ACTA1 (actin alpha 1, skeletal muscle)

Gene

• Entrez ID: 58
• Gene name: Actin alpha 1, skeletal muscle
• Gene symbol: ACTA1
• Synonyms (NCBI Gene): ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C, CMYP2A, CMYP2B, CMYP2C, MPFD, NEM1, NEM2, NEM3, SHPM
• Chromosome: 1
• Chromosome location: 1q42.13
• Summary: The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111812550	C>G,T	Pathogenic	Splice donor variant
rs112919437	T>C,G	Likely-pathogenic	Splice acceptor variant
rs121909519	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909520	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909521	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909522	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs121909523	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121909524	T>G	Pathogenic	Missense variant, coding sequence variant
rs121909525	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs121909526	G>C	Pathogenic	Missense variant, coding sequence variant
rs121909527	C>A	Pathogenic	Missense variant, coding sequence variant
rs121909528	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121909529	T>A	Pathogenic	Missense variant, coding sequence variant
rs121909530	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909531	G>A	Pathogenic	Missense variant, coding sequence variant
rs201823652	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs267606626	C>A	Pathogenic	Missense variant, coding sequence variant
rs267606627	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs367543048	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs367543049	C>T	Pathogenic	Missense variant, coding sequence variant
rs367543050	C>G	Pathogenic	Missense variant, coding sequence variant
rs367543051	C>T	Pathogenic	Missense variant, coding sequence variant
rs371410845	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs372686280	C>A,T	Likely-pathogenic	Splice donor variant
rs398122936	C>G	Pathogenic	Coding sequence variant, missense variant
rs398123562	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs398123563	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587777354	C>A	Pathogenic	Coding sequence variant, missense variant
rs587780271	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587780272	G>T	Pathogenic	Coding sequence variant, missense variant
rs727503797	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs748592740	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs753923758	->A	Pathogenic	Frameshift variant, coding sequence variant
rs759242559	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs768144106	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs794727488	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869312739	C>A	Pathogenic	Missense variant, coding sequence variant
rs878854374	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886039302	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs886039557	G>A	Pathogenic	Coding sequence variant, missense variant
rs1025502215	G>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs1057518493	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519311	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521117	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057521118	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521119	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057521120	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794287	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1064794652	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795075	GCCTCGG>ACCTCGA	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308014	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691728	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691941	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1211561143	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1301902450	T>A	Pathogenic	Splice acceptor variant
rs1435160117	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1553255288	A>G	Pathogenic	Stop lost, terminator codon variant
rs1553255293	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255301	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255354	C>G	Pathogenic	Coding sequence variant, missense variant
rs1553255357	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553255360	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255362	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1553255446	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255479	G>C	Pathogenic	Coding sequence variant, missense variant
rs1553255486	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255501	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255502	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553255506	A>C	Pathogenic	Coding sequence variant, missense variant
rs1553255521	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs1558081605	A>G	Pathogenic	Coding sequence variant, missense variant
rs1558081624	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1558081664	C>A,G	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs1558081804	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558082053	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1571892193	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571892196	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1571892209	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1571893319	T>C	Pathogenic	Coding sequence variant, missense variant
rs1571893383	G>T	Pathogenic	Coding sequence variant, missense variant
rs1571893783	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571893878	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571893885	T>C	Pathogenic	Coding sequence variant, missense variant
rs1571894217	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023513	hsa-miR-1-3p	Proteomics	18668040
MIRT037359	hsa-miR-877-5p	CLASH	23622248
MIRT550909	hsa-miR-3662	PAR-CLIP	21572407
MIRT550908	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT550907	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT550906	hsa-miR-5688	PAR-CLIP	21572407
MIRT550905	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT550904	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT550903	hsa-miR-4698	PAR-CLIP	21572407
MIRT550902	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT550901	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT550900	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT550899	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT550898	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT550897	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT550896	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT550895	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT550894	hsa-miR-4458	PAR-CLIP	21572407
MIRT550893	hsa-miR-4500	PAR-CLIP	21572407
MIRT550892	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550891	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT550890	hsa-miR-567	PAR-CLIP	21572407
MIRT550889	hsa-miR-569	PAR-CLIP	21572407
MIRT550888	hsa-miR-297	PAR-CLIP	21572407
MIRT550909	hsa-miR-3662	PAR-CLIP	21572407
MIRT550908	hsa-miR-1252-3p	PAR-CLIP	21572407
MIRT550907	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT550906	hsa-miR-5688	PAR-CLIP	21572407
MIRT550905	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT550904	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT550903	hsa-miR-4698	PAR-CLIP	21572407
MIRT550902	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT550901	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT550900	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT550899	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT550898	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT550897	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT550896	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT550895	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT550894	hsa-miR-4458	PAR-CLIP	21572407
MIRT550893	hsa-miR-4500	PAR-CLIP	21572407
MIRT550892	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550891	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT550890	hsa-miR-567	PAR-CLIP	21572407
MIRT550889	hsa-miR-569	PAR-CLIP	21572407
MIRT550888	hsa-miR-297	PAR-CLIP	21572407
MIRT2425914	hsa-let-7a	CLIP-seq
MIRT2425915	hsa-let-7b	CLIP-seq
MIRT2425916	hsa-let-7c	CLIP-seq
MIRT2425917	hsa-let-7d	CLIP-seq
MIRT2425918	hsa-let-7e	CLIP-seq
MIRT2425919	hsa-let-7f	CLIP-seq
MIRT2425920	hsa-let-7g	CLIP-seq
MIRT2425921	hsa-let-7i	CLIP-seq
MIRT2425922	hsa-miR-202	CLIP-seq
MIRT2425923	hsa-miR-98	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Activation	15623502
FOS	Unknown	1460048
JUN	Unknown	1460048
SRF	Unknown	15623502

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001725	Component	Stress fiber	IBA
GO:0001725	Component	Stress fiber	IDA	15198992
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	10508519
GO:0005515	Function	Protein binding	IPI	12849983, 18835984, 28514442, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	10508519
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005865	Component	Striated muscle thin filament	IBA
GO:0005865	Component	Striated muscle thin filament	IDA	15198992
GO:0005884	Component	Actin filament	IBA
GO:0005884	Component	Actin filament	IDA	12849983
GO:0006936	Process	Muscle contraction	TAS	10508519
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IMP	15198992
GO:0016787	Function	Hydrolase activity	IEA
GO:0017022	Function	Myosin binding	TAS	10508519
GO:0030017	Component	Sarcomere	IDA	1423520
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	ISS
GO:0030240	Process	Skeletal muscle thin filament assembly	IBA
GO:0030240	Process	Skeletal muscle thin filament assembly	IMP	11333380
GO:0043531	Function	ADP binding	TAS	10508519
GO:0044297	Component	Cell body	ISS
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048741	Process	Skeletal muscle fiber development	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708, 21362503, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090131	Process	Mesenchyme migration	ISS

Other IDs

• MIM: 102610
• HGNC: 129
• e!Ensembl: ENSG00000143632

Protein

• UniProt ID: P68133
• Protein name: Actin, alpha skeletal muscle (EC 3.6.4.-) (Alpha-actin-1) [Cleaved into: Actin, alpha skeletal 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.
• PDB: 7RNS, 7RNU, 7RNV, 9DUU, 9DUV
• Family and domains:

  Pfam

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

• Sequence:

  MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
  QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
  MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
  DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
  SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
  MSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIT
  KQEYDEAGPSIVHRKCF

• Sequence length: 377

Pathways

KEGG:

Motor proteins
Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

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
ACTA1 gene related myopathy	Pathogenic	rs1057521117	RCV000755047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACTA1-related disorder	Likely pathogenic; Pathogenic	rs727503797, rs2527437313, rs1180279387, rs759242559, rs1558081664	RCV003416868 RCV003419069 RCV003391608 RCV004754450 RCV005870809	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACTA1-related myopathies	Likely pathogenic; Pathogenic	rs2102735014, rs121909519, rs121909523, rs1553255362	RCV001733824 RCV001731311 RCV001270724 RCV005250062	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Actin accumulation myopathy	Likely pathogenic; Pathogenic	rs1659975666, rs1553255312, rs1659974377, rs2102736562, rs2102735278, rs2102735854, rs2102736408, rs1659979809, rs2102735038, rs1435160117, rs587777354, rs2102735904, rs2102735950, rs2102735175, rs1659975786, rs794727488, rs2102736194, rs2102736554, rs2102735630, rs2102736312, rs2102735031, rs2102735270, rs2102736416, rs1395648272, rs1571892988, rs2102736219, rs2527437709, rs2527440117, rs2527437067, rs121909524, rs2527436174, rs2527436326, rs869312739, rs121909525, rs2527439378, rs886039557, rs398123563, rs371410845, rs1558081624, rs2527437761, rs2527437890, rs2527440009, rs2527436311, rs2527438844, rs1175339508, rs367543049, rs1571892703, rs1659985552, rs2527439193, rs2527437138, rs2527439036, rs1659980721, rs2527439205, rs2527435672, rs2527437435, rs2527437109, rs121909519, rs121909520, rs121909521, rs121909522, rs121909523, rs121909526, rs121909527, rs121909528, rs121909529, rs121909531, rs1057519311, rs1057521120, rs1057521119, rs1057520216, rs1057521118, rs1057521117, rs1064794287, rs759242559, rs1064794652, rs1085308014, rs1553255293, rs1553255357, rs201823652, rs1553255534, rs1553255482, rs1553255444, rs1553255486, rs1553255502, rs1553255521, rs753923758, rs1553255301, rs372686280, rs1553255360, rs111812550, rs1553255432, rs1553255354, rs367543048, rs1553255479, rs1553255446, rs1553255288, rs1553255506, rs1057518493, rs1558081605, rs1558082053, rs1025502215, rs1558081384, rs1558081664, rs1301902450, rs1558081804, rs1571892209, rs1211561143, rs794727714, rs1571893145, rs1571893319, rs1571893814, rs1571894217, rs1571892193, rs1571893383, rs1571892196, rs1571893885, rs1571893878, rs1659944113, rs1659954003, rs768144106, rs1659973563, rs1659984269, rs1659953887, rs1659962016, rs772124885, rs1659978452, rs1659986226, rs1659975747, rs1659978909, rs398123562	RCV001330280 RCV001333759 RCV001333760 RCV001363241 RCV001387150 RCV001384934 RCV001388407 RCV001380871 RCV002032774 RCV001808988 RCV000115017 RCV001959680 RCV001999819 RCV001991129 RCV002007888 RCV001973415 RCV002035327 RCV002000054 RCV001946892 RCV002050787 RCV001956125 RCV001956127 RCV001949383 RCV001959102 RCV002248960 RCV002249226 RCV002664222 RCV002664224 RCV000550450 RCV002796062 RCV002833792 RCV002927858 RCV003055874 RCV001853353 RCV000558844 RCV003517448 RCV001217596 RCV001305261 RCV002519066 RCV005871136 RCV003333911 RCV003333912 RCV003333913 RCV003333918 RCV003333921 RCV004587486 RCV003333929 RCV006249401 RCV003333934 RCV003333939 RCV003992100 RCV003517890 RCV003518738 RCV003518739 RCV003518740 RCV003518837 RCV003516998 RCV003634948 RCV003635262 RCV003990887 RCV000019941 RCV000019942 RCV005016281 RCV000019944 RCV000019945 RCV000019947 RCV000019948 RCV003148622 RCV003148623 RCV001028007 RCV002513127 RCV000019954 RCV000415638 RCV002519526 RCV000802023 RCV002524743 RCV000555238 RCV000755047 RCV002525830 RCV001384035 RCV000679902 RCV000794669 RCV001857006 RCV001387151 RCV000544960 RCV000541948 RCV000537060 RCV000533758 RCV000527348 RCV000528006 RCV000560713 RCV000558312 RCV000543743 RCV000543487 RCV000535490 RCV000557960 RCV000541274 RCV000552290 RCV001253385 RCV000807360 RCV000693406 RCV000639666 RCV000639667 RCV000639668 RCV000639665 RCV000639669 RCV000698258 RCV000700123 RCV000691025 RCV000699186 RCV000707527 RCV000688041 RCV000702576 RCV000685030 RCV000754737 RCV000754736 RCV000819861 RCV000810378 RCV000820216 RCV000813903 RCV000805645 RCV000798724 RCV000810437 RCV000792251 RCV000796330 RCV000853386 RCV000853389 RCV003517274 RCV000986565 RCV000986566 RCV000986567 RCV001869389 RCV001038401 RCV001052411 RCV001038161 RCV001060207 RCV001048636 RCV001045609 RCV001047781 RCV001260935 RCV003989640 RCV001219997 RCV001219454 RCV001218151 RCV001223742 RCV001211040 RCV001232038 RCV001251237 RCV001251238 RCV000595451 RCV000578272	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha-actinopathy	Pathogenic; Likely pathogenic	rs1553255312, rs2102735278, rs2102735038, rs587777354, rs2102736554, rs398123563, rs371410845, rs2527439307, rs2527437890, rs2527438840, rs2527436130, rs121909524, rs121909526, rs121909528, rs121909531, rs121909522, rs1057520216, rs759242559, rs1085308014, rs1553255293, rs1553255521, rs1553255301, rs372686280, rs1553255354, rs1571893814, rs1571894217, rs1571892196, rs1571893878	RCV004995687 RCV006249754 RCV004813183 RCV004813058 RCV004813198 RCV005252852 RCV004813085 RCV005254771 RCV006249870 RCV005254773 RCV003389303 RCV005646762 RCV004813045 RCV005252691 RCV005252692 RCV004813046 RCV005252888 RCV004813100 RCV004992269 RCV004992281 RCV004813114 RCV004813113 RCV004813115 RCV004813127 RCV005253017 RCV004994034 RCV005430823 RCV004994170 RCV004813148 RCV005252738	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arthrogryposis multiplex congenita	Pathogenic	rs1057521117	RCV000855456	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Centronuclear myopathy	Likely pathogenic	rs2527438840	RCV003333923	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs121909525	RCV005931442	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital muscular dystrophy with rigid spine	Likely pathogenic	rs768144106	RCV000230128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy	Likely pathogenic; Pathogenic	rs1558081624, rs2527436164, rs2527437105, rs367543049, rs1571893814	RCV003333909 RCV003333919 RCV003333943 RCV005234924 RCV004586937	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myopathy 2b, severe infantile, autosomal recessive	Likely pathogenic; Pathogenic	rs1395648272, rs768144106, rs1429699993, rs1237221320, rs121909519, rs121909521, rs121909523, rs759242559	RCV003228040 RCV003221864 RCV003152503 RCV003152505 RCV003151730 RCV005016281 RCV003151732 RCV003223407	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myopathy 2c, severe infantile, autosomal dominant	Pathogenic; Likely pathogenic	rs2102736554, rs2527436292, rs2527436311, rs121909521, rs121909522, rs121909524, rs121909529, rs121909531, rs2527439145, rs1064794287, rs398122936, rs1558081664, rs2527437739	RCV003228037 RCV003152501 RCV005254772 RCV005016281 RCV003227607 RCV003151733 RCV003151734 RCV003151736 RCV004586459 RCV005001067 RCV003151741 RCV004587005 RCV003228209	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myopathy with fiber type disproportion	Likely pathogenic; Pathogenic	rs371410845, rs367543049, rs121909523, rs121909529, rs121909531, rs367543048, rs1558081664, rs1659962077	RCV001814140 RCV003333931 RCV002504811 RCV000019951 RCV000019953 RCV000034933 RCV000034934 RCV000995477 RCV001267703	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal akinesia	Likely pathogenic; Pathogenic	rs2527438844	RCV003333927	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence	Likely pathogenic; Pathogenic	rs2527438844	RCV003333926	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Pathogenic	rs1057521117	RCV000855456	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Likely pathogenic; Pathogenic	rs2527438980, rs2527436245	RCV003333915 RCV003333933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy	Likely pathogenic; Pathogenic	rs2527439307, rs1553255354, rs2527438840, rs142311664, rs2527437105, rs2527437313, rs2527438087, rs2527439283, rs1659975786, rs1659954132	RCV003333903 RCV003333920 RCV003333924 RCV003333940 RCV003333942 RCV004587490 RCV004587617 RCV004587621 RCV004587626 RCV004587641	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nemaline myopathy 2	Likely pathogenic; Pathogenic	rs1553255357	RCV003985088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy 3, autosomal dominant or recessive	Likely pathogenic; Pathogenic	rs587780271, rs587780272, rs1553255362	RCV000116220 RCV000116221 RCV000503736	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1553255362	RCV002274044	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromuscular disease	Pathogenic; Likely pathogenic	rs121909525, rs542109877, rs1659961434, rs2527438844, rs2527439085	RCV000217314 RCV003333910 RCV003333922 RCV003333925 RCV003333930	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-immune hydrops fetalis	Pathogenic	rs1246861211	RCV001376029	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs1558081624	RCV003333908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive scapulohumeroperoneal distal myopathy	Likely pathogenic; Pathogenic	rs2527438829, rs869312739, rs371410845, rs121909521, rs121909523, rs121909531, rs1057521120, rs1553255357, rs367543048, rs121909522	RCV002283813 RCV000210030 RCV001814140 RCV005016281 RCV002504811 RCV004767013 RCV005252891 RCV001813784 RCV001198948 RCV000664237	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the musculature	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET NEMALINE MYOPATHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER TYPE DISPROPORTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT	—	CTD, GenCC, HPO CTD, GenCC, HPO CTD, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy 4A, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EICHSFELD TYPE CONGENITAL MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial restrictive cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE NEMALINE MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intranuclear rod myopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIES, NEMALINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGID SPINE SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE CONGENITAL NEMALINE MYOPATHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPICAL NEMALINE MYOPATHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZEBRA BODY MYOPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Actin-Accumulation Myopathy	Nemaline myopathy	BEFREE	10508519, 20621480, 29328520		★☆☆☆☆ Found in Text Mining only
Actin-Accumulation Myopathy	Nemaline myopathy	ORPHANET_DG	10508519		★☆☆☆☆ Found in Text Mining only
Actin-Accumulation Myopathy	Nemaline myopathy	UNIPROT_DG	10508519, 11166164, 11333380, 15198992, 15236405, 15336687, 15520409, 16427282, 16945537, 17705262, 22442437, 23650303, 25938801		★☆☆☆☆ Found in Text Mining only
Actin-Accumulation Myopathy	Nemaline myopathy	GENOMICS_ENGLAND_DG	10508519, 16945537, 19562689, 20179953, 30266093		★☆☆☆☆ Found in Text Mining only
Actin-Accumulation Myopathy	Nemaline myopathy	CLINVAR_DG	12921789, 15226407, 15236405, 16945536, 19562689, 20303757, 21520333, 23394784, 2462510, 24642510, 24787270, 24852243, 25214167, 25470062, 26172852, 2617852, 27447704, 27854218		★☆☆☆☆ Found in Text Mining only
Actin-Accumulation Myopathy	Nemaline myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26988843	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	20333560, 33917771	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30654731		★☆☆☆☆ 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
Aortic Diseases	Aortic disease	Pubtator	28546218	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	35078481	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic valve disease	Pubtator	37500054	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17076892	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20628268	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15696078		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	16430780	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33710120	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	26992033	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	33681892	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	20962418		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	31422415		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28337446		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Myotubular Myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	35740900	Stimulate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	26967452	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	24696612	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	32969603	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	12401825, 32524367	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28952213	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28533055		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23474495, 27913195, 39732179	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26126114, 26431176, 26846996, 28272713, 28533055, 34651665, 35690734, 35743318, 37217880, 37222874	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	26968771	Stimulate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	32587575	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap Myopathy	BEFREE	20303757, 24095155		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21912905	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	26191305	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22732936, 23601182, 23940715, 27074018, 31969493, 32002283	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24386414	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24797069, 26219899, 35804329	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17965528, 19383239, 21674250, 24560559	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29115553	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32969603, 35757965	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	11583900	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35917599	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	GENOMICS_ENGLAND_DG	16945537, 23650303		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	28442786, 33274006	Stimulate	★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	26988843	Associate	★☆☆☆☆ Found in Text Mining only
Childhood-onset nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	23688168, 40676676	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	22569967	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21912905, 30355650, 33625532	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23298232, 24015033, 28412748, 35869338, 35870973, 36010567, 37369175	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	GENOMICS_ENGLAND_DG	10508519, 16945537, 20179953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	15468086, 17387733, 18300303, 20951040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	UNIPROT_DG	15468086, 17387733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fiber-type disproportion myopathy	Congenital myopathy with fiber type disproportion	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	25182138		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	10508519, 12921789, 18976909, 19562689, 20452215, 20850316, 21514153, 22825594, 23656990, 23784376, 25747004, 26172852		★☆☆☆☆ Found in Text Mining only
Congenital myopathy with excess of thin filaments	Congenital Myopathy With Excess Of Thin Filaments	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Contracture of hamstring(s)	Contracture Of Hamstring	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29339694	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	39199356	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32857885	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	39199356	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	35522303	Associate	★☆☆☆☆ Found in Text Mining only
Diaphyseal medullary stenosis with malignant fibrous histiocytoma	Diaphyseal bone disorder	Pubtator	12401825	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	22392407, 30937621	Associate	★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	28606400, 30732915		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	30987788	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	23292503, 30633751	Stimulate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	23992143, 24359029, 34270583	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11333380, 12601110, 15236405, 15468086, 16967490, 19562689, 23650303, 25890230, 26507755		★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	ORPHANET_DG	25182138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilic Esophagitis	Eosinophilia	Pubtator	26727658	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37254126	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27774712		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25478951	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26317904	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	11511791, 22460095	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	18334740, 24788122, 37170272	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	22460095	Inhibit	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	29739987	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25888334, 35078481	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	17600343, 18508359	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	8478016		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	25849742	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	20843116	Associate	★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	26968771	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	37986350	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	22452949	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11583900, 16945537, 21570694		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	15520409, 16945537, 21570694		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG	16945537, 23650303		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	16945537		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26968771, 27909731, 27941077, 28349784, 31234835, 38190128	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29769799	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37653539	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	15955241, 21103368, 22295148, 23755232, 29263297, 30709904, 33474654, 37798725	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25476248, 27107963, 31234835	Stimulate	★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	30654731		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intermediate nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	38382928	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31967978	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	10601118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23705901	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15334680, 20143336, 24966580, 26097586, 34481189	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	18508359	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	36982376	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	8305144	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	26097586, 30381493	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	19877031, 25476248, 34731044	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	15955241, 22710982	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	32602227, 34344444	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Obstructive	Lung disease	Pubtator	33710120	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24662457	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	11511791	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28533055		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25735936	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37884924	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32593227	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	37798364	Stimulate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	25913210, 27389816		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	11333380, 19562689, 25182138, 25938801, 30517146, 33397769, 33740643, 34157503, 34388489, 35728439, 35728440, 35757965, 35810298, 37265148, 37460656, 37986350, 40003902, 40147060	Associate	★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	10508519, 10619715, 11001821, 11166164, 11257471, 11333380, 11748499, 12601110, 12921789, 14733965, 15198992, 15236405, 15336687, 15564032, 16288873, 16427282, 16477620, 16945536, 16945537, 17387733, 18487519, 18976909, 19553116, 21570694, 22358459, 23305948, 23656990, 23977274, 24447884, 24852243, 25088345, 25913210, 25938801, 27105866, 27357517, 28017374, 28780987, 29274205, 29328520, 29731279, 30597051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	GENOMICS_ENGLAND_DG	10508519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathies, Nemaline	Myopathy	LHGDN	15236405, 15336687, 16427282, 16945536, 18461503		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	15072110, 16288873, 17705262, 19562689, 23736297, 25182138, 25747004, 25913210, 25938801, 27112274, 28416349, 28606400, 29731279, 30987788		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	LHGDN	15072110, 15520409		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy Central Core	Central core myopathy	Pubtator	25938801	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy, Actin, Congenital, With Cores	Myopathy, Actin, Congenital, With Cores	GENOMICS_ENGLAND_DG	19562689		★☆☆☆☆ Found in Text Mining only
Myopathy, Actin, Congenital, With Cores	Myopathy, Actin, Congenital, With Cores	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments	Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments	GENOMICS_ENGLAND_DG	19562689		★☆☆☆☆ Found in Text Mining only
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments	Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, SCAPULOHUMEROPERONEAL	Myopathy, Scapulohumeroperoneal	GENOMICS_ENGLAND_DG	25938801		★☆☆☆☆ Found in Text Mining only
MYOPATHY, SCAPULOHUMEROPERONEAL	Myopathy, Scapulohumeroperoneal	UNIPROT_DG	25938801		★☆☆☆☆ Found in Text Mining only
MYOPATHY, SCAPULOHUMEROPERONEAL	Myopathy, Scapulohumeroperoneal	ORPHANET_DG	25938801		★☆☆☆☆ Found in Text Mining only
MYOPATHY, SCAPULOHUMEROPERONEAL	Myopathy, Scapulohumeroperoneal	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, SCAPULOHUMEROPERONEAL	Myopathy, Scapulohumeroperoneal	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	19562689, 38142473	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28804222, 35682987	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24877105	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	31546153		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	31546153		★☆☆☆☆ Found in Text Mining only
Nemaline Myopathy, Childhood Onset	Nemaline myopathy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28533055		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28393230	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG	12921789, 15226407, 17227580, 19562689, 25470062, 25525159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	15236405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular disease	Pubtator	25735936	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular dysphagia	Neuromuscular dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	15198992		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	30001387, 32711434, 35381762, 37147960	Associate	★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	30654731		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32930132	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	12401825, 26028530	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	23549446		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35055018	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23940715, 25314063, 26844495	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	33893003	Stimulate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	28582460	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Benign Mucous Membrane	Benign mucous membrane pemphigoid	Pubtator	26569118	Associate	★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	12409665	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	19259356	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	26458343		★☆☆☆☆ Found in Text Mining only
Progressive scapulohumeroperoneal distal myopathy	Progressive Scapulohumeroperoneal Distal Myopathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24615813	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32413029, 33370412, 37929350	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21496259, 23937155, 36430467	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31427443, 34210319	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33710120	Inhibit	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	15468086		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rigid spine syndrome	Rigid spine muscular dystrophy	Pubtator	25182138	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rigid spine syndrome	Rigid Spine Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	25611270	Associate	★☆☆☆☆ Found in Text Mining only
Scapuloperoneal myopathy	Scapuloperoneal myopathy	BEFREE	25938801		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal myopathy	Scapuloperoneal myopathy	Pubtator	25938801	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	33028580	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	17907149, 26357964, 34344444, 34650102	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	34504485	Stimulate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31546153		★☆☆☆☆ Found in Text Mining only
Severe congenital nemaline myopathy	Congenital Nemaline Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Obstructive	Sleep apnea	Pubtator	26636516	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	38634365	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22392407, 27884164, 29207019, 30431092, 30937621, 32155325, 32524367, 32711434, 33383808, 35132271, 36510964, 37026609, 37077062, 37147960, 37541622, 39695576	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27699902, 32035062	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30937621		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12354798, 24322015, 25982683	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23918305, 27833974, 36242015	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	36834770	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	23705901	Stimulate	★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Typical nemaline myopathy	Nemaline myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ureteral Obstruction	Urethral obstruction	Pubtator	35443864	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	21251216	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	35662268	Stimulate	★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar Myopathy	BEFREE	30987788		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	34833374	Associate	★☆☆☆☆ Found in Text Mining only
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	32867785	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	26305530, 27586653, 32638535, 35579905, 39486365	Associate	★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
X-linked myopathy with excessive autophagy	Myopathy With Excessive Autophagy, X-Linked	BEFREE	30987788		★☆☆☆☆ Found in Text Mining only
Zebra body myopathy	Zebra Body Myopathy	BEFREE	25747004		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Zebra body myopathy	Zebra Body Myopathy	ORPHANET_DG	25747004		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Zebra body myopathy	Zebra Body Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations