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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	4633
Gene name	Myosin light chain 2
Gene symbol	MYL2
Synonyms (NCBI Gene)	CMH10MFM12MLC-2MLC-2s/vMLC-2vMLC2
Chromosome	12
Chromosome location	12q24.11
Summary	Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventr

Show/Hide all (31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894363	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-pathogenic	Coding sequence variant, missense variant
rs104894368	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs104894369	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs104894370	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs111373423	A>G	Pathogenic	Splice donor variant
rs121913658	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs143139258	T>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs199474808	G>A,T	Likely-benign, uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs199474813	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic, likely-pathogenic	Splice acceptor variant
rs199474814	C>T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs375703502	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397516398	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs397516399	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397516406	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs397516407	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397516408	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs547860537	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587782965	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503296	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504425	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880944	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880947	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880948	C>A	Pathogenic	Splice donor variant
rs730880950	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880952	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs751392310	CCT>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs786205430	G>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs863225117	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555258369	C>T	Likely-pathogenic, uncertain-significance	Missense variant, initiator codon variant
rs1566147422	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592798444	TTCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048671	hsa-miR-99a-5p	CLASH	23622248
MIRT736741	hsa-miR-124-3p	qRT-PCR	32727232
MIRT1168601	hsa-miR-3675-5p	CLIP-seq
MIRT1168602	hsa-miR-4691-3p	CLIP-seq
MIRT1168603	hsa-miR-4694-3p	CLIP-seq
MIRT1168604	hsa-miR-4717-3p	CLIP-seq
MIRT1168605	hsa-miR-486-3p	CLIP-seq
MIRT1168606	hsa-miR-522	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002026	Process	Regulation of the force of heart contraction	ISS
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003785	Function	Actin monomer binding	IDA	9180271
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	11102452
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11773029, 16555005, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	17043135
GO:0005856	Component	Cytoskeleton	TAS	8673105
GO:0006942	Process	Regulation of striated muscle contraction	TAS	8673105
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008307	Function	Structural constituent of muscle	IMP	23365102, 32453731
GO:0008307	Function	Structural constituent of muscle	NAS	17885681
GO:0008307	Function	Structural constituent of muscle	TAS	8673105
GO:0009791	Process	Post-embryonic development	IEA
GO:0015629	Component	Actin cytoskeleton	IDA	17043135
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	TAS	11102452
GO:0030016	Component	Myofibril	IBA
GO:0030016	Component	Myofibril	IEA
GO:0030016	Component	Myofibril	NAS	8287067
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030308	Process	Negative regulation of cell growth	IMP	15824735
GO:0031672	Component	A band	IEA
GO:0032036	Function	Myosin heavy chain binding	NAS	8287067
GO:0042694	Process	Muscle cell fate specification	IBA
GO:0042694	Process	Muscle cell fate specification	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0055003	Process	Cardiac myofibril assembly	IEA
GO:0055003	Process	Cardiac myofibril assembly	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	8673105
GO:0060047	Process	Heart contraction	IEA
GO:0060047	Process	Heart contraction	ISS
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0097512	Component	Cardiac myofibril	IDA	25771144
GO:0098735	Process	Positive regulation of the force of heart contraction	IEA
GO:0098735	Process	Positive regulation of the force of heart contraction	ISS

MIM	HGNC	e!Ensembl
160781	7583	ENSG00000111245

P10916

Protein name

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) (MLC-2v) (Cardiac myosin light chain 2) (Myosin light chain 2, slow skeletal/ventricular muscle isoform) (MLC-2s/v) (Ventricular myosin light chain 2)

Protein function

Contractile protein that plays a role in heart development and function (PubMed:23365102, PubMed:32453731). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm st

PDB

5TBY , 8ACT , 8G4L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00036	EF-hand_1	28 → 56	EF hand	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in type I muscle fibers. {ECO:0000269|PubMed:23365102, ECO:0000269|PubMed:32453731}.

Sequence

MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVN
VKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVR
EMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD

Sequence length

166

Interactions

View interactions

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)

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Likely pathogenic; Pathogenic	rs397516398, rs104894368, rs104894369, rs104894370, rs397516406, rs1592798444	RCV001799463 RCV001170438 RCV001798005 RCV005401284 RCV003486556 RCV000770388 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs104894368, rs104894369, rs104894370, rs199474815	RCV002354163 RCV000621867 RCV000246859 RCV005403722	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart disease	Pathogenic	rs2136767620	RCV001568358	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy with fiber type disproportion	Likely pathogenic	rs2071647433	RCV001507318	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Death in early adulthood	Likely pathogenic; Pathogenic	rs104894368	RCV000234985	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs587782965, rs727503296, rs2499805953, rs104894368, rs104894369, rs104894370, rs397516406	RCV000844710 RCV000151360 RCV002468910 RCV000768488 RCV000844711 RCV004806011 RCV000036408 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy 10	Likely pathogenic; Pathogenic	rs587782965, rs104894368, rs104894369, rs104894370, rs199474815, rs727504425	RCV000542482 RCV000015109 RCV000015111 RCV000015112 RCV001852571 RCV000639677 RCV000988908 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYL2-related disorder	Likely pathogenic; Pathogenic	rs104894368	RCV004532354	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Likely pathogenic; Pathogenic	rs104894370	RCV002504789	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs2136774043, rs587782965, rs104894369	RCV001825079 RCV000143928 RCV000157369	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (34)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, dilated, and heart failure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER TYPE DISPROPORTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Death in infancy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1S	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated restrictive cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACEREBRAL HEMORRHAGE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ventricular contraction	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (98)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	29378169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25412762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18948272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17885681, 23365102, 30605904, 31104103		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	22194935, 31127036, 35544052, 37967257	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	11812662	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30690923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	30690923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	16199542, 18411228, 21259275, 21896538, 22429680, 22857948, 25086479, 25342278, 27483260, 27841901, 28223422, 28771489, 29709087, 30681346, 30775854 View all (4 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	22112859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	21823217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	Cardiomyopathy	UNIPROT_DG	11102452, 12404107, 12707239, 12818575, 8673105, 9535554		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	Cardiomyopathy	CLINGEN_DG	11102452, 12404107, 12707239, 12818575, 15829506, 16076902, 16837010, 18987303, 21896538, 24111713, 25351510, 26497160, 27378946, 27532257, 7236212, 8316857, 8673105, 9535554 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	Cardiomyopathy	CLINVAR_DG	11748309, 12404107, 12668451, 12818575, 14594949, 16076902, 17606808, 19150977, 20855589, 21310275, 21723297, 23283745, 23365102, 23727233, 24111713 View all (9 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	Cardiomyopathy	GENOMICS_ENGLAND_DG	30681346		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	Cardiomyopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	21823217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	LHGDN	11748309		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	31101927, 9535554		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CTD_human_DG	9241277		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chagas Disease	Chagas disease	Pubtator	22543060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28013338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30846413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	29451818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	17541012		★★★★★ ★☆☆☆☆ 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	ORPHANET_DG	23365102		★★★★★ ★★☆☆☆ 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	BEFREE	17541012		★★★★★ ★☆☆☆☆ Found in Text Mining only
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 pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30307112		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15824735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	23364394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	23364394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25646370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25646370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23575436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	25825243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23601662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22469987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	25646370, 27181629	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29846751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22543060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	21259275	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30307112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32854392	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	26497160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	10948063, 11102452, 12404107, 12668451, 12818575, 14594949, 16076902, 16751284, 17606808, 18533079, 18929571, 20855589, 21723297, 21835320, 21896538 View all (10 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12404107, 15706574, 21425739, 23365102, 26497160, 29549657, 30365366, 30430732, 30796699, 31104103, 9535554		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	9527842		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	23365102, 29549657, 30365366, 30430732, 31104103, 9535554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	9527842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	30681346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypertrophic subaortic stenosis	Hypertrophic Subaortic Stenosis	CTD_human_DG	9241277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	26193381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29846751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27901489, 30391648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28013338		★★★★★ ★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	26193381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	29632305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23365102, 30365366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy Myosin Storage	Myosin storage myopathy	Pubtator	18411228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15824735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	31127036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26763873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obstructive asymmetric septal hypertrophy	Obstructive Asymmetric Septal Hypertrophy	CTD_human_DG	9241277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	1599878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37967257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15824735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	31315475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34596111	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	1599878		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37679666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular septal hypertrophy	Ventricular Septal Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MYL2 (myosin light chain 2)