MYH11 (myosin heavy chain 11)

Gene

• Entrez ID: 4629
• Gene name: Myosin heavy chain 11
• Gene symbol: MYH11
• Synonyms (NCBI Gene): AAT4, FAA4, SMHC, SMMHC, SMMS-1, VSCM2
• Chromosome: 16
• Chromosome location: 16p13.11
• Summary: The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It f

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35035518	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61734198	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs61734199	C>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs111404182	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs111936548	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs112161189	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs112861184	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs113089286	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113154524	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs113363750	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign	Synonymous variant, coding sequence variant, missense variant
rs113577450	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs113696032	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs137988790	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant, missense variant
rs138977949	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs140267000	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs146388001	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs147447269	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Coding sequence variant, missense variant
rs147605116	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs150759461	G>A	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs182700462	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs184847335	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs185661462	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign	Coding sequence variant, missense variant
rs189193825	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200672270	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs201198815	C>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201831933	A>G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs201991156	C>G,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606901	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs267606902	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs370658839	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs371843272	AAAAGCA>A,C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs554607161	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs563865467	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs730880147	CTT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs749497185	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs758885290	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs771297865	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs773998062	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs774336703	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781085663	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786205435	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs794727439	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs794728672	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs797045725	TCCAGCTCTGTCTTTAGGGCCTCCAGCTCCTCGCCGAGGTCTCGCTTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795023	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555459260	T>C	Likely-pathogenic	Missense variant, initiator codon variant
rs1555554098	TGCACCTGCGCCTCCAGCTTCTTCTTCTTATGTTCCACCTCCTGCTTGGCCTGGCCCAGGACCCGCAGCTCC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1596904322	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT635063	hsa-miR-1182	HITS-CLIP	23824327
MIRT635062	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT635061	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT635060	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT635059	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT635057	hsa-miR-3666	HITS-CLIP	23824327
MIRT635058	hsa-miR-4295	HITS-CLIP	23824327
MIRT635056	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT635055	hsa-miR-1322	HITS-CLIP	23824327
MIRT635054	hsa-miR-1267	HITS-CLIP	23824327
MIRT635053	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT635052	hsa-miR-3135b	HITS-CLIP	23824327
MIRT635051	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT635050	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT635048	hsa-miR-3652	HITS-CLIP	23824327
MIRT635049	hsa-miR-4430	HITS-CLIP	23824327
MIRT635047	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT635046	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT635045	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT635044	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT635043	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT486507	hsa-miR-660-5p	PAR-CLIP	23592263
MIRT486506	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT486505	hsa-miR-4481	PAR-CLIP	23592263
MIRT486504	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT486503	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT486502	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT486501	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT486500	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT486499	hsa-miR-4488	PAR-CLIP	23592263
MIRT486498	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT486497	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT486495	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT486496	hsa-miR-4447	PAR-CLIP	23592263
MIRT486494	hsa-miR-4472	PAR-CLIP	23592263
MIRT486493	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT486492	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT486491	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT486490	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT486489	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT486488	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT486487	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT486486	hsa-miR-3689c	PAR-CLIP	23592263
MIRT486485	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT486484	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT486483	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT635063	hsa-miR-1182	HITS-CLIP	23824327
MIRT635062	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT635061	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT635060	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT635059	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT635057	hsa-miR-3666	HITS-CLIP	23824327
MIRT635058	hsa-miR-4295	HITS-CLIP	23824327
MIRT635056	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT635055	hsa-miR-1322	HITS-CLIP	23824327
MIRT635054	hsa-miR-1267	HITS-CLIP	23824327
MIRT635053	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT635052	hsa-miR-3135b	HITS-CLIP	23824327
MIRT635051	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT635050	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT635048	hsa-miR-3652	HITS-CLIP	23824327
MIRT635049	hsa-miR-4430	HITS-CLIP	23824327
MIRT635047	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT635046	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT635045	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT635044	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT635043	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT486507	hsa-miR-660-5p	PAR-CLIP	23592263
MIRT486506	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT486505	hsa-miR-4481	PAR-CLIP	23592263
MIRT486504	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT486503	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT486502	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT486501	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT486500	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT486499	hsa-miR-4488	PAR-CLIP	23592263
MIRT486498	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT486497	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT486495	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT486496	hsa-miR-4447	PAR-CLIP	23592263
MIRT486494	hsa-miR-4472	PAR-CLIP	23592263
MIRT486493	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT486492	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT486491	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT486490	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT486489	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT486488	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT486487	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT486486	hsa-miR-3689c	PAR-CLIP	23592263
MIRT486485	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT486484	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT486483	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT1168243	hsa-miR-21	CLIP-seq
MIRT1168244	hsa-miR-4731-5p	CLIP-seq
MIRT1168245	hsa-miR-578	CLIP-seq
MIRT1168246	hsa-miR-590-5p	CLIP-seq
MIRT1168247	hsa-miR-622	CLIP-seq
MIRT1168248	hsa-miR-629	CLIP-seq
MIRT1168249	hsa-miR-643	CLIP-seq
MIRT2048489	hsa-miR-1253	CLIP-seq
MIRT2048490	hsa-miR-140-3p	CLIP-seq
MIRT2048491	hsa-miR-325	CLIP-seq
MIRT2048492	hsa-miR-3649	CLIP-seq
MIRT2048493	hsa-miR-3934	CLIP-seq
MIRT2048494	hsa-miR-3978	CLIP-seq
MIRT2048495	hsa-miR-4464	CLIP-seq
MIRT2048496	hsa-miR-4748	CLIP-seq
MIRT2048497	hsa-miR-552	CLIP-seq
MIRT2048490	hsa-miR-140-3p	CLIP-seq
MIRT2277365	hsa-miR-3177-5p	CLIP-seq
MIRT2277366	hsa-miR-3650	CLIP-seq
MIRT2048493	hsa-miR-3934	CLIP-seq
MIRT2048497	hsa-miR-552	CLIP-seq
MIRT2454669	hsa-miR-122	CLIP-seq
MIRT2454670	hsa-miR-130a	CLIP-seq
MIRT2454671	hsa-miR-130b	CLIP-seq
MIRT2454672	hsa-miR-301a	CLIP-seq
MIRT2454673	hsa-miR-301b	CLIP-seq
MIRT2454674	hsa-miR-454	CLIP-seq
MIRT2454675	hsa-miR-593	CLIP-seq
MIRT2454669	hsa-miR-122	CLIP-seq
MIRT2454675	hsa-miR-593	CLIP-seq
MIRT2454675	hsa-miR-593	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KLF5	Unknown	12707992

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	19328794
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	IEA
GO:0005859	Component	Muscle myosin complex	TAS	7684189
GO:0006939	Process	Smooth muscle contraction	ISS
GO:0008307	Function	Structural constituent of muscle	IMP	16444274
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0030241	Process	Skeletal muscle myosin thick filament assembly	ISS
GO:0031032	Process	Actomyosin structure organization	IBA
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0042470	Component	Melanosome	IEA
GO:0048251	Process	Elastic fiber assembly	IMP	16444274
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0055013	Process	Cardiac muscle cell development	IMP	16444274
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 160745
• HGNC: 7569
• e!Ensembl: ENSG00000133392

Protein

• UniProt ID: P35749
• Protein name: Myosin-11 (Myosin heavy chain 11) (Myosin heavy chain, smooth muscle isoform) (SMMHC)
• Protein function: Muscle contraction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02736	Myosin_N	33 → 73	Myosin N-terminal SH3-like domain	Domain
  PF00063	Myosin_head	87 → 771	Myosin head (motor domain)	Domain
  PF01576	Myosin_tail_1	848 → 1928	Myosin tail	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles. {ECO:0000269|PubMed:16000639}.
• Sequence:

  MAQKGQLSDDEKFLFVDKNFINSPVAQADWAAKRLVWVPSEKQGFEAASIKEEKGDEVVV
  ELVENGKKVTVGKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLRERYFSGLIYTYSGL
  FCVVVNPYKHLPIYSEKIVDMYKGKKRHEMPPHIYAIADTAYRSMLQDREDQSILCTGES
  GAGKTENTKKVIQYLAVVASSHKGKKDTSITGELEKQLLQANPILEAFGNAKTVKNDNSS
  RFGKFIRINFDVTGYIVGANIETYLLEKSRAIRQARDERTFHIFYYMIAGAKEKMRSDLL
  LEGFNNYTFLSNGFVPIPAAQDDEMFQETVEAMAIMGFSEEEQLSILKVVSSVLQLGNIV
  FKKERNTDQASMPDNTAAQKVCHLMGINVTDFTRSILTPRIKVGRDVVQKAQTKEQADFA
  VEALAKATYERLFRWILTRVNKALDKTHRQGASFLGILDIAGFEIFEVNSFEQLCINYTN
  EKLQQLFNHTMFILEQEEYQREGIEWNFIDFGLDLQPCIELIERPNNPPGVLALLDEECW
  FPKATDKSFVEKLCTEQGSHPKFQKPKQLKDKTEFSIIHYAGKVDYNASAWLTKNMDPLN
  DNVTSLLNASSDKFVADLWKDVDRIVGLDQMAKMTESSLPSASKTKKGMFRTVGQLYKEQ
  LGKLMTTLRNTTPNFVRCIIPNHEKRSGKLDAFLVLEQLRCNGVLEGIRICRQGFPNRIV
  FQEFRQRYEILAANAIPKGFMDGKQACILMIKALELDPNLYRIGQSKIFFRTGVLAHLEE
  ERDLKITDVIMAFQAMCRGYLARKAFAKRQQQLTAMKVIQRNCAAYLKLRNWQWWRLFTK
  VKPLLQVTRQEEEMQAKEDELQKTKERQQKAENELKELEQKHSQLTEEKNLLQEQLQAET
  ELYAEAEEMRVRLAAKKQELEEILHEMEARLEEEEDRGQQLQAERKKMAQQMLDLEEQLE
  EEEAARQKLQLEKVTAEAKIKKLEDEILVMDDQNNKLSKERKLLEERISDLTTNLAEEEE
  KAKNLTKLKNKHESMISELEVRLKKEEKSRQELEKLKRKLEGDASDFHEQIADLQAQIAE
  LKMQLAKKEEELQAALARLDDEIAQKNNALKKIRELEGHISDLQEDLDSERAARNKAEKQ
  KRDLGEELEALKTELEDTLDSTATQQELRAKREQEVTVLKKALDEETRSHEAQVQEMRQK
  HAQAVEELTEQLEQFKRAKANLDKNKQTLEKENADLAGELRVLGQAKQEVEHKKKKLEAQ
  VQELQSKCSDGERARAELNDKVHKLQNEVESVTGMLNEAEGKAIKLAKDVASLSSQLQDT
  QELLQEETRQKLNVSTKLRQLEEERNSLQDQLDEEMEAKQNLERHISTLNIQLSDSKKKL
  QDFASTVEALEEGKKRFQKEIENLTQQYEEKAAAYDKLEKTKNRLQQELDDLVVDLDNQR
  QLVSNLEKKQRKFDQLLAEEKNISSKYADERDRAEAEAREKETKALSLARALEEALEAKE
  ELERTNKMLKAEMEDLVSSKDDVGKNVHELEKSKRALETQMEEMKTQLEELEDELQATED
  AKLRLEVNMQALKGQFERDLQARDEQNEEKRRQLQRQLHEYETELEDERKQRALAAAAKK
  KLEGDLKDLELQADSAIKGREEAIKQLRKLQAQMKDFQRELEDARASRDEIFATAKENEK
  KAKSLEADLMQLQEDLAAAERARKQADLEKEELAEELASSLSGRNALQDEKRRLEARIAQ
  LEEELEEEQGNMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSK
  LHEMEGAVKSKFKSTIAALEAKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVED
  ERKMAEQYKEQAEKGNARVKQLKRQLEEAEEESQRINANRRKLQRELDEATESNEAMGRE
  VNALKSKLRRGNETSFVPSRRSGGRRVIENADGSEEETDTRDADFNGTKASE

• Sequence length: 1972

Pathways

KEGG:

Virion - Lassa virus and SFTS virus
Vascular smooth muscle contraction
Tight junction
Regulation of actin cytoskeleton
Motor proteins
Cytoskeleton in muscle cells
Pathogenic Escherichia coli infection

Reactome:

Smooth Muscle Contraction
RHO GTPases activate PAKs

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
Abnormal left ventricle morphology	Likely pathogenic	rs1057518938	RCV000414859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic aneurysm, familial thoracic 4	Likely pathogenic; Pathogenic	rs2151259960, rs2151240720, rs2151219190, rs2151225126, rs2151244040, rs2151192622, rs2151219802, rs766136761, rs2151269056, rs2506094292, rs2506126021, rs8046180, rs2151260748, rs113989591, rs2506265794, rs2506177866, rs797045725, rs2506103419, rs113930991, rs911589242, rs2506578179, rs2506177078, rs2506177716, rs2506141454, rs1555554098, rs2506104244, rs566506678, rs2506444711, rs2506192228, rs397514037, rs1567692384, rs1596712899, rs2041090817, rs1439991530, rs2040998358, rs2041000390	RCV001814678 RCV002039117 RCV001895964 RCV001966399 RCV001951108 RCV001914128 RCV001963636 RCV002250131 RCV002250132 RCV002287211 RCV002468867 RCV001210362 RCV002604703 RCV002639999 RCV002828884 RCV002894146 RCV000194899 RCV003009596 RCV003046725 RCV003046579 RCV003154856 RCV003388263 RCV003515547 RCV003514177 RCV000015193 RCV003629324 RCV003630293 RCV003630676 RCV003630910 RCV003631007 RCV000550319 RCV000705664 RCV000696364 RCV000687071 RCV002259375 RCV001039458 RCV001049655 RCV001196926 RCV001219350	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic root aneurysm	Likely pathogenic	rs1057518938	RCV000414859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs397514037, rs1555459260	RCV003150197 RCV000613766 RCV002334385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megacystis, microcolon, hypoperistalsis syndrome	Likely pathogenic; Pathogenic	rs112534511	RCV001844380	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Pathogenic; Likely pathogenic	rs2151236178, rs112534511, rs2151244350, rs786205435, rs797045725, rs2506177078	RCV001449893 RCV003987893 RCV002279754 RCV001449889 RCV001449890 RCV003984888	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitral regurgitation	Likely pathogenic	rs1057518938	RCV000414859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Likely pathogenic	rs1057518938	RCV000414859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tricuspid regurgitation	Likely pathogenic	rs1057518938	RCV000414859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visceral myopathy 1	Likely pathogenic; Pathogenic	rs786205435	RCV000172830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Altered myosin contractile function	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic aneurysm	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic aneurysm, familial thoracic 6	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic dilatation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bicuspid aortic valve	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiovascular phenotype	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTESTINAL PSEUDO-OBSTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic intestinal pseudoobstruction	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aneurysm of ascending aorta	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME CLASSIC TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, classic type	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal and colonic dysmotility	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aortopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated thoracic aortic aneurysm	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joint hypermobility	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY 4 WITH MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Loeys-Dietz syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan syndrome	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYH11-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATENT DUCTUS ARTERIOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonic stenosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic aortic aneurysm or dissection	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICUSPID VALVE INSUFFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visceral myopathy 2	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yolk sac tumor	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	16276527, 26891877, 9156661		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15820957		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	15226186		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	11150605, 11455976, 15224374, 15674361, 17287858, 9067575, 9074414, 9234595		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	18206229, 27798625		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16;16)(P13;Q22)	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	18206229, 27798625		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	31353165, 9713991		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	10958941, 17571080, 18328953, 19215788, 21763633, 7858261, 9713991		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	CTD_human_DG	10958941		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	LHGDN	17571080		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	ORPHANET_DG	19357394		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	30742053		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18941465		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18941465		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15820957		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	28735486		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32966694, 33083483	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	32141441, 34244757	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm, Middle Cerebral Artery	Cerebral Artery Aneurysm	BEFREE	27367753		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	LHGDN	17666408		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic Aneurysm	Aortic Aneurysm	BEFREE	24842835, 28074631		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	30004237	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	34852854	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	21937134, 23099432, 26017485, 30526509, 40225146	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	27394642	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30004237		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic aneurysm, familial thoracic 4	Aortic Aneurysm	GENOMICS_ENGLAND_DG	16444274, 26888179		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic aneurysm, familial thoracic 4	Aortic Aneurysm	UNIPROT_DG	16444274		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic aneurysm, familial thoracic 4	Aortic Aneurysm	CLINVAR_DG	16444274, 17666408, 21937134, 27611364		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic aneurysm, familial thoracic 4	Aortic Aneurysm	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	22968129, 30526509, 31473177		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	27879251, 29494672		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	21698135, 21937134, 22968129, 28855619, 33083483, 34672437, 35078481, 40225146	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	33910387	Inhibit	★☆☆☆☆ 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
Arteriosclerosis	Arteriosclerosis	BEFREE	30089722, 30529831		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	19011151		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30089722, 30529831		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30529831	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Carcinoma	Breast Carcinoma	BEFREE	18796164, 9586906		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18796164	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26397772	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31024045	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31682178	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	22543060	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15820957, 18665825		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	15224374, 28735486, 30277115		★☆☆☆☆ Found in Text Mining only
Chronic intestinal pseudo-obstruction	Intestinal Pseudoobstruction	BEFREE	31389005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	28742206	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18391202, 18796164, 25227818, 29517504		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18391202		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18391202, 18796164, 18941465, 25227818, 30786729, 32953885, 39294858	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35885957	Associate	★☆☆☆☆ Found in Text Mining only
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	BEFREE	17182941, 17994018, 26381327		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10516764, 18796164, 21537931, 26079545, 31353165		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	30675029	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	31682178	Associate	★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	28742206	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic medial necrosis	Cystic medial necrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic medial necrosis of aorta	Cystic Medial Necrosis Of Aorta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic medial necrosis of aorta	Cystic Medial Necrosis Of Aorta	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	32966694	Associate	★☆☆☆☆ Found in Text Mining only
Descending aortic dissection	Descending aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	37873933	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33568476	Inhibit	★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	21698135, 22968129		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	16444274, 26381327, 30674723		★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	17666408, 21937134, 22968129, 27418595, 34672437	Associate	★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia 16	Dystonia	Pubtator	21275954, 23160462, 27843138, 35622005	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36702668	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36702668	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	15224374, 18024381	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	16276527, 17452259, 19215788, 21763633, 8847901, 9713991		★☆☆☆☆ Found in Text Mining only
Familial aortic dissection	Aortic Dissection	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	15998682, 16444274, 17666408, 21937134, 22511748, 22968129, 23099432, 25433566, 26056961, 27081537		★★★★☆ 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	30675029		★★★★☆ 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)
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	37480569	Associate	★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	Pubtator	29052298	Inhibit	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	GATA2 Deficiency	BEFREE	31624376		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	33934566	Stimulate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	38536014	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27418595	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22543060, 32037394, 35078481	Associate	★☆☆☆☆ Found in Text Mining only
Heart Neoplasm	Cardiac Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18941465		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	17666408	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30004237	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25433566, 30004237		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	31462596		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	31462596	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	24615040, 29115560	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28433851, 29115560		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	18391202		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28893210	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12481902, 14645432, 15156186, 15339697, 16670269, 16989659, 17145866, 17283131, 19901261, 20007544, 21263445, 23152542, 26796361, 27542261, 28475434, 29018080, 29427994, 29958106, 31624376, 7858261, 9074414, 9207416, 9609531, 9720717, 9721217		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12791658, 14736823, 16102112, 16670269, 19901261, 20060365, 21638519, 25079347, 29427994, 30742053, 30850577, 31896782	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12745661, 12842988, 14736823, 15224374, 15226186, 15855281, 16630339, 18024381, 18796164, 19901261, 20589720, 21198299, 21494256, 21638519, 22228403, 22915647, 23160462, 23236551, 23878140, 25266220, 25786458, 28030795, 28253536, 29427994, 30728457, 30809981, 30850577, 31896782, 31899799, 32092139, 32419364, 33500364, 33836581, 34010414, 34117074, 34730684, 35622005, 35794567, 36011278, 36248800, 38084551, 40156426, 7780153, 7795233, 7858261, 7919348, 8739792, 9490670, 9834241	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	7858261	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10516764, 10590083, 10705822, 10800163, 10897121, 10958941, 10959099, 11167739, 11241787, 11355922, 11455976, 11697647, 11781223, 11896540, 12040450, 12139724, 12481902, 12745661, 12859999, 12895392, 14736823, 15075086, 15224374, 15269306, 15585652, 15606546, 15674361, 15815715, 15820957, 16199529, 16276527, 16393682, 16504290, 16643429, 16645213, 16989659, 17052753, 17145866, 17283131, 17287858, 17525718, 18422993, 18665825, 18796164, 18832181, 19215788, 19901261, 20625124, 20931398, 21198299, 21296419, 21494256, 21638519, 21763633, 21881046, 22228403, 23066397, 23115274, 23152542, 23160462, 24342433, 24487413, 25266220, 25635758, 25804769, 26796361, 27400753, 27542261, 27798625, 28253536, 28299658, 28299661, 28375434, 28735486, 28906004, 29958106, 30159599, 30814129, 30850577, 31186809, 31353165, 31624376, 7607682, 7780153, 7795233, 8751463, 8818654, 8847901, 9067575, 9074414, 9180286, 9234595, 9326197, 9489633, 9552061, 9586906, 9609531, 9632809, 9834241		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	18206229, 27798625		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	17287858		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18796164, 9586906		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18796164		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29517504		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11355922, 9834241		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	35052435	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mastocytosis, Systemic	Mastocytosis	BEFREE	22145956		★☆☆☆☆ Found in Text Mining only
Megacystis microcolon intestinal hypoperistalsis syndrome	Berdon syndrome	BEFREE	25407000, 31044419, 31427716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis microcolon intestinal hypoperistalsis syndrome	Berdon syndrome	ORPHANET_DG	25407000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis microcolon intestinal hypoperistalsis syndrome	Berdon syndrome	GENOMICS_ENGLAND_DG	25407000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis microcolon intestinal hypoperistalsis syndrome	Megacystis microcolon intestinal hypoperistalsis syndrome	Pubtator	25407000, 31427716, 33031641, 34672437, 40225146	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis-microcolon-intestinal hypoperistalsis syndrome	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcolon	Microcolon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29755956, 9326197		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	12496475		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15820957, 16203287, 21494256		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Necrosis	Necrosis	Pubtator	38013282	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12859999, 17283131, 18391202, 25578962, 31127628		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15147374, 15168592, 28567073		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	38115252	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31127628		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38084551	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	16444274, 17182941, 17666408, 22968129, 27418595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	LHGDN	17666408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penile hypospadias	Penile Hypospadias	BEFREE	31462596		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	LHGDN	18391202		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	18796164		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18796164		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18796164		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18796164, 34860853, 35799671	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	11439001		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	LHGDN	11439001		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	9326197		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	22133722		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	24711452		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27624754	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	34244757	Associate	★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	25407000	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	35622005	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29453416		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ureteral Obstruction	Urethral obstruction	Pubtator	38013282	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	25407000	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33184436, 36472061	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25786458	Associate	★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	CLINVAR_DG	25407000		★☆☆☆☆ Found in Text Mining only