TGFB3 (transforming growth factor beta 3)

Gene

• Entrez ID: 7043
• Gene name: Transforming growth factor beta 3
• Gene symbol: TGFB3
• Synonyms (NCBI Gene): ARVD, ARVD1, LDS5, RNHF, TGF-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

SNPs

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

miRNA

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 assay, qRT-PCR	23354167
MIRT000095	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT734385	hsa-miR-365a-3p	qRT-PCR, ELISA	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

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Activation	16611863
HIF1A	Repression	10831118

Gene ontology (GO)

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

Other IDs

• MIM: 190230
• HGNC: 11769
• e!Ensembl: ENSG00000119699

Protein

• UniProt ID: 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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arrhythmogenic right ventricular dysplasia 1	Pathogenic; Likely pathogenic	rs2035295129, rs1060502827, rs767548724, rs1555360047, rs2035287906	RCV001333115 RCV002481450 RCV002060544 RCV002499009 RCV004813705	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental disorder	Likely pathogenic; Pathogenic	rs1060502827	RCV003126747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz syndrome	Likely pathogenic; Pathogenic	rs1060502826, rs1555360229	RCV004017991 RCV005431682 RCV005418216	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rienhoff syndrome	Likely pathogenic; Pathogenic	rs2035180096, rs2140236217, rs2140254449, rs2140245186, rs2140240223, rs2140236210, rs2140246004, rs2140245836, rs587777617, rs1060502826, rs2504111963, rs875989816, rs796051885, rs875989817, rs1566679646, rs2504102788, rs2504102877, rs2503023856, rs2503024114, rs2504099601, rs2504093853, rs2504099767, rs2504110379, rs2504110410, rs2504093512, rs2504111590, rs2035287277, rs2504111670, rs2504111668, rs1057523647, rs1060502827, rs1555361385, rs1555360027, rs1555360368, rs1555360883, rs1555360229, rs1555360222, rs767548724, rs1555360047, rs1555360362, rs1566682530, rs1248127840, rs2035418540, rs2035287906, rs398122984	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TGFB3-related connective tissue disorders	Likely pathogenic	rs2035294180	RCV001270824	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TGFB3-related disorder	Likely pathogenic	rs2503023741, rs2503023915	RCV003404214 RCV003414385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Collapse (finding)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY OF RESPIRATORY SYSTEM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary disorder of connective tissue	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOEYS-DIETZ SYNDROME 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOEYS-DIETZ SYNDROME 5	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ventricular contraction	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	24380766	Stimulate	★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	25313366	Stimulate	★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	29623491		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	12733956	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	25835445	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	26184463		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	36356561	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	19897194, 25835445		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	25835445	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	29227539	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	11095982, 12529708, 15194193, 20031617, 21267716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	25445213	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	25835445		★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	8589694		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20041492	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35774789	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24056369		★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	26915797		★☆☆☆☆ Found in Text Mining only
Bamforth syndrome	Bamforth-Lazarus syndrome	BEFREE	21177256		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	8973690, 9140123		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23835618		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1834933, 25257729, 8264630		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21527583, 24335925, 29320969, 33294922, 8264630	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30579251	Stimulate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	28288584	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	26703884	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23835618		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	18598833		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	8763422		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	9616289		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32344918	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	32344918	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25835445	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	22464821		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	12410804		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	12917766		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12021923		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	12021923		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23088614	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30355907		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	27058373	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	12733956, 28386053, 9683588	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	15965987, 16247549, 20170386, 23023602, 26151095		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	24738728, 30345304, 36901988, 9683588	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clubfoot	Clubfoot	Pubtator	25835445	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	11742810	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10416598		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27764793		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29504907	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	10235000		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11742810		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	11742810, 12651627	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	9923802	Stimulate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19997821, 29980690, 30031224, 30373381, 31648137		★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	15389255	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33287755	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24306208		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic Foot	LHGDN	12060054		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	9067916	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	9067916		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	29244857	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	23220729		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17150964		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	17150964	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30367890		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34725559	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	16820603, 23824657, 25835445		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	ORPHANET_DG	23824657, 25835445		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	29202780	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	11158066, 15139000, 16571622, 19700613, 21084396, 21703609, 22425196, 24825427, 26884457, 28875276, 30871768, 31843095		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28983617		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	BEFREE	25431043		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	33746571, 36835591	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	21348595		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25849941		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25849941	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	9067916	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	9150474	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	29227539	Associate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	LHGDN	17671384		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	16196383	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	11334464		★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	24306208		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18293167	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24091331		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	12733956		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29980690, 35377824	Stimulate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	26612435	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	26612435	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	10235000	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18293167	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	9067916	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	10785229, 15139000, 17222838, 19328471, 19700613, 21084396, 21703609, 22425196, 25596622, 27743697, 29525690, 29747655, 31843095, 35377824, 36771423	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	24825427, 30871768	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10907639	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31409774		★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Aortic Aneurysm Syndrome	Loeys-Dietz Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	GENOMICS_ENGLAND_DG	25835445		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	BEFREE	26184463, 29350460, 29392890		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LOEYS-DIETZ SYNDROME 4	Loeys-Dietz Syndrome	CLINVAR_DG	1631557, 22943793, 23824657, 24798638, 25835445, 26184463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Loeys-Dietz Syndrome, Type 1a	Loeys-Dietz Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	11413354	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17673689		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23977152	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27911796, 28929191		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27911796, 28929191		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27911796, 28052118, 28929191		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27911796, 28929191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1834933, 25257729, 8264630		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	18598833		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	9616289		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22716211, 29474521, 7522082		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27315569, 29858600		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23835618		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19656717, 24335925, 26703884, 29320969, 29474521, 30703597		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10416598		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29350460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	15695386, 7614683		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	8669474	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	30703597		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29051557		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	26768647		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26768647		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	26768647	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30983140		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30983140	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28062531		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	14567719	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	18059253		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	38065913	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11158066, 17150964, 19656717, 24788885, 26703884, 30703597, 31273954, 8253361, 9616289		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	30672442		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	8380955	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22796605		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CTD_human_DG	27356075		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23250756		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	21866112, 23237431		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	22143699, 9683588	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20041492	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31160913		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	9616289		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	1586592, 32351985	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18505915	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16036106, 16519564, 32867538	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	16519564	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Acute Necrotizing	Pancreatitis	Pubtator	9445116	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31600954		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	9250163	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35427808	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	20700755		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22716211, 29474521, 7522082, 9140123		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37781794	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22678424, 37781794, 38065913	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20075389	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29289685	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	GENOMICS_ENGLAND_DG	25835445		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	11884483, 16778279, 21148227		★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	10700426	Associate	★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30711446		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	18293167		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	26015767	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	8380955	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19818765		★☆☆☆☆ Found in Text Mining only
RIENHOFF SYNDROME	Loeys-Dietz syndrome	UNIPROT_DG	23824657		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RIENHOFF SYNDROME	Loeys-Dietz syndrome	GENOMICS_ENGLAND_DG	24798638, 25835445		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RIENHOFF SYNDROME	Loeys-Dietz syndrome	BEFREE	26184463		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RIENHOFF SYNDROME	Loeys-Dietz syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	30527883		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	16778279, 21148227		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21148227	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	31211692		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	8388229		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	8388229	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31436806		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27315569, 29858600		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27315569	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft palate	Submucosal cleft palate	BEFREE	22409215		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	29474521		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	17521752		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia-Absent Radius Syndrome	BEFREE	19028006		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12432546		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	10433915, 12651933, 20408761, 21177256, 21246652, 28604778, 31677482, 9988882		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33184436, 36761744, 38422408, 9192977	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	11158066, 15139000, 16571622, 19700613, 21084396, 21703609, 22425196, 24825427, 26884457, 27743697, 28875276, 29525690, 29970676, 30871768, 31843095		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van der woude syndrome	Pubtator	23949966	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only