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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	7043
Gene name	Transforming growth factor beta 3
Gene symbol	TGFB3
Synonyms (NCBI Gene)	ARVDARVD1LDS5RNHFTGF-beta3
Chromosome	14
Chromosome location	14q24.3
Summary	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143229915	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs387906514	G>A	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant
rs398122984	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587777617	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs767548724	C>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs770828281	C>T	Pathogenic, uncertain-significance	5 prime UTR variant
rs778990969	A>G,T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs796051885	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs796051886	C>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs875989816	A>G	Pathogenic	Splice donor variant
rs875989817	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057522944	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523647	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1060502826	CC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502827	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1555360027	C>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555360047	TCAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555360222	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555360229	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555360362	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555360368	->TTCCTCTG	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs1555360883	C>G	Likely-pathogenic	Splice acceptor variant
rs1555361385	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555361451	T>A	Pathogenic	Stop gained, coding sequence variant
rs1566679646	C>G	Likely-pathogenic	Splice acceptor variant
rs1566682530	C>G	Likely-pathogenic	Splice acceptor variant
rs1594787989	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1594792466	A>-	Pathogenic	Frameshift variant, coding sequence variant

158

Show/Hide all (158)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005910	hsa-miR-29a-3p	qRT-PCR	21169019
MIRT047598	hsa-miR-10a-5p	CLASH	23622248
MIRT000095	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCR	23354167
MIRT000095	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCR	23354167
MIRT734385	hsa-miR-365a-3p	qRT-PCRELISA	34185228
MIRT1421162	hsa-miR-2278	CLIP-seq
MIRT1421163	hsa-miR-3120-3p	CLIP-seq
MIRT1421164	hsa-miR-3908	CLIP-seq
MIRT1421165	hsa-miR-4468	CLIP-seq
MIRT1421166	hsa-miR-4536	CLIP-seq
MIRT1421167	hsa-miR-576-3p	CLIP-seq
MIRT2126355	hsa-miR-1182	CLIP-seq
MIRT2126356	hsa-miR-1273d	CLIP-seq
MIRT2126357	hsa-miR-1275	CLIP-seq
MIRT2126358	hsa-miR-193a-5p	CLIP-seq
MIRT2126359	hsa-miR-204	CLIP-seq
MIRT2126360	hsa-miR-211	CLIP-seq
MIRT2126361	hsa-miR-3591-3p	CLIP-seq
MIRT2126362	hsa-miR-3646	CLIP-seq
MIRT2126363	hsa-miR-3692	CLIP-seq
MIRT2126364	hsa-miR-369-5p	CLIP-seq
MIRT2126365	hsa-miR-4271	CLIP-seq
MIRT2126366	hsa-miR-432	CLIP-seq
MIRT2126367	hsa-miR-4443	CLIP-seq
MIRT2126368	hsa-miR-4447	CLIP-seq
MIRT2126369	hsa-miR-4472	CLIP-seq
MIRT2126370	hsa-miR-4517	CLIP-seq
MIRT2126371	hsa-miR-4525	CLIP-seq
MIRT2126372	hsa-miR-4665-5p	CLIP-seq
MIRT2126373	hsa-miR-4723-5p	CLIP-seq
MIRT2126374	hsa-miR-4725-3p	CLIP-seq
MIRT2126375	hsa-miR-4795-5p	CLIP-seq
MIRT2126376	hsa-miR-548b-3p	CLIP-seq
MIRT2126377	hsa-miR-625	CLIP-seq
MIRT2126378	hsa-miR-873	CLIP-seq
MIRT2348364	hsa-miR-1291	CLIP-seq
MIRT2348365	hsa-miR-1301	CLIP-seq
MIRT2348366	hsa-miR-145	CLIP-seq
MIRT2348367	hsa-miR-3120-5p	CLIP-seq
MIRT2348368	hsa-miR-3126-5p	CLIP-seq
MIRT2348369	hsa-miR-3176	CLIP-seq
MIRT2348370	hsa-miR-328	CLIP-seq
MIRT2348371	hsa-miR-346	CLIP-seq
MIRT2348372	hsa-miR-3661	CLIP-seq
MIRT2126364	hsa-miR-369-5p	CLIP-seq
MIRT2348373	hsa-miR-3922-3p	CLIP-seq
MIRT2348374	hsa-miR-3944-5p	CLIP-seq
MIRT2348375	hsa-miR-4264	CLIP-seq
MIRT2348376	hsa-miR-4288	CLIP-seq
MIRT2348377	hsa-miR-4419a	CLIP-seq
MIRT2348378	hsa-miR-4510	CLIP-seq
MIRT2126370	hsa-miR-4517	CLIP-seq
MIRT2348379	hsa-miR-4520a-5p	CLIP-seq
MIRT2348380	hsa-miR-4520b-5p	CLIP-seq
MIRT2348381	hsa-miR-4660	CLIP-seq
MIRT2348382	hsa-miR-4711-3p	CLIP-seq
MIRT2348383	hsa-miR-4732-3p	CLIP-seq
MIRT2348384	hsa-miR-4779	CLIP-seq
MIRT2126375	hsa-miR-4795-5p	CLIP-seq
MIRT2348385	hsa-miR-5047	CLIP-seq
MIRT2348386	hsa-miR-619	CLIP-seq
MIRT2348387	hsa-miR-622	CLIP-seq
MIRT2348388	hsa-miR-631	CLIP-seq
MIRT2348389	hsa-miR-632	CLIP-seq
MIRT2348390	hsa-miR-665	CLIP-seq
MIRT2348391	hsa-miR-938	CLIP-seq
MIRT2395714	hsa-miR-1324	CLIP-seq
MIRT2641107	hsa-miR-1237	CLIP-seq
MIRT2641108	hsa-miR-1238	CLIP-seq
MIRT2641109	hsa-miR-1248	CLIP-seq
MIRT2641110	hsa-miR-188-5p	CLIP-seq
MIRT2641111	hsa-miR-1913	CLIP-seq
MIRT2126359	hsa-miR-204	CLIP-seq
MIRT2641112	hsa-miR-2053	CLIP-seq
MIRT2126360	hsa-miR-211	CLIP-seq
MIRT2641113	hsa-miR-2909	CLIP-seq
MIRT2641114	hsa-miR-3064-3p	CLIP-seq
MIRT2348367	hsa-miR-3120-5p	CLIP-seq
MIRT2641115	hsa-miR-3124-3p	CLIP-seq
MIRT2641116	hsa-miR-3171	CLIP-seq
MIRT2641117	hsa-miR-324-3p	CLIP-seq
MIRT2348371	hsa-miR-346	CLIP-seq
MIRT2641118	hsa-miR-3667-3p	CLIP-seq
MIRT2641119	hsa-miR-3668	CLIP-seq
MIRT2641120	hsa-miR-4287	CLIP-seq
MIRT2348376	hsa-miR-4288	CLIP-seq
MIRT2641121	hsa-miR-4317	CLIP-seq
MIRT2641122	hsa-miR-4421	CLIP-seq
MIRT2641123	hsa-miR-4469	CLIP-seq
MIRT2348379	hsa-miR-4520a-5p	CLIP-seq
MIRT2348380	hsa-miR-4520b-5p	CLIP-seq
MIRT2641124	hsa-miR-4685-3p	CLIP-seq
MIRT2641125	hsa-miR-4709-3p	CLIP-seq
MIRT2641126	hsa-miR-4713-5p	CLIP-seq
MIRT2641127	hsa-miR-4715-3p	CLIP-seq
MIRT2641128	hsa-miR-4732-5p	CLIP-seq
MIRT2641129	hsa-miR-490-3p	CLIP-seq
MIRT2641130	hsa-miR-511	CLIP-seq
MIRT2641131	hsa-miR-569	CLIP-seq
MIRT2641132	hsa-miR-605	CLIP-seq
MIRT2348389	hsa-miR-632	CLIP-seq
MIRT2641133	hsa-miR-649	CLIP-seq
MIRT2348391	hsa-miR-938	CLIP-seq
MIRT2641107	hsa-miR-1237	CLIP-seq
MIRT2641108	hsa-miR-1238	CLIP-seq
MIRT2641109	hsa-miR-1248	CLIP-seq
MIRT2395714	hsa-miR-1324	CLIP-seq
MIRT2692983	hsa-miR-144	CLIP-seq
MIRT2641110	hsa-miR-188-5p	CLIP-seq
MIRT2641111	hsa-miR-1913	CLIP-seq
MIRT2126359	hsa-miR-204	CLIP-seq
MIRT2641112	hsa-miR-2053	CLIP-seq
MIRT2126360	hsa-miR-211	CLIP-seq
MIRT2641113	hsa-miR-2909	CLIP-seq
MIRT2641114	hsa-miR-3064-3p	CLIP-seq
MIRT2641115	hsa-miR-3124-3p	CLIP-seq
MIRT2692984	hsa-miR-3125	CLIP-seq
MIRT2692985	hsa-miR-3157-3p	CLIP-seq
MIRT2641116	hsa-miR-3171	CLIP-seq
MIRT2641117	hsa-miR-324-3p	CLIP-seq
MIRT2641118	hsa-miR-3667-3p	CLIP-seq
MIRT2641119	hsa-miR-3668	CLIP-seq
MIRT2692986	hsa-miR-3916	CLIP-seq
MIRT2641120	hsa-miR-4287	CLIP-seq
MIRT2641121	hsa-miR-4317	CLIP-seq
MIRT2641122	hsa-miR-4421	CLIP-seq
MIRT2641123	hsa-miR-4469	CLIP-seq
MIRT2692987	hsa-miR-450b-5p	CLIP-seq
MIRT2692988	hsa-miR-4645-3p	CLIP-seq
MIRT2692989	hsa-miR-4666-3p	CLIP-seq
MIRT2641124	hsa-miR-4685-3p	CLIP-seq
MIRT2692990	hsa-miR-4712-3p	CLIP-seq
MIRT2641126	hsa-miR-4713-5p	CLIP-seq
MIRT2641127	hsa-miR-4715-3p	CLIP-seq
MIRT2641128	hsa-miR-4732-5p	CLIP-seq
MIRT2641129	hsa-miR-490-3p	CLIP-seq
MIRT2641130	hsa-miR-511	CLIP-seq
MIRT2692991	hsa-miR-518a-5p	CLIP-seq
MIRT2692992	hsa-miR-527	CLIP-seq
MIRT2692993	hsa-miR-548a-5p	CLIP-seq
MIRT2692994	hsa-miR-548ab	CLIP-seq
MIRT2692995	hsa-miR-548ak	CLIP-seq
MIRT2692996	hsa-miR-548b-5p	CLIP-seq
MIRT2692997	hsa-miR-548c-5p	CLIP-seq
MIRT2692998	hsa-miR-548d-5p	CLIP-seq
MIRT2692999	hsa-miR-548h	CLIP-seq
MIRT2693000	hsa-miR-548i	CLIP-seq
MIRT2693001	hsa-miR-548j	CLIP-seq
MIRT2693002	hsa-miR-548n	CLIP-seq
MIRT2693003	hsa-miR-548w	CLIP-seq
MIRT2693004	hsa-miR-548y	CLIP-seq
MIRT2693005	hsa-miR-559	CLIP-seq
MIRT2641131	hsa-miR-569	CLIP-seq
MIRT2641132	hsa-miR-605	CLIP-seq
MIRT2641133	hsa-miR-649	CLIP-seq
MIRT2693006	hsa-miR-874	CLIP-seq
MIRT2693007	hsa-miR-877	CLIP-seq
MIRT2348391	hsa-miR-938	CLIP-seq

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Transcription factor	Regulation	Reference
HIF1A	Activation	16611863
HIF1A	Repression	10831118

Show/Hide all (72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	18156205
GO:0001666	Process	Response to hypoxia	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IDA	11157754, 18243111
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IEA
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IMP	8167376
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IPI	1333888
GO:0005125	Function	Cytokine activity	IBA
GO:0005160	Function	Transforming growth factor beta receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	1326540, 7852346, 9872992, 10930463, 11157754, 11850637, 17827158, 18243111, 21423151
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IC	11157754
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	12015308, 18548003
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	11157754, 18718461
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	ISS
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0007435	Process	Salivary gland morphogenesis	IEP	18080134
GO:0007507	Process	Heart development	IBA
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	11158066
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	11158066
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	18505915, 18718461
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	ISS
GO:0010936	Process	Negative regulation of macrophage cytokine production	IDA	20875417
GO:0010936	Process	Negative regulation of macrophage cytokine production	IEA
GO:0030879	Process	Mammary gland development	ISS
GO:0031012	Component	Extracellular matrix	IDA	18049952
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0032570	Process	Response to progesterone	IDA	18039789
GO:0032570	Process	Response to progesterone	IEA
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IMP	11158066
GO:0034713	Function	Type I transforming growth factor beta receptor binding	IDA	18243111
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IEA
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IMP	8167376
GO:0042127	Process	Regulation of cell population proliferation	IBA
GO:0042476	Process	Odontogenesis	NAS	18078367
GO:0042704	Process	Uterine wall breakdown	TAS	18039789
GO:0042802	Function	Identical protein binding	IDA	18243111
GO:0042802	Function	Identical protein binding	IPI	19073914, 21423151
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0045216	Process	Cell-cell junction organization	IDA	18505915
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18156205
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048286	Process	Lung alveolus development	ISS
GO:0050431	Function	Transforming growth factor beta binding	IDA	18243111
GO:0050714	Process	Positive regulation of protein secretion	IDA	18505915
GO:0050714	Process	Positive regulation of protein secretion	IEA
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051491	Process	Positive regulation of filopodium assembly	ISS
GO:0051496	Process	Positive regulation of stress fiber assembly	IDA	18718461
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0060325	Process	Face morphogenesis	IMP	12651933
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:0062009	Process	Secondary palate development	ISS
GO:0070483	Process	Detection of hypoxia	IDA	18156205
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0141091	Process	Transforming growth factor beta receptor superfamily signaling pathway	IEA
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IDA	26315405
GO:1905005	Process	Regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:1905075	Process	Positive regulation of tight junction disassembly	IDA	18718461

MIM	HGNC	e!Ensembl
190230	11769	ENSG00000119699

P10600

Protein name

Transforming growth factor beta-3 proprotein [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-3 (TGF-beta-3)]

Protein function

Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. {ECO:00002

PDB

1KTZ , 1TGJ , 1TGK , 2PJY , 3EO1 , 4UM9 , 8V52 , 8VS6 , 8VSB , 9B9F , 9FK5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	23 → 281	TGF-beta propeptide	Family
PF00019	TGF_beta	314 → 411	Transforming growth factor beta like domain	Domain

Sequence

MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPT
VMTHVPYQVLALYNSTRELLEEMHGEREEGCTQENTESEYYAKEIHKFDMIQGLAEHNEL
AVCPKGITSKVFRFNVSSVEKNRTNLFRAEFRVLRVPNPSSKRNEQRIELFQILRPDEHI
AKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESNLGLEISIHCPCHTFQPNGDILE
NIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNPHLILMMIPPHRLDNPGQGGQRKKR
ALDTNYCFRNLEENCCVRPLYIDFRQDLGWKWVHEPKGYYANFCSGPCPYLRSADTTHST
VLGLYNTLNPEASASPCCVPQDLEPLTILYYVGRTPKVEQLSNMVVKSCKCS

Sequence length

412

Interactions

View interactions

820

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arrhythmogenic right ventricular dysplasia 1	Pathogenic; Likely pathogenic	rs2035295129, rs1060502827, rs767548724, rs1555360047, rs2035287906	RCV001333115 RCV002481450 RCV002060544 RCV002499009 RCV004813705
Developmental disorder	Likely pathogenic; Pathogenic	rs1060502827	RCV003126747
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs2503023443, rs2504093549, rs1060502826, rs796051885, rs2504102952, rs2504096267, rs1057523647, rs1060502827, rs1555360368, rs1555360229, rs1555360047, rs2035418540, rs2035180096	RCV002326078 RCV002340692 RCV002449826 RCV001171230 RCV003486422 RCV004508507 RCV002313125 RCV002393139 RCV002314910 RCV000770646 RCV002315247 RCV002429734 RCV005749721
Loeys-Dietz syndrome	Likely pathogenic; Pathogenic	rs1060502826, rs1555360229	RCV004017991 RCV005431682 RCV005418216
Rienhoff syndrome	Likely pathogenic; Pathogenic	rs2035180096, rs2140236217, rs2140254449, rs2140245186, rs2140240223, rs2140236210, rs2140246004, rs2140245836, rs587777617, rs1060502826, rs2504111963, rs875989816, rs796051885, rs875989817, rs1566679646 View all (30 more)	RCV002550247 RCV003104065 RCV002551569 RCV002573327 RCV002554169 RCV002551621 RCV002563624 RCV002568521 RCV000133467 RCV005097285 RCV003050507 RCV000185629 RCV000185630 RCV000185631 RCV002671888 RCV002833882 RCV002861565 RCV002889160 RCV002852446 RCV002894053 RCV003011391 RCV003015079 RCV003039382 RCV003024407 RCV003044031 RCV003583231 RCV003583631 RCV003583823 RCV003745708 RCV003745966 RCV003743193 RCV002522557 RCV002481450 RCV002526425 RCV000509830 RCV001809469 RCV003583166 RCV002527944 RCV002527950 RCV002527951 RCV000576406 RCV002499009 RCV002534215 RCV002544847 RCV002553933 RCV002554568 RCV002553965 RCV003103924 RCV000077765
TGFB3-related connective tissue disorders	Likely pathogenic	rs2035294180	RCV001270824
TGFB3-related disorder	Likely pathogenic	rs2503023741, rs2503023915	RCV003404214 RCV003414385

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs770911263, rs1288935716, rs142047577, rs869025534, rs774422953, rs3917216, rs71451199, rs886050802, rs1299759608	RCV002260467 RCV002260468 RCV000590908 RCV000208388 RCV000310259 RCV000274594 RCV000270390 RCV000364961 RCV000370729 RCV000622564
Brugada syndrome	Uncertain significance	rs547264290	RCV000852458
Cardiomyopathy	Conflicting classifications of pathogenicity	rs143229915	RCV000852703
Cardiovascular phenotype	Uncertain significance	rs1411673111	RCV005404964
Collapse (finding)	Uncertain significance	rs183740022	RCV000157515
Flexion contracture	Uncertain significance	rs1594792466	RCV001007841
Hereditary disorder of connective tissue	Conflicting classifications of pathogenicity	rs1555360212	RCV005250091
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs142047577, rs796051886	RCV000852702 RCV000498355
Long QT syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs1191368075, rs142047577, rs2504099604	RCV003318419 RCV003318362 RCV003318452
Malignant tumor of esophagus	Benign	rs3917190	RCV005915789
Ovarian serous cystadenocarcinoma	Benign	rs3917190	RCV005915791
Premature ventricular contraction	Uncertain significance	rs183740022	RCV000157515
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs766164843	RCV000852701
Sarcoma	Benign	rs3917190	RCV005915790
See cases	Uncertain significance	rs1018415204, rs2504100008	RCV002287754 RCV002287755
Uterine corpus endometrial carcinoma	Benign	rs3917190	RCV005915792

Show/Hide Text Mining Associations (127)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Stimulate	36564776
Adrenal Hyperplasia Congenital	Stimulate	24380766
Airway Remodeling	Associate	25041788
Androgen Insensitivity Syndrome	Stimulate	25313366
Angiofibroma	Associate	14567719
Anodontia	Associate	12733956
Aortic Aneurysm	Associate	25835445
Aortic Aneurysm Thoracic	Associate	36356561
Aortic Dissection	Associate	25835445
Aortic Valve Stenosis	Associate	29227539
Arrhythmogenic Right Ventricular Dysplasia	Associate	25445213
Arthritis Rheumatoid	Associate	20041492
Asthma	Associate	35774789
Breast Neoplasms	Associate	21527583, 24335925, 29320969, 33294922, 8264630
Breast Neoplasms	Stimulate	30579251
Cachexia	Stimulate	28288584
Carcinoma Basal Cell	Inhibit	26703884
Cardiomyopathies	Associate	32344918
Cardiomyopathy Hypertrophic	Associate	32344918
Cardiovascular Diseases	Associate	25835445
Chondrosarcoma	Associate	23088614
Chronic Periodontitis	Associate	27058373
Cicatrix	Associate	24717775
Cicatrix Hypertrophic	Stimulate	10903802
Cleft Lip	Associate	12733956, 28386053, 9683588
Cleft Palate	Associate	24738728, 30345304, 36901988, 9683588
Clubfoot	Associate	25835445
Colitis Ulcerative	Associate	11742810
Colorectal Neoplasms	Associate	29504907
Compassion Fatigue	Stimulate	17225872
Constriction Pathologic	Stimulate	11742810
Corneal Dystrophy Band Shaped	Associate	20142847
Crohn Disease	Inhibit	11742810, 12651627
Crohn Disease	Stimulate	9923802
Desmoplastic Small Round Cell Tumor	Associate	15389255
Diabetes Gestational	Associate	33287755
Diabetic Nephropathies	Associate	9067916
Dissection Abdominal Aorta	Associate	25835445
Down Syndrome	Associate	29244857
Endometrial Neoplasms	Associate	17150964
Esophageal Neoplasms	Associate	34725559
Exfoliation Syndrome	Associate	36139071
Fatigue Syndrome Chronic	Associate	29202780
Fetal Growth Retardation	Associate	18156205
Fetal Growth Retardation	Inhibit	29161966
Fibrocartilaginous embolism	Associate	22907063
Fibrosis	Associate	11413354, 21148227, 24800655, 34827680, 35774789, 36139071, 9150474
Fibrosis	Stimulate	21289245
Fibrosis	Inhibit	30983140
Glaucoma	Associate	33746571, 36835591
Glioblastoma	Associate	25849941
Glomerulonephritis	Associate	9067916
Glomerulosclerosis Focal Segmental	Associate	9150474
Heart Valve Diseases	Associate	29227539
Hemimegalencephaly	Associate	16196383
HIV Infections	Inhibit	36006052
HIV Infections	Stimulate	9150474
Hypertension	Associate	18293167
Hypertension Pregnancy Induced	Associate	19628198
Hypoxia	Stimulate	29980690, 35377824
Infertility	Associate	26612435
Infertility Male	Associate	26612435
Inflammation	Inhibit	22907063
Inflammation	Associate	24516231, 26015767, 29244857, 34639099, 35774789, 38065913
Intracranial Arteriovenous Malformations	Associate	10235000
Keloid	Associate	24436441
Kidney Diseases	Associate	18293167
Kidney Failure Chronic	Associate	9067916
Leiomyoma	Associate	10785229, 15139000, 17222838, 19328471, 19700613, 21084396, 21703609, 22425196, 25596622, 27743697, 29525690, 29747655, 31843095, 35377824, 36771423
Leiomyoma	Stimulate	24825427, 30871768
Leukemia	Associate	10907639
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10907639
Loeys Dietz Syndrome	Associate	36328362, 36356561
Lung Diseases	Associate	11413354
Lung Neoplasms	Associate	23977152
Melanoma	Associate	8669474
Mitral Valve Stenosis	Associate	25835445
Multiple Sclerosis	Associate	26768647
Multiple Sclerosis Relapsing Remitting	Stimulate	35328606
Myocardial Infarction	Stimulate	30983140
Nasal Polyps	Associate	14567719
Necrosis	Associate	38065913
Neoplasm Metastasis	Associate	30320389, 38065913
Neoplasm Metastasis	Stimulate	9605020
Neoplasms	Associate	10785229, 16519564, 17150964, 19937272, 24335925, 26703884, 28288584, 31273954, 32351985, 34725559, 36003383, 38065913, 8198961, 9192977
Neoplasms	Stimulate	16094523, 29320969
Nephritis	Associate	9150474
Neuroblastoma	Associate	8380955
Neurotoxicity Syndromes	Inhibit	33035696
Nevus	Associate	8669474
Nonsyndromic Deafness	Associate	27356075
Nonsyndromic sensorineural hearing loss	Associate	27356075
Orofacial Cleft 1	Associate	22143699, 9683588
Osteoarthritis	Associate	20041492
Ovarian Neoplasms	Associate	1586592, 32351985
Ovarian Neoplasms	Stimulate	18505915
Pancreatic Neoplasms	Associate	16036106, 16519564, 32867538
Pancreatitis	Associate	16519564
Pancreatitis Acute Necrotizing	Associate	9445116
Peri Implantitis	Associate	27058373
Pituitary Neoplasms	Associate	9250163
Polycythemia Vera	Associate	35427808
Pre Eclampsia	Associate	18156205
Preeclamptic toxemia	Stimulate	18156205
Preeclamptic toxemia	Associate	36006052
Prostatic Hyperplasia	Associate	37781794
Prostatic Neoplasms	Associate	22678424, 37781794, 38065913
Prostatitis	Associate	38065913
Protein Energy Malnutrition	Associate	38017491
Pulmonary Disease Chronic Obstructive	Associate	20075389
Pulmonary Disease Chronic Obstructive	Inhibit	29289685
Raynaud Disease	Associate	10700426
Renal Insufficiency Chronic	Associate	24516231, 38017491, 8840277
Retinal Detachment	Stimulate	26015767
Rhabdomyosarcoma	Associate	8380955
Sarcoidosis	Associate	21148227
Shwachman Diamond Syndrome	Associate	31211692
Small Cell Lung Carcinoma	Associate	8388229
Stomach Neoplasms	Associate	27315569
Tertiary Lymphoid Structures	Associate	26703884
Tertiary Lymphoid Structures	Stimulate	29320969
Ulcer	Associate	16427789
Urethral Neoplasms	Associate	36003383
Urinary Bladder Neoplasms	Associate	33184436, 36761744, 38422408, 9192977
Uterine Hemorrhage	Associate	36564776
Van der Woude syndrome	Associate	23949966
Varicose Ulcer	Associate	11710945

TGFB3 (transforming growth factor beta 3)