Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	59
Gene name	Actin alpha 2, smooth muscle
Gene symbol	ACTA2
Synonyms (NCBI Gene)	ACTSASMDYS
Chromosome	10
Chromosome location	10q23.31
Summary	This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular co

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112602953	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs112901682	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121434526	G>A	Pathogenic	Missense variant, coding sequence variant
rs141933412	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Synonymous variant, coding sequence variant
rs199773697	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, synonymous variant
rs387906592	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515325	T>C	Pathogenic	Coding sequence variant, missense variant
rs397516683	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs746972765	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs762567614	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs772862676	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728019	T>C	Pathogenic	Missense variant, initiator codon variant
rs794728021	C>T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728025	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs869025352	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886039303	G>A	Pathogenic	Coding sequence variant, missense variant
rs1060500134	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064793016	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1254836237	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1554841843	A>C	Likely-pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT041870	hsa-miR-484	CLASH	23622248
MIRT763740	hsa-miR-128	CLIP-seq
MIRT763741	hsa-miR-147	CLIP-seq
MIRT763742	hsa-miR-181a	CLIP-seq
MIRT763743	hsa-miR-181b	CLIP-seq
MIRT763744	hsa-miR-181c	CLIP-seq
MIRT763745	hsa-miR-181d	CLIP-seq
MIRT763746	hsa-miR-27a	CLIP-seq
MIRT763747	hsa-miR-27b	CLIP-seq
MIRT763748	hsa-miR-3692	CLIP-seq
MIRT763749	hsa-miR-4262	CLIP-seq
MIRT763750	hsa-miR-4436a	CLIP-seq
MIRT763751	hsa-miR-4700-3p	CLIP-seq
MIRT763752	hsa-miR-513a-5p	CLIP-seq
MIRT763740	hsa-miR-128	CLIP-seq
MIRT763742	hsa-miR-181a	CLIP-seq
MIRT763743	hsa-miR-181b	CLIP-seq
MIRT763744	hsa-miR-181c	CLIP-seq
MIRT763745	hsa-miR-181d	CLIP-seq
MIRT763746	hsa-miR-27a	CLIP-seq
MIRT763747	hsa-miR-27b	CLIP-seq
MIRT1545058	hsa-miR-3133	CLIP-seq
MIRT1545059	hsa-miR-3148	CLIP-seq
MIRT763748	hsa-miR-3692	CLIP-seq
MIRT1545060	hsa-miR-3910	CLIP-seq
MIRT1545061	hsa-miR-3978	CLIP-seq
MIRT763749	hsa-miR-4262	CLIP-seq
MIRT763750	hsa-miR-4436a	CLIP-seq
MIRT1545062	hsa-miR-4493	CLIP-seq
MIRT1545063	hsa-miR-4511	CLIP-seq
MIRT763751	hsa-miR-4700-3p	CLIP-seq
MIRT763752	hsa-miR-513a-5p	CLIP-seq
MIRT763740	hsa-miR-128	CLIP-seq
MIRT763741	hsa-miR-147	CLIP-seq
MIRT763742	hsa-miR-181a	CLIP-seq
MIRT763743	hsa-miR-181b	CLIP-seq
MIRT763744	hsa-miR-181c	CLIP-seq
MIRT763745	hsa-miR-181d	CLIP-seq
MIRT763746	hsa-miR-27a	CLIP-seq
MIRT763747	hsa-miR-27b	CLIP-seq
MIRT763748	hsa-miR-3692	CLIP-seq
MIRT763749	hsa-miR-4262	CLIP-seq
MIRT763750	hsa-miR-4436a	CLIP-seq
MIRT763751	hsa-miR-4700-3p	CLIP-seq
MIRT763752	hsa-miR-513a-5p	CLIP-seq
MIRT763740	hsa-miR-128	CLIP-seq
MIRT763741	hsa-miR-147	CLIP-seq
MIRT763742	hsa-miR-181a	CLIP-seq
MIRT763743	hsa-miR-181b	CLIP-seq
MIRT763744	hsa-miR-181c	CLIP-seq
MIRT763745	hsa-miR-181d	CLIP-seq
MIRT763746	hsa-miR-27a	CLIP-seq
MIRT763747	hsa-miR-27b	CLIP-seq
MIRT1545058	hsa-miR-3133	CLIP-seq
MIRT1545059	hsa-miR-3148	CLIP-seq
MIRT763748	hsa-miR-3692	CLIP-seq
MIRT1545060	hsa-miR-3910	CLIP-seq
MIRT2425924	hsa-miR-3942-3p	CLIP-seq
MIRT1545061	hsa-miR-3978	CLIP-seq
MIRT763749	hsa-miR-4262	CLIP-seq
MIRT763750	hsa-miR-4436a	CLIP-seq
MIRT2425925	hsa-miR-4477a	CLIP-seq
MIRT1545062	hsa-miR-4493	CLIP-seq
MIRT1545063	hsa-miR-4511	CLIP-seq
MIRT763751	hsa-miR-4700-3p	CLIP-seq
MIRT2425926	hsa-miR-4789-3p	CLIP-seq
MIRT763752	hsa-miR-513a-5p	CLIP-seq

Transcription factor	Regulation	Reference
HEY1	Repression	18239137
HEY2	Repression	18239137

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001725	Component	Stress fiber	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IDA	11927518, 12355421, 17464107
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0014829	Process	Vascular associated smooth muscle contraction	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	ISS
GO:0030485	Component	Smooth muscle contractile fiber	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0044297	Component	Cell body	ISS
GO:0061870	Process	Positive regulation of hepatic stellate cell migration	IEA
GO:0061874	Process	Positive regulation of hepatic stellate cell contraction	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0072051	Process	Juxtaglomerular apparatus development	IEA
GO:0072144	Process	Glomerular mesangial cell development	IEP	17464107
GO:0090131	Process	Mesenchyme migration	ISS
GO:2000491	Process	Positive regulation of hepatic stellate cell activation	IEA

MIM	HGNC	e!Ensembl
102620	130	ENSG00000107796

P62736

Protein name

Actin, aortic smooth muscle (EC 3.6.4.-) (Alpha-actin-2) (Cell growth-inhibiting gene 46 protein) [Cleaved into: Actin, aortic smooth muscle, intermediate form]

Protein function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00022	Actin	4 → 377	Actin	Family

Sequence

MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF

Sequence length

377

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Vascular smooth muscle contraction	Smooth Muscle Contraction
Apelin signaling pathway	NOTCH4 Intracellular Domain Regulates Transcription
Motor proteins
Relaxin signaling pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (13)
ACTA2-related disorder	Pathogenic; Likely pathogenic	rs387906592, rs397516685, rs112901682	RCV004532396 RCV000778290 RCV004734613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
alterations of great arteries and veins	Pathogenic	rs387906592	RCV000415107	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic aneurysm, familial thoracic 2	Pathogenic	rs121434526	RCV000581791	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic aneurysm, familial thoracic 6	Likely pathogenic; Pathogenic	rs2133273980, rs112901682, rs2133261286, rs2133270221, rs794728025, rs112602953, rs794728021, rs111799340, rs878854466, rs886038978, rs746972765, rs772862676, rs886039303, rs2494570485, rs2494528886 View all (8 more)	RCV001362509 RCV001377371 RCV001795828 RCV001923663 RCV003633484 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs121434526, rs121434527	RCV005628228 RCV005628229	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Pathogenic	rs387906592	RCV000415107	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Descending aortic dissection	Pathogenic	rs2133256226	RCV002260546	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aortopathy	Likely pathogenic; Pathogenic	rs794728021, rs886039303, rs112901682	RCV000779683 RCV000780814 RCV004700355	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs112602953, rs794728021, rs112901682, rs886038978, rs746972765, rs772862676, rs886039303, rs121434526, rs121434527, rs121434528, rs387906592, rs869025352, rs397516685	RCV000608387 RCV000770644 RCV002372107 RCV002310910 RCV000771179 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated thoracic aortic aneurysm	Likely pathogenic; Pathogenic	rs397516685	RCV001374803	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moyamoya disease 5	Likely pathogenic; Pathogenic	rs112602953, rs746972765, rs121434527, rs121434528, rs387906592, rs112901682	RCV002485186 RCV004796132 RCV000022435 RCV000022436 RCV000022438 RCV004795340 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multisystemic smooth muscle dysfunction syndrome	Likely pathogenic; Pathogenic	rs112602953, rs746972765, rs886039303, rs387906592, rs112901682	RCV002485186 RCV004796132 RCV001265589 RCV000022437 RCV004795340 RCV001164780 RCV001267897 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thoracic aortic aneurysm or dissection	Likely pathogenic; Pathogenic	rs772862676	RCV005252843	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (40)
Aneurysm of descending aorta	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM, THORACIC	—	CTD	17994018	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arterial tortuosity	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	25330770	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, EXTRAHEPATIC	—	CTD, Disgenet CTD, Disgenet	28789951, 31932644	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	24292274	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	15059925	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aneurysm of ascending aorta	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue dysplasia	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COPPER-OVERLOAD CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	22879914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	20864642	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	33106285	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	19913069, 31697999	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	24239723, 24321339, 30097701, 32659284	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	11738102	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	19654303	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar GWAS catalog	19654303	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	19654303	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	19409525, 20970362	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	24358288	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	30818366	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	30639579	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLERODERMA, SYSTEMIC	—	CTD	24706986	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	19654303	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic aortic aneurysm	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26974007	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	28318631	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (233)
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23995859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	29111329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	30639579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	24293535, 24353327, 34244757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	29202781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angiopathy Hereditary With Nephropathy Aneurysms And Muscle Cramps	Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	Pubtator	32093627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm	Aortic Aneurysm	LHGDN	17994018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	21248741, 26637293, 34244757, 38486025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	22752479, 23099432, 24842835, 25225139, 26034244, 26637293, 28074631, 28883797, 29049801, 30526509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	22753406, 22978789, 23099432, 26017485, 29202781, 29300374, 30526509, 36053285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31553078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Familial Thoracic 2	Thoracic Aortic Aneurysm	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic Aneurysm, Familial Thoracic 6	Aortic Aneurysm	GENOMICS_ENGLAND_DG	17994018, 20734336, 26888179		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Aneurysm, Familial Thoracic 6	Aortic Aneurysm	CLINVAR_DG	17994018, 19409525, 19639654, 20734336, 21212136, 21248741, 21288906, 21733706, 21937134, 22752479, 22831780, 22946110, 24020716, 24243736, 24293535 View all (10 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Aneurysm, Familial Thoracic 6	Aortic Aneurysm	UNIPROT_DG	17994018, 19409525, 19639654		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Aneurysm, Familial Thoracic 6	Aortic Aneurysm	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Aneurysm, Thoracic	Aortic Aneurysm	CTD_human_DG	17994018		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	24020716, 24793577, 30526509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Thoracic	Aortic Aneurysm	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Thoracoabdominal	Aortic Aneurysm	CTD_human_DG	17994018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	19409525, 25759435, 27879251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	19409525, 25759435, 35896809, 38044429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	19409525, 21248741, 21288906, 21815248, 22753406, 22978789, 24243736, 25759435, 28652363, 28855619, 29202781, 31752940, 33083483, 35567597, 36053285, 38044429, 38486025 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	36007983	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	19409525, 22831780, 24293535, 24353327, 29300374, 33199432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30529831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30529831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30529831, 37377008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	17947298, 18400036, 25861618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	28883797, 29049801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28117838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28117838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30744595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	29591721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25330770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33929972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30744595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	19654303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32173982	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36319832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	10330430, 24736382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24736382, 26061005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	10330430, 24367596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	10330430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	36174041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	15671604, 15819894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	10330430, 16611632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36007983	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	38044429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	35567597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	19409525, 24293535, 24353327, 37794518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21248741, 24293535, 24353327, 27176728, 29202781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	22831780, 24243736, 26637293, 30300893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	22831780, 26637293, 28814167, 33199432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	CTD_human_DG	28789951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASDB_DG	24292274		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASCAT_DG	24292274		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clubfoot	Clubfoot	Pubtator	35292718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30786729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	BEFREE	19639654, 21937134, 27431987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	30278961, 31268349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	26061005, 28328125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	28808903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30762586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17001320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Copper-Overload Cirrhosis	Copper-Overload Cirrhosis	CTD_human_DG	22879914		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19409525, 21248741, 29202781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19409525, 21248741, 29202781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	19409525, 21248741, 24243736, 29202781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	26637293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19409525, 21248741, 29202781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	29591721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic medial necrosis of aorta	Cystic Medial Necrosis Of Aorta	BEFREE	29049801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28814667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33140399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	35567597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28672912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	24020716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	24243736, 25759435, 26034244, 28808903, 30674723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27666924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	22753406, 22790431, 22831780, 29300374, 35567597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	26458763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia lentis	Pubtator	34087854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	38013282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	29611032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35805203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	31323679		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28392898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28392898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	25644172, 35427808, 36007983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	11053242, 17994018, 19409525, 19639654, 20689142, 26153420, 27551047		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG	17994018, 19409525, 19639654, 20734336, 20970362, 21248741, 21733706, 22302747, 22752479, 23099432		★★★★★ ★★★★★ 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	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal megacystis	Fetal megacystis	BEFREE	22302747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	21553326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	24239723, 24321339, 30097701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27545991, 29160747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	20493835		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gillespie syndrome	Gillespie Syndrome	BEFREE	30242502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	26396484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29049801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30762586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	17611253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	29202781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	29591721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	20493835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35805203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	22831780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12222827, 15819894, 22643837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22643837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	31407397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37180146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23613326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32750409, 34209854	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	23613326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	29575632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	21815248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	24615040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19409525, 30079825, 30300893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	19956410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	19913069		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	37231028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	22752479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27545991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	24239723, 24321339, 30097701		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	35567597	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	Pubtator	30352845, 35726350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25999661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34166375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	34857515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25330770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28392898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	19654303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30466735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30744595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24264315, 28472177, 31351129, 31607564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25330770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25330770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25330770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	20354336	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan Syndrome	Marfan Syndrome	BEFREE	21248741, 24793577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	30352845	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34179721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28814667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	36901697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	27213335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	19409525, 20644152, 20970362, 22752479, 22831780, 25956231, 27128593, 27176728, 28814167, 29202781, 29591721, 30300893		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Moyamoya Disease	Moyamoya Disease	ORPHANET_DG	19409525, 20970362		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Moyamoya Disease	Moyamoya disease	Pubtator	19409525, 22753406, 22831780, 28652363, 29202781, 29591721, 35567597	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Moyamoya disease	Moyamoya Disease	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Moyamoya Disease	Moyamoya Disease	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Moyamoya disease 1	Moyamoya disease	BEFREE	19409525, 20970362, 22831780, 25956231, 27128593, 27176728, 28814167, 29202781, 30300893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	ORPHANET_DG	19409525, 20970362		★★★★★ ★☆☆☆☆ Found in Text Mining only
MOYAMOYA DISEASE 5	Moyamoya Disease	GENOMICS_ENGLAND_DG	17994018, 20734336, 26888179		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MOYAMOYA DISEASE 5	Moyamoya Disease	UNIPROT_DG	20970362		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MOYAMOYA DISEASE 5	Moyamoya Disease	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MOYAMOYA DISEASE 5	Moyamoya Disease	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	Multisystemic Smooth Muscle Dysfunction Syndrome	GENOMICS_ENGLAND_DG	17994018, 26888179		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	Multisystemic Smooth Muscle Dysfunction Syndrome	CLINVAR_DG	20734336, 20970362, 22302747, 22752479, 22831780, 22946110		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	Multisystemic Smooth Muscle Dysfunction Syndrome	ORPHANET_DG	20734336		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	Multisystemic Smooth Muscle Dysfunction Syndrome	UNIPROT_DG	20734336		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multisystemic smooth muscle dysfunction syndrome	Multisystemic Smooth Muscle Dysfunction Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	Multisystemic Smooth Muscle Dysfunction Syndrome	BEFREE	22790431, 24621862, 27567161, 28328125, 29202781, 29575632, 30242502, 30300893		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	11121445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24243736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	24358288		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	BEFREE	16288873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	38013282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Fibrosing Dermopathy	Nephrogenic Fibrosing Dermopathy	CTD_human_DG	20570839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	CTD_human_DG	30818366		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	LHGDN	17786474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30448260, 35412951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30466735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	22752479, 22790431, 25861618, 29300374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36438900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35427808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	29591721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24264315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	22302747, 24998021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	29300374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29497425		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	30639579		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Refractory anemias	Anemia	BEFREE	30760649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17001320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal infarction	Retinal infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30760649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	GWASCAT_DG	24292274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36508166, 36603607, 37180146, 37513656, 39696985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	19409525, 21248741, 24293535, 24353327, 29202781, 33199432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	CTD_human_DG	24706986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic Diseases	Thoracic disease	Pubtator	19409525, 35567597, 38044429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35896973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	34862858	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	38013282	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	22831780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30744595, 36131343, 36472061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19409525, 20130469, 20970362, 22946110, 27567161, 28343608, 31752940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	19409525, 22831780, 28652363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculopathy Retinal With Cerebral Leukodystrophy	Retinal vasculopathy with cerebral leukodystrophy	Pubtator	24293535, 24353327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wieacker syndrome	Wieacker syndrome	Pubtator	27070589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COL3A1	10	["Aortic aneurysm","Cholelithiasis","Liver cirrhosis","Connective tissue disease","Thoracic aortic aneurysm and aortic dissection","Liver disease","Marfan syndrome","Nephrosclerosis","Pulmonary fibrosis","Urethral obstruction"]	1	["Relaxin signaling pathway"]	15	["Disgenet (Aortic aneurysm)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Connective tissue disease)","Disgenet (Thoracic aortic aneurysm and aortic dissection)","CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)","Disgenet (Liver disease)","CTD (Liver disease)","CTD (Marfan syndrome)","CTD (Nephrosclerosis)","Disgenet (Nephrosclerosis)"]
MYLK	4	["Aortic aneurysm","Connective tissue disease","Thoracic aortic aneurysm and aortic dissection","Marfan syndrome"]	3	["Vascular smooth muscle contraction","Apelin signaling pathway","Smooth Muscle Contraction"]	10	["CTD (Aortic aneurysm)","Disgenet (Aortic aneurysm)","ClinVar (Aortic aneurysm)","HPO (Aortic aneurysm)","Disgenet (Connective tissue disease)","GenCC (Connective tissue disease)","ClinVar (Thoracic aortic aneurysm and aortic dissection)","Disgenet (Thoracic aortic aneurysm and aortic dissection)","Orphanet (Thoracic aortic aneurysm and aortic dissection)","CTD (Marfan syndrome)"]
MYH11	4	["Aortic aneurysm","Connective tissue disease","Thoracic aortic aneurysm and aortic dissection","Marfan syndrome"]	3	["Vascular smooth muscle contraction","Motor proteins","Smooth Muscle Contraction"]	9	["CTD (Aortic aneurysm)","Disgenet (Aortic aneurysm)","ClinVar (Aortic aneurysm)","HPO (Aortic aneurysm)","Disgenet (Connective tissue disease)","ClinVar (Thoracic aortic aneurysm and aortic dissection)","Disgenet (Thoracic aortic aneurysm and aortic dissection)","Orphanet (Thoracic aortic aneurysm and aortic dissection)","CTD (Marfan syndrome)"]
CCN2	6	["Cholelithiasis","Liver cirrhosis","Focal glomerulosclerosis","Pulmonary fibrosis","Scleroderma","Systemic sclerosis"]	1	["Apelin signaling pathway"]	9	["CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Focal glomerulosclerosis)","CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)","CTD (Pulmonary fibrosis)","Disgenet (Pulmonary fibrosis)","CTD (Scleroderma)","Disgenet (Systemic sclerosis)"]
MFAP5	4	["Aortic aneurysm","Connective tissue disease","Thoracic aortic aneurysm and aortic dissection","Marfan syndrome"]	0	[]	8	["CTD (Aortic aneurysm)","Disgenet (Aortic aneurysm)","ClinVar (Aortic aneurysm)","HPO (Aortic aneurysm)","Disgenet (Connective tissue disease)","Disgenet (Thoracic aortic aneurysm and aortic dissection)","Orphanet (Thoracic aortic aneurysm and aortic dissection)","CTD (Marfan syndrome)"]

ACTA2 (actin alpha 2, smooth muscle)

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