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	1855
Gene name	Dishevelled segment polarity protein 1
Gene symbol	DVL1
Synonyms (NCBI Gene)	DRS2DVLDVL1L1DVL1P1
Chromosome	1
Chromosome location	1p36.33
Summary	DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1

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SNP ID	Visualize variation	Clinical significance	Consequence
rs797044833	AA>G	Pathogenic	Coding sequence variant, frameshift variant
rs797044834	CGGGTGGGGCAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs797044835	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs797044836	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs797044837	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs797044838	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs797044839	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs797044840	TAGGCAGG>C	Pathogenic	Coding sequence variant, frameshift variant
rs869025220	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518627	->CATTGGCG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553172962	C>-	Likely-pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs1553173356	ACTCCCGGTGCTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553173367	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553173368	CGGTGCTGCCGCTGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553173372	->CTGCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553173420	TGGGGCAGCGGGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553173425	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569684523	G>-	Pathogenic	Frameshift variant, coding sequence variant

126

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047691	hsa-miR-10a-5p	CLASH	23622248
MIRT043927	hsa-miR-378a-3p	CLASH	23622248
MIRT037606	hsa-miR-744-5p	CLASH	23622248
MIRT618688	hsa-miR-1470	HITS-CLIP	23824327
MIRT618687	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT618686	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT618685	hsa-miR-4469	HITS-CLIP	23824327
MIRT618684	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT645032	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT645031	hsa-miR-4641	HITS-CLIP	23824327
MIRT618683	hsa-miR-885-3p	HITS-CLIP	23824327
MIRT618682	hsa-miR-3688-5p	HITS-CLIP	23824327
MIRT618681	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT618680	hsa-miR-7155-3p	HITS-CLIP	23824327
MIRT618689	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT618688	hsa-miR-1470	HITS-CLIP	23824327
MIRT618687	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT618686	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT618685	hsa-miR-4469	HITS-CLIP	23824327
MIRT618684	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT618683	hsa-miR-885-3p	HITS-CLIP	23824327
MIRT618682	hsa-miR-3688-5p	HITS-CLIP	23824327
MIRT618681	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT618680	hsa-miR-7155-3p	HITS-CLIP	23824327
MIRT734782	hsa-miR-128-3p	qRT-PCR	32173733
MIRT735873	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ChIP-seqqRT-PCRin vivo gain/loss-of-function experiments	32641995
MIRT735873	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceChIP-seqqRT-PCR	32641995
MIRT618688	hsa-miR-1470	HITS-CLIP	23824327
MIRT618687	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT618686	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT618685	hsa-miR-4469	HITS-CLIP	23824327
MIRT618684	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT645032	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT645031	hsa-miR-4641	HITS-CLIP	23824327
MIRT618683	hsa-miR-885-3p	HITS-CLIP	23824327
MIRT618682	hsa-miR-3688-5p	HITS-CLIP	23824327
MIRT618681	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT618680	hsa-miR-7155-3p	HITS-CLIP	23824327
MIRT618689	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT618688	hsa-miR-1470	HITS-CLIP	23824327
MIRT618687	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT618686	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT618685	hsa-miR-4469	HITS-CLIP	23824327
MIRT618684	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT618683	hsa-miR-885-3p	HITS-CLIP	23824327
MIRT618682	hsa-miR-3688-5p	HITS-CLIP	23824327
MIRT618681	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT618680	hsa-miR-7155-3p	HITS-CLIP	23824327
MIRT948555	hsa-miR-101	CLIP-seq
MIRT948556	hsa-miR-1302	CLIP-seq
MIRT948557	hsa-miR-144	CLIP-seq
MIRT948558	hsa-miR-15a	CLIP-seq
MIRT948559	hsa-miR-15b	CLIP-seq
MIRT948560	hsa-miR-16	CLIP-seq
MIRT948561	hsa-miR-185	CLIP-seq
MIRT948562	hsa-miR-18a	CLIP-seq
MIRT948563	hsa-miR-18b	CLIP-seq
MIRT948564	hsa-miR-195	CLIP-seq
MIRT948565	hsa-miR-214	CLIP-seq
MIRT948566	hsa-miR-3120-3p	CLIP-seq
MIRT948567	hsa-miR-3199	CLIP-seq
MIRT948568	hsa-miR-3619-5p	CLIP-seq
MIRT948569	hsa-miR-3665	CLIP-seq
MIRT948570	hsa-miR-424	CLIP-seq
MIRT948571	hsa-miR-4298	CLIP-seq
MIRT948572	hsa-miR-4306	CLIP-seq
MIRT948573	hsa-miR-4644	CLIP-seq
MIRT948574	hsa-miR-4648	CLIP-seq
MIRT948575	hsa-miR-4688	CLIP-seq
MIRT948576	hsa-miR-4735-3p	CLIP-seq
MIRT948577	hsa-miR-486-3p	CLIP-seq
MIRT948578	hsa-miR-497	CLIP-seq
MIRT948579	hsa-miR-761	CLIP-seq
MIRT1981040	hsa-miR-1915	CLIP-seq
MIRT1981041	hsa-miR-3919	CLIP-seq
MIRT1981042	hsa-miR-4447	CLIP-seq
MIRT1981043	hsa-miR-4472	CLIP-seq
MIRT1981044	hsa-miR-4476	CLIP-seq
MIRT1981045	hsa-miR-4488	CLIP-seq
MIRT1981046	hsa-miR-4493	CLIP-seq
MIRT1981047	hsa-miR-4640-5p	CLIP-seq
MIRT1981048	hsa-miR-4645-5p	CLIP-seq
MIRT1981049	hsa-miR-4673	CLIP-seq
MIRT1981050	hsa-miR-4697-5p	CLIP-seq
MIRT1981051	hsa-miR-4726-3p	CLIP-seq
MIRT1981052	hsa-miR-4726-5p	CLIP-seq
MIRT1981053	hsa-miR-4742-5p	CLIP-seq
MIRT1981054	hsa-miR-4755-3p	CLIP-seq
MIRT1981055	hsa-miR-4786-3p	CLIP-seq
MIRT948557	hsa-miR-144	CLIP-seq
MIRT948562	hsa-miR-18a	CLIP-seq
MIRT948563	hsa-miR-18b	CLIP-seq
MIRT948566	hsa-miR-3120-3p	CLIP-seq
MIRT1981041	hsa-miR-3919	CLIP-seq
MIRT2216164	hsa-miR-3941	CLIP-seq
MIRT2216165	hsa-miR-4302	CLIP-seq
MIRT1981042	hsa-miR-4447	CLIP-seq
MIRT1981043	hsa-miR-4472	CLIP-seq
MIRT1981044	hsa-miR-4476	CLIP-seq
MIRT1981045	hsa-miR-4488	CLIP-seq
MIRT1981046	hsa-miR-4493	CLIP-seq
MIRT1981047	hsa-miR-4640-5p	CLIP-seq
MIRT2216166	hsa-miR-466	CLIP-seq
MIRT2216167	hsa-miR-4660	CLIP-seq
MIRT2216168	hsa-miR-4672	CLIP-seq
MIRT1981050	hsa-miR-4697-5p	CLIP-seq
MIRT1981052	hsa-miR-4726-5p	CLIP-seq
MIRT948576	hsa-miR-4735-3p	CLIP-seq
MIRT2216169	hsa-miR-4783-5p	CLIP-seq
MIRT1981055	hsa-miR-4786-3p	CLIP-seq
MIRT2216170	hsa-miR-646	CLIP-seq
MIRT2216171	hsa-miR-933	CLIP-seq
MIRT2387176	hsa-miR-4281	CLIP-seq
MIRT1981041	hsa-miR-3919	CLIP-seq
MIRT2216165	hsa-miR-4302	CLIP-seq
MIRT1981042	hsa-miR-4447	CLIP-seq
MIRT1981043	hsa-miR-4472	CLIP-seq
MIRT1981044	hsa-miR-4476	CLIP-seq
MIRT1981045	hsa-miR-4488	CLIP-seq
MIRT1981046	hsa-miR-4493	CLIP-seq
MIRT1981047	hsa-miR-4640-5p	CLIP-seq
MIRT1981050	hsa-miR-4697-5p	CLIP-seq
MIRT1981052	hsa-miR-4726-5p	CLIP-seq
MIRT2216169	hsa-miR-4783-5p	CLIP-seq
MIRT1981055	hsa-miR-4786-3p	CLIP-seq
MIRT2216171	hsa-miR-933	CLIP-seq

101

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005109	Function	Frizzled binding	IPI	19388021
GO:0005109	Function	Frizzled binding	TAS	25424568
GO:0005515	Function	Protein binding	IPI	10330181, 10644691, 11113207, 11425858, 11742073, 12556519, 14750955, 19465938, 19625296, 19643732, 20177058, 20224554, 20412773, 20439735, 22773187, 25557784, 26126266, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	11742073
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007269	Process	Neurotransmitter secretion	ISS
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007528	Process	Neuromuscular junction development	ISS
GO:0008013	Function	Beta-catenin binding	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	20177058
GO:0019899	Function	Enzyme binding	IPI	15454084, 19643732
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	19643732
GO:0021915	Process	Neural tube development	IEP	8817329
GO:0022007	Process	Convergent extension involved in neural plate elongation	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IDA	19625296
GO:0030426	Component	Growth cone	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	11113207
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	20177058
GO:0032880	Process	Regulation of protein localization	IDA	19625296
GO:0034504	Process	Protein localization to nucleus	IMP	10330181
GO:0035176	Process	Social behavior	IEA
GO:0035372	Process	Protein localization to microtubule	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035567	Process	Non-canonical Wnt signaling pathway	TAS	25424568
GO:0042802	Function	Identical protein binding	IPI	10330181
GO:0043005	Component	Neuron projection	IDA	19625296
GO:0043025	Component	Neuronal cell body	IEA
GO:0043113	Process	Receptor clustering	IEA
GO:0043113	Process	Receptor clustering	ISS
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12805222, 17593335
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048668	Process	Collateral sprouting	IEA
GO:0048675	Process	Axon extension	IEA
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0048813	Process	Dendrite morphogenesis	ISS
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0050821	Process	Protein stabilization	IDA	19625296
GO:0050821	Process	Protein stabilization	IEA
GO:0060029	Process	Convergent extension involved in organogenesis	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	11113207, 12556519, 14747478, 17593335
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IGI	12556519, 18093802
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	25424568
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IDA	12805222
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0060134	Process	Prepulse inhibition	IEA
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098992	Component	Neuronal dense core vesicle	IEA
GO:0099054	Process	Presynapse assembly	IEA
GO:0099054	Process	Presynapse assembly	TAS	24449494
GO:0099173	Process	Postsynapse organization	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0150012	Process	Positive regulation of neuron projection arborization	IEA
GO:0150012	Process	Positive regulation of neuron projection arborization	ISS
GO:1905386	Process	Positive regulation of protein localization to presynapse	TAS	24449494
GO:1990909	Component	Wnt signalosome	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA

MIM	HGNC	e!Ensembl
601365	3084	ENSG00000107404

O14640

Protein name

Segment polarity protein dishevelled homolog DVL-1 (Dishevelled-1) (DSH homolog 1)

Protein function

Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal

PDB

6LCA , 6LCB , 6TTK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00778	DIX	2 → 83	DIX domain	Family
PF02377	Dishevelled	90 → 247	Dishevelled specific domain	Family
PF00595	PDZ	251 → 336	PDZ domain	Domain
PF00610	DEP	428 → 497	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain
PF12316	Dsh_C	503 → 685	Segment polarity protein dishevelled (Dsh) C terminal	Family

Sequence

MAETKIIYHMDEEETPYLVKLPVAPERVTLADFKNVLSNRPVHAYKFFFKSMDQDFGVVK
EEIFDDNAKLPCFNGRVVSWLVLAEGAHSDAGSQGTDSHTDLPPPLERTGGIGDSRPPSF
HPNVASSRDGMDNETGTESMVSHRRERARRRNREEAARTNGHPRGDRRRDVGLPPDSAST
ALSSELESSSFVDSDEDGSTSRLSSSTEQSTSSRLIRKHKRRRRKQRLRQADRASSFSSI
TDSTMSLNIVTVTLNMERHHFLGISIVGQSNDRGDGGIYIGSIMKGGAVAADGRIEPGDM
LLQVNDVNFENMSNDDAVRVLREIVSQTGPISLTVAKCWDPTPRSYFTVPRADPVRPIDP
AAWLSHTAALTGALPRYGTSPCSSAVTRTSSSSLTSSVPGAPQLEEAPLTVKSDMSAVVR
VMQLPDSGLEIRDRMWLKITIANAVIGADVVDWLYTHVEGFKERREARKYASSLLKHGFL
RHTVNKITFSEQCYYVFGDLCSNLATLNLNSGSSGTSDQDTLAPLPHPAAPWPLGQGYPY
QYPGPPPCFPPAYQDPGFSYGSGSTGSQQSEGSKSSGSTRSSRRAPGREKERRAAGAGGS
GSESDHTAPSGVGSSWRERPAGQLSRGSSPRSQASATAPGLPPPHPTTKAYTVVGGPPGG
PPVRELAAVPPELTGSRQSFQKAMGNPCEFFVDIM

Sequence length

695

P54792

Protein name

Putative segment polarity protein dishevelled homolog DVL1P1 (DSH homolog 1-like) (Segment polarity protein dishevelled homolog DVL-1-like) (Dishevelled-1-like)

Protein function

May play a role in the signal transduction pathway mediated by multiple Wnt genes.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00778	DIX	2 → 83	DIX domain	Family
PF02377	Dishevelled	90 → 247	Dishevelled specific domain	Family
PF00595	PDZ	251 → 336	PDZ domain	Domain
PF00610	DEP	403 → 472	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain
PF12316	Dsh_C	478 → 660	Segment polarity protein dishevelled (Dsh) C terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in thymus, heart, liver, kidney, brain, skeletal muscle, and pancreas. {ECO:0000269|PubMed:8644734}.

Sequence

MAETKIIYHMDEEETPYLVKLPVAPERVTLADFKNVLSNRPVHAYKFFFKSMDQDFGVVK
EEIFDDNAKLPCFNGRVVSWLVLVEGAHSDAGSQGTDSHTDLPPPLERTGGIGDSRSPSF
QPDVASSRDGMDNETGTESMVSHRRDRARRRNREEAARTNGHPRGDRRRDVGLPPDSAST
ALSSELESSSFVDSDEDDSTSRLSSSTEQSTSSRLIRKHKRRRRKQRLRQADRASSFSSM
TDSTMSLNIITVTLNMERHHFLGICIVGQSNDRGDGGIYIGSIMKGGAVAADGRIEPGDM
LLQVNDVNFENMSNDDAVRVLREIVSQTGPISLTVAKCWDPTPRSYFTVPRPDPVRPIDP
AAWLSHTAALTGALPRPQLEEAPLTVESDMNTVVRVMQLPDSGLEIRDRMWLKITIANAV
IGADVVDWLYTHVEGFKERREARKYASSLLKHGFLRHTVNKITFSEQCYYVFGDLCSNLA
TLNLNSGSSGTSDQDTLAPLPHPAAPWPLGQGYPYQYPGPPPCFPPAYQDPGFSYGSGST
GSQQSEGSKSSGSTRNTLRPPACEKERRAAGSGDSDSESDHTAPSGVGSSWRERPADQLS
RGSSPRSQASSYAPGLPPPHPTTKAYTVVGGPPGGPPVRELAAVPPELTGSRQSFQKAMG
NPCEFFVDIM

Sequence length

670

Interactions

View interactions

115

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant Robinow syndrome 1	Pathogenic; Likely pathogenic	rs797044839, rs1643642110	RCV002247612 RCV001198409
Autosomal dominant Robinow syndrome 2	Likely pathogenic; Pathogenic	rs1643857128, rs797044837, rs797044840, rs797044833, rs797044839, rs797044838, rs797044835, rs797044834, rs797044836, rs869025220, rs1553173368, rs1553173367, rs1553173372, rs1553173420, rs1569684523 View all (3 more)	RCV002289257 RCV000193819 RCV000194315 RCV000192810 RCV000193267 RCV000195217 RCV000195250 RCV000193850 RCV000192930 RCV000208706 RCV000577906 RCV000577923 RCV000577899 RCV000577891 RCV000995758 RCV001353069 RCV001353068 RCV001265649

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs145496306	RCV005908773
DVL1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs531416128, rs34935417, rs113005319, rs61735963, rs371315460, rs61757368, rs772781809, rs374440563, rs141536842, rs1287882535, rs770137374, rs752706599, rs143905285, rs765342412, rs141682898 View all (26 more)	RCV003928872 RCV003980574 RCV003980512 RCV003980588 RCV003956257 RCV003911116 RCV003895863 RCV003968788 RCV003968771 RCV003958618 RCV003893185 RCV004754843 RCV004754937 RCV003973714 RCV004754969 RCV004754899 RCV003416935 RCV003418752 RCV003400242 RCV003410450 RCV003919317 RCV003981069 RCV004755022 RCV003898953 RCV003899754 RCV003911782 RCV003914378 RCV003924488 RCV003968964 RCV003935345 RCV003975297 RCV004731067 RCV003935937 RCV003972919 RCV003910545 RCV003910855 RCV003923016 RCV003968263 RCV003950608 RCV003975702 RCV003913104 RCV003913037
Familial cancer of breast	Likely benign	rs201582986	RCV005903132
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs142925511	RCV005906147
Gastric cancer	Conflicting classifications of pathogenicity	rs773112898	RCV005925916
Glioma susceptibility 1	Likely benign	rs749590844	RCV005935033
Intellectual disability	Benign; Likely benign	rs202097902	RCV005626607
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	rs142925511, rs142495951	RCV005906148 RCV005907592
See cases	Uncertain significance	rs2523130329	RCV002287772
Uterine carcinosarcoma	Likely benign	rs540896617	RCV005903184

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Astrocytoma	Associate	30468298
Brain Neoplasms	Associate	24933634
Breast Neoplasms	Associate	27281609
Carcinoma Ductal Breast	Associate	25824769
Carcinoma Hepatocellular	Associate	29583038, 32160521, 33042264
Carcinoma Non Small Cell Lung	Associate	15256063
Cardiovascular Abnormalities	Associate	24454898
Cell Transformation Neoplastic	Associate	32160521
Colorectal Neoplasms	Associate	24129181, 34288405
Diabetes Mellitus	Associate	27884142
Diabetes Mellitus Type 2	Associate	27884142
Fetal Growth Retardation	Associate	33485290
Glioblastoma	Associate	28481871, 36932454
Glomerulosclerosis Focal Segmental	Associate	33800671
Heart Defects Congenital	Associate	28472932
Hirschsprung Disease	Associate	24040443
Leukemia Lymphocytic Chronic B Cell	Associate	27086035
Leukemia T Cell	Associate	27086035
Lung Neoplasms	Associate	21599923, 24933634
Meningioma	Associate	34769425
Microcephaly	Associate	32160521
Multicystic Dysplastic Kidney	Associate	33800671
Nasal Polyps	Associate	38232516
Neoplasm Metastasis	Stimulate	24129181
Neoplasm Metastasis	Associate	24362520, 24933634, 34288405
Neoplasms	Associate	24129181, 24362520, 25643607, 30468298, 31700102, 32160521, 36809986, 36932454
Opitz GBBB Syndrome X Linked	Associate	25817014
Optic Nerve Glioma	Associate	30468298
Osteoarthritis	Associate	31560818
Osteoarthritis Knee	Associate	31560818
Osteosclerosis	Associate	25817014
Ovarian Neoplasms	Associate	21459799, 25643607
Raine syndrome	Associate	25817014
Renal Insufficiency Chronic	Associate	33800671
Retinoblastoma	Associate	39738380
Robinow Syndrome	Associate	25817014, 25817016, 26924530, 29276006, 33048444
Sarcoma Ewing	Associate	23396968
Thyroid Neoplasms	Associate	34456184
Triple Negative Breast Neoplasms	Associate	31700102

DVL1 (dishevelled segment polarity protein 1)