PHACTR1 (phosphatase and actin regulator 1)

Gene

• Entrez ID: 221692
• Gene name: Phosphatase and actin regulator 1
• Gene symbol: PHACTR1
• Synonyms (NCBI Gene): DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2
• Chromosome: 6
• Chromosome location: 6p24.1
• Summary: The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cel

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1228763	hsa-miR-196a	CLIP-seq
MIRT1228764	hsa-miR-196b	CLIP-seq
MIRT1228765	hsa-miR-2861	CLIP-seq
MIRT1228766	hsa-miR-3064-5p	CLIP-seq
MIRT1228767	hsa-miR-3124-3p	CLIP-seq
MIRT1228768	hsa-miR-3127-3p	CLIP-seq
MIRT1228769	hsa-miR-3649	CLIP-seq
MIRT1228770	hsa-miR-3652	CLIP-seq
MIRT1228771	hsa-miR-3679-3p	CLIP-seq
MIRT1228772	hsa-miR-370	CLIP-seq
MIRT1228773	hsa-miR-371-3p	CLIP-seq
MIRT1228774	hsa-miR-371b-3p	CLIP-seq
MIRT1228775	hsa-miR-3913-3p	CLIP-seq
MIRT1228776	hsa-miR-425	CLIP-seq
MIRT1228777	hsa-miR-4425	CLIP-seq
MIRT1228778	hsa-miR-4430	CLIP-seq
MIRT1228779	hsa-miR-4505	CLIP-seq
MIRT1228780	hsa-miR-450b-3p	CLIP-seq
MIRT1228781	hsa-miR-4530	CLIP-seq
MIRT1228782	hsa-miR-4648	CLIP-seq
MIRT1228783	hsa-miR-4731-5p	CLIP-seq
MIRT1228784	hsa-miR-4763-5p	CLIP-seq
MIRT1228785	hsa-miR-4787-5p	CLIP-seq
MIRT1228786	hsa-miR-4795-5p	CLIP-seq
MIRT1228787	hsa-miR-4799-5p	CLIP-seq
MIRT1228788	hsa-miR-489	CLIP-seq
MIRT1228789	hsa-miR-515-3p	CLIP-seq
MIRT1228790	hsa-miR-519e	CLIP-seq
MIRT1228791	hsa-miR-550a	CLIP-seq
MIRT1228792	hsa-miR-586	CLIP-seq
MIRT1228793	hsa-miR-634	CLIP-seq
MIRT1228794	hsa-miR-769-3p	CLIP-seq
MIRT1228763	hsa-miR-196a	CLIP-seq
MIRT1228764	hsa-miR-196b	CLIP-seq
MIRT1228765	hsa-miR-2861	CLIP-seq
MIRT1228766	hsa-miR-3064-5p	CLIP-seq
MIRT1228769	hsa-miR-3649	CLIP-seq
MIRT1228770	hsa-miR-3652	CLIP-seq
MIRT1228772	hsa-miR-370	CLIP-seq
MIRT1228773	hsa-miR-371-3p	CLIP-seq
MIRT1228774	hsa-miR-371b-3p	CLIP-seq
MIRT1228778	hsa-miR-4430	CLIP-seq
MIRT1228779	hsa-miR-4505	CLIP-seq
MIRT1228782	hsa-miR-4648	CLIP-seq
MIRT1228783	hsa-miR-4731-5p	CLIP-seq
MIRT1228784	hsa-miR-4763-5p	CLIP-seq
MIRT1228786	hsa-miR-4795-5p	CLIP-seq
MIRT1228789	hsa-miR-515-3p	CLIP-seq
MIRT1228790	hsa-miR-519e	CLIP-seq
MIRT1228791	hsa-miR-550a	CLIP-seq
MIRT1228793	hsa-miR-634	CLIP-seq
MIRT1228772	hsa-miR-370	CLIP-seq
MIRT1228769	hsa-miR-3649	CLIP-seq
MIRT1228782	hsa-miR-4648	CLIP-seq
MIRT1228786	hsa-miR-4795-5p	CLIP-seq
MIRT1228769	hsa-miR-3649	CLIP-seq
MIRT1228781	hsa-miR-4530	CLIP-seq
MIRT1228782	hsa-miR-4648	CLIP-seq
MIRT1228786	hsa-miR-4795-5p	CLIP-seq
MIRT1228793	hsa-miR-634	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0004864	Function	Protein phosphatase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0031032	Process	Actomyosin structure organization	IEA
GO:0031032	Process	Actomyosin structure organization	IMP	22976292
GO:0043149	Process	Stress fiber assembly	IBA
GO:0043149	Process	Stress fiber assembly	IEA
GO:0043149	Process	Stress fiber assembly	IMP	22976292
GO:0045202	Component	Synapse	IEA
GO:0048870	Process	Cell motility	IBA
GO:0048870	Process	Cell motility	IMP	22976292
GO:0140059	Process	Dendrite arborization	IEA
GO:0140059	Process	Dendrite arborization	ISS
GO:2001222	Process	Regulation of neuron migration	IEA
GO:2001222	Process	Regulation of neuron migration	ISS

Other IDs

• MIM: 608723
• HGNC: 20990
• e!Ensembl: ENSG00000112137

Protein

• UniProt ID: Q9C0D0
• Protein name: Phosphatase and actin regulator 1
• Protein function: Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation o
• PDB: 6ZEE, 6ZEF, 6ZEG, 6ZEH, 6ZEI, 6ZEJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02755	RPEL	139 → 161	RPEL repeat	Disordered
  PF02755	RPEL	423 → 446	RPEL repeat	Disordered
  PF02755	RPEL	461 → 484	RPEL repeat	Disordered
  PF02755	RPEL	499 → 520	RPEL repeat	Disordered

• Tissue specificity: TISSUE SPECIFICITY: Detected in umbilical vein endothelial cells. {ECO:0000269|PubMed:21939755}.
• Sequence:

  MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPI
  RRVRSKSDTPYLAEARISFNLGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIF
  KPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSISNEEDSLEN
  GQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL
  PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTT
  GSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLP
  EIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCR
  KDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI
  LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILIRFSDYVEVADAQDYDRRADK
  PWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP

• Sequence length: 580

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
Developmental and epileptic encephalopathy, 70	Pathogenic; Likely pathogenic	rs2127450867, rs1273417376, rs2546854717, rs868040089, rs1562114406, rs1562103192	RCV002227612 RCV002281626 RCV003335788 RCV003994837 RCV000754623 RCV000754624	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR TRAUMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON MIGRAINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY STENOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE CORONARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITHOUT AURA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYTIC STRABISMUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHACTR1-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aneurysm, Dissecting	Aortic Aneurysm	BEFREE	25420145, 27876132, 28753427, 30285053		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27187934, 29884117, 30293016, 31200082		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27187934, 29884117, 30293016, 31200082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	27187934, 29884117, 36364780	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23479725	Associate	★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	23042660		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27517945, 27876132, 27893421		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27893421	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	31200082		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	24262325		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30517918		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	32374345	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	CTD_human_DG	22683712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Migraine	Common Migraine	GWASDB_DG	23793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Migraine	Common Migraine	GWASCAT_DG	27322543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	21378990, 22751097, 26098115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25938970, 26098115, 27792790, 27876132, 27893421, 28720499, 28753427, 29784573, 30293016, 30777881, 31200082, 31278837		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	21378990, 22751097, 26098115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	22745674, 23561647, 25838425, 25938970, 26098115, 26982883, 27187934, 27517945, 27792790, 27876132, 27893421, 28720499, 28753427, 29784573, 29884117, 30293016, 30777881, 31200082, 31278837		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	22745674, 23394302, 23561647, 25838425, 25938970, 26086777, 26982883, 27187934, 27517945, 27893421, 28753427, 29884117, 30621952, 32374345, 34241534, 34961328, 36364780, 36814994, 40057183	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125, 24262325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387, 28714974, 28714975, 29212778, 30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Autosomal Dominant 1	Coronary artery disease	Pubtator	25838425	Associate	★☆☆☆☆ Found in Text Mining only
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1	Coronary artery disease	GWASDB_DG	23202125		★☆☆☆☆ Found in Text Mining only
Coronary Artery Dissection Spontaneous	Spontaneous coronary artery dissection	Pubtator	30621952, 31707208, 32374345, 32887874, 33319763	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	22152955, 23394302, 31972008	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282, 21378988, 21378990, 21846871, 22745674, 22751097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	21378988, 21378990, 21846871, 22745674, 22751097, 24262325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	22152955, 23394302, 23870195, 25938970, 26098115, 27792790, 27876132, 27893421, 28287809, 28720499, 28753427, 29784573, 30293016, 30777881, 31200082, 31278837		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Restenosis	Coronary restenosis	Pubtator	36814994	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	22745674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Stenosis	Coronary stenosis	Pubtator	22745674	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25838425		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36814994	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70	Epileptic encephalopathy	UNIPROT_DG	23033978, 30256902		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27457812		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	34758666	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	27792790, 30285053		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	27457812, 28135719		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	29784573		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30777881		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	29784573		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28753427	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	27876132, 28753427, 29448245, 30777881		★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27457812, 28135719		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30256902		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	25897834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	31972008	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	22683712, 23793025, 27182965, 27322543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	GWASDB_DG	22683712, 23793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	Pubtator	24674449, 25420145, 28753427, 28957430	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	BEFREE	30285053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	19198609, 26098115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	19198609, 26343387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	19198609		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	22144573, 22513829, 23561647, 25738804, 25838425, 26086777, 26098115, 27876132, 30293016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	25420145, 25838425, 26086777	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	32942043	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30256902		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30610379		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	23561647, 40057183	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28753427		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	28753427, 30621952	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	30256902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	ORPHANET_DG	30256902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations