Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

18 Show/Hide all (18)

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 Show/Hide all (126)

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 Show/Hide all (101)

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
PF00595	PDZ	251 → 336	PDZ domain	Domain
PF00610	DEP	428 → 497	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain
PF00778	DIX	2 → 83	DIX domain	Family
PF02377	Dishevelled	90 → 247	Dishevelled specific domain	Family
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
PF00595	PDZ	251 → 336	PDZ domain	Domain
PF00610	DEP	403 → 472	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain
PF00778	DIX	2 → 83	DIX domain	Family
PF02377	Dishevelled	90 → 247	Dishevelled specific domain	Family
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

KEGG Pathway	Reactome Pathway
mTOR signaling pathway	WNT mediated activation of DVL
Wnt signaling pathway	PCP/CE pathway
Notch signaling pathway	Degradation of DVL
Hippo signaling pathway	Disassembly of the destruction complex and recruitment of AXIN to the membrane
Signaling pathways regulating pluripotency of stem cells	RHO GTPases Activate Formins
Melanogenesis	WNT5:FZD7-mediated leishmania damping
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

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)

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (26)
AUTOSOMAL DOMINANT ROBINOW SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	25817016, 25817016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	27197191	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	27197191	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	27197191	★★★★★ ★★☆☆☆ 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	27197191	★★★★★ ★★☆☆☆ 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	27197191	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	27197191	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	27197191	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	27197191	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	27197191	★★★★★ ★★☆☆☆ 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	27197191	★★★★★ ★★☆☆☆ 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	25817016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	27197191	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (137)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DVL3	1	["Robinow syndrome"]	17	["mTOR signaling pathway","Wnt signaling pathway","Notch signaling pathway","Hippo signaling pathway","Signaling pathways regulating pluripotency of stem cells","Melanogenesis","Cushing syndrome","Basal cell carcinoma","Breast cancer","Hepatocellular carcinoma","Gastric cancer","Disassembly of the destruction complex and recruitment of AXIN to the membrane"]	5	["Disgenet (Robinow syndrome)","Orphanet (Robinow syndrome)","ClinVar (Robinow syndrome)","CTD (Robinow syndrome)","HPO (Robinow syndrome)"]
LMTK2	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
PRKCI	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	1	["Hippo signaling pathway"]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
MSMB	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]
KLK2	3	["Cancer","Estrogen-receptor negative breast cancer","Ovarian serous carcinoma"]	0	[]	3	["GWAS catalog (Cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Ovarian serous carcinoma)"]

DVL1 (dishevelled segment polarity protein 1)

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