NEXN (nexilin F-actin binding protein)

Gene

• Entrez ID: 91624
• Gene name: Nexilin F-actin binding protein
• Gene symbol: NEXN
• Synonyms (NCBI Gene): CDM2M, CMH20, NELIN
• Chromosome: 1
• Chromosome location: 1p31.1
• Summary: This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been desc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853197	A>G	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137853198	C>A	Pathogenic	Missense variant, coding sequence variant
rs200753280	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs201019553	T>G	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs372532824	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs387907079	C>G	Pathogenic	Coding sequence variant, missense variant
rs397517848	GGAGGA>-,GGA,GGAGGAGGA	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Inframe insertion, coding sequence variant, inframe deletion
rs397517853	GAG>-	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, inframe deletion
rs727505353	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs771262904	G>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs794729086	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794729088	ACAA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs794729092	AA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1222794437	TACTT>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1181370	hsa-miR-1244	CLIP-seq
MIRT1181371	hsa-miR-1253	CLIP-seq
MIRT1181372	hsa-miR-3163	CLIP-seq
MIRT1181373	hsa-miR-3180-5p	CLIP-seq
MIRT1181374	hsa-miR-3185	CLIP-seq
MIRT1181375	hsa-miR-325	CLIP-seq
MIRT1181376	hsa-miR-3609	CLIP-seq
MIRT1181377	hsa-miR-3647-3p	CLIP-seq
MIRT1181378	hsa-miR-4270	CLIP-seq
MIRT1181379	hsa-miR-4282	CLIP-seq
MIRT1181380	hsa-miR-4300	CLIP-seq
MIRT1181381	hsa-miR-4311	CLIP-seq
MIRT1181382	hsa-miR-4441	CLIP-seq
MIRT1181383	hsa-miR-4633-3p	CLIP-seq
MIRT1181384	hsa-miR-4685-5p	CLIP-seq
MIRT1181385	hsa-miR-4728-5p	CLIP-seq
MIRT1181386	hsa-miR-511	CLIP-seq
MIRT1181387	hsa-miR-520a-5p	CLIP-seq
MIRT1181388	hsa-miR-525-5p	CLIP-seq
MIRT1181389	hsa-miR-548ah	CLIP-seq
MIRT1181390	hsa-miR-548t	CLIP-seq
MIRT1181391	hsa-miR-920	CLIP-seq
MIRT1181392	hsa-miR-939	CLIP-seq
MIRT2052506	hsa-miR-1238	CLIP-seq
MIRT2052507	hsa-miR-3127-3p	CLIP-seq
MIRT2052508	hsa-miR-4766-5p	CLIP-seq
MIRT2281871	hsa-miR-141	CLIP-seq
MIRT2281872	hsa-miR-200a	CLIP-seq
MIRT2281871	hsa-miR-141	CLIP-seq
MIRT2281872	hsa-miR-200a	CLIP-seq
MIRT2431578	hsa-miR-3651	CLIP-seq
MIRT2431579	hsa-miR-4775	CLIP-seq
MIRT2431580	hsa-miR-590-3p	CLIP-seq
MIRT2431581	hsa-miR-889	CLIP-seq
MIRT2579940	hsa-miR-217	CLIP-seq
MIRT2579941	hsa-miR-3148	CLIP-seq
MIRT2579942	hsa-miR-3978	CLIP-seq
MIRT2579943	hsa-miR-4418	CLIP-seq
MIRT2579944	hsa-miR-4502	CLIP-seq
MIRT2579945	hsa-miR-509-3-5p	CLIP-seq
MIRT2579946	hsa-miR-509-5p	CLIP-seq
MIRT2579940	hsa-miR-217	CLIP-seq
MIRT2579941	hsa-miR-3148	CLIP-seq
MIRT2579942	hsa-miR-3978	CLIP-seq
MIRT2579943	hsa-miR-4418	CLIP-seq
MIRT2579944	hsa-miR-4502	CLIP-seq
MIRT2579945	hsa-miR-509-3-5p	CLIP-seq
MIRT2579946	hsa-miR-509-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005912	Component	Adherens junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0008307	Function	Structural constituent of muscle	IMP	19881492
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030334	Process	Regulation of cell migration	IDA	15823560
GO:0030424	Component	Axon	IBA
GO:0051015	Function	Actin filament binding	IDA	15823560
GO:0051493	Process	Regulation of cytoskeleton organization	IEP	15823560
GO:0070161	Component	Anchoring junction	IEA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

Other IDs

• MIM: 613121
• HGNC: 29557
• e!Ensembl: ENSG00000162614

Protein

• UniProt ID: Q0ZGT2
• Protein name: Nexilin (F-actin-binding protein) (Nelin)
• Protein function: Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity. {ECO:0000269|PubMed:12053183, ECO:0000269|PubMed:15823560, ECO:0000269|PubMed:1988
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	582 → 671	Immunoglobulin I-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines. {ECO:0000269|PubMed:12053183, ECO:0000269|PubMed:15823560, ECO:0000269|PubMed
• Sequence:

  MNDISQKAEILLSSSKPVPKTYVPKLGKGDVKDKFEAMQRAREERNQRRSRDEKQRRKEQ
  YIREREWNRRKQEIKEMLASDDEEDVSSKVEKAYVPKLTGTVKGRFAEMEKQRQEEQRKR
  TEEERKRRIEQDMLEKRKIQRELAKRAEQIEDINNTGTESASEEGDDSLLITVVPVKSYK
  TSGKMKKNFEDLEKEREEKERIKYEEDKRIRYEEQRPSLKEAKCLSLVMDDEIESEAKKE
  SLSPGKLKLTFEELERQRQENRKKQAEEEARKRLEEEKRAFEEARRQMVNEDEENQDTAK
  IFKGYRPGKLKLSFEEMERQRREDEKRKAEEEARRRIEEEKKAFAEARRNMVVDDDSPEM
  YKTISQEFLTPGKLEINFEELLKQKMEEEKRRTEEERKHKLEMEKQEFEQLRQEMGEEEE
  ENETFGLSREYEELIKLKRSGSIQAKNLKSKFEKIGQLSEKEIQKKIEEERARRRAIDLE
  IKEREAENFHEEDDVDVRPARKSEAPFTHKVNMKARFEQMAKAREEEEQRRIEEQKLLRM
  QFEQREIDAALQKKREEEEEEEGSIMNGSTAEDEEQTRSGAPWFKKPLKNTSVVDSEPVR
  FTVKVTGEPKPEITWWFEGEILQDGEDYQYIERGETYCLYLPETFPEDGGEYMCKAVNNK
  GSAASTCILTIESKN

• Sequence length: 675

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
Dilated cardiomyopathy 1CC	Likely pathogenic; Pathogenic	rs747902604, rs2102146999, rs2102147202, rs761030548, rs2523247994, rs2526788988, rs2523207851, rs2523206492, rs2523301351, rs779386334, rs2523223119, rs1361285566, rs2526786866, rs2523301824, rs2523208987, rs2523208787, rs1553240600	RCV001317526 RCV001897348 RCV001983393 RCV003075494 RCV002814634 RCV002858141 RCV003029052 RCV003030600 RCV003047262 RCV003056070 RCV003782060 RCV003791157 RCV003799834 RCV003804225 RCV003804631 RCV003810396 RCV000647281	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heart failure	Likely pathogenic; Pathogenic	rs747902604	RCV005235562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 20	Likely pathogenic; Pathogenic	rs747902604, rs2102146999, rs2102147202, rs761030548, rs2523247994, rs2526788988, rs2523207851, rs2523206492, rs2523301351, rs779386334, rs2523223119, rs1361285566, rs2526786866, rs2523301824, rs2523208987, rs2523208787, rs387907079, rs1553240600	RCV001317526 RCV001897348 RCV001983393 RCV003075494 RCV002814634 RCV002858141 RCV003029052 RCV003030600 RCV003047262 RCV003056070 RCV003782060 RCV003791157 RCV003799834 RCV003804225 RCV003804631 RCV003810396 RCV000023984 RCV000647281	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cardiac test	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 9	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1CC	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, dilated, 2M	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1S	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular hypertrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEXN-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ventricular contraction	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely 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
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arteriosclerosis	Arteriosclerosis	BEFREE	30589415, 31830726		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	26458985, 39801217	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30589415, 31830726		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	24866383		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	35166435	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19843512, 24866383, 30982350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	38059363	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31983221, 32041989, 35166435, 36129056, 38059363	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	20970104, 33947203, 38059363	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	19881492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	19881492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1CC	Cardiomyopathy	UNIPROT_DG	19881492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1CC	Cardiomyopathy	GENOMICS_ENGLAND_DG	19881492, 20970104, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1CC	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1CC	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20	Cardiomyopathy	CLINGEN_DG	19881492, 20970104, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20	Cardiomyopathy	GENOMICS_ENGLAND_DG	19881492, 20970104, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20	Cardiomyopathy	UNIPROT_DG	20970104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	26458985	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19881492, 20605922		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24349201, 30589415		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24349201, 30589415		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24349201, 24866383, 30589415		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	26458985	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	19881492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	19881492, 20605922		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperglycemia	Hyperglycemia	BEFREE	28368536		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26458985	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20970104, 21430528		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	20970104		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28925397		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16912177		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	38059363	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29922213		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	24349201		★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	26458985	Stimulate	★☆☆☆☆ Found in Text Mining only