SNTA1 (syntrophin alpha 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6640
• Gene name: Syntrophin alpha 1
• Gene symbol: SNTA1
• Synonyms (NCBI Gene): LQT12, SNT1, TACIP1, dJ1187J4.5
• Chromosome: 20
• Chromosome location: 20q11.21
• Summary: Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues

SNPs Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs56157422	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs121434500	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs139532210	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Intron variant
rs141724500	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs144860423	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs572545726	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022575	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO) Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IMP	18591664
GO:0003779	Function	Actin binding	IEA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	9356463, 10212242, 16192269, 16533813, 18468998, 19931615, 26617989, 27382054, 28514442, 33961781
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006936	Process	Muscle contraction	TAS	8576247
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IBA
GO:0016013	Component	Syntrophin complex	TAS	21164104
GO:0016020	Component	Membrane	IEA
GO:0016328	Component	Lateral plasma membrane	TAS	21164104
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0017080	Function	Sodium channel regulator activity	IMP	18591664
GO:0030165	Function	PDZ domain binding	IEA
GO:0031594	Component	Neuromuscular junction	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032991	Component	Protein-containing complex	IDA	18591664
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	18591664
GO:0050998	Function	Nitric-oxide synthase binding	IPI	18591664
GO:0051117	Function	ATPase binding	IPI	18591664
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	18591664
GO:0070161	Component	Anchoring junction	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IBA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	18591664
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IMP	18591664

Other IDs

• MIM: 601017
• HGNC: 11167
• e!Ensembl: ENSG00000101400

Protein

• UniProt ID: Q13424
• Protein name: Alpha-1-syntrophin (59 kDa dystrophin-associated protein A1 acidic component 1) (Pro-TGF-alpha cytoplasmic domain-interacting protein 1) (TACIP1) (Syntrophin-1)
• Protein function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	294 → 401	PH domain	Domain
  PF00595	PDZ	87 → 167	PDZ domain	Domain
  PF18012	PH_17	208 → 266	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
• Sequence:

  MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQE
  PAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKG
  LAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNST
  GGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICS
  ADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
  TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPY
  DAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRP
  CSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLH
  SCPKTIVFIIHSFLSAKVTRLGLLA

• Sequence length: 505

Pathways

KEGG Pathway

Cytoskeleton in muscle cells

Hypertrophic cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy

Dilated cardiomyopathy

Viral myocarditis

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)

Unknown / Other Associations Show/Hide Unknown Diseases (40)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Atrial fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BASAL CELL CARCINOMA	—	GWAS catalog	38182794	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CANCER	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 3B	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DMD-ASSOCIATED DILATED CARDIOMYOPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duchenne muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 12	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 2	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	37684235	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	29739929	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	20301308, 24093767	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick sinus syndrome	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SNTA1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	20886625	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation, paroxysmal familial, type 1	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (40)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	35762211	Inhibit	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	35773684	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29714131		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Carcinoma	Breast Carcinoma	BEFREE	16682955, 24434436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24434436	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	35773684	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35773684	Associate	★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	18591664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	30120299		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	30120299	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21430528		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	31467338	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	19684871, 20009079, 20920651, 23376825, 27028743, 31529317		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long qt syndrome	Pubtator	20809527, 23376825, 36528013	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 12	Long QT Syndrome	GENOMICS_ENGLAND_DG	16301704, 19684871		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 12	Long QT Syndrome	UNIPROT_DG	18591664, 19684871		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 12	Long QT Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long Qt Syndrome 12	Long QT Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant neoplasm of breast	Breast Cancer	BEFREE	16682955, 24434436		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24434436		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	23426965	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	23426965		★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	29449194		★☆☆☆☆ Found in Text Mining only
Narcolepsy-Cataplexy Syndrome	Narcolepsy-Cataplexy Syndrome	BEFREE	29449194		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34092653	Associate	★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30120299		★☆☆☆☆ Found in Text Mining only
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	24093767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short Qt Syndrome	Short QT Syndrome	BEFREE	29874177		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	20886625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	20886625		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SSPN 1 shared diseaseCancer 5 shared pathwaysCytoskeleton in muscle cells, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Viral myocarditis 3 shared evidence sourcesDisgenet (Atrial fibrillation), GWAS catalog (Basal cell carcinoma), GWAS catalog (Cancer) Related via 5 shared pathways including Cytoskeleton in muscle cells, Hypertrophic cardiomyopathy — evidence mostly GWAS catalog. AKAP9 5 shared diseasesDilated cardiomyopathy, Brugada syndrome, Long qt syndrome, Ventricular fibrillation, Wolff-parkinson-white syndrome 11 shared evidence sourcesDisgenet (Brugada syndrome), Disgenet (Dilated cardiomyopathy), CTD (Long qt syndrome), ClinGen (Long qt syndrome), Disgenet (Long qt syndrome), ClinVar (Long qt syndrome), GenCC (Long qt syndrome), HPO (Long qt syndrome), Orphanet (Long qt syndrome), Disgenet (Ventricular fibrillation), Disgenet (Wolff-parkinson-white syndrome) Related via 5 shared diseases including Dilated cardiomyopathy, Brugada syndrome — evidence mostly Disgenet. DMD 3 shared diseasesDilated cardiomyopathy, Becker muscular dystrophy, Status epilepticus 5 shared pathwaysCytoskeleton in muscle cells, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Viral myocarditis 4 shared evidence sourcesDisgenet (Becker muscular dystrophy), Disgenet (Dilated cardiomyopathy), Disgenet (Status epilepticus), CTD (Status epilepticus) Related via 5 shared pathways including Cytoskeleton in muscle cells, Hypertrophic cardiomyopathy — evidence mostly Disgenet. DTNA 1 shared diseaseDilated cardiomyopathy 5 shared pathwaysCytoskeleton in muscle cells, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Viral myocarditis 1 shared evidence sourceDisgenet (Dilated cardiomyopathy) Related via 5 shared pathways including Cytoskeleton in muscle cells, Hypertrophic cardiomyopathy — evidence mostly Disgenet. SGCB 1 shared diseaseDilated cardiomyopathy 5 shared pathwaysCytoskeleton in muscle cells, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Viral myocarditis 1 shared evidence sourceDisgenet (Dilated cardiomyopathy) Related via 5 shared pathways including Cytoskeleton in muscle cells, Hypertrophic cardiomyopathy — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SSPN	1	["Cancer"]	5	["Cytoskeleton in muscle cells","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Viral myocarditis"]	3	["Disgenet (Atrial fibrillation)","GWAS catalog (Basal cell carcinoma)","GWAS catalog (Cancer)"]
AKAP9	5	["Dilated cardiomyopathy","Brugada syndrome","Long qt syndrome","Ventricular fibrillation","Wolff-parkinson-white syndrome"]	0	[]	11	["Disgenet (Brugada syndrome)","Disgenet (Dilated cardiomyopathy)","CTD (Long qt syndrome)","ClinGen (Long qt syndrome)","Disgenet (Long qt syndrome)","ClinVar (Long qt syndrome)","GenCC (Long qt syndrome)","HPO (Long qt syndrome)","Orphanet (Long qt syndrome)","Disgenet (Ventricular fibrillation)","Disgenet (Wolff-parkinson-white syndrome)"]
DMD	3	["Dilated cardiomyopathy","Becker muscular dystrophy","Status epilepticus"]	5	["Cytoskeleton in muscle cells","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Viral myocarditis"]	4	["Disgenet (Becker muscular dystrophy)","Disgenet (Dilated cardiomyopathy)","Disgenet (Status epilepticus)","CTD (Status epilepticus)"]
DTNA	1	["Dilated cardiomyopathy"]	5	["Cytoskeleton in muscle cells","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Viral myocarditis"]	1	["Disgenet (Dilated cardiomyopathy)"]
SGCB	1	["Dilated cardiomyopathy"]	5	["Cytoskeleton in muscle cells","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Viral myocarditis"]	1	["Disgenet (Dilated cardiomyopathy)"]

Diseases Linked via Similar Genes

Hypertrophic cardiomyopathy Linked via 4 of 5 related genesSSPN, AKAP9, DMD, DTNA Diabetes mellitus type 2 Linked via 3 of 5 related genesSSPN, DMD, SGCB Cardiomyopathy Linked via 3 of 5 related genesDMD, DTNA, SGCB Major depressive disorder Linked via 2 of 5 related genesSSPN, DMD Left ventricular noncompaction cardiomyopathy Linked via 2 of 5 related genesDMD, DTNA

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hypertrophic cardiomyopathy	4	["SSPN","AKAP9","DMD","DTNA"]
Diabetes mellitus type 2	3	["SSPN","DMD","SGCB"]
Cardiomyopathy	3	["DMD","DTNA","SGCB"]
Major depressive disorder	2	["SSPN","DMD"]
Left ventricular noncompaction cardiomyopathy	2	["DMD","DTNA"]