CSRP3 (cysteine and glycine rich protein 3)

Gene

• Entrez ID: 8048
• Gene name: Cysteine and glycine rich protein 3
• Gene symbol: CSRP3
• Synonyms (NCBI Gene): CLP, CMD1M, CMH12, CRP3, LMO4, MLP
• Chromosome: 11
• Chromosome location: 11p15.1
• Summary: This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of prote

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs13451	C>G,T	Likely-benign, benign, likely-pathogenic	Synonymous variant, coding sequence variant
rs104894204	A>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894205	A>G	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137852764	T>C	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs137852765	T>G	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs138218523	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs142019584	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs185980145	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs193922667	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs281865416	TCCGA>CCCCT	Pathogenic	Coding sequence variant, intron variant, missense variant
rs761507504	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876657767	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs886041190	->CC	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs902082118	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs963128995	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs1565050320	C>G	Pathogenic	Coding sequence variant, missense variant
rs1565050709	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565053085	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1565053147	T>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT637238	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT637237	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT637236	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT637238	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT637237	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT637236	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT566906	hsa-miR-6755-5p	PAR-CLIP	20371350
MIRT566905	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT566904	hsa-miR-103a-2-5p	PAR-CLIP	20371350
MIRT566903	hsa-miR-197-5p	PAR-CLIP	20371350
MIRT566902	hsa-miR-3132	PAR-CLIP	20371350
MIRT566901	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT566900	hsa-miR-569	PAR-CLIP	20371350
MIRT637238	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT637237	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT637236	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT637238	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT637237	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT637236	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT566906	hsa-miR-6755-5p	PAR-CLIP	20371350
MIRT566905	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT566904	hsa-miR-103a-2-5p	PAR-CLIP	20371350
MIRT566903	hsa-miR-197-5p	PAR-CLIP	20371350
MIRT566902	hsa-miR-3132	PAR-CLIP	20371350
MIRT566901	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT566900	hsa-miR-569	PAR-CLIP	20371350
MIRT913268	hsa-miR-150	CLIP-seq
MIRT913269	hsa-miR-2117	CLIP-seq
MIRT913270	hsa-miR-2681	CLIP-seq
MIRT913271	hsa-miR-340	CLIP-seq
MIRT913272	hsa-miR-4273	CLIP-seq
MIRT913273	hsa-miR-4528	CLIP-seq
MIRT913274	hsa-miR-4713-5p	CLIP-seq
MIRT913275	hsa-miR-4760-5p	CLIP-seq
MIRT913276	hsa-miR-532-3p	CLIP-seq
MIRT1970853	hsa-miR-105	CLIP-seq
MIRT1970854	hsa-miR-369-3p	CLIP-seq
MIRT1970855	hsa-miR-374a	CLIP-seq
MIRT1970856	hsa-miR-374b	CLIP-seq
MIRT1970857	hsa-miR-374c	CLIP-seq
MIRT1970858	hsa-miR-4729	CLIP-seq
MIRT1970859	hsa-miR-4797-5p	CLIP-seq
MIRT1970860	hsa-miR-655	CLIP-seq
MIRT1970853	hsa-miR-105	CLIP-seq
MIRT1970854	hsa-miR-369-3p	CLIP-seq
MIRT1970855	hsa-miR-374a	CLIP-seq
MIRT1970856	hsa-miR-374b	CLIP-seq
MIRT1970857	hsa-miR-374c	CLIP-seq
MIRT1970858	hsa-miR-4729	CLIP-seq
MIRT1970859	hsa-miR-4797-5p	CLIP-seq
MIRT1970860	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002026	Process	Regulation of the force of heart contraction	IEA
GO:0002026	Process	Regulation of the force of heart contraction	ISS
GO:0003300	Process	Cardiac muscle hypertrophy	IMP	12507422
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	12127981, 15205937, 15582318, 24860983, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0007507	Process	Heart development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	TAS	7954791
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008307	Function	Structural constituent of muscle	IBA
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0008307	Function	Structural constituent of muscle	IMP	12507422
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	12507422, 24860983
GO:0030018	Component	Z disc	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031433	Function	Telethonin binding	IDA	12507422
GO:0031433	Function	Telethonin binding	IEA
GO:0031433	Function	Telethonin binding	IPI	15582318
GO:0033292	Process	T-tubule organization	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0035995	Process	Detection of muscle stretch	IEA
GO:0035995	Process	Detection of muscle stretch	IMP	12507422
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042802	Function	Identical protein binding	IPI	24860983
GO:0042805	Function	Actinin binding	IBA
GO:0042805	Function	Actinin binding	IEA
GO:0042805	Function	Actinin binding	ISS	12507422
GO:0045214	Process	Sarcomere organization	IBA
GO:0045214	Process	Sarcomere organization	IMP	12507422
GO:0045662	Process	Negative regulation of myoblast differentiation	IDA	24860983
GO:0045663	Process	Positive regulation of myoblast differentiation	IDA	24860983
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	9234731
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0048738	Process	Cardiac muscle tissue development	ISS
GO:0055003	Process	Cardiac myofibril assembly	IEA
GO:0055003	Process	Cardiac myofibril assembly	ISS	12507422
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	12507422
GO:0060537	Process	Muscle tissue development	IBA
GO:0072594	Process	Establishment of protein localization to organelle	IMP	12507422
GO:0141212	Process	Phospholipase C/protein kinase C signal transduction	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IEA
GO:1903919	Process	Negative regulation of actin filament severing	IDA	24860983
GO:1903920	Process	Positive regulation of actin filament severing	IDA	24860983

Other IDs

• MIM: 600824
• HGNC: 2472
• e!Ensembl: ENSG00000129170

Protein

• UniProt ID: P50461
• Protein name: Cysteine and glycine-rich protein 3 (Cardiac LIM protein) (Cysteine-rich protein 3) (CRP3) (LIM domain protein, cardiac) (Muscle LIM protein)
• Protein function: Positive regulator of myogenesis. Acts as a cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functi
• PDB: 2O10, 2O13
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00412	LIM	10 → 66	LIM domain	Domain
  PF00412	LIM	120 → 176	LIM domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Cardiac and slow-twitch skeletal muscles. Isoform 2 is expressed in striated muscle. Isoform 2 is specifically expressed at higher levels in patients with neuromuscular diseases, such as limb-girdle muscular dystrophy 2A (LGMD2A), Duch
• Sequence:

  MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKV
  CYGRRYGPKGIGYGQGAGCLSTDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKC
  PRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVTDKDGELYCKVCYAKNFGPTG
  IGFGGLTQQVEKKE

• Sequence length: 194

Pathways

KEGG:

Cytoskeleton in muscle cells

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
Cardiomyopathy	Likely pathogenic; Pathogenic	rs2494220581, rs761507504, rs902082118, rs1850628800, rs935867046	RCV002282800 RCV000769298 RCV000769302 RCV001170940 RCV001170409	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs1336937886, rs761507504, rs104894204, rs935867046	RCV004996005 RCV000617264 RCV002399315 RCV004032921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1M	Pathogenic; Likely pathogenic	rs1336937886, rs2133511280, rs2133516329, rs863224716, rs761507504, rs2494223496, rs935867046, rs2494223112, rs2494223132, rs902082118, rs1554968138, rs1554967541, rs759305806, rs1850628800, rs1850523074, rs766395852, rs776444956	RCV001885178 RCV001964172 RCV001931050 RCV000198698 RCV000203888 RCV003795538 RCV003804315 RCV003802908 RCV003802267 RCV001861413 RCV000653696 RCV000653697 RCV000811964 RCV001325848 RCV003769837 RCV001305556 RCV001308738 RCV001306690	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic	rs759269008	RCV001283727	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 12	Pathogenic; Likely pathogenic	rs1336937886, rs2133511280, rs2133516329, rs281865416, rs863224716, rs761507504, rs104894204, rs2494223496, rs935867046, rs2494223112, rs2494223132, rs902082118, rs1554968138, rs1554967541, rs759305806, rs1850628800, rs1850523074, rs766395852, rs776444956	RCV001885178 RCV001964172 RCV001931050 RCV000009324 RCV000198698 RCV000203888 RCV000009322 RCV003795538 RCV003804315 RCV003802908 RCV003802267 RCV001861413 RCV000653696 RCV000653697 RCV000811964 RCV001325848 RCV003769837 RCV001305556 RCV001308738 RCV001306690	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs1565050320, rs876657767, rs1565053085, rs1565053147	RCV000710027 RCV000710026 RCV000710023 RCV000710022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs761507504	RCV003401104	★★★★☆ 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, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1M	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CSRP3-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prolonged QT interval	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27696572		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28925397		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	35384713	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21484537, 24860983, 24934443, 25936993, 29119312, 30048712, 30826063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	22194935, 29222138, 33176267, 35241752, 36270459	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
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	15582318, 16352453, 20201937, 31406109, 33176267, 35241752	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	15582318, 16352453, 22429680, 30681346, 31406109, 31919335, 35241752, 35384713, 37431535, 39971408	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	35384713	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	10851202, 12642359, 14567970, 18505755, 27353086, 31406109, 9039266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	12642359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1M	Cardiomyopathy	UNIPROT_DG	12507422, 18505755, 19412328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1M	Cardiomyopathy	CLINVAR_DG	16352453, 18505755, 22429680, 23396983, 25351510, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1M	Cardiomyopathy	GENOMICS_ENGLAND_DG	18505755, 27532257, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1M	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	Cardiomyopathy	CLINGEN_DG	12642359, 15582318, 16352453, 19035361, 20044516, 21425739, 22429680, 24934443, 25351510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	Cardiomyopathy	UNIPROT_DG	12642359, 15205937, 18505755, 27353086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	Cardiomyopathy	CLINVAR_DG	16352453, 18505755, 22429680, 23396983, 25351510, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	Cardiomyopathy	GENOMICS_ENGLAND_DG	18505755, 27532257, 30681346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12507422, 12642359, 12909323, 14567970, 15582318, 16352453, 18505755, 23708682, 27353086, 31406109		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	30285748		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16051899, 28774437		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	10851202		★☆☆☆☆ Found in Text Mining only
Cleft Soft Palate	Cleft Soft Palate	BEFREE	28393073		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28437455		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17786325		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10851202, 14567970, 17971502, 21484537, 24934443, 25541130, 27353086, 28706255, 30826063, 31406109, 9039266, 9618528		★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	22612415		★☆☆☆☆ Found in Text Mining only
Endocardial Fibroelastosis	Endocardial Fibroelastosis	BEFREE	14567970		★☆☆☆☆ Found in Text Mining only
Endocardial Fibroelastosis	Endocardial Fibroelastosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	14567970		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	19412328	Associate	★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	30269613		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10851202, 14567970, 17971502, 21484537, 24934443, 25541130, 27353086, 28706255, 30826063, 31406109, 9039266, 9618528		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31406109, 33176267	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12642359, 14567970, 15205937, 15582318, 16352453, 17097056, 18505755, 25145518, 30012424, 30048712, 31406109		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	12642359, 18505755		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12642359, 14567970, 15205937, 18505755, 25145518, 30012424		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	33176267	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	30681346	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	21248356, 22612415		★☆☆☆☆ Found in Text Mining only
Impaired myocardial contractility	Impaired myocardial contractility	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	10851202		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	21425739		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	31231966		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28925397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31737204		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28925397, 29338031		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17786325		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	9176512		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	29460382		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31406109	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	25936993, 28867610, 30826063		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	9598313		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	24860983		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	25145518		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	11754469, 31226652		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17786325		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18353766		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	29125932		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	19608683		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27813290		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25559266, 25981615, 27993196, 28167245, 28246552, 28715505, 28910403, 29095202, 29338031, 29500815, 29535830, 29914696, 29937001, 30690081, 30918470, 30961427, 31049763, 31223614, 31231384		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35132271	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31737204		★☆☆☆☆ Found in Text Mining only
Submucous cleft palate	Submucosal cleft palate	BEFREE	24437586		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31669320		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	15516164, 29742363, 31226652, 31795734		★☆☆☆☆ Found in Text Mining only