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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10290
Gene name	Striated muscle enriched protein kinase
Gene symbol	SPEG
Synonyms (NCBI Gene)	APEG-1APEG1BPEGCNM5MYLK6SPEGalphaSPEGbeta
Chromosome	2
Chromosome location	2q35
Summary	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs79386296	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs375370312	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs529058423	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, genic downstream transcript variant
rs565137573	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant
rs587777673	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs587777674	ACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG>-	Pathogenic	Splice donor variant, genic downstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs587777675	CC>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, intron variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1575065895	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments
MIRT1383685	hsa-miR-1193	CLIP-seq
MIRT1383686	hsa-miR-1912	CLIP-seq
MIRT1383687	hsa-miR-1915	CLIP-seq
MIRT1383688	hsa-miR-3192	CLIP-seq
MIRT1383689	hsa-miR-339-3p	CLIP-seq
MIRT1383690	hsa-miR-3689a-3p	CLIP-seq
MIRT1383691	hsa-miR-3689c	CLIP-seq
MIRT1383692	hsa-miR-3713	CLIP-seq
MIRT1383693	hsa-miR-4436a	CLIP-seq
MIRT1383694	hsa-miR-4446-3p	CLIP-seq
MIRT1383695	hsa-miR-4675	CLIP-seq
MIRT1383696	hsa-miR-4685-5p	CLIP-seq
MIRT1383697	hsa-miR-4728-5p	CLIP-seq
MIRT1383698	hsa-miR-4741	CLIP-seq
MIRT1383685	hsa-miR-1193	CLIP-seq
MIRT2337567	hsa-let-7a	CLIP-seq
MIRT2337568	hsa-let-7b	CLIP-seq
MIRT2337569	hsa-let-7c	CLIP-seq
MIRT2337570	hsa-let-7d	CLIP-seq
MIRT2337571	hsa-let-7e	CLIP-seq
MIRT2337572	hsa-let-7f	CLIP-seq
MIRT2337573	hsa-let-7g	CLIP-seq
MIRT2337574	hsa-let-7i	CLIP-seq
MIRT2337575	hsa-miR-202	CLIP-seq
MIRT2337576	hsa-miR-3183	CLIP-seq
MIRT2337577	hsa-miR-4458	CLIP-seq
MIRT2337578	hsa-miR-4500	CLIP-seq
MIRT2337579	hsa-miR-4723-3p	CLIP-seq
MIRT2337580	hsa-miR-98	CLIP-seq
MIRT2395019	hsa-miR-138	CLIP-seq
MIRT2395020	hsa-miR-4456	CLIP-seq
MIRT2395019	hsa-miR-138	CLIP-seq
MIRT2631104	hsa-miR-3654	CLIP-seq
MIRT2631105	hsa-miR-3655	CLIP-seq
MIRT1383692	hsa-miR-3713	CLIP-seq
MIRT2631106	hsa-miR-4459	CLIP-seq
MIRT2631107	hsa-miR-4520a-3p	CLIP-seq
MIRT2631108	hsa-miR-4638-3p	CLIP-seq
MIRT2631109	hsa-miR-4646-3p	CLIP-seq
MIRT2631110	hsa-miR-642a	CLIP-seq
MIRT2631105	hsa-miR-3655	CLIP-seq
MIRT2631109	hsa-miR-4646-3p	CLIP-seq
MIRT2631110	hsa-miR-642a	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8663449
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	TAS	8663449
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	8663449
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042692	Process	Muscle cell differentiation	IBA
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
615950	16901	ENSG00000072195

Q15772

Protein name

Striated muscle preferentially expressed protein kinase (EC 2.7.11.1) (Aortic preferentially expressed protein 1) (APEG-1)

Protein function

Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.

PDB

1U2H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	43 → 125	Immunoglobulin I-set domain	Domain
PF07679	I-set	722 → 811	Immunoglobulin I-set domain	Domain
PF16650	SPEG_u2	812 → 868		Disordered
PF07679	I-set	869 → 959	Immunoglobulin I-set domain	Domain
PF07679	I-set	968 → 1058	Immunoglobulin I-set domain	Domain
PF07679	I-set	1064 → 1153	Immunoglobulin I-set domain	Domain
PF07679	I-set	1188 → 1277	Immunoglobulin I-set domain	Domain
PF07679	I-set	1390 → 1481	Immunoglobulin I-set domain	Domain
PF07679	I-set	1485 → 1574	Immunoglobulin I-set domain	Domain
PF00069	Pkinase	1601 → 1854	Protein kinase domain	Domain
PF07679	I-set	2584 → 2674	Immunoglobulin I-set domain	Domain
PF00069	Pkinase	2966 → 3218	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is preferentially expressed in striated muscle. Non-kinase form such as isoform 3 is predominantly expressed in the aorta. Isoform 3 appears to be expressed only in highly differentiated ASMC in normal vessel walls and down-r

Sequence

MQKARGTRGEDAGTRAPPSPGVPPKRAKVGAGGGAPVAVAGAPVFLRPLKNAAVCAGSDV
RLRVVVSGTPQPSLRWFRDGQLLPAPAPEPSCLWLRRCGAQDAGVYSCMAQNERGRASCE
AVLTVLEVGDSETAEDDISDVQGTQRLELRDDGAFSTPTGGSDTLVGTSLDTPPTSVTGT
SEEQVSWWGSGQTVLEQEAGSGGGTRRLPGSPRQAQATGAGPRHLGVEPLVRASRANLVG
ASWGSEDSLSVASDLYGSAFSLYRGRALSIHVSVPQSGLRREEPDLQPQLASEAPRRPAQ
PPPSKSALLPPPSPRVGKRSPPGPPAQPAATPTSPHRRTQEPVLPEDTTTEEKRGKKSKS
SGPSLAGTAESRPQTPLSEASGRLSALGRSPRLVRAGSRILDKLQFFEERRRSLERSDSP
PAPLRPWVPLRKARSLEQPKSERGAPWGTPGASQEELRAPGSVAERRRLFQQKAASLDER
TRQRSPASDLELRFAQELGRIRRSTSREELVRSHESLRATLQRAPSPREPGEPPLFSRPS
TPKTSRAVSPAAAQPPSPSSAEKPGDEPGRPRSRGPAGRTEPGEGPQQEVRRRDQFPLTR
SRAIQECRSPVPPPAADPPEARTKAPPGRKREPPAQAVRFLPWATPGLEGAAVPQTLEKN
RAGPEAEKRLRRGPEEDGPWGPWDRRGARSQGKGRRARPTSPELESSDDSYVSAGEEPLE
APVFEIPLQNVVVAPGADVLLKCIITANPPPQVSWHKDGSALRSEGRLLLRAEGERHTLL
LREARAADAGSYMATATNELGQATCAASLTVRPGGSTSPFSSPITSDEEYLSPPEEFPEP
GETWPRTPTMKPSPSQNRRSSDTGSKAPPTFKVSLMDQSVREGQDVIMSIRVQGEPKPVV
SWLRNRQPVRPDQRRFAEEAEGGLCRLRILAAERGDAGFYTCKAVNEYGARQCEARLEVR
AHPESRSLAVLAPLQDVDVGAGEMALFECLVAGPTDVEVDWLCRGRLLQPALLKCKMHFD
GRKCKLLLTSVHEDDSGVYTCKLSTAKDELTCSARLTVRPSLAPLFTRLLEDVEVLEGRA
ARFDCKISGTPPPVVTWTHFGCPMEESENLRLRQDGGLHSLHIAHVGSEDEGLYAVSAVN
THGQAHCSAQLYVEEPRTAASGPSSKLEKMPSIPEEPEQGELERLSIPDFLRPLQDLEVG
LAKEAMLECQVTGLPYPTISWFHNGHRIQSSDDRRMTQYRDVHRLVFPAVGPQHAGVYKS
VIANKLGKAACYAHLYVTDVVPGPPDGAPQVVAVTGRMVTLTWNPPRSLDMAIDPDSLTY
TVQHQVLGSDQWTALVTGLREPGWAATGLRKGVQHIFRVLSTTVKSSSKPSPPSEPVQLL
EHGPTLEEAPAMLDKPDIVYVVEGQPASVTVTFNHVEAQVVWRSCRGALLEARAGVYELS
QPDDDQYCLRICRVSRRDMGALTCTARNRHGTQTCSVTLELAEAPRFESIMEDVEVGAGE
TARFAVVVEGKPLPDIMWYKDEVLLTESSHVSFVYEENECSLVVLSTGAQDGGVYTCTAQ
NLAGEVSCKAELAVHSAQTAMEVEGVGEDEDHRGRRLSDFYDIHQEIGRGAFSYLRRIVE
RSSGLEFAAKFIPSQAKPKASARREARLLARLQHDCVLYFHEAFERRRGLVIVTELCTEE
LLERIARKPTVCESEIRAYMRQVLEGIHYLHQSHVLHLDVKPENLLVWDGAAGEQQVRIC
DFGNAQELTPGEPQYCQYGTPEFVAPEIVNQSPVSGVTDIWPVGVVAFLCLTGISPFVGE
NDRTTLMNIRNYNVAFEETTFLSLSREARGFLIKVLVQDRLRPTAEETLEHPWFKTQAKG
AEVSTDHLKLFLSRRRWQRSQISYKCHLVLRPIPELLRAPPERVWVTMPRRPPPSGGLSS
SSDSEEEELEELPSVPRPLQPEFSGSRVSLTDIPTEDEALGTPETGAATPMDWQEQGRAP
SQDQEAPSPEALPSPGQEPAAGASPRRGELRRGSSAESALPRAGPRELGRGLHKAASVEL
PQRRSPSPGATRLARGGLGEGEYAQRLQALRQRLLRGGPEDGKVSGLRGPLLESLGGRAR
DPRMARAASSEAAPHHQPPLENRGLQKSSSFSQGEAEPRGRHRRAGAPLEIPVARLGARR
LQESPSLSALSEAQPSSPARPSAPKPSTPKSAEPSATTPSDAPQPPAPQPAQDKAPEPRP
EPVRASKPAPPPQALQTLALPLTPYAQIIQSLQLSGHAQGPSQGPAAPPSEPKPHAAVFA
RVASPPPGAPEKRVPSAGGPPVLAEKARVPTVPPRPGSSLSSSIENLESEAVFEAKFKRS
RESPLSLGLRLLSRSRSEERGPFRGAEEEDGIYRPSPAGTPLELVRRPERSRSVQDLRAV
GEPGLVRRLSLSLSQRLRRTPPAQRHPAWEARGGDGESSEGGSSARGSPVLAMRRRLSFT
LERLSSRLQRSGSSEDSGGASGRSTPLFGRLRRATSEGESLRRLGLPHNQLAAQAGATTP
SAESLGSEASATSGSSAPGESRSRLRWGFSRPRKDKGLSPPNLSASVQEELGHQYVRSES
DFPPVFHIKLKDQVLLEGEAATLLCLPAACPAPHISWMKDKKSLRSEPSVIIVSCKDGRQ
LLSIPRAGKRHAGLYECSATNVLGSITSSCTVAVARVPGKLAPPEVPQTYQDTALVLWKP
GDSRAPCTYTLERRVDGESVWHPVSSGIPDCYYNVTHLPVGVTVRFRVACANRAGQGPFS
NSSEKVFVRGTQDSSAVPSAAHQEAPVTSRPARARPPDSPTSLAPPLAPAAPTPPSVTVS
PSSPPTPPSQALSSLKAVGPPPQTPPRRHRGLQAARPAEPTLPSTHVTPSEPKPFVLDTG
TPIPASTPQGVKPVSSSTPVYVVTSFVSAPPAPEPPAPEPPPEPTKVTVQSLSPAKEVVS
SPGSSPRSSPRPEGTTLRQGPPQKPYTFLEEKARGRFGVVRACRENATGRTFVAKIVPYA
AEGKRRVLQEYEVLRTLHHERIMSLHEAYITPRYLVLIAESCGNRELLCGLSDRFRYSED
DVATYMVQLLQGLDYLHGHHVLHLDIKPDNLLLAPDNALKIVDFGSAQPYNPQALRPLGH
RTGTLEFMAPEMVKGEPIGSATDIWGAGVLTYIMLSGRSPFYEPDPQETEARIVGGRFDA
FQLYPNTSQSATLFLRKVLSVHPWSRPSLQDCLAHPWLQDAYLMKLRRQTLTFTTNRLKE
FLGEQRRRRAEAATRHKVLLRSYPGGP

Sequence length

3267

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Myopathy, centronuclear, 5	Pathogenic; Likely pathogenic	rs768300296, rs587777672, rs587777673, rs587777674, rs587777675, rs1392086265, rs764429761, rs2545945941, rs1693624356, rs763704831, rs759644676, rs1575065895, rs1575201712	RCV003989738 RCV000133589 RCV000133590 RCV000133591 RCV000133592 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPEG-related congenital myopathy	Likely pathogenic	rs756056441, rs2545460807	RCV004587478 RCV004587607	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPEG-related disorder	Pathogenic	rs2545867076	RCV004731551	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant centronuclear myopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy, centronuclear, 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arteriosclerosis	Arteriosclerosis	LHGDN	15784173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	31625632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15784173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	ORPHANET_DG	25087613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive centronuclear myopathy	Centronuclear Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	29614691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29614691, 30412272, 32925938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	35563595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	25087613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	25087613, 28624463, 30412272, 31625632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	30412272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27729468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37130628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30566039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27729468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, CENTRONUCLEAR, 5	Myopathy	CLINGEN_DG	19118250, 25087613, 28624463, 29474540, 29614691, 30157964, 30412272		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, CENTRONUCLEAR, 5	Myopathy	UNIPROT_DG	25087613		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, CENTRONUCLEAR, 5	Myopathy	GENOMICS_ENGLAND_DG	25087613		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, CENTRONUCLEAR, 5	Myopathy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	ORPHANET_DG	25087613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	29614691, 30412272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35563595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	26578207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	26578207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	30412272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	32600451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Mucinous Adenocarcinoma	Ovarian adenocarcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37130628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	31625632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SPEG (striated muscle enriched protein kinase)