ANKRD1 (ankyrin repeat domain 1)

Gene

• Entrez ID: 27063
• Gene name: Ankyrin repeat domain 1
• Gene symbol: ANKRD1
• Synonyms (NCBI Gene): ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2
• Chromosome: 10
• Chromosome location: 10q23.31
• Summary: The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35550482	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign	Missense variant, coding sequence variant
rs150266349	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150797476	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs183061595	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201398260	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs786205461	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs794728971	AA>-	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs794728975	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019931	hsa-miR-375	Microarray	20215506
MIRT025157	hsa-miR-181a-5p	Microarray	17612493
MIRT1545360	hsa-miR-127-5p	CLIP-seq
MIRT1545361	hsa-miR-1293	CLIP-seq
MIRT1545362	hsa-miR-300	CLIP-seq
MIRT1545363	hsa-miR-3115	CLIP-seq
MIRT1545364	hsa-miR-3646	CLIP-seq
MIRT1545365	hsa-miR-381	CLIP-seq
MIRT1545366	hsa-miR-4483	CLIP-seq
MIRT1545367	hsa-miR-4666-3p	CLIP-seq
MIRT1545368	hsa-miR-4747-5p	CLIP-seq
MIRT1545369	hsa-miR-4766-5p	CLIP-seq
MIRT1545370	hsa-miR-760	CLIP-seq
MIRT1555920	hsa-miR-10a	CLIP-seq
MIRT1555921	hsa-miR-10b	CLIP-seq
MIRT1555922	hsa-miR-1914	CLIP-seq
MIRT1545362	hsa-miR-300	CLIP-seq
MIRT1555923	hsa-miR-338-5p	CLIP-seq
MIRT1555924	hsa-miR-33a	CLIP-seq
MIRT1555925	hsa-miR-33b	CLIP-seq
MIRT1545364	hsa-miR-3646	CLIP-seq
MIRT1555926	hsa-miR-3667-3p	CLIP-seq
MIRT1545365	hsa-miR-381	CLIP-seq
MIRT1545367	hsa-miR-4666-3p	CLIP-seq
MIRT1555927	hsa-miR-4729	CLIP-seq
MIRT1555928	hsa-miR-4789-5p	CLIP-seq
MIRT1555929	hsa-miR-5096	CLIP-seq
MIRT1555930	hsa-miR-544	CLIP-seq
MIRT1555931	hsa-miR-582-5p	CLIP-seq
MIRT2384170	hsa-miR-1208	CLIP-seq
MIRT2384171	hsa-miR-1225-5p	CLIP-seq
MIRT2384172	hsa-miR-1236	CLIP-seq
MIRT2384173	hsa-miR-135a	CLIP-seq
MIRT2384174	hsa-miR-135b	CLIP-seq
MIRT2384175	hsa-miR-2117	CLIP-seq
MIRT2384176	hsa-miR-27a	CLIP-seq
MIRT2384177	hsa-miR-27b	CLIP-seq
MIRT2384178	hsa-miR-299-5p	CLIP-seq
MIRT1555924	hsa-miR-33a	CLIP-seq
MIRT1555925	hsa-miR-33b	CLIP-seq
MIRT2384179	hsa-miR-3545-3p	CLIP-seq
MIRT2384180	hsa-miR-3614-5p	CLIP-seq
MIRT2384181	hsa-miR-3622a-3p	CLIP-seq
MIRT2384182	hsa-miR-3622a-5p	CLIP-seq
MIRT2384183	hsa-miR-3622b-3p	CLIP-seq
MIRT2384184	hsa-miR-3653	CLIP-seq
MIRT2384185	hsa-miR-3658	CLIP-seq
MIRT2384186	hsa-miR-412	CLIP-seq
MIRT2384187	hsa-miR-4420	CLIP-seq
MIRT2384188	hsa-miR-4423-3p	CLIP-seq
MIRT2384189	hsa-miR-4511	CLIP-seq
MIRT2384190	hsa-miR-4753-3p	CLIP-seq
MIRT2384191	hsa-miR-4757-3p	CLIP-seq
MIRT1555929	hsa-miR-5096	CLIP-seq
MIRT2384192	hsa-miR-513a-5p	CLIP-seq
MIRT2384193	hsa-miR-548b-3p	CLIP-seq
MIRT1555931	hsa-miR-582-5p	CLIP-seq
MIRT2675014	hsa-miR-4509	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DDIT3	Repression	19299913
TP53	Unknown	20599664

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0002039	Function	P53 binding	IPI	20599664
GO:0003677	Function	DNA binding	IDA	7730328
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	20599664
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	20599664
GO:0005515	Function	Protein binding	IPI	11309420, 19608030, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7730328, 12054667, 19608030
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	12054667, 17239933
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	19608030
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0030016	Component	Myofibril	IEA
GO:0031432	Function	Titin binding	IEA
GO:0031432	Function	Titin binding	IPI	14583192
GO:0031674	Component	I band	IEA
GO:0031674	Component	I band	ISS	19525294
GO:0032991	Component	Protein-containing complex	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035994	Process	Response to muscle stretch	IMP	19608030
GO:0042826	Function	Histone deacetylase binding	IPI	20599664
GO:0043065	Process	Positive regulation of apoptotic process	IMP	15805281
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	20599664
GO:0045214	Process	Sarcomere organization	NAS	11309420
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0050714	Process	Positive regulation of protein secretion	IMP	17239933
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IMP	19525294, 19608030
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IBA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	20599664
GO:0070412	Function	R-SMAD binding	IPI	20599664
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	7730328
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IDA	17239933
GO:0071347	Process	Cellular response to interleukin-1	IDA	7730328
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	7730328
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	11139470
GO:0141212	Process	Phospholipase C/protein kinase C signal transduction	IEA
GO:2000279	Process	Negative regulation of DNA biosynthetic process	IMP	11139470

Other IDs

• MIM: 609599
• HGNC: 15819
• e!Ensembl: ENSG00000148677

Protein

• UniProt ID: Q15327
• Protein name: Ankyrin repeat domain-containing protein 1 (Cardiac ankyrin repeat protein) (Cytokine-inducible gene C-193 protein) (Cytokine-inducible nuclear protein)
• Protein function: May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. {ECO:00
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	124 → 216	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	181 → 249	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	218 → 282	Ankyrin repeats (3 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells. {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
• Sequence:

  MMVLKVEELVTGKKNGNGEAGEFLPEDFRDGEYEAAVTLEKQEDLKTLLAHPVTLGEQQW
  KSEKQREAELKKKKLEQRSKLENLEDLEIIIQLKKRKKYRKTKVPVVKEPEPEIITEPVD
  VPTFLKAALENKLPVVEKFLSDKNNPDVCDEYKRTALHRACLEGHLAIVEKLMEAGAQIE
  FRDMLESTAIHWASRGGNLDVLKLLLNKGAKISARDKLLSTALHVAVRTGHYECAEHLIA
  CEADLNAKDREGDTPLHDAVRLNRYKMIRLLIMYGADLNIKNCAGKTPMDLVLHWQNGTK
  AIFDSLRENSYKTSRIATF

• Sequence length: 319

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

PPARA activates gene expression

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKRD1-related dilated cardiomyopathy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKRD1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ 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; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STRUCTURAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital total pulmonary venous return anomaly	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	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
Hypertrophic cardiomyopathy 2	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIES, NEMALINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	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
SPINAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systolic heart failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	18980987		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	12679596		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	19359327		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	19359327	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29792187		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defect Sinus Venosus	Sinus venosus atrial septal defect	BEFREE	31688894		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34918678	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	33168801	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	35575247	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	12377985		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30291293		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35140327, 40362467	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24709777	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	28672880, 31688894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	32344918, 34338756, 40362467	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19359327, 24709777	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19608030, 22892539, 25961010	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	32344918	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	19525294, 19608030, 27353086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	19525294, 19608030, 22892539		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27143260, 28672880		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29177102		★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	34918678	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20198318		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	LHGDN	18273862		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	19589340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	19359327, 19525294, 24709777, 28672880		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	25961010	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17239933		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	19525294		★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	LHGDN	17239933		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	19589340	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25961010	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	27143260		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19359327, 19525294, 24709777, 28672880		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	19359327, 25961010	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	BEFREE	19341785		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	30659708		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	19608031, 23572067		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	19608031, 23572067, 25613900		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	19608031, 23572067		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23087022		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	19359327		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	38310103	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30291293	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	LHGDN	17239933		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30291293		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30814490		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29792187		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	23087022		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	29238267		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	22194858		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18980987, 24870804, 28887324, 29179447, 29792187, 30291293		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	29792187		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30814490		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30111857	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12000728		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	38310103	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	38310103	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24870804		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	35397626	Associate	★☆☆☆☆ Found in Text Mining only
Total anomalous pulmonary venous return	Pulmonary Venous Return Anomaly	BEFREE	18273862, 26121141, 31688894		★☆☆☆☆ Found in Text Mining only
Total Anomalous Pulmonary Venous Return 1	Congenital total pulmonary venous return anomaly	UNIPROT_DG	18273862		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31590917		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	25961010	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	29792187		★☆☆☆☆ Found in Text Mining only