CORIN (corin, serine peptidase)

Gene

• Entrez ID: 10699
• Gene name: Corin, serine peptidase
• Gene symbol: CORIN
• Synonyms (NCBI Gene): ATC2, CMH30, CRN, Lrp4, PEE5, TMPRSS10
• Chromosome: 4
• Chromosome location: 4p12
• Summary: This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906894	T>C	Pathogenic	Coding sequence variant, missense variant
rs387906895	T>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT904547	hsa-miR-1224-5p	CLIP-seq
MIRT904548	hsa-miR-1305	CLIP-seq
MIRT904549	hsa-miR-141	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT904551	hsa-miR-200a	CLIP-seq
MIRT904552	hsa-miR-3065-3p	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904554	hsa-miR-3168	CLIP-seq
MIRT904555	hsa-miR-329	CLIP-seq
MIRT904556	hsa-miR-362-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904558	hsa-miR-382	CLIP-seq
MIRT904559	hsa-miR-3941	CLIP-seq
MIRT904560	hsa-miR-3976	CLIP-seq
MIRT904561	hsa-miR-4277	CLIP-seq
MIRT904562	hsa-miR-4291	CLIP-seq
MIRT904563	hsa-miR-4307	CLIP-seq
MIRT904564	hsa-miR-4420	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904566	hsa-miR-466	CLIP-seq
MIRT904567	hsa-miR-4672	CLIP-seq
MIRT904568	hsa-miR-4694-3p	CLIP-seq
MIRT904569	hsa-miR-4698	CLIP-seq
MIRT904570	hsa-miR-4751	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904572	hsa-miR-515-5p	CLIP-seq
MIRT904573	hsa-miR-603	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT904552	hsa-miR-3065-3p	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904562	hsa-miR-4291	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT904552	hsa-miR-3065-3p	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904562	hsa-miR-4291	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT2386370	hsa-miR-1184	CLIP-seq
MIRT2386371	hsa-miR-1205	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT904552	hsa-miR-3065-3p	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT2386372	hsa-miR-3158-5p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT2386370	hsa-miR-1184	CLIP-seq
MIRT2386371	hsa-miR-1205	CLIP-seq
MIRT2447458	hsa-miR-128	CLIP-seq
MIRT2447459	hsa-miR-27a	CLIP-seq
MIRT2447460	hsa-miR-27b	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT2386372	hsa-miR-3158-5p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT2447461	hsa-miR-412	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT2447462	hsa-miR-4514	CLIP-seq
MIRT2447463	hsa-miR-4660	CLIP-seq
MIRT2447464	hsa-miR-4692	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT2447465	hsa-miR-513a-5p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT2507511	hsa-miR-218	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT2678485	hsa-miR-2053	CLIP-seq
MIRT2507511	hsa-miR-218	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT2678486	hsa-miR-323b-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT2678487	hsa-miR-569	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT2678488	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003050	Process	Regulation of systemic arterial blood pressure by atrial natriuretic peptide	IEA
GO:0003050	Process	Regulation of systemic arterial blood pressure by atrial natriuretic peptide	IMP	22437503
GO:0003050	Process	Regulation of systemic arterial blood pressure by atrial natriuretic peptide	ISS
GO:0004175	Function	Endopeptidase activity	IMP	20489134
GO:0004252	Function	Serine-type endopeptidase activity	IDA	10880574, 21518754, 21763278
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21518754
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0007565	Process	Female pregnancy	IMP	22437503
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009986	Component	Cell surface	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016486	Process	Peptide hormone processing	IDA	10880574, 21518754
GO:0016486	Process	Peptide hormone processing	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035813	Process	Regulation of renal sodium excretion	IEA
GO:0035813	Process	Regulation of renal sodium excretion	ISS
GO:0044057	Process	Regulation of system process	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS

Other IDs

• MIM: 605236
• HGNC: 19012
• e!Ensembl: ENSG00000145244

Protein

• UniProt ID: Q9Y5Q5
• Protein name: Atrial natriuretic peptide-converting enzyme (EC 3.4.21.-) (Corin) (Heart-specific serine proteinase ATC2) (Pro-ANP-converting enzyme) (Transmembrane protease serine 10) [Cleaved into: Atrial natriuretic peptide-converting enzyme, N-terminal propeptide; A
• Protein function: Serine-type endopeptidase involved in atrial natriuretic peptide (NPPA) and brain natriuretic peptide (NPPB) processing (PubMed:10880574, PubMed:20489134, PubMed:21288900, PubMed:21763278). Converts through proteolytic cleavage the non-functiona
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01392	Fz	139 → 248	Fz domain	Domain
  PF00057	Ldl_recept_a	268 → 304	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	305 → 340	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	341 → 377	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	378 → 414	Low-density lipoprotein receptor domain class A	Repeat
  PF01392	Fz	455 → 565	Fz domain	Domain
  PF00057	Ldl_recept_a	578 → 614	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	653 → 689	Low-density lipoprotein receptor domain class A	Repeat
  PF15494	SRCR_2	698 → 794	Scavenger receptor cysteine-rich domain	Domain
  PF00089	Trypsin	802 → 1030	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). {ECO:0000269|PubMed:10329693, ECO:0000269|PubMed:19751717, ECO:0000269|PubM
• Sequence:

  MKQSPALAPEERCRRAGSPKPVLRADDNNMGNGCSQKLATANLLRFLLLVLIPCICALVL
  LLVILLSYVGTLQKVYFKSNGSEPLVTDGEIQGSDVILTNTIYNQSTVVSTAHPDQHVPA
  WTTDASLPGDQSHRNTSACMNITHSQCQMLPYHATLTPLLSVVRNMEMEKFLKFFTYLHR
  LSCYQHIMLFGCTLAFPECIIDGDDSHGLLPCRSFCEAAKEGCESVLGMVNYSWPDFLRC
  SQFRNQTESSNVSRICFSPQQENGKQLLCGRGENFLCASGICIPGKLQCNGYNDCDDWSD
  EAHCNCSENLFHCHTGKCLNYSLVCDGYDDCGDLSDEQNCDCNPTTEHRCGDGRCIAMEW
  VCDGDHDCVDKSDEVNCSCHSQGLVECRNGQCIPSTFQCDGDEDCKDGSDEENCSVIQTS
  CQEGDQRCLYNPCLDSCGGSSLCDPNNSLNNCSQCEPITLELCMNLPYNSTSYPNYFGHR
  TQKEASISWESSLFPALVQTNCYKYLMFFSCTILVPKCDVNTGEHIPPCRALCEHSKERC
  ESVLGIVGLQWPEDTDCSQFPEENSDNQTCLMPDEYVEECSPSHFKCRSGQCVLASRRCD
  GQADCDDDSDEENCGCKERDLWECPSNKQCLKHTVICDGFPDCPDYMDEKNCSFCQDDEL
  ECANHACVSRDLWCDGEADCSDSSDEWDCVTLSINVNSSSFLMVHRAATEHHVCADGWQE
  ILSQLACKQMGLGEPSVTKLIQEQEKEPRWLTLHSNWESLNGTTLHELLVNGQSCESRSK
  ISLLCTKQDCGRRPAARMNKRILGGRTSRPGRWPWQCSLQSEPSGHICGCVLIAKKWVLT
  VAHCFEGRENAAVWKVVLGINNLDHPSVFMQTRFVKTIILHPRYSRAVVDYDISIVELSE
  DISETGYVRPVCLPNPEQWLEPDTYCYITGWGHMGNKMPFKLQEGEVRIISLEHCQSYFD
  MKTITTRMICAGYESGTVDSCMGDSGGPLVCEKPGGRWTLFGLTSWGSVCFSKVLGPGVY
  SNVSYFVEWIKRQIYIQTFLLN

• Sequence length: 1042

Pathways

Reactome:

Physiological factors

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
Atrial fibrillation	Pathogenic	rs756399499	RCV003388932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic	rs756399499	RCV003388932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy, familial hypertrophic, 30, atrial	Pathogenic	rs756399499	RCV003882741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disorder	Pathogenic	rs756399499	RCV003388932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myocardial fibrosis	Pathogenic	rs756399499	RCV003388932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Preeclampsia/eclampsia 5	Pathogenic	rs387906894, rs387906895	RCV000023403 RCV000023404	★★★★☆ 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, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORIN-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRE-ECLAMPSIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
1-5 finger syndactyly	Syndactyly of fingers	CLINVAR_DG	28559208		★☆☆☆☆ Found in Text Mining only
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27756107, 29377176		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28516329, 30006288		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	24234652, 26048454		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	37640745	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24584697	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	24599027	Stimulate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35293286	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	18669922, 19919978, 34846782	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	30115125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27890770	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30518715	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30518715		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	11082206		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	11082206	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	39940775	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cenani-Lenz syndrome	Cenani-Lenz Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29212737		★☆☆☆☆ Found in Text Mining only
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	BEFREE	29198934		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21121903		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	20381006, 23664847, 30041615		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of nose	Congenital Anomaly Of Nose	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	11082206		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	30994901	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	ORPHANET_DG	24234652		★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11082206, 23152112		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	39191876	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23347191		★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	39191876	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	29696773	Associate	★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	23434834, 26259032		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	27730688		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28792647		★☆☆☆☆ Found in Text Mining only
Fingernail dysplasia	Fingernail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	37640745	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	11082206	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	18669922, 23372161, 25488193, 39191876	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	25488193		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30148170	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	11082206, 19919978	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	21216831	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23152112		★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	19919978	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	27005479	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11082206, 18669922, 19919978, 23372161, 25488193, 28861913, 31856714, 32828311, 34846782, 34962054, 35699180	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24828501	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11082206, 16216958, 17296875, 17485366, 18669922, 18716601, 22987923, 23372161, 25488193, 26259032, 28861913, 29391274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	16216958, 17296875, 18669922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23347191		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20381006, 39191876	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb Deformities Congenital	Congenital anomaly of limb	Pubtator	37640745	Associate	★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	23636941		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32675391	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36465624	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29885843		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23347191, 28718435		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	30352686		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23434834		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	35468848	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27005479	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	21814823, 21825986, 23637281, 28120340, 28350570, 28441759, 28516329, 28694075, 28823823, 28825343, 29068555, 29377176, 29421431, 30006288, 30133097, 31050101		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	24244707, 25894002	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	BEFREE	25305004, 28823823		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 17	Myasthenic Syndrome	UNIPROT_DG	24234652		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 17	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	26052878		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 17	Myasthenic Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	26052878, 37640745	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	24234652, 25305004		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	26052878		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	34579647	Associate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22398042, 27080994		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	28825343		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27730688, 29076589		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Odontome	Odontome	CTD_human_DG	16207730		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	39940775	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	21645651		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	27005479	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	21645651, 21646926, 23321396		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	30077757		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29885843, 31814850		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polysyndactyly	Polysyndactyly	CTD_human_DG	16207730		★☆☆☆☆ Found in Text Mining only
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Preeclampsia	Preeclampsia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA/ECLAMPSIA 5	Preeclampsia/eclampsia	UNIPROT_DG	22437503		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PREECLAMPSIA/ECLAMPSIA 5	Preeclampsia/eclampsia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteinuria	Proteinuria	Pubtator	39191876	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35918384	Associate	★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	ORPHANET_DG	21471202		★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	BEFREE	24594238, 26751728, 28477420, 30077757		★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	Pubtator	26751728, 29524275, 35052419, 37640745	Associate	★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SCLEROSTEOSIS 2	Sclerosteosis	UNIPROT_DG	21471202, 24234652		★☆☆☆☆ Found in Text Mining only
SCLEROSTEOSIS 2	Sclerosteosis	BEFREE	24234652, 29524275		★☆☆☆☆ Found in Text Mining only
SCLEROSTEOSIS 2	Sclerosteosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
SCLEROSTEOSIS 2	Sclerosteosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple syndactyly of fingers - first web	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	14678991		★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	22807154	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32675391	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CTD_human_DG	16207730		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	16963222, 28477420, 29524275, 30041615, 30077757, 31750994		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	29524275, 30041615	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly Cenani Lenz type	Syndactyly	GENOMICS_ENGLAND_DG	12868467		★☆☆☆☆ Found in Text Mining only
Syndactyly Cenani Lenz type	Syndactyly	BEFREE	20381006, 23636941, 24234652, 24924585, 26751728, 28559208, 29524275, 31750994		★☆☆☆☆ Found in Text Mining only
Syndactyly Cenani Lenz type	Syndactyly	UNIPROT_DG	20381006		★☆☆☆☆ Found in Text Mining only
Syndactyly Cenani Lenz type	Syndactyly	ORPHANET_DG	20381006, 23636941		★☆☆☆☆ Found in Text Mining only
Syndactyly Cenani Lenz type	Syndactyly	Pubtator	20381006, 26751728, 29524275, 30041615, 37640745	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly Cenani Lenz type	Syndactyly	CLINVAR_DG	28559208		★☆☆☆☆ Found in Text Mining only
Syndactyly Cenani Lenz type	Syndactyly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36465624	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29885843		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29885843		★☆☆☆☆ Found in Text Mining only
Total anomalous pulmonary venous return	Pulmonary Venous Return Anomaly	BEFREE	11082206		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22398042, 23347191		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	37537391	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	30518715	Associate	★☆☆☆☆ Found in Text Mining only