EMD (emerin)

Gene

• Entrez ID: 2010
• Gene name: Emerin
• Gene symbol: EMD
• Synonyms (NCBI Gene): EDMD, LEMD5, STA
• Chromosome: X
• Chromosome location: Xq28
• Summary: Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting f

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894805	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894806	C>A	Pathogenic	Coding sequence variant, missense variant
rs132630262	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs137977232	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs139983160	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147920229	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs148515772	G>A	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs150757295	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs151074632	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs267606782	A>G	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs368661339	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs376456050	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123155	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398123156	ATGAAGAGAGCTACT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs398123157	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs398123158	A>G	Uncertain-significance, pathogenic	Splice acceptor variant
rs727503036	A>G	Pathogenic	Synonymous variant, splice acceptor variant, coding sequence variant
rs727504901	A>G	Likely-pathogenic	Splice acceptor variant
rs730880352	->TGGGC	Pathogenic	Frameshift variant, coding sequence variant
rs782011714	C>A,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, synonymous variant, coding sequence variant, stop gained
rs782057378	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs782061626	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs782222974	G>A,T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs782299893	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782367505	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs782452523	TCTAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs794729010	G>T	Pathogenic	Splice donor variant
rs876661345	->C	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886041854	C>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886044771	G>A	Pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant
rs886044901	C>A	Pathogenic	Stop gained, coding sequence variant
rs1057524848	T>A	Pathogenic	Coding sequence variant, stop gained
rs1060502612	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1064797380	G>A	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1557182198	CTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGC>-	Likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, splice donor variant
rs1557182214	G>T	Pathogenic	Splice donor variant
rs1557182286	TACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1557182301	->G	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1557182317	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1557182364	->AT	Pathogenic	Frameshift variant, coding sequence variant
rs1557182560	G>T	Pathogenic	Stop gained, coding sequence variant
rs1557182611	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557182654	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557182661	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1557182670	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557182676	->GGGGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557182692	TCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557182708	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569552076	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569552079	->A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1569552080	TCGAGTACGAGACCCAGAGGCGGCGGCT>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569552102	CCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569552106	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603365762	T>A	Likely-pathogenic	Coding sequence variant, splice donor variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022307	hsa-miR-124-3p	Microarray	18668037
MIRT023624	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT050333	hsa-miR-25-3p	CLASH	23622248
MIRT049830	hsa-miR-92a-3p	CLASH	23622248
MIRT046034	hsa-miR-125b-5p	CLASH	23622248
MIRT041790	hsa-miR-484	CLASH	23622248
MIRT040236	hsa-miR-615-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IDA	15328537
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11313760, 11587540, 12163176, 14597414, 15009215, 15328537, 15671068, 16169070, 16189514, 16858403, 17462627, 19323649, 19933576, 21346760, 21391237, 21610090, 22399800, 25416956, 25502805, 25910212, 27107012, 29568061, 30488537, 30833792, 31515488, 32296183, 32814053, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	16858403, 27534416
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	IMP	21610090
GO:0005635	Component	Nuclear envelope	TAS	8589715
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IDA	19167377
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	NAS	16858403
GO:0005640	Component	Nuclear outer membrane	IDA	17785515
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005654	Component	Nucleoplasm	IDA	27534416
GO:0005737	Component	Cytoplasm	IDA	27534416
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005819	Component	Spindle	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IEA
GO:0006936	Process	Muscle contraction	TAS	7894480
GO:0007517	Process	Muscle organ development	TAS	7894480, 8589715
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0031616	Component	Spindle pole centrosome	IDA	19494128
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032541	Component	Cortical endoplasmic reticulum	IDA	19494128
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046827	Process	Positive regulation of protein export from nucleus	IMP	16858403
GO:0048147	Process	Negative regulation of fibroblast proliferation	IMP	16858403
GO:0048487	Function	Beta-tubulin binding	IBA
GO:0048487	Function	Beta-tubulin binding	IDA	17785515
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IMP	16858403
GO:0071363	Process	Cellular response to growth factor stimulus	IMP	16858403
GO:0071763	Process	Nuclear membrane organization	IMP	32923640
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	16858403
GO:0160045	Component	TMEM240-body	IEA
GO:1990000	Process	Amyloid fibril formation	EXP	26415001

Other IDs

• MIM: 300384
• HGNC: 3331
• e!Ensembl: ENSG00000102119

Protein

• UniProt ID: P50402
• Protein name: Emerin
• Protein function: Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in
• PDB: 1JEI, 2ODC, 2ODG, 6GHD, 6RPR, 7NDY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03020	LEM	3 → 42	LEM domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Skeletal muscle, heart, colon, testis, ovary and pancreas.
• Sequence:

  MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYS
  FSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQS
  VTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLS
  YYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
  FIYHFMQAEEGNPF

• Sequence length: 254

Pathways

KEGG:

Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Reactome:

Nuclear Envelope Breakdown
Initiation of Nuclear Envelope (NE) Reformation
Depolymerisation of the Nuclear Lamina
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

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
Cardiovascular phenotype	Pathogenic	rs2522788283, rs876661345, rs132630262	RCV002432875 RCV000246169 RCV002381248	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2	Likely pathogenic	rs1557182214	RCV002221161	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMD-related disorder	Pathogenic	rs782452523	RCV003401269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Emery-Dreifuss muscular dystrophy	Pathogenic; Likely pathogenic	rs727503036, rs1557182301	RCV001280616 RCV001553580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Emery-Dreifuss muscular dystrophy 1, X-linked	Likely pathogenic; Pathogenic	rs730880352, rs2522790689, rs886041854, rs782452523, rs1557182431, rs2522789929, rs2522790651, rs886044901, rs2522790106, rs2522789891, rs1569552080, rs398123158	RCV005632269 RCV003492783 RCV003492025 RCV003492030 RCV003340827 RCV003389291 RCV004006218 RCV004547315 RCV004576374 RCV004594948 RCV003387916 RCV003492432	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Failure to thrive	Pathogenic	rs1557182317	RCV000626613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Flexion contracture	Pathogenic	rs1557182317	RCV000626613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic	rs1557182317	RCV000626613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromuscular disease	Pathogenic; Likely pathogenic	rs727503036, rs730880352, rs727504901	RCV000150647 RCV000155918 RCV000156286	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2148128554	RCV005924367	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial dilated cardiomyopathy	Likely pathogenic	rs1603365762	RCV000845433	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2522789017, rs1557182560	RCV005930338 RCV005901401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked Emery-Dreifuss muscular dystrophy	Pathogenic; Likely pathogenic	rs2148128756, rs2148128957, rs2148127941, rs2148128122, rs876661345, rs2148128811, rs2148128871, rs2148128961, rs730880352, rs2148128139, rs794729010, rs2148128715, rs2148128862, rs2148128554, rs2148128459, rs727503036, rs2522789017, rs2522787159, rs2522790689, rs782697057, rs2522790318, rs2522790624, rs1422834817, rs267606782, rs2148128153, rs132630262, rs2148128932, rs104894805, rs104894806, rs886041854, rs886044771, rs782452523, rs886044901, rs1557182431, rs2522788362, rs2522787619, rs2522788352, rs2522790701, rs2522787812, rs2522789000, rs2522789026, rs2522790590, rs1060502612, rs1557182286, rs1557182661, rs1557182670, rs1557182676, rs1557182692, rs1557182214, rs1557182560, rs782011714, rs1557182611, rs1557182364, rs1557182301, rs1557182654, rs1569552106, rs1569552080, rs1569552076, rs1569552079, rs2067873691, rs2067883871, rs727504901, rs2067885544, rs398123158	RCV001376154 RCV001376153 RCV001388435 RCV001388436 RCV001388437 RCV001384139 RCV001385621 RCV001387613 RCV001389493 RCV001542506 RCV001802514 RCV001808004 RCV002007226 RCV001994790 RCV001877850 RCV001972522 RCV005089732 RCV001850141 RCV003050681 RCV001037353 RCV002815994 RCV002899074 RCV002961933 RCV003053797 RCV003066123 RCV000697180 RCV000011921 RCV000802953 RCV000011924 RCV000011926 RCV000011927 RCV001224353 RCV000011929 RCV000526347 RCV001068392 RCV001216679 RCV002518125 RCV003523160 RCV003524202 RCV003522201 RCV003523391 RCV003524846 RCV003639870 RCV003639883 RCV003640017 RCV003640346 RCV000458523 RCV005091070 RCV000793350 RCV000697863 RCV001388629 RCV000498518 RCV000497910 RCV000557820 RCV000543940 RCV000690680 RCV000638215 RCV000638214 RCV000638224 RCV000706552 RCV005092061 RCV000754753 RCV000755015 RCV000991009 RCV001065164 RCV001041051 RCV001063271 RCV001212666 RCV001251168 RCV000816244	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked myopathy with postural muscle atrophy	Pathogenic	rs2522787001	RCV003885427	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal involuntary movement	Abnormal Involuntary Movement	BEFREE	30298296		★☆☆☆☆ Found in Text Mining only
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	9690807		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30542735		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	19581290	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	27331311		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	36106556	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	27717524		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	18266676		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	18266676		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	18266676	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	BEFREE	11792810		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31041595		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18281665		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15781862		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39198511	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	8562040		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10220866, 10533281, 11385714, 19022376, 24997722, 25502304, 30506906, 31009944, 31430335, 9536090		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	12783988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	24997722, 30506906	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	30506906	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	11369194, 11733221, 11792810, 24997722, 31460960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	11733221		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	11063761	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	26918470		★☆☆☆☆ Found in Text Mining only
Cerebral Angiitis	Cerebral Angiitis	BEFREE	30576821		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31121577		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	17761684		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	30626539		★☆☆☆☆ 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	28290476		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	30113416		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	18266676		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30443669		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	25461922		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	22415234		★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	BEFREE	9829281		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	16077987		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	23313286		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG	10382909, 8595433		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingival Recession	Gingival Recession	BEFREE	29948276		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30576821		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	31170960		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	11385714		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	16858403, 30506906	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	11063761, 36106556	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	18596264		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28290476		★☆☆☆☆ Found in Text Mining only
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytic Lymphohistiocytosis	BEFREE	28214269		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	28772338		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28228713		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28131187		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	16823856		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	29349559		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18400857, 8552981		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	11733221, 11766875, 12783988		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	27331311, 30860670		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15781862		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27779106		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30154147		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30154147		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31024910		★☆☆☆☆ Found in Text Mining only
Mild depression	Mental Depression	BEFREE	29678455		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36106556	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	28840053, 29610036, 30120561, 30619072, 30831284, 31075871, 31121577, 31608819		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	28840053, 29610036, 30619072, 30831284, 31075871, 31121577, 31608819		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	11733221, 15770669, 17620497, 31430335		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	17620497, 18646565		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10533281, 10655060, 16772334, 17698609, 19022376, 24055652, 26415001, 31009944, 9781539		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	12783988		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	10092874, 11063761, 11077661, 11435115, 11470279, 12493765, 12755701, 15009215, 15328537, 15681850, 15832002, 16972941, 23671687, 24997722, 25454731, 26415001, 27911330, 27960036, 28214269, 28984111, 30506906, 31185657, 32549231, 34206382, 34524739, 35976242	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	18266676, 25030574, 40004006	Inhibit	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	19021553		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	10092874, 10220866, 10323252, 10382909, 10393813, 10428430, 10579712, 10740265, 10757644, 10838246, 11053683, 11385714, 11503164, 11930270, 11973618, 12661041, 12684533, 12685553, 12783988, 15009215, 15037308, 15770669, 15832002, 15967842, 16204256, 16246140, 16403804, 16804269, 16904876, 17013557, 17217858, 17462627, 17536044, 17761684, 19021551, 19021553, 19070492, 19716112, 1998333, 21391237, 21697856, 21993399, 22103509, 22171324, 22555292, 23456229, 24365856, 24718612, 24825363, 24997722, 25454731, 25502304, 26675233, 27960036, 28188262, 28290476, 28984111, 29065506, 29192166, 29549040, 29912636, 30332321, 30506906, 30871242, 31430335, 31460960, 31574358, 8655156, 8776595, 9066362, 9132142, 9266737, 9361031, 9472006, 9536090, 9829281		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	LHGDN	11973618, 15009215, 16761279, 16997877, 17536044, 18266676, 18646565		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	16478798		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	BEFREE	11733221, 15832002, 19070492		★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	12432825		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	18266676, 21391237, 31430335		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myositis	Myositis	LHGDN	16823856		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11325884, 21248148, 27769056, 27779106, 29072488		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	10080180, 12661041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG	10220866, 10382909, 10428430, 1178008, 17355552, 18646565, 1998333, 7294729, 8595406, 8595407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16533873		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28228713, 28396567		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19581290	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27779106		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	27779106		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30443669		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	27331311		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	16246140, 17274801		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	11077661	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30154147		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	39218980	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	28254079		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	BEFREE	30624401		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29072488		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27717524		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	12432825		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	18266676	Associate	★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	18266676		★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	8562040		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25116851	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	26254781		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	25502304		★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	10323252, 10393813, 10399752, 10480214, 10533281, 10677860, 10838245, 11053683, 11063761, 11073359, 11159939, 11369194, 11470279, 15880484, 16403804, 17067998, 17462627, 18266676, 24252515, 25461922, 25502304, 26415001, 30871242, 31185657, 9195226, 9472006, 9731189		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	UNIPROT_DG	10323252, 11587540, 15009215, 15328537		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	CLINVAR_DG	10382909, 15967842, 17620497, 19997654, 21520333, 21697856, 7894480, 8589715, 8595407, 8595433, 9195226		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	GENOMICS_ENGLAND_DG	26247046, 29349559		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked Emery-Dreifuss muscular dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked myopathy with excessive autophagy	Myopathy With Excessive Autophagy, X-Linked	BEFREE	2892402		★☆☆☆☆ Found in Text Mining only