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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant Robinow syndrome 1	Pathogenic; Likely pathogenic	rs797044839, rs1643642110	RCV002247612 RCV001198409	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL DOMINANT ROBINOW SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DVL1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (137)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory kidney	Accessory Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18692936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	30468298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant Robinow syndrome	Robinow Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24933634	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26325443, 30249392		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17897439, 27281609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	11354832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	28618949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	25824769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29583038, 32160521, 33042264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20572159, 24933634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21459799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	24454898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11354832		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16457155		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	16457155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	14506752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	20798123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27086035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17671721, 31571476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	31571476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24129181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18538736, 21262972, 24129181, 34288405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital euryblepharon	Congenital Euryblepharon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	BEFREE	23836490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	31423758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27884142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27884142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	8644734		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	25817016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	23283079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fingernail dysplasia	Fingernail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	27714636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	31816052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	31816052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28481871, 36932454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31054301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	33800671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28472932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24040443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24040443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29209781, 30400110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17671721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Ischemic Stroke	BEFREE	11354832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27086035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18692936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21599923, 24933634	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25436461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12824876, 26325443, 30249392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29583038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20572159, 24933634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21459799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16457155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25643607, 27086035, 30468298, 31700102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16457155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17671721, 31571476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	23283079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	34769425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	18225596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32160521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic dysplastic kidney	Pubtator	33800671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	17256787, 25817014, 25817016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	40420163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28840581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	38232516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12824876, 24129181, 30249392, 30468298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	23836490, 27714636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17724465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	14562050, 18692936, 20572159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31560818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	31560818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	25817014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	25817014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21459799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21459799, 25643607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30400110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16457155		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16457155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	39738380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Robinow Syndrome	Robinow Syndrome	BEFREE	25817014, 26924530, 29276006		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Robinow Syndrome	Robinow syndrome	Pubtator	25817014, 25817016, 26924530, 29276006, 33048444	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Robinow Syndrome	Robinow Syndrome	ORPHANET_DG	25817016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Robinow Syndrome	Robinow Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Robinow Syndrome, Autosomal Dominant	Robinow Syndrome	BEFREE	25817016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Robinow Syndrome, Autosomal Dominant	Robinow Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	Robinow Syndrome	GENOMICS_ENGLAND_DG	25817014, 25817016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	Robinow Syndrome	CLINVAR_DG	25817016, 26924530, 29276006		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	23396968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	27714636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18692936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Neoplasms	Neoplasm	LHGDN	12883684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	15099357, 31423758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34456184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26325443, 31700102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31700102		★★★★★ ★☆☆☆☆ Found in Text Mining only

DVL1 (dishevelled segment polarity protein 1)