003.12:g.55474410C>T	gnomAD
rs753171819	p.Ile205Thr	missense variant	-	NC_000003.12:g.55474407A>G	ExAC,TOPMed,gnomAD
rs760160092	p.Ala207Ser	missense variant	-	NC_000003.12:g.55474402C>A	ExAC,TOPMed,gnomAD
rs777155530	p.Lys208Glu	missense variant	-	NC_000003.12:g.55474399T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser210Phe	missense variant	-	NC_000003.12:g.55474392G>A	NCI-TCGA
rs1484487400	p.Glu212Gly	missense variant	-	NC_000003.12:g.55474386T>C	gnomAD
rs766388444	p.Glu212Lys	missense variant	-	NC_000003.12:g.55474387C>T	ExAC,TOPMed,gnomAD
rs760747132	p.Glu212Asp	missense variant	-	NC_000003.12:g.55474385C>G	ExAC,TOPMed,gnomAD
rs1293009430	p.Ala214Thr	missense variant	-	NC_000003.12:g.55474381C>T	TOPMed
rs773308486	p.Ala214Gly	missense variant	-	NC_000003.12:g.55474380G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg215Cys	missense variant	-	NC_000003.12:g.55474378G>A	NCI-TCGA
rs1272969340	p.Arg215His	missense variant	-	NC_000003.12:g.55474377C>T	gnomAD
rs1213352508	p.Ile216Met	missense variant	-	NC_000003.12:g.55474373G>C	gnomAD
rs1341494143	p.Leu217Phe	missense variant	-	NC_000003.12:g.55474372G>A	gnomAD
rs963662325	p.Met218Ile	missense variant	-	NC_000003.12:g.55474367C>G	TOPMed
rs1232898551	p.Met218Val	missense variant	-	NC_000003.12:g.55474369T>C	gnomAD
rs1448534007	p.Asn222Ser	missense variant	-	NC_000003.12:g.55474356T>C	gnomAD
rs762002827	p.Asn223Lys	missense variant	-	NC_000003.12:g.55474352G>C	ExAC,TOPMed,gnomAD
COSM1471641	p.Gly226Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55474344C>T	NCI-TCGA Cosmic
COSM1424710	p.Arg227His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55474341C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg228Lys	missense variant	-	NC_000003.12:g.55474338C>T	NCI-TCGA
RCV000385244	p.Thr229Ala	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55470550T>C	ClinVar
rs886058744	p.Thr229Ala	missense variant	-	NC_000003.12:g.55470550T>C	gnomAD
rs769829279	p.Thr229Met	missense variant	-	NC_000003.12:g.55470549G>A	ExAC,TOPMed,gnomAD
rs770524527	p.Tyr231His	missense variant	-	NC_000003.12:g.55470544A>G	ExAC,gnomAD
rs376640377	p.Tyr231Cys	missense variant	-	NC_000003.12:g.55470543T>C	ESP,ExAC,TOPMed,gnomAD
rs777506252	p.Asn232Ser	missense variant	-	NC_000003.12:g.55470540T>C	ExAC,TOPMed,gnomAD
rs755298105	p.Ala234Gly	missense variant	-	NC_000003.12:g.55470534G>C	ExAC,gnomAD
rs1302532308	p.Lys239Arg	missense variant	-	NC_000003.12:g.55470519T>C	gnomAD
rs181181287	p.His241Arg	missense variant	-	NC_000003.12:g.55470513T>C	1000Genomes
rs780265576	p.Ser248Gly	missense variant	-	NC_000003.12:g.55470493T>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp253Leu	missense variant	-	NC_000003.12:g.55470477C>A	NCI-TCGA
rs761827056	p.Gln255Glu	missense variant	-	NC_000003.12:g.55470472G>C	ExAC,gnomAD
rs1269552696	p.Phe259Leu	missense variant	-	NC_000003.12:g.55470460A>G	gnomAD
rs201567461	p.Arg260Cys	missense variant	-	NC_000003.12:g.55470457G>A	ExAC,gnomAD
rs1485651707	p.Arg260Leu	missense variant	-	NC_000003.12:g.55470456C>A	gnomAD
RCV000733943	p.Arg260Leu	missense variant	-	NC_000003.12:g.55470456C>A	ClinVar
rs1354084512	p.Ala265Thr	missense variant	-	NC_000003.12:g.55470442C>T	gnomAD
rs373379669	p.Ala265Val	missense variant	-	NC_000003.12:g.55470441G>A	ESP,ExAC,TOPMed,gnomAD
rs1350037873	p.Glu268Gln	missense variant	-	NC_000003.12:g.55470433C>G	gnomAD
NCI-TCGA novel	p.Lys269Thr	missense variant	-	NC_000003.12:g.55470429T>G	NCI-TCGA
rs1359294973	p.Asp271Asn	missense variant	-	NC_000003.12:g.55470424C>T	gnomAD
rs770577961	p.Asp271Gly	missense variant	-	NC_000003.12:g.55470423T>C	ExAC,gnomAD
rs377043203	p.Ser272Arg	missense variant	-	NC_000003.12:g.55470419G>T	ESP,ExAC,TOPMed,gnomAD
rs771812000	p.Ala273Val	missense variant	-	NC_000003.12:g.55470417G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala273Thr	missense variant	-	NC_000003.12:g.55470418C>T	NCI-TCGA
NCI-TCGA novel	p.Ala274Val	missense variant	-	NC_000003.12:g.55470414G>A	NCI-TCGA
rs746392030	p.Ala275Val	missense variant	-	NC_000003.12:g.55470411G>A	ExAC,gnomAD
rs546706293	p.Ala275Thr	missense variant	-	NC_000003.12:g.55470412C>T	1000Genomes,ExAC,gnomAD
rs1182422577	p.Met276Leu	missense variant	-	NC_000003.12:g.55470409T>A	gnomAD
rs866667950	p.Arg277Trp	missense variant	-	NC_000003.12:g.55470406G>A	gnomAD
rs369954366	p.Arg277Gln	missense variant	-	NC_000003.12:g.55470405C>T	ESP,TOPMed
rs1488780337	p.Asn279Ser	missense variant	-	NC_000003.12:g.55470399T>C	gnomAD
RCV000381699	p.Ser280Asn	missense variant	-	NC_000003.12:g.55470396C>T	ClinVar
rs886042717	p.Ser280Asn	missense variant	-	NC_000003.12:g.55470396C>T	-
rs751696945	p.Arg281Gln	missense variant	-	NC_000003.12:g.55470393C>T	ExAC,gnomAD
rs533153165	p.Arg281Trp	missense variant	-	NC_000003.12:g.55470394G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1484178482	p.Gly282Val	missense variant	-	NC_000003.12:g.55470390C>A	TOPMed,gnomAD
rs1256476123	p.Lys283Arg	missense variant	-	NC_000003.12:g.55470387T>C	gnomAD
rs375403509	p.Leu284Val	missense variant	-	NC_000003.12:g.55470385A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1305199053	p.Val285Ile	missense variant	-	NC_000003.12:g.55470382C>T	gnomAD
rs758690185	p.Gln286Arg	missense variant	-	NC_000003.12:g.55470378T>C	ExAC
COSM6165340	p.Gln286His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470377C>A	NCI-TCGA Cosmic
rs1297105774	p.Val287Leu	missense variant	-	NC_000003.12:g.55470376C>G	gnomAD
rs1354491206	p.Ser289Asn	missense variant	-	NC_000003.12:g.55470369C>T	gnomAD
rs765101926	p.Arg290Leu	missense variant	-	NC_000003.12:g.55470366C>A	ExAC,gnomAD
rs765101926	p.Arg290His	missense variant	-	NC_000003.12:g.55470366C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg290Cys	missense variant	-	NC_000003.12:g.55470367G>A	NCI-TCGA
rs1413364471	p.Asn292His	missense variant	-	NC_000003.12:g.55470361T>G	gnomAD
rs1404834929	p.Asn292Ser	missense variant	-	NC_000003.12:g.55470360T>C	gnomAD
rs759194223	p.Ser293Leu	missense variant	-	NC_000003.12:g.55470357G>A	ExAC,TOPMed,gnomAD
rs1277424205	p.Thr295Ile	missense variant	-	NC_000003.12:g.55470351G>A	TOPMed
rs760675240	p.Thr296Ile	missense variant	-	NC_000003.12:g.55470348G>A	ExAC,gnomAD
rs772896188	p.Gln297Glu	missense variant	-	NC_000003.12:g.55470346G>C	ExAC,gnomAD
rs772896188	p.Gln297Ter	stop gained	-	NC_000003.12:g.55470346G>A	ExAC,gnomAD
rs771445451	p.Asp298Asn	missense variant	-	NC_000003.12:g.55470343C>T	ExAC,TOPMed,gnomAD
rs747860258	p.Val300Phe	missense variant	-	NC_000003.12:g.55470337C>A	ExAC
rs773819361	p.Tyr301Phe	missense variant	-	NC_000003.12:g.55470333T>A	ExAC,gnomAD
rs770199302	p.Ile302Val	missense variant	-	NC_000003.12:g.55470331T>C	ExAC,gnomAD
rs781527130	p.Asp303Asn	missense variant	-	NC_000003.12:g.55470328C>T	ExAC,TOPMed,gnomAD
rs781527130	p.Asp303His	missense variant	-	NC_000003.12:g.55470328C>G	ExAC,TOPMed,gnomAD
rs757813200	p.Pro304His	missense variant	-	NC_000003.12:g.55470324G>T	ExAC,gnomAD
rs757813200	p.Pro304Leu	missense variant	-	NC_000003.12:g.55470324G>A	ExAC,gnomAD
rs747485846	p.Cys309Gly	missense variant	-	NC_000003.12:g.55470310A>C	ExAC,TOPMed,gnomAD
rs747485846	p.Cys309Arg	missense variant	-	NC_000003.12:g.55470310A>G	ExAC,TOPMed,gnomAD
COSM1047421	p.Cys309Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470308G>C	NCI-TCGA Cosmic
COSM192113	p.Val310Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470307C>T	NCI-TCGA Cosmic
rs758357805	p.Val310Ala	missense variant	-	NC_000003.12:g.55470306A>G	ExAC,TOPMed,gnomAD
rs777938109	p.Val310Leu	missense variant	-	NC_000003.12:g.55470307C>G	ExAC,gnomAD
rs752974227	p.Arg311Leu	missense variant	-	NC_000003.12:g.55470303C>A	ExAC,TOPMed,gnomAD
COSM1047420	p.Arg311His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470303C>T	NCI-TCGA Cosmic
rs1189964563	p.Arg311Cys	missense variant	-	NC_000003.12:g.55470304G>A	TOPMed
rs752974227	p.Arg311Pro	missense variant	-	NC_000003.12:g.55470303C>G	ExAC,TOPMed,gnomAD
rs1469870275	p.Asn312Ser	missense variant	-	NC_000003.12:g.55470300T>C	TOPMed
rs369701725	p.Glu313Lys	missense variant	-	NC_000003.12:g.55470298C>T	ESP,ExAC,TOPMed,gnomAD
rs931674113	p.Thr315Asn	missense variant	-	NC_000003.12:g.55470291G>T	TOPMed
COSM2781238	p.Gly316Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470289C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly316Asp	missense variant	-	NC_000003.12:g.55470288C>T	NCI-TCGA
rs755247138	p.Ser317Leu	missense variant	-	NC_000003.12:g.55470285G>A	ExAC,gnomAD
COSM1424709	p.Gly319Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470279C>T	NCI-TCGA Cosmic
rs922958622	p.Thr320Met	missense variant	-	NC_000003.12:g.55470276G>A	TOPMed
rs946840827	p.Gln321Arg	missense variant	-	NC_000003.12:g.55470273T>C	TOPMed,gnomAD
rs1368827765	p.Asn326Ser	missense variant	-	NC_000003.12:g.55470258T>C	TOPMed,gnomAD
rs373282952	p.Asn326Asp	missense variant	-	NC_000003.12:g.55470259T>C	ESP,ExAC,gnomAD
rs750281702	p.Lys327Arg	missense variant	-	NC_000003.12:g.55470255T>C	ExAC,gnomAD
RCV000289666	p.Thr328Met	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55470252G>A	ClinVar
rs767068436	p.Thr328Ala	missense variant	-	NC_000003.12:g.55470253T>C	ExAC,gnomAD
rs201975128	p.Thr328Met	missense variant	-	NC_000003.12:g.55470252G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs375700896	p.Ser329Leu	missense variant	-	NC_000003.12:g.55470249G>A	ESP,ExAC,gnomAD
rs1263066189	p.Ser329Thr	missense variant	-	NC_000003.12:g.55470250A>T	TOPMed
NCI-TCGA novel	p.Gly331Asp	missense variant	-	NC_000003.12:g.55470243C>T	NCI-TCGA
rs768254997	p.Met332Val	missense variant	-	NC_000003.12:g.55470241T>C	ExAC,gnomAD
rs768254997	p.Met332Leu	missense variant	-	NC_000003.12:g.55470241T>G	ExAC,gnomAD
COSM4119411	p.Gly334Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470234C>T	NCI-TCGA Cosmic
rs1356686397	p.Gly334Cys	missense variant	-	NC_000003.12:g.55470235C>A	gnomAD
rs542775163	p.Glu336Lys	missense variant	-	NC_000003.12:g.55470229C>T	1000Genomes,ExAC,gnomAD
rs771248572	p.Glu336Gly	missense variant	-	NC_000003.12:g.55470228T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly341Cys	missense variant	-	NC_000003.12:g.55470214C>A	NCI-TCGA
rs1370251695	p.Gly341Ser	missense variant	-	NC_000003.12:g.55470214C>T	gnomAD
rs747534689	p.Arg342Gly	missense variant	-	NC_000003.12:g.55470211G>C	ExAC,gnomAD
rs1407280678	p.Asp345His	missense variant	-	NC_000003.12:g.55470202C>G	TOPMed,gnomAD
COSM3916474	p.Asp345Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470202C>T	NCI-TCGA Cosmic
rs573691468	p.Gln346Lys	missense variant	-	NC_000003.12:g.55470199G>T	1000Genomes,ExAC,gnomAD
rs1182836998	p.Phe347Leu	missense variant	-	NC_000003.12:g.55470194G>T	TOPMed
rs779036055	p.Val350Met	missense variant	-	NC_000003.12:g.55470187C>T	ExAC,TOPMed,gnomAD
RCV000434129	p.Gln351Leu	missense variant	-	NC_000003.12:g.55470183T>A	ClinVar
rs1057524412	p.Gln351Arg	missense variant	-	NC_000003.12:g.55470183T>C	gnomAD
rs1057524412	p.Gln351Leu	missense variant	-	NC_000003.12:g.55470183T>A	gnomAD
rs755298573	p.Thr352Met	missense variant	-	NC_000003.12:g.55470180G>A	ExAC,TOPMed,gnomAD
rs1467578208	p.His356Tyr	missense variant	-	NC_000003.12:g.55470169G>A	TOPMed
rs780019128	p.Lys358Met	missense variant	-	NC_000003.12:g.55470162T>A	ExAC,TOPMed,gnomAD
rs780019128	p.Lys358Arg	missense variant	-	NC_000003.12:g.55470162T>C	ExAC,TOPMed,gnomAD
COSM1047419	p.Cys362Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470151A>G	NCI-TCGA Cosmic
rs1260562227	p.Tyr364Cys	missense variant	-	NC_000003.12:g.55470144T>C	gnomAD
rs1410287718	p.Val365Ile	missense variant	-	NC_000003.12:g.55470142C>T	TOPMed
COSM420340	p.Val365Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470142C>G	NCI-TCGA Cosmic
rs553825428	p.Lys366Gln	missense variant	-	NC_000003.12:g.55470139T>G	1000Genomes,ExAC,gnomAD
rs767422181	p.Cys370Arg	missense variant	-	NC_000003.12:g.55470127A>G	ExAC,gnomAD
rs761800959	p.Thr371Ala	missense variant	-	NC_000003.12:g.55470124T>C	ExAC,TOPMed,gnomAD
rs984934479	p.Thr371Met	missense variant	-	NC_000003.12:g.55470123G>A	TOPMed,gnomAD
rs762481849	p.Glu372Asp	missense variant	-	NC_000003.12:g.55470119C>G	gnomAD
rs1346821075	p.Val374Met	missense variant	-	NC_000003.12:g.55470115C>T	TOPMed
rs763566950	p.Asp375Asn	missense variant	-	NC_000003.12:g.55470112C>T	ExAC,TOPMed,gnomAD
rs1344347590	p.Gln376Arg	missense variant	-	NC_000003.12:g.55470108T>C	gnomAD
rs775072555	p.Gln376His	missense variant	-	NC_000003.12:g.55470107C>G	ExAC,TOPMed,gnomAD
rs771295790	p.Phe377Leu	missense variant	-	NC_000003.12:g.55470104A>C	ExAC,gnomAD
rs1362145507	p.Lys380Arg	missense variant	-	NC_000003.12:g.55470096T>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0000846	Agenesis	disease	BEFREE
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0002395	Alzheimer's Disease	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007124	Noninfiltrating Intraductal Carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0007621	Neoplastic Cell Transformation	phenotype	CTD_human
C0007873	Uterine Cervical Neoplasm	disease	CTD_human
C0009375	Colonic Neoplasms	group	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010417	Cryptorchidism	disease	HPO
C0013261	Duane Retraction Syndrome	disease	BEFREE
C0013336	Dwarfism	disease	HPO
C0015300	Exophthalmos	disease	HPO
C0017152	Gastritis	disease	BEFREE
C0017566	Gingival Hyperplasia	phenotype	HPO
C0017567	Gingival Hypertrophy	disease	HPO
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE;LHGDN
C0018818	Ventricular Septal Defects	group	BEFREE
C0019163	Hepatitis B	disease	LHGDN
C0019196	Hepatitis C	disease	BEFREE
C0019294	Hernia, Inguinal	phenotype	HPO
C0019322	Umbilical hernia	phenotype	HPO
C0019693	HIV Infections	group	BEFREE
C0020295	Hydronephrosis	disease	HPO
C0020437	Hypercalcemia	disease	BEFREE
C0020534	Orbital separation excessive	phenotype	HPO
C0021841	Intestinal Neoplasms	group	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023470	Myeloid Leukemia	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0023492	Leukemia, T-Cell	disease	BEFREE
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0024121	Lung Neoplasms	group	CTD_human
C0024421	Macroglossia	disease	HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE;LHGDN
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	HPO
C0025995	Micromelia	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027708	Nephroblastoma	disease	BEFREE
C0027796	Neuralgia	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028754	Obesity	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0030567	Parkinson Disease	disease	BEFREE
C0031099	Periodontitis	disease	BEFREE
C0031269	Peutz-Jeghers Syndrome	disease	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0032584	polyps	phenotype	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0033860	Psoriasis	disease	BEFREE
C0034103	Pulpitis	disease	BEFREE
C0035619	Ventricular Outflow Obstruction, Right	phenotype	HPO
C0036690	Septicemia	disease	BEFREE
C0038356	Stomach Neoplasms	group	BEFREE;LHGDN
C0040136	Thyroid Neoplasm	disease	LHGDN
C0040433	Tooth Crowding	phenotype	HPO
C0041296	Tuberculosis	disease	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0085786	Hamman-Rich syndrome	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206062	Lung Diseases, Interstitial	group	BEFREE
C0206659	Embryonal Carcinoma	disease	BEFREE
C0206692	Carcinoma, Lobular	disease	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0221365	Double ureter	disease	BEFREE
C0235752	Port-Wine Stain	disease	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0239174	Late tooth eruption	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE;CTD_human
C0243026	Sepsis	disease	BEFREE
C0265205	Robinow Syndrome	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0265610	Congenital clinodactyly	disease	HPO
C0265677	Congenital hemivertebra	disease	HPO
C0266061	Open Bite	phenotype	HPO
C0266111	Bifid tongue	disease	HPO
C0266298	Accessory kidney	phenotype	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266929	Chronic Periodontitis	disease	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0281361	Adenocarcinoma of pancreas	disease	BEFREE
C0333463	Senile Plaques	phenotype	BEFREE
C0334108	Multiple polyps	disease	BEFREE
C0346153	Breast Cancer, Familial	disease	BEFREE
C0346627	Intestinal Cancer	group	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349566	Squamous cell carcinoma of tongue	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376480	Gingival Overgrowth	phenotype	HPO
C0376544	Hematopoietic Neoplasms	group	BEFREE
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426421	Wide nose	phenotype	HPO
C0426891	Broad thumbs	phenotype	HPO
C0431478	Posteriorly rotated ear	disease	HPO
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0541764	Delayed bone age	phenotype	HPO
C0549306	Mesomelia	disease	HPO
C0553580	Ewings sarcoma	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0566899	Small labia majora	phenotype	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677898	invasive cancer	phenotype	BEFREE
C0677936	Refractory cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0684249	Carcinoma of lung	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0853879	Invasive carcinoma of breast	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1176475	Ductal Carcinoma	disease	BEFREE
C1303001	Congenital euryblepharon	disease	HPO
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1314694	Astrocytoma, low grade	disease	BEFREE
C1317785	Tooth size discrepancy	phenotype	HPO
C1332347	Atypical Ductal Breast Hyperplasia	disease	BEFREE
C1336076	Sporadic Breast Carcinoma	disease	BEFREE
C1398301	Short palate	disease	HPO
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1511789	Desmoplastic	disease	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1719672	Severe Sepsis	disease	BEFREE
C1720887	Female Urogenital Diseases	group	CTD_human
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE;CTD_human
C1834060	Short middle phalanx of the 5th finger	phenotype	HPO
C1836189	Radial deviation of finger	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1837260	Prominent forehead	phenotype	HPO
C1837404	High, narrow palate	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1843108	Short palm	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1844527	Clitoral hypoplasia	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1849295	Hypoplastic labia minora	phenotype	HPO
C1849340	Long palpebral fissure	phenotype	HPO
C1849341	Triangular mouth	phenotype	HPO
C1849343	Duplication of the distal phalanx of hand	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1853241	Flat face	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853738	Long eyelashes	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1862140	Brachydactyly type A3	disease	HPO
C1862425	Prominent globes	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1865017	Thin upper lip vermilion	phenotype	HPO
C1865038	Broad toe	phenotype	HPO
C1866134	Wide anterior fontanel	phenotype	HPO
C1866195	Downturned corners of mouth	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C1960397	Philadelphia chromosome-positive acute lymphoblastic leukemia	disease	BEFREE
C2051831	Pectus excavatum	phenotype	HPO
C2145472	Urothelial Carcinoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2673410	Small midface	phenotype	HPO
C2673670	Curly eyelashes	phenotype	HPO
C2745900	Promyelocytic leukemia	disease	BEFREE
C2750604	Median cleft lip and palate	disease	HPO
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2936349	Plaque, Amyloid	phenotype	BEFREE
C2936719	Mechanical Allodynia	phenotype	BEFREE
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3494422	Retrognathia	phenotype	HPO
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3554224	LEPTIN DEFICIENCY OR DYSFUNCTION	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C4020772	Hypoplastic palate	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021772	Bifid distal phalanx of toe	phenotype	HPO
C4023918	Short hard palate	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	BEFREE;HPO
C4048328	cervical cancer	disease	CTD_human
C4083076	Increased head circumference	phenotype	HPO
C4255098	Cleft tongue	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280304	Curvature of digit	phenotype	HPO
C4280305	Kabuki syndrome eyelids	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280617	Tooth mass arch size discrepancy	phenotype	HPO
C4280618	Inadequate arch length for tooth size	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4476522	Oral soft tissue hyperplasia	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003700	DNA-binding transcription factor activity	IMP
GO:0005109	frizzled binding	IPI
GO:0005109	frizzled binding	IBA
GO:0005109	frizzled binding	TAS
GO:0005115	receptor tyrosine kinase-like orphan receptor binding	IPI
GO:0005125	cytokine activity	IEA
GO:0005515	protein binding	IPI
GO:0005543	phospholipid binding	TAS
GO:0019904	protein domain specific binding	IEA
GO:0044212	transcription regulatory region DNA binding	IDA
GO:0048018	receptor ligand activity	IC
GO:1902379	chemoattractant activity involved in axon guidance	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000187	activation of MAPK activity	IDA
GO:0001736	establishment of planar polarity	IEA
GO:0001756	somitogenesis	IEA
GO:0001837	epithelial to mesenchymal transition	IEP
GO:0001938	positive regulation of endothelial cell proliferation	IMP
GO:0001947	heart looping	IEA
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA
GO:0002088	lens development in camera-type eye	ISS
GO:0002741	positive regulation of cytokine secretion involved in immune response	IMP
GO:0003138	primary heart field specification	IEA
GO:0003139	secondary heart field specification	IEA
GO:0003283	atrial septum development	IEA
GO:0003323	type B pancreatic cell development	IEA
GO:0003402	planar cell polarity pathway involved in axis elongation	IEA
GO:0003408	optic cup formation involved in camera-type eye development	ISS
GO:0007223	Wnt signaling pathway, calcium modulating pathway	IMP
GO:0007223	Wnt signaling pathway, calcium modulating pathway	IDA
GO:0007223	Wnt signaling pathway, calcium modulating pathway	NAS
GO:0007257	activation of JUN kinase activity	IMP
GO:0007257	activation of JUN kinase activity	IDA
GO:0007411	axon guidance	ISS
GO:0007442	hindgut morphogenesis	IEA
GO:0007494	midgut development	IEA
GO:0008584	male gonad development	IEP
GO:0008595	anterior/posterior axis specification, embryo	IEA
GO:0010033	response to organic substance	IEP
GO:0010595	positive regulation of endothelial cell migration	IMP
GO:0010628	positive regulation of gene expression	ISS
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IEA
GO:0010820	positive regulation of T cell chemotaxis	IMP
GO:0010976	positive regulation of neuron projection development	ISS
GO:0016055	Wnt signaling pathway	IDA
GO:0016055	Wnt signaling pathway	IBA
GO:0016055	Wnt signaling pathway	TAS
GO:0021891	olfactory bulb interneuron development	ISS
GO:0030182	neuron differentiation	ISS
GO:0030182	neuron differentiation	IBA
GO:0030216	keratinocyte differentiation	IEP
GO:0030324	lung development	IEA
GO:0030514	negative regulation of BMP signaling pathway	IEA
GO:0032092	positive regulation of protein binding	IEA
GO:0032148	activation of protein kinase B activity	IDA
GO:0032729	positive regulation of interferon-gamma production	IEA
GO:0032755	positive regulation of interleukin-6 production	IMP
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IEA
GO:0034613	cellular protein localization	IDA
GO:0035567	non-canonical Wnt signaling pathway	TAS
GO:0036342	post-anal tail morphogenesis	IEA
GO:0036517	chemoattraction of serotonergic neuron axon	IEA
GO:0036518	chemorepulsion of dopaminergic neuron axon	IEA
GO:0038031	non-canonical Wnt signaling pathway via JNK cascade	IEA
GO:0040037	negative regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0042060	wound healing	IDA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0043032	positive regulation of macrophage activation	IMP
GO:0043066	negative regulation of apoptotic process	IDA
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	ISS
GO:0045080	positive regulation of chemokine biosynthetic process	IMP
GO:0045165	cell fate commitment	IBA
GO:0045198	establishment of epithelial cell apical/basal polarity	IEA
GO:0045599	negative regulation of fat cell differentiation	IMP
GO:0045732	positive regulation of protein catabolic process	IGI
GO:0045745	positive regulation of G protein-coupled receptor signaling pathway	IDA
GO:0045766	positive regulation of angiogenesis	IMP
GO:0045778	positive regulation of ossification	IMP
GO:0045807	positive regulation of endocytosis	IEA
GO:0045836	positive regulation of meiotic nuclear division	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0048022	negative regulation of melanin biosynthetic process	IEA
GO:0048146	positive regulation of fibroblast proliferation	IDA
GO:0048341	paraxial mesoderm formation	IEA
GO:0048570	notochord morphogenesis	IEA
GO:0048706	embryonic skeletal system development	IMP
GO:0048806	genitalia development	IMP
GO:0048843	negative regulation of axon extension involved in axon guidance	IEA
GO:0048850	hypophysis morphogenesis	IEA
GO:0050680	negative regulation of epithelial cell proliferation	IEA
GO:0050718	positive regulation of interleukin-1 beta secretion	ISS
GO:0050718	positive regulation of interleukin-1 beta secretion	IMP
GO:0050727	regulation of inflammatory response	NAS
GO:0050729	positive regulation of inflammatory response	IMP
GO:0050807	regulation of synapse organization	IDA
GO:0050807	regulation of synapse organization	IMP
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA
GO:0051216	cartilage development	IEA
GO:0051885	positive regulation of timing of anagen	IEA
GO:0051964	negative regulation of synapse assembly	IEA
GO:0060028	convergent extension involved in axis elongation	IEA
GO:0060029	convergent extension involved in organogenesis	IEA
GO:0060065	uterus development	IEA
GO:0060067	cervix development	IEA
GO:0060068	vagina development	IEA
GO:0060070	canonical Wnt signaling pathway	IEA
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0060157	urinary bladder development	IEA
GO:0060324	face development	IMP
GO:0060340	positive regulation of type I interferon-mediated signaling pathway	IDA
GO:0060599	lateral sprouting involved in mammary gland duct morphogenesis	IEA
GO:0060638	mesenchymal-epithelial cell signaling	IEA
GO:0060686	negative regulation of prostatic bud formation	IEA
GO:0060744	mammary gland branching involved in thelarche	IEA
GO:0060750	epithelial cell proliferation involved in mammary gland duct elongation	IEA
GO:0060760	positive regulation of response to cytokine stimulus	IDA
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	IEA
GO:0060775	planar cell polarity pathway involved in gastrula mediolateral intercalation	IEA
GO:0060809	mesodermal to mesenchymal transition involved in gastrulation	IEA
GO:0060907	positive regulation of macrophage cytokine production	IMP
GO:0061024	membrane organization	TAS
GO:0061036	positive regulation of cartilage development	IEA
GO:0061347	planar cell polarity pathway involved in outflow tract morphogenesis	IEA
GO:0061348	planar cell polarity pathway involved in ventricular septum morphogenesis	IEA
GO:0061349	planar cell polarity pathway involved in cardiac right atrium morphogenesis	IEA
GO:0061350	planar cell polarity pathway involved in cardiac muscle tissue morphogenesis	IEA
GO:0061354	planar cell polarity pathway involved in pericardium morphogenesis	IEA
GO:0062009	secondary palate development	IMP
GO:0070245	positive regulation of thymocyte apoptotic process	IEA
GO:0071222	cellular response to lipopolysaccharide	IEP
GO:0071277	cellular response to calcium ion	IEP
GO:0071300	cellular response to retinoic acid	ISS
GO:0071346	cellular response to interferon-gamma	IEP
GO:0071425	hematopoietic stem cell proliferation	IDA
GO:0071560	cellular response to transforming growth factor beta stimulus	IEP
GO:0072201	negative regulation of mesenchymal cell proliferation	IDA
GO:0090009	primitive streak formation	IEA
GO:0090037	positive regulation of protein kinase C signaling	IMP
GO:0090082	positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI
GO:0090103	cochlea morphogenesis	IEA
GO:0090179	planar cell polarity pathway involved in neural tube closure	IEA
GO:0090630	activation of GTPase activity	IEA
GO:0097325	melanocyte proliferation	IEA
GO:0099054	presynapse assembly	TAS
GO:0099068	postsynapse assembly	TAS
GO:0099175	regulation of postsynapse organization	IDA
GO:0099175	regulation of postsynapse organization	IMP
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IDA
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IMP
GO:0150012	positive regulation of neuron projection arborization	ISS
GO:1900020	positive regulation of protein kinase C activity	IMP
GO:1901216	positive regulation of neuron death	ISS
GO:1902474	positive regulation of protein localization to synapse	TAS
GO:1903827	regulation of cellular protein localization	IEA
GO:1904469	positive regulation of tumor necrosis factor secretion	ISS
GO:1904861	excitatory synapse assembly	TAS
GO:1904862	inhibitory synapse assembly	TAS
GO:1904934	negative regulation of cell proliferation in midbrain	NAS
GO:1904938	planar cell polarity pathway involved in axon guidance	IEA
GO:1904953	Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	NAS
GO:1904955	planar cell polarity pathway involved in midbrain dopaminergic neuron differentiation	TAS
GO:2000049	positive regulation of cell-cell adhesion mediated by cadherin	IEA
GO:2000052	positive regulation of non-canonical Wnt signaling pathway	IEA
GO:2000484	positive regulation of interleukin-8 secretion	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0005796	Golgi lumen	TAS
GO:0005886	plasma membrane	TAS
GO:0009986	cell surface	IEA
GO:0030665	clathrin-coated vesicle membrane	TAS
GO:0030666	endocytic vesicle membrane	TAS
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS
GO:0070062	extracellular exosome	TAS
GO:0098794	postsynapse	IEA
GO:0098978	glutamatergic synapse	IDA
GO:0098978	glutamatergic synapse	IMP
GO:0062023	collagen-containing extracellular matrix	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	IEA
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-3238698	WNT ligand biogenesis and trafficking	TAS
R-HSA-3238698	WNT ligand biogenesis and trafficking	IEA
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-3772470	Negative regulation of TCF-dependent signaling by WNT ligand antagonists	IEA
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	IEA
R-HSA-4086398	Ca2+ pathway	TAS
R-HSA-4086398	Ca2+ pathway	IEA
R-HSA-4086400	PCP/CE pathway	IEA
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-4608870	Asymmetric localization of PCP proteins	TAS
R-HSA-500792	GPCR ligand binding	IEA
R-HSA-5099900	WNT5A-dependent internalization of FZD4	TAS
R-HSA-5140745	WNT5A-dependent internalization of FZD2, FZD5 and ROR2	TAS
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis	TAS
R-HSA-8856828	Clathrin-mediated endocytosis	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of WNT5A gene	30521419
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of WNT5A mRNA	28903501
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of WNT5A mRNA	28329830
C465664	2-(1-(3-dimethylaminopropyl)-5-methoxyindol-3-yl)-3-(1H-indol-3-yl)maleimide	2-(1-(3-dimethylaminopropyl)-5-methoxyindol-3-yl)-3-(1H-indol-3-yl)maleimide inhibits the reaction [WNT5A protein results in increased expression of AQP5 protein]	26833564
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of WNT5A mRNA	25614096
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl results in decreased expression of WNT5A mRNA	22262711
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of WNT5A mRNA	22262711
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of WNT5A mRNA	23196670
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in decreased expression of WNT5A mRNA	25912373
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of WNT5A mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
C496492	abrine	abrine results in decreased expression of WNT5A mRNA	31054353
D000079	Acetaldehyde	Acetaldehyde affects the expression of WNT5A mRNA	22634333
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of WNT5A mRNA	22100608; 27153756;
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of WNT5A mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of WNT5A mRNA	24449571
D001152	Arsenicals	Arsenicals affects the acetylation of WNT5A promoter	19061910
C015001	arsenite	arsenite results in increased expression of WNT5A mRNA	19061910
D001374	Azacitidine	Azacitidine results in increased expression of WNT5A mRNA	20823114
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of WNT5A mRNA	20064835; 21802500;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of WNT5A protein	21802500
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of WNT5A mRNA	22228805
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of WNT5A mRNA	25912373
C006780	bisphenol A	bisphenol A results in increased expression of WNT5A mRNA	26364221
C006780	bisphenol A	bisphenol A results in decreased expression of WNT5A mRNA	16029874; 27685785;
C006780	bisphenol A	bisphenol A affects the methylation of WNT5A promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of WNT5A mRNA	24465770
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in increased expression of WNT5A mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of WNT5A mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of WNT5A mRNA	30951980
D003994	Bucladesine	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of WNT5A mRNA	20823114
D002117	Calcitriol	Calcitriol results in increased expression of WNT5A mRNA	16002434
D002118	Calcium	Calcium results in increased expression of WNT5A mRNA	24658506
D002118	Calcium	Calcium results in increased secretion of WNT5A protein	24658506
D002118	Calcium	CASR mutant form inhibits the reaction [Calcium results in increased expression of WNT5A protein]	24658506
D002118	Calcium	WNT5A protein promotes the reaction [Calcium results in increased expression of KRT1 mRNA]	24658506
D002118	Calcium	WNT5A protein promotes the reaction [Calcium results in increased expression of KRT1 protein]	24658506
D002118	Calcium	WNT5A protein promotes the reaction [Calcium results in increased expression of LORICRIN mRNA]	24658506
D002118	Calcium	WNT5A protein promotes the reaction [Calcium results in increased expression of LORICRIN protein]	24658506
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of WNT5A gene	30521419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of WNT5A mRNA	16780995
D002330	Carmustine	WNT5A mRNA affects the susceptibility to Carmustine	16365179
C054133	casticin	casticin results in decreased expression of WNT5A mRNA	27862857
C084597	chlorcyclizine	chlorcyclizine results in increased expression of WNT5A mRNA	21058326
D007631	Chlordecone	Chlordecone results in increased expression of WNT5A mRNA	29458080
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of WNT5A mRNA	18502319
D002762	Cholecalciferol	Cholecalciferol results in increased expression of WNT5A mRNA	17170073
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of WNT5A mRNA	30690063
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of WNT5A mRNA	27392435
D002994	Clofibrate	Clofibrate results in increased expression of WNT5A mRNA	23811191
D003042	Cocaine	HDAC5 affects the reaction [Cocaine affects the expression of WNT5A mRNA]	17988634
D003300	Copper	Copper results in decreased expression of WNT5A mRNA	30556269
D000242	Cyclic AMP	WNT5A protein affects the reaction [Medroxyprogesterone Acetate results in increased abundance of Cyclic AMP]	20685861
D000242	Cyclic AMP	WNT5A protein affects the reaction [[Medroxyprogesterone Acetate results in increased abundance of Cyclic AMP] which results in increased expression of SOD2 mRNA]	20685861
D016572	Cyclosporine	Cyclosporine results in decreased expression of WNT5A mRNA	20106945; 22147139;
D016572	Cyclosporine	Cyclosporine results in increased expression of WNT5A mRNA	27989131
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of WNT5A mRNA	23914054
D000077209	Decitabine	Decitabine results in decreased expression of WNT5A mRNA	30125549
D000077209	Decitabine	Decitabine results in decreased expression of WNT5A protein	30125549
D003976	Diazinon	Diazinon affects the expression of WNT5A mRNA	18502319
D003976	Diazinon	Diazinon results in decreased expression of WNT5A mRNA	19130878
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of WNT5A mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of WNT5A mRNA	25213187
D004026	Dieldrin	Dieldrin results in decreased expression of WNT5A mRNA	19130878
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of WNT5A mRNA	15070830; 15073149;
D004054	Diethylstilbestrol	WNT5A protein affects the reaction [Diethylstilbestrol results in decreased expression of HOXA10 mRNA]	15073149
D004054	Diethylstilbestrol	WNT5A protein affects the reaction [Diethylstilbestrol results in decreased expression of HOXA11 mRNA]	15073149
D004054	Diethylstilbestrol	WNT5A protein affects the reaction [Diethylstilbestrol results in decreased expression of WNT7A mRNA]	15073149
C025605	diisobutyl phthalate	diisobutyl phthalate results in decreased expression of WNT5A mRNA	29458080
D004237	Diuron	Diuron results in increased expression of WNT5A mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of WNT5A mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of WNT5A mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in decreased expression of WNT5A mRNA	25896364
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal results in increased expression of WNT5A mRNA	23262642
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of WNT5A mRNA	22079256
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of WNT5A mRNA	22079256
D004958	Estradiol	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of WNT5A mRNA	20823114
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of WNT5A mRNA	20660070
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of WNT5A mRNA	19619570
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of WNT5A mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of WNT5A mRNA	19619570
D004958	Estradiol	Estradiol results in increased expression of WNT5A mRNA	19484750
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in increased expression of WNT5A mRNA	26496021
D004958	Estradiol	Estradiol results in increased expression of WNT5A mRNA	31119341
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of WNT5A mRNA	16551644
D017313	Fenretinide	Fenretinide results in decreased expression of WNT5A mRNA	28973697
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of WNT5A mRNA	28329830
C061365	flusilazole	flusilazole affects the expression of WNT5A mRNA	22634333
C061365	flusilazole	flusilazole results in decreased expression of WNT5A mRNA	28263823
D005492	Folic Acid	Folic Acid affects the expression of WNT5A mRNA	17320366
C056507	gemcitabine	gemcitabine results in decreased expression of WNT5A mRNA	17039268
D019833	Genistein	Genistein results in increased expression of WNT5A mRNA	21810550
D019833	Genistein	Genistein results in decreased expression of WNT5A mRNA	17341692
D005947	Glucose	Glucose results in increased expression of WNT5A mRNA	29163160
D005947	Glucose	Glucose results in decreased expression of WNT5A mRNA	18004065
D005947	Glucose	Simvastatin inhibits the reaction [Glucose results in decreased expression of WNT5A mRNA]	18004065
C010974	glyphosate	glyphosate affects the expression of WNT5A protein	28780397
C010974	glyphosate	glyphosate results in decreased expression of WNT5A mRNA	26688330
C010974	glyphosate	glyphosate results in decreased expression of WNT5A protein	26688330
C010974	glyphosate	WNT5A protein results in decreased susceptibility to glyphosate	26688330
C010176	halofuginone	halofuginone results in increased expression of WNT5A mRNA	17180598
D006220	Haloperidol	Haloperidol results in increased expression of WNT5A mRNA	29458080
D006710	Homocysteine	Homocysteine results in decreased expression of WNT5A mRNA	17320366
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of WNT5A mRNA	20044591
C031927	hydroquinone	hydroquinone results in increased expression of WNT5A mRNA	22960397
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in decreased expression of WNT5A mRNA	29522793
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of WNT5A mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of WNT5A mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of WNT5A mRNA	24796395; 25307878; 26752646;
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of WNT5A mRNA	26644586
D019344	Lactic Acid	Lactic Acid results in decreased expression of WNT5A mRNA	30851411
D008344	Maneb	[Paraquat co-treated with Maneb] results in increased expression of WNT5A mRNA	29152652
D008344	Maneb	[Paraquat co-treated with Maneb] results in increased expression of WNT5A protein	29152652
D017258	Medroxyprogesterone Acetate	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of WNT5A mRNA	20823114
D017258	Medroxyprogesterone Acetate	Medroxyprogesterone Acetate results in increased expression of WNT5A mRNA	20685861
D017258	Medroxyprogesterone Acetate	WNT5A protein affects the reaction [Medroxyprogesterone Acetate results in increased abundance of Cyclic AMP]	20685861
D017258	Medroxyprogesterone Acetate	WNT5A protein affects the reaction [[Medroxyprogesterone Acetate results in increased abundance of Cyclic AMP] which results in increased expression of SOD2 mRNA]	20685861
C042720	mercuric bromide	mercuric bromide results in increased expression of WNT5A mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
D008727	Methotrexate	Methotrexate results in increased expression of WNT5A mRNA	17320366
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of WNT5A mRNA	28001369
D008770	Methylnitrosourea	Methylnitrosourea results in increased expression of WNT5A mRNA	17341692
D015735	Mifepristone	Mifepristone results in increased expression of WNT5A mRNA	17584828
D016685	Mitomycin	WNT5A protein affects the susceptibility to Mitomycin	16217747
C000622638	MLN7243	MLN7243 results in increased sumoylation of WNT5A protein	31285264
C406082	monomethylarsonous acid	monomethylarsonous acid affects the expression of WNT5A mRNA	20886546
C406082	monomethylarsonous acid	monomethylarsonous acid results in increased expression of WNT5A mRNA	19061910; 22108045;
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of WNT5A mRNA	25554681
D009532	Nickel	Nickel results in increased expression of WNT5A mRNA	19130878
C029938	nickel sulfate	nickel sulfate results in increased expression of WNT5A mRNA	22714537
C007350	nitrofen	nitrofen results in increased expression of WNT5A mRNA	20006014
C007350	nitrofen	nitrofen results in increased expression of WNT5A protein	20006014
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine affects the methylation of WNT5A promoter	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of WNT5A mRNA	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of WNT5A mRNA	20188158
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of WNT5A mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of WNT5A mRNA	26272509
D010269	Paraquat	[Paraquat co-treated with Maneb] results in increased expression of WNT5A mRNA	29152652
D010269	Paraquat	[Paraquat co-treated with Maneb] results in increased expression of WNT5A protein	29152652
C471071	perfluorohexanesulfonic acid	perfluorohexanesulfonic acid results in decreased expression of WNT5A mRNA	22790973
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in increased expression of WNT5A mRNA	23602845
C023036	perfluorooctanoic acid	perfluorooctanoic acid affects the expression of WNT5A protein	31445018
C023036	perfluorooctanoic acid	PPARA protein affects the reaction [perfluorooctanoic acid results in increased expression of WNT5A protein]	31445018
D010634	Phenobarbital	Phenobarbital affects the expression of WNT5A mRNA	19159669
D010634	Phenobarbital	NR1I3 protein promotes the reaction [Phenobarbital results in increased expression of WNT5A mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of WNT5A mRNA	19482888
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of WNT5A mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of WNT5A mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of WNT5A mRNA	18301758
D010936	Plant Extracts	Plant Extracts results in decreased expression of WNT5A mRNA	23557933
D010936	Plant Extracts	Plant Extracts results in increased expression of WNT5A mRNA	23262642
D059808	Polyphenols	Polyphenols results in decreased expression of WNT5A mRNA	16293270
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of WNT5A mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of WNT5A mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of WNT5A mRNA	22714537
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of WNT5A mRNA	20660070
D011441	Propylthiouracil	Propylthiouracil affects the expression of WNT5A mRNA	24780913
C004532	quinone	quinone results in increased expression of WNT5A mRNA	22960397
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in decreased expression of WNT5A mRNA	19059307
D000077185	Resveratrol	Resveratrol results in decreased expression of WNT5A mRNA	25061499
D000077185	Resveratrol	Resveratrol results in decreased expression of WNT5A protein	25061499
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of WNT5A mRNA	23806026
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of WNT5A mRNA	25351596; 27095093;
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of WNT5A protein	27095093
D019821	Simvastatin	Simvastatin inhibits the reaction [Glucose results in decreased expression of WNT5A mRNA]	18004065
D019821	Simvastatin	Simvastatin results in increased expression of WNT5A mRNA	19968183
D019821	Simvastatin	Simvastatin results in increased expression of WNT5A protein	18004065
C009277	sodium arsenate	sodium arsenate results in increased expression of WNT5A mRNA	21795629
C017947	sodium arsenite	sodium arsenite results in decreased expression of WNT5A mRNA	12679051
C017947	sodium arsenite	sodium arsenite results in increased expression of WNT5A mRNA	20886546
D012999	Soman	Soman results in decreased expression of WNT5A mRNA	19281266
D053260	Soot	Soot results in decreased expression of WNT5A mRNA	26551751
D000077210	Sunitinib	Sunitinib results in decreased expression of WNT5A mRNA	31533062
D013629	Tamoxifen	[Tamoxifen co-treated with ESR2 protein] results in decreased expression of WNT5A mRNA	19059307
D000077204	Temozolomide	WNT5A mRNA affects the susceptibility to Temozolomide	16365179
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of WNT5A mRNA	19619570
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of WNT5A mRNA	20106945
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of WNT5A mRNA	19619570; 21802500; 22262711; 28011154;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of WNT5A protein	21802500
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of WNT5A mRNA	20067830
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of WNT5A mRNA	24680724
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of WNT5A mRNA	17586704; 19933214;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased secretion of WNT5A protein	26572662
C016151	tinuvin	tinuvin analog results in decreased expression of WNT5A mRNA	30315675
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of WNT5A protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of WNT5A mRNA	23349696
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of WNT5A protein	23349696
D014028	Tobacco Smoke Pollution	WNT5A protein affects the susceptibility to Tobacco Smoke Pollution	23349696
D014028	Tobacco Smoke Pollution	[APOE gene mutant form affects the susceptibility to Tobacco Smoke Pollution] which results in increased expression of WNT5A mRNA	24096154
D014212	Tretinoin	Tretinoin results in increased expression of WNT5A mRNA	21934132
D014212	Tretinoin	Tretinoin results in decreased expression of WNT5A mRNA	16604517
C011559	tributyltin	tributyltin results in decreased expression of WNT5A mRNA	28011154
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of WNT5A mRNA	24935251
C012589	trichostatin A	trichostatin A results in increased expression of WNT5A mRNA	24935251; 26272509;
D000077288	Troglitazone	Troglitazone results in increased expression of WNT5A mRNA	19140230
D014415	Tunicamycin	Tunicamycin results in decreased expression of WNT5A mRNA	29453283
D014415	Tunicamycin	Tunicamycin results in increased expression of WNT5A mRNA	17127020
C113580	U 0126	U 0126 results in increased expression of WNT5A mRNA	17320366
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of WNT5A mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of WNT5A mRNA	23179753; 24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid affects the expression of WNT5A mRNA	17292431
D014638	Vanadates	Vanadates results in increased expression of WNT5A mRNA	22714537
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of WNT5A mRNA	26682919
D014800	Vitallium	Vitallium analog results in increased expression of WNT5A mRNA	23825117
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of WNT5A mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0891	Chondrogenesis
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0242	Dwarfism
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0449	Lipoprotein
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR005817	Wnt
IPR026538	Wnt5a
IPR043158	Wnt_C
IPR018161	Wnt_CS

PROSITE

PROSITE ID	PROSITE Term
PS00246	WNT1

Pfam

Pfam ID	Pfam Term
PF00110	wnt

Gene: WNT5A

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction