SELENON (selenoprotein N)

Gene

• Entrez ID: 57190
• Gene name: Selenoprotein N
• Gene symbol: SELENON
• Synonyms (NCBI Gene): CFTD, CMYO3, CMYP3, MDRS1, RSMD1, RSS, SELN, SEPN1
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41284305	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121908182	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908184	A>G	Pathogenic	Initiator codon variant, missense variant
rs121908185	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121908186	G>C	Pathogenic	Missense variant, coding sequence variant
rs121908187	T>G	Pathogenic	Coding sequence variant
rs121908188	G>A,C	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139020143	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs141295085	->GAG	Conflicting-interpretations-of-pathogenicity	Inframe insertion, coding sequence variant
rs149623434	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs183272965	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199564797	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs199742668	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200128474	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201066183	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs368074297	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs368104077	->A	Pathogenic	Coding sequence variant, frameshift variant
rs368377980	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs377215510	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs398124360	G>T	Pathogenic	Splice donor variant
rs587776597	G>A	Pathogenic	Coding sequence variant
rs745886248	G>A,C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs747284477	G>T	Pathogenic	Stop gained, coding sequence variant
rs750138587	G>A	Likely-pathogenic	Splice acceptor variant
rs756927098	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs760063405	C>T	Pathogenic	Coding sequence variant, stop gained
rs773670891	GAGT>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs776738184	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs779162837	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs794727808	T>C	Pathogenic	Splice donor variant
rs794727976	G>T	Pathogenic	Coding sequence variant, stop gained
rs797044620	->GCCCCGCCGCGCAGCCTCCCGCGCCACCG	Pathogenic	Coding sequence variant, frameshift variant
rs797044621	->CGGCCGGGCC	Pathogenic	Coding sequence variant, frameshift variant
rs797045950	->CCT	Likely-pathogenic	Inframe insertion, coding sequence variant
rs866566089	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs886041584	C>T	Pathogenic	Coding sequence variant, stop gained
rs886041619	GGCCCGGCCGGGCCAACGCGGGCCG>-	Pathogenic	Frameshift variant, initiator codon variant
rs886041686	GTGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs960468382	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057517819	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1174570887	T>A,C,G	Pathogenic	Missense variant, initiator codon variant
rs1176143542	A>G	Likely-pathogenic	Splice acceptor variant
rs1269951927	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553120047	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553120055	->TGAGCAT	Pathogenic	Frameshift variant, coding sequence variant
rs1553120110	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1553120202	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553120678	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553198611	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1557813850	CAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGC>-	Pathogenic	Frameshift variant, initiator codon variant, 5 prime UTR variant
rs1557814050	C>T	Pathogenic	Stop gained, coding sequence variant
rs1572226578	CGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCC>-	Pathogenic	5 prime UTR variant, initiator codon variant, upstream transcript variant
rs1572226620	CCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAG>-	Pathogenic	5 prime UTR variant, initiator codon variant, upstream transcript variant
rs1572226744	->GGGCC	Pathogenic	Initiator codon variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT066278	hsa-miR-4293	HITS-CLIP	23824327
MIRT653963	hsa-miR-596	HITS-CLIP	23824327
MIRT653962	hsa-miR-1470	HITS-CLIP	23824327
MIRT653961	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653960	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT653959	hsa-miR-4469	HITS-CLIP	23824327
MIRT653958	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT653957	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT653955	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT653956	hsa-miR-4268	HITS-CLIP	23824327
MIRT653954	hsa-miR-4448	HITS-CLIP	23824327
MIRT653953	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT653952	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT653951	hsa-miR-7975	HITS-CLIP	23824327
MIRT653950	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653949	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT653948	hsa-miR-384	HITS-CLIP	23824327
MIRT066278	hsa-miR-4293	HITS-CLIP	23824327
MIRT653963	hsa-miR-596	HITS-CLIP	23824327
MIRT653962	hsa-miR-1470	HITS-CLIP	23824327
MIRT653961	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653960	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT653959	hsa-miR-4469	HITS-CLIP	23824327
MIRT653958	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT653957	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT653955	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT653956	hsa-miR-4268	HITS-CLIP	23824327
MIRT653954	hsa-miR-4448	HITS-CLIP	23824327
MIRT653953	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT653952	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT653951	hsa-miR-7975	HITS-CLIP	23824327
MIRT653950	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653949	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT653948	hsa-miR-384	HITS-CLIP	23824327
MIRT441909	hsa-miR-4506	PAR-CLIP	22100165
MIRT441908	hsa-miR-646	PAR-CLIP	22100165
MIRT441907	hsa-miR-2115-5p	PAR-CLIP	22100165
MIRT441906	hsa-miR-6762-5p	PAR-CLIP	22100165
MIRT441905	hsa-miR-6845-5p	PAR-CLIP	22100165
MIRT441904	hsa-miR-520a-5p	PAR-CLIP	22100165
MIRT441903	hsa-miR-525-5p	PAR-CLIP	22100165
MIRT441902	hsa-miR-3180-5p	PAR-CLIP	22100165
MIRT732270	hsa-miR-193a-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	27307030
MIRT732270	hsa-miR-193a-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	27307030

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002086	Process	Diaphragm contraction	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 18713863, 33961781
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12700173
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	IEA
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014816	Process	Skeletal muscle satellite cell differentiation	IEA
GO:0014834	Process	Skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	IEA
GO:0014858	Process	Positive regulation of skeletal muscle cell proliferation	IEA
GO:0014873	Process	Response to muscle activity involved in regulation of muscle adaptation	IEA
GO:0015882	Process	L-ascorbic acid transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019852	Process	L-ascorbic acid metabolic process	IEA
GO:0022614	Process	Membrane to membrane docking	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0033555	Process	Multicellular organismal response to stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0044091	Process	Membrane biogenesis	IEA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IEA
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IBA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0055074	Process	Calcium ion homeostasis	IBA
GO:0055074	Process	Calcium ion homeostasis	IMP	19557870
GO:0060314	Process	Regulation of ryanodine-sensitive calcium-release channel activity	IMP	18713863
GO:0061024	Process	Membrane organization	IEA
GO:0061061	Process	Muscle structure development	IEA
GO:0070509	Process	Calcium ion import	IEA
GO:0071313	Process	Cellular response to caffeine	IEA
GO:1902884	Process	Positive regulation of response to oxidative stress	IMP	19557870
GO:1990456	Process	Mitochondrion-endoplasmic reticulum membrane tethering	IEA

Other IDs

• MIM: 606210
• HGNC: 15999
• e!Ensembl: ENSG00000162430

Protein

• UniProt ID: Q9NZV5
• Protein name: Selenoprotein N (SelN)
• Protein function: [Isoform 2]: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase E
• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach. {ECO:0000269|PubMed:11528383, ECO:0000269|PubMed:12700173}.
• Sequence:

  MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAAR
  QELALKTLGTDGLFLFSSLDTDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQP
  QLPWLNUSSCLSLLRSTPAASCEEEELPPDPSEETLTIEARFQPLLPETMTKSKDGFLGV
  SRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRF
  YPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTAISDFYYTVMFRIHAEFQLSE
  PPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGASESSNMEVDIG
  YIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAARRLEV
  AMYPFKKVSYLPFTEAFDRAKAENKLVHSILLWGALDDQSCUGSGRTLRETVLESSPILT
  LLNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEMMICLPNGTVVHHINA
  NYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP

• Sequence length: 590

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
Abnormality of the musculature	Likely pathogenic	rs2124448112	RCV001814511	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft lip/palate	Likely pathogenic; Pathogenic	rs121908185	RCV005624672	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy 4A, autosomal dominant	Likely pathogenic; Pathogenic	rs2124454648, rs121908188, rs797045950, rs886041584	RCV003389337 RCV003224794 RCV003338457 RCV004767208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy with fiber type disproportion	Likely pathogenic; Pathogenic	rs121908184, rs368104077, rs121908188, rs797045950, rs886041686, rs199564797, rs1557813850, rs778603129	RCV002288464 RCV001353048 RCV000004754 RCV000192616 RCV001813775 RCV000791286 RCV000501710 RCV001732020	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eichsfeld type congenital muscular dystrophy	Likely pathogenic; Pathogenic	rs2047977957, rs377215510, rs2047928865, rs1333001112, rs2124450830, rs2124452873, rs2124454648, rs1192828749, rs758934983, rs752156505, rs2124436380, rs2124447526, rs2047850525, rs2124436429, rs2047929645, rs1174570887, rs2124448034, rs2524983904, rs2524994791, rs797044620, rs797044621, rs2047850396, rs2524953933, rs121908182, rs587776597, rs121908184, rs121908185, rs121908186, rs368104077, rs121908187, rs121908188, rs794727808, rs794727976, rs2524986843, rs797045950, rs1289523206, rs2524954033, rs911937146, rs774283170, rs777659233, rs2524981730, rs2524994638, rs886041686, rs886041619, rs199564797, rs2525005084, rs2524986424, rs2524954100, rs770106849, rs1557813850, rs1553120055, rs1553120110, rs1553120691, rs1553120047, rs779162837, rs960468382, rs1553198611, rs1553120202, rs1557814050, rs760063405, rs756927098, rs1572226744, rs1557814066, rs368074297, rs747284477, rs1572226578, rs1572226620, rs2047846279, rs778603129, rs745715484, rs2048015293, rs908682527, rs2047932848, rs775713184, rs1184282261, rs2047848157, rs2047931126, rs1005071009, rs2047936719	RCV001329141 RCV000792332 RCV001379243 RCV001379388 RCV001390083 RCV001388879 RCV003388845 RCV003485732 RCV002541163 RCV001933139 RCV001985309 RCV002007400 RCV002002358 RCV001920644 RCV001943491 RCV004596532 RCV002290859 RCV002281602 RCV003085918 RCV001248662 RCV000820386 RCV003115444 RCV003112082 RCV000004746 RCV000004747 RCV000004748 RCV000004749 RCV000004750 RCV000004751 RCV000004752 RCV000004753 RCV002516794 RCV002516827 RCV002815580 RCV002517132 RCV003025615 RCV003038643 RCV002789954 RCV002810021 RCV003153120 RCV003155881 RCV003223448 RCV001045576 RCV001381199 RCV000800896 RCV003230801 RCV003611020 RCV003611035 RCV003883428 RCV001060927 RCV001851178 RCV005869523 RCV001386658 RCV000545759 RCV000551007 RCV000541651 RCV000535222 RCV000799500 RCV000636857 RCV000636853 RCV000696370 RCV000698272 RCV000692095 RCV000761458 RCV001856153 RCV000814481 RCV000822846 RCV000823425 RCV000816417 RCV001046947 RCV001039378 RCV001036948 RCV001047138 RCV001039380 RCV001863086 RCV001377599 RCV001224095 RCV001214700 RCV001227309 RCV001229877 RCV001237547 RCV001251099	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs121908188	RCV005887294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Likely pathogenic; Pathogenic	rs121908185, rs2047932848	RCV001195543 RCV001195544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SELENON-related disorder	Pathogenic	rs368104077	RCV004757096	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SELENON-related myopathy	Likely pathogenic; Pathogenic	rs121908188, rs2047932848	RCV003993737 RCV003225961	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SEPN1-related disorder	Likely pathogenic; Pathogenic	rs121908185, rs121908188	RCV000778977 RCV000778235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC MULTIMINICORE MYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ 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
CONGENITAL MYOPATHY 3 WITH RIGID SPINE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG abnormality	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG: myopathic abnormalities	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joint laxity	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pain	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGID SPINE MUSCULAR DYSTROPHY 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGID SPINE SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	28323186, 31621039, 31756616		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	29429125		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29948768		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31106613		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	27888080, 27942937, 28146020, 28414745, 28538526, 28723878, 29615021, 30200098, 30986576, 31205184, 31574066		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29316959		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28132125, 31525469		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28132125, 31525469		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	29572169		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	28866740, 30010046, 30151783, 31325052, 31525469		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	28866740, 30010046, 30151783, 31325052, 31525469		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27760236, 28132125, 29087231, 30405459		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27760236, 27878739, 28132125, 28256099, 28639377, 28866740, 29520885, 29884819, 29951183, 30010046, 30151783, 31325052, 31342442, 31525469		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	27987063, 30405459, 30728928, 31351456		★☆☆☆☆ 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
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	20007505, 21863054, 23240093, 24322424		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	BEFREE	28629376		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30629227		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24278290		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27307030	Associate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap Myopathy	BEFREE	17885449		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26199857	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	29097132		★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	17631035, 21674524, 22784669		★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classic multiminicore myopathy	Multiminicore Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26438117		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35807897	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	30352209		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28890009, 30029956, 31835173		★☆☆☆☆ 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	CLINVAR_DG	12192640, 15668457, 16365872, 17951086, 23394784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	16365872, 18300303, 19953533, 20937510, 20951040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	UNIPROT_DG	16365872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	GENOMICS_ENGLAND_DG	16365872		★★☆☆☆ 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 hypoplasia of radius	Congenital Hypoplasia Of Radius	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	BEFREE	29462064		★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	11528383, 12192640, 12207930, 20937510, 25653289		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	GENOMICS_ENGLAND_DG	11528383		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	15792869, 16365872, 16498447, 20937510, 26780752, 30921636		★☆☆☆☆ Found in Text Mining only
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
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture of hamstring(s)	Contracture Of Hamstring	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	LHGDN	15668457		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31525469		★☆☆☆☆ Found in Text Mining only
Desmin-related myopathy with Mallory body-like inclusions	Desmin-Related Myopathy With Mallory Body-Like Inclusions	Orphanet			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	BEFREE	10545040, 11528383, 12192640, 12207930, 16365872, 16498447, 19067361, 19285112, 19557870, 19769461, 20225280, 23325319, 27473727, 27531051, 27863379, 30642275, 30921636		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	GENOMICS_ENGLAND_DG	11528383, 16365872, 23217329		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	UNIPROT_DG	11528383, 12192640, 15122708, 15668457, 18713863, 19067361		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	ORPHANET_DG	11528383		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	CLINVAR_DG	12192640, 15668457, 15792869, 16365872, 16779558, 17951086, 18713863, 19067361, 21131290, 21670436, 23394784, 27447704		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy	Epilepsy	BEFREE	30588604		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30588604		★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	BEFREE	17631035		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	26789268	Associate	★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture of hip	Flexion Contracture Of Hip	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	31342442		★☆☆☆☆ Found in Text Mining only
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	BEFREE	28437346		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29183682		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31157754		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31621039		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	29429125		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30843525		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27878739		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Hyperthermia	Malignant hyperthermia	Pubtator	35698232	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24278290		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28260130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	31525469		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28639377		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	BEFREE	12192640, 15122708, 15608948, 17204937, 17631035, 20937510, 22784669, 30932294		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25735936	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28516425		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	12192640, 15668457		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	BEFREE	15122708, 15792869, 16498447, 16779558, 16900928, 30642275		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	CTD_human_DG	17123513		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	BEFREE	15792869, 17204937, 17951086, 19067361, 19557870, 19905883, 20937510, 21670436, 22527882, 22784669, 24021317, 24098483, 25452428, 25808192, 26670690, 26780752, 26799446, 27531051, 28106121, 29624713, 30391828, 30921636, 30932294, 31130376		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_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, MYOSIN STORAGE (disorder)	Myosin storage myopathy	BEFREE	17885449		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	16498447, 26789268, 30932294	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28121913, 28292204, 29889256, 29952421, 31756616		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	31493607		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	27760236		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	28323186		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	19285112		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	25735936	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26438117, 31097084, 31226692		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28639377		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28121913		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	22615972		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	22527882, 23325319, 26780752, 27473727		★☆☆☆☆ Found in Text Mining only
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	BEFREE	3171557		★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rigid spine syndrome	Rigid spine muscular dystrophy	Pubtator	12192640, 16498447, 19067361, 27863379, 30642275	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rigid spine syndrome	Rigid Spine Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	10227403, 11718568, 12754712, 15234339, 18156438, 20007505, 21863054, 23240093, 24322424, 30152198		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28393745, 29921706		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	16365872, 17631035, 27541847, 27743204, 27748701, 27791706, 27888080, 28125524, 28146020, 28288920, 28414170, 28437346, 28489761, 28529002, 28538526, 28688984, 28727996, 28847551, 28988878, 29016433, 29037974, 29095407, 29095408, 29198598, 29215503, 29243973, 29316959, 29334774, 29462064, 29474440, 29501749, 29526641, 29570046, 29615021, 29624128, 29762275, 29974019, 30005048, 30010046, 30053523, 30142756, 30180148, 30234799, 30296577, 30797200, 30896585, 30921297, 30986575, 30986576, 31045663, 31075761, 31106613, 31125961, 31325052, 31361270, 31374000, 31389866, 31525469, 31574066, 31674249		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	26917434		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	BEFREE	28146020		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30843525		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	30877350		★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	28586956		★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
XX males	XX Males	BEFREE	19143733		★☆☆☆☆ Found in Text Mining only
Zebra body myopathy	Zebra Body Myopathy	BEFREE	17885449		★☆☆☆☆ Found in Text Mining only