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DVL1 (dishevelled segment polarity protein 1)

Gene

1855

Dishevelled segment polarity protein 1

DVL1

DRS2, DVL, DVL1L1, DVL1P1

1p36.33

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

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

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 assay, Western blotting, Microarray, Immunohistochemistry (IHC), ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735873	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-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

Show/Hide all(71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001505	Process	Regulation of neurotransmitter levels	ISS
GO:0001934	Process	Positive regulation of protein phosphorylation	IEA
GO:0003674	Function	Molecular_function	ND
GO:0005109	Function	Frizzled binding	IBA	21873635
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
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	IDA	11742073
GO:0006469	Process	Negative regulation of protein kinase activity	IDA	10330181
GO:0007269	Process	Neurotransmitter secretion	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0007507	Process	Heart development	NAS	8644734
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:0016328	Component	Lateral plasma membrane	IDA	20177058
GO:0019899	Function	Enzyme binding	IPI	15454084, 19643732
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:0030426	Component	Growth cone	IDA	19625296
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	11113207
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0032091	Process	Negative regulation of protein binding	IDA	19643732
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	20177058
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	ISS
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12805222, 17593335
GO:0048668	Process	Collateral sprouting	IEA
GO:0048675	Process	Axon extension	IEA
GO:0048813	Process	Dendrite morphogenesis	ISS
GO:0050808	Process	Synapse organization	ISS
GO:0050821	Process	Protein stabilization	IDA	19625296
GO:0060070	Process	Canonical Wnt signaling pathway	IBA	21873635
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	11113207, 12556519, 14747478, 17593335
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	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:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090179	Process	Planar cell polarity pathway involved in neural tube closure	IBA	21873635
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099054	Process	Presynapse assembly	TAS	24449494
GO:0150012	Process	Positive regulation of neuron projection arborization	ISS
GO:1903827	Process	Regulation of cellular protein localization	IDA	19625296
GO:1904886	Process	Beta-catenin destruction complex disassembly	TAS
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

Protein

UniProt ID

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

UniProt ID

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

Sequence

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

Sequence length

670

Interactions

View interactions

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

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	25817016, 17256787, 25817014
Oligodontia	Oligodontia	rs1591901585
Robinow syndrome	Robinow Syndrome, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, Robinow Syndrome, Autosomal Dominant, Autosomal dominant Robinow syndrome	rs121909083, rs121909084, rs121909085, rs121909086, rs863223291, rs121909087, rs267607016, rs387906663, rs786200925, rs786204836, rs797044837, rs797044840, rs797044833, rs797044839, rs797044838, rs797044835, rs797044834, rs797044836, rs869025220, rs869025215, rs869025216, rs869025217, rs869025218, rs869025219, rs1553173368, rs1553173367, rs1553173372, rs1553173420, rs1553811652, rs1553677971, rs1223920489, rs1555657073, rs1555657074, rs1555607285, rs1555610590, rs1568105666, rs1587655016, rs1587690611, rs1577052471, rs1569684523, rs1577052785	25817016, 29276006, 25817014, 25817016, 26924530
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (35)

Unknown
Disease name	Disease term	dbSNP ID	References
Accessory kidney	Accessory kidney
Alopecia	Alopecia
Anodontia	Developmental absence of tooth
Avascular necrosis of the capital femoral epiphysis	Avascular necrosis of the capital femoral epiphysis
Camptodactyly of fingers	Clinodactyly of the 5th finger
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital epicanthus	Congenital Epicanthus
Congenital euryblepharon	Congenital euryblepharon
Congenital exomphalos	Congenital exomphalos
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum
Dwarfism	Dwarfism
Epispadias	Epispadias
Fingernail dysplasia	Fingernail dysplasia
Frontal bossing	Frontal bossing
Hernia, femoral	Hernia, Femoral
High palate	Byzanthine arch palate
Hydronephrosis	Hydronephrosis
Hypodontia	Hypodontia
Hypospadias	Hypospadias
Legg-calve-perthes disease	Legg-Calve-Perthes Disease
Macroglossia	Macroglossia
Mesomelia	Mesomelia
Micrognathism	Micrognathism
Micromelia	Micromelia
Penis agenesis	Penis agenesis
Phakomatosis pigmentovascularis	Port-Wine Stain
Posteriorly rotated ear	Posteriorly rotated ear
Proptosis	Exophthalmos
Ptosis	Blepharoptosis, Ptosis	rs139920573
Specific learning disorder	Specific learning disability	rs1057519497
Strabismus	Strabismus
Strawberry nevus of skin	Strawberry nevus of skin
Syndactyly of fingers	Syndactyly of fingers

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