Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4091
Gene name	SMAD family member 6
Gene symbol	SMAD6
Synonyms (NCBI Gene)	AOVD2HsT17432MADH6MADH7
Chromosome	15
Chromosome location	15q22.31
Summary	The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila `mothers against decapentaplegic` (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387907283	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs387907284	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs761888345	C>T	Risk-factor	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs768542939	G>A,C	Pathogenic	Missense variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs900988907	C>A,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs958818801	CGGGCGG>-,CGGGCGGCGGGCGG	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, upstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057517824	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1064793003	C>T	Risk-factor	Stop gained, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs1085307122	G>-	Risk-factor	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1160042861	C>A,T	Pathogenic	Stop gained, genic upstream transcript variant, missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs1231501584	G>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1246889300	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Genic upstream transcript variant, upstream transcript variant, missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1395007983	C>A,G,T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1419095990	G>A,C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1447391811	C>A,T	Likely-pathogenic	Synonymous variant, upstream transcript variant, genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1567092020	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1567092071	A>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595756416	->G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595756640	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant
rs1595756703	GC>T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595756962	G>A	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1595757203	T>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595757398	G>A	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant
rs1595766210	G>T	Pathogenic	Non coding transcript variant, downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1595804976	->GGCATC	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe insertion

156

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001951	hsa-miR-520h	Luciferase reporter assay	18189265
MIRT001951	hsa-miR-520h	Microarray;Other	18189265
MIRT030225	hsa-miR-26b-5p	Microarray	19088304
MIRT627567	hsa-miR-8066	HITS-CLIP	23824327
MIRT627566	hsa-miR-4501	HITS-CLIP	23824327
MIRT627565	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT627564	hsa-miR-4287	HITS-CLIP	23824327
MIRT627563	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT627562	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT627561	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT627560	hsa-miR-3118	HITS-CLIP	23824327
MIRT627559	hsa-miR-3164	HITS-CLIP	23824327
MIRT627558	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT627557	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT627556	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT627555	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT627554	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT627553	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT627552	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT627551	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT627550	hsa-miR-1305	HITS-CLIP	23824327
MIRT627567	hsa-miR-8066	HITS-CLIP	23824327
MIRT627566	hsa-miR-4501	HITS-CLIP	23824327
MIRT627565	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT627564	hsa-miR-4287	HITS-CLIP	23824327
MIRT627563	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT627562	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT627561	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT627560	hsa-miR-3118	HITS-CLIP	23824327
MIRT627559	hsa-miR-3164	HITS-CLIP	23824327
MIRT627558	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT627557	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT627556	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT627555	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT627554	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT627553	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT627552	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT627551	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT627550	hsa-miR-1305	HITS-CLIP	23824327
MIRT140800	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT140794	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439143	hsa-let-7c-5p	3'LIFE	25074381
MIRT140800	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT140790	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT140803	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT140798	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT140805	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT140794	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT140797	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT140807	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT140796	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT439143	hsa-let-7c-5p	3'LIFE	25074381
MIRT627567	hsa-miR-8066	HITS-CLIP	23824327
MIRT627566	hsa-miR-4501	HITS-CLIP	23824327
MIRT627565	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT627564	hsa-miR-4287	HITS-CLIP	23824327
MIRT627563	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT627562	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT627561	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT627560	hsa-miR-3118	HITS-CLIP	23824327
MIRT627559	hsa-miR-3164	HITS-CLIP	23824327
MIRT627558	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT627557	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT627556	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT627555	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT627554	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT627553	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT627552	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT627551	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT627550	hsa-miR-1305	HITS-CLIP	23824327
MIRT627567	hsa-miR-8066	HITS-CLIP	23824327
MIRT627566	hsa-miR-4501	HITS-CLIP	23824327
MIRT627565	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT627564	hsa-miR-4287	HITS-CLIP	23824327
MIRT627563	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT627562	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT627561	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT627560	hsa-miR-3118	HITS-CLIP	23824327
MIRT627559	hsa-miR-3164	HITS-CLIP	23824327
MIRT627558	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT627557	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT627556	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT627555	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT627554	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT627553	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT627552	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT627551	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT627550	hsa-miR-1305	HITS-CLIP	23824327
MIRT1371025	hsa-miR-1224-3p	CLIP-seq
MIRT1371026	hsa-miR-1260	CLIP-seq
MIRT1371027	hsa-miR-1260b	CLIP-seq
MIRT1371028	hsa-miR-1280	CLIP-seq
MIRT1371029	hsa-miR-2052	CLIP-seq
MIRT1371030	hsa-miR-2355-3p	CLIP-seq
MIRT1371031	hsa-miR-25	CLIP-seq
MIRT1371032	hsa-miR-3119	CLIP-seq
MIRT1371033	hsa-miR-3194-3p	CLIP-seq
MIRT1371034	hsa-miR-32	CLIP-seq
MIRT1371035	hsa-miR-329	CLIP-seq
MIRT1371036	hsa-miR-362-3p	CLIP-seq
MIRT1371037	hsa-miR-363	CLIP-seq
MIRT1371038	hsa-miR-3648	CLIP-seq
MIRT1371039	hsa-miR-367	CLIP-seq
MIRT1371040	hsa-miR-3692	CLIP-seq
MIRT1371041	hsa-miR-3941	CLIP-seq
MIRT1371042	hsa-miR-410	CLIP-seq
MIRT1371043	hsa-miR-4646-3p	CLIP-seq
MIRT1371044	hsa-miR-4718	CLIP-seq
MIRT1371045	hsa-miR-4789-5p	CLIP-seq
MIRT1371046	hsa-miR-532-3p	CLIP-seq
MIRT1371047	hsa-miR-578	CLIP-seq
MIRT1371048	hsa-miR-603	CLIP-seq
MIRT1371049	hsa-miR-767-5p	CLIP-seq
MIRT1371050	hsa-miR-92a	CLIP-seq
MIRT1371051	hsa-miR-92b	CLIP-seq
MIRT1371052	hsa-miR-134	CLIP-seq
MIRT1371053	hsa-miR-196a	CLIP-seq
MIRT1371054	hsa-miR-196b	CLIP-seq
MIRT1371055	hsa-miR-3125	CLIP-seq
MIRT1371056	hsa-miR-3126-3p	CLIP-seq
MIRT1371057	hsa-miR-3163	CLIP-seq
MIRT1371058	hsa-miR-3682-3p	CLIP-seq
MIRT1371059	hsa-miR-369-3p	CLIP-seq
MIRT1371060	hsa-miR-374a	CLIP-seq
MIRT1371061	hsa-miR-374b	CLIP-seq
MIRT1371062	hsa-miR-3916	CLIP-seq
MIRT1371063	hsa-miR-3927	CLIP-seq
MIRT1371042	hsa-miR-410	CLIP-seq
MIRT1371064	hsa-miR-4476	CLIP-seq
MIRT1371065	hsa-miR-4533	CLIP-seq
MIRT1371066	hsa-miR-4667-5p	CLIP-seq
MIRT1371067	hsa-miR-4700-5p	CLIP-seq
MIRT1371068	hsa-miR-4736	CLIP-seq
MIRT1371069	hsa-miR-4749-3p	CLIP-seq
MIRT1371070	hsa-miR-4795-3p	CLIP-seq
MIRT1371071	hsa-miR-516a-5p	CLIP-seq
MIRT1371072	hsa-miR-548a-3p	CLIP-seq
MIRT1371073	hsa-miR-548a-5p	CLIP-seq
MIRT1371074	hsa-miR-548ab	CLIP-seq
MIRT1371075	hsa-miR-548ak	CLIP-seq
MIRT1371076	hsa-miR-548b-5p	CLIP-seq
MIRT1371077	hsa-miR-548c-5p	CLIP-seq
MIRT1371078	hsa-miR-548d-5p	CLIP-seq
MIRT1371079	hsa-miR-548e	CLIP-seq
MIRT1371080	hsa-miR-548f	CLIP-seq
MIRT1371081	hsa-miR-548h	CLIP-seq
MIRT1371082	hsa-miR-548i	CLIP-seq
MIRT1371083	hsa-miR-548j	CLIP-seq
MIRT1371084	hsa-miR-548n	CLIP-seq
MIRT1371085	hsa-miR-548w	CLIP-seq
MIRT1371086	hsa-miR-548y	CLIP-seq
MIRT1371087	hsa-miR-559	CLIP-seq
MIRT1371088	hsa-miR-587	CLIP-seq
MIRT1371089	hsa-miR-637	CLIP-seq
MIRT1371090	hsa-miR-656	CLIP-seq
MIRT2110144	hsa-miR-4258	CLIP-seq

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Transcription factor	Regulation	Reference
CREB1	Activation	14755548

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	16491121
GO:0001657	Process	Ureteric bud development	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003170	Process	Heart valve development	IEA
GO:0003180	Process	Aortic valve morphogenesis	IMP	22275001
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003183	Process	Mitral valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003281	Process	Ventricular septum development	IEA
GO:0003682	Function	Chromatin binding	IDA	16491121
GO:0005515	Function	Protein binding	IPI	9436979, 11483516, 16299379, 16491121, 21791611
GO:0005634	Component	Nucleus	IDA	16491121
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	33667543
GO:0005737	Component	Cytoplasm	TAS	19018011
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006955	Process	Immune response	IMP	16886151
GO:0007352	Process	Zygotic specification of dorsal/ventral axis	IMP	9436979
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	19047146
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IBA
GO:0030279	Process	Negative regulation of ossification	IEA
GO:0030279	Process	Negative regulation of ossification	ISS
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	8653785, 9389648
GO:0030509	Process	BMP signaling pathway	IDA	23455153
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	9256479
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	19047146
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	9436979, 33667543
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IMP	22275001, 30848080
GO:0031589	Process	Cell-substrate adhesion	IMP	16491121
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	11278251
GO:0032496	Process	Response to lipopolysaccharide	IDA	19193853
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IDA	16720724
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IEA
GO:0032991	Component	Protein-containing complex	IDA	23610558
GO:0034616	Process	Response to laminar fluid shear stress	IEA
GO:0034616	Process	Response to laminar fluid shear stress	IEP	9256479
GO:0034713	Function	Type I transforming growth factor beta receptor binding	IDA	9436979
GO:0034713	Function	Type I transforming growth factor beta receptor binding	IEA
GO:0035904	Process	Aorta development	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042802	Function	Identical protein binding	IPI	9436979
GO:0043066	Process	Negative regulation of apoptotic process	IMP	19047146
GO:0043627	Process	Response to estrogen	IEA
GO:0045444	Process	Fat cell differentiation	IDA	23455153
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	22275001
GO:0046872	Function	Metal ion binding	IEA
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IDA	9436979
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IEA
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IMP	19047146
GO:0060395	Process	SMAD protein signal transduction	IBA
GO:0060976	Process	Coronary vasculature development	IEA
GO:0070410	Function	Co-SMAD binding	IPI	9256479
GO:0070411	Function	I-SMAD binding	IBA
GO:0070411	Function	I-SMAD binding	IEA
GO:0070411	Function	I-SMAD binding	IPI	9256479
GO:0070412	Function	R-SMAD binding	IPI	9256479, 9436979
GO:0070697	Function	Activin receptor binding	IEA
GO:0070698	Function	Type I activin receptor binding	IDA	9436979
GO:0071144	Component	Heteromeric SMAD protein complex	IBA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0140311	Function	Protein sequestering activity	IDA	33667543
GO:0140416	Function	Transcription regulator inhibitor activity	IBA
GO:0140416	Function	Transcription regulator inhibitor activity	IDA	9256479
GO:0140416	Function	Transcription regulator inhibitor activity	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	TAS	19018011
GO:0141091	Process	Transforming growth factor beta receptor superfamily signaling pathway	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IEA

MIM	HGNC	e!Ensembl
602931	6772	ENSG00000137834

O43541

Protein name

Mothers against decapentaplegic homolog 6 (MAD homolog 6) (Mothers against DPP homolog 6) (SMAD family member 6) (SMAD 6) (Smad6) (hSMAD6)

Protein function

Transforming growth factor-beta superfamily receptors signaling occurs through the Smad family of intracellular mediators. SMAD6 is an inhibitory Smad (i-Smad) that negatively regulates signaling downstream of type I transforming growth factor-b

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03165	MH1	172 → 270	MH1 domain	Domain
PF03166	MH2	329 → 493	MH2 domain	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform B]: Expressed in the brain, heart, ovary, peripheral blood leukocytes, small intestine, spleen, thymus, bone marrow, fetal liver and lymph nodes. {ECO:0000269|PubMed:11284962}.

Sequence

MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEV
RPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESD
CETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL
KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVE
LKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSY
TETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVYDQAVSIFYDL
PQGSGFCLGQLNLEQRSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAP
GGRALVVRKVPPGYSIKVFDFERSGLQHAPEPDAADGPYDPNSVRISFAKGWGPCYSRQF
ITSCPCWLEILLNNPR

Sequence length

496

Interactions

View interactions

	KEGG		Reactome
	TGF-beta signaling pathway		Signaling by BMP RUNX2 regulates bone development

838

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal axial skeleton morphology	Pathogenic; Likely pathogenic	rs755868380, rs2140581013	RCV001799808 RCV001799787
Aortic valve disease 1	Pathogenic; Likely pathogenic	rs1567092020, rs900988907	RCV000770958 RCV000770957
Aortic valve disease 2	Likely pathogenic; Pathogenic	rs2140581013, rs1424182433, rs2140596481, rs2541900116, rs1567092048, rs1325349483, rs387907283, rs1595804976	RCV005005252 RCV005051916 RCV001783779 RCV003985972 RCV004555162 RCV004555360 RCV000030753 RCV000787047
Craniosynostosis 7	Likely pathogenic; Pathogenic	rs2140581013, rs868327024, rs1893041298	RCV005005252 RCV003151401 RCV001283760
Frontal bossing	Pathogenic	rs1894566397	RCV001799801
Heart, malformation of	Pathogenic	rs2140681185, rs1894566397	RCV001799771 RCV001799801
Plagiocephaly	Pathogenic	rs2140581198	RCV001799791
Polydactyly	Pathogenic	rs2140681839	RCV001799798
Premature closure of fontanelles	Pathogenic	rs1894566397	RCV001799801
Radioulnar synostosis	Pathogenic; Likely pathogenic	rs2140580300, rs2140580364, rs1893016936, rs1893018000, rs2140580751, rs755868380, rs1893025235, rs1893025784, rs2140581013, rs2140581167, rs2140581198, rs2140581279, rs2140581633, rs1893037722, rs1893041246 View all (20 more)	RCV001799769 RCV001799785 RCV001799772 RCV001799793 RCV001799779 RCV001799808 RCV001799806 RCV001799780 RCV001799787 RCV001799790 RCV001799791 RCV001799792 RCV001799775 RCV001799796 RCV001799777 RCV001799774 RCV001799773 RCV001799767 RCV001799802 RCV001799771 RCV001799807 RCV001799803 RCV001799798 RCV001799801 RCV001799799 RCV001799784 RCV001799800 RCV001799778 RCV000851358 RCV000851351 RCV000851355 RCV000851361 RCV000851360 RCV000851357 RCV000851356
Radioulnar synostosis, nonsyndromic, susceptibility to	Likely pathogenic	rs2140581013, rs2140681546	RCV005005252 RCV004820885
SMAD6-related disorder	Likely pathogenic	rs2545311830	RCV003406162
Thoracic aortic aneurysm	Likely pathogenic	rs1411192932	RCV001751796

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aneurysm-osteoarthritis syndrome	Conflicting classifications of pathogenicity	rs1246889300	RCV000538622
Bicuspid aortic valve	Uncertain significance	rs1473812330	RCV001799794
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO	risk factor; Conflicting classifications of pathogenicity; Uncertain significance	rs1085307122, rs1064793003, rs761888345	RCV000477938 RCV000477817 RCV000477904
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	rs958818801	RCV001849446
Esophageal atresia/tracheoesophageal fistula	Uncertain significance	rs1176080464	RCV001172302
Joubert syndrome 9	Uncertain significance	rs1333091798	RCV000985000

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	26683690
Adenocarcinoma of Lung	Associate	31503425
Aortic Aneurysm Thoracic	Associate	30796334
Arteriovenous Malformations	Inhibit	36198763
Autism Spectrum Disorder	Associate	34948243
Autistic Disorder	Associate	34208845
Axial osteomalacia	Associate	34953066
Bicuspid Aortic Valve Disease	Associate	30796334, 32748548
Bone Diseases	Associate	29420098
Calcinosis Cutis	Associate	27662660
Capillary Malformation Arteriovenous Malformation	Associate	34953066
Carcinoma Hepatocellular	Associate	27693511
Carcinoma Non Small Cell Lung	Associate	19047146, 23284751
Carcinoma Non Small Cell Lung	Inhibit	32150102
Carcinoma Pancreatic Ductal	Associate	21768661
Carcinoma Renal Cell	Associate	24916699
Colorectal Neoplasms	Associate	27662660
Craniosynostoses	Associate	27606499, 30796334, 32499606, 36732661
Diabetes Mellitus Type 1	Associate	35058920
Ectrodactyly cardiopathy dysmorphism	Associate	34208845
Esophageal Squamous Cell Carcinoma	Associate	15736400
Glioma	Associate	32744694
Heart Defects Congenital	Associate	27218255, 34208845, 40715143
Hypertension	Associate	37451613
Infections	Associate	27693511
Inflammation	Associate	29420098
Intracranial Arteriovenous Malformations	Associate	36198763
Keratoconus	Associate	26015770
Language Development Disorders	Associate	34208845, 36732661
Lung Diseases	Associate	32245290
Lung Neoplasms	Associate	19047146, 26683690
Mucocutaneous Lymph Node Syndrome	Associate	29344637
Neoplasm Metastasis	Associate	23284751, 27662660
Neoplasms	Associate	21768661, 29352111
Non Muscle Invasive Bladder Neoplasms	Associate	22228636
Obesity	Associate	36528638
Osteoarthritis	Associate	27208419
Osteosarcoma	Associate	39454801
Ovarian Neoplasms	Associate	21984931
Pathological Conditions Anatomical	Associate	34208845
Periodontitis	Associate	29420098
Polydactyly	Associate	34953066
Prostatic Neoplasms	Associate	33174391
Radioulnar Synostosis	Associate	31138930, 34953066, 36984532
Squamous Cell Carcinoma of Head and Neck	Associate	20462450
Telangiectasia Hereditary Hemorrhagic	Associate	37689549
Urinary Bladder Neurogenic	Inhibit	35662268

SMAD6 (SMAD family member 6)