PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group))

Gene

• Entrez ID: 9780
• Gene name: Piezo type mechanosensitive ion channel component 1 (Er blood group)
• Gene symbol: PIEZO1
• Synonyms (NCBI Gene): DHS, ER, FAM38A, LMPH3, LMPHM6, Mib
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776989	C>T	Pathogenic	Missense variant, coding sequence variant
rs587776990	C>G	Pathogenic	Missense variant, coding sequence variant
rs587776991	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587777764	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777765	G>A	Pathogenic	Missense variant, coding sequence variant
rs869025597	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs869025599	C>G,T	Pathogenic	Splice donor variant
rs1166021430	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1567659736	T>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006294	hsa-miR-10b-5p	Luciferase reporter assay	22322955
MIRT006294	hsa-miR-10b-5p	Luciferase reporter assay	22322955
MIRT006294	hsa-miR-10b-5p	Luciferase reporter assay	22322955
MIRT036601	hsa-miR-940	CLASH	23622248
MIRT490028	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT490027	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT490026	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT490025	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT490024	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490023	hsa-miR-5698	PAR-CLIP	23592263
MIRT490022	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490021	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490020	hsa-miR-4525	PAR-CLIP	23592263
MIRT490018	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT490019	hsa-miR-4447	PAR-CLIP	23592263
MIRT490017	hsa-miR-4472	PAR-CLIP	23592263
MIRT490016	hsa-miR-1275	PAR-CLIP	23592263
MIRT490015	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT490028	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT490027	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT490026	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT490025	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT490024	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490023	hsa-miR-5698	PAR-CLIP	23592263
MIRT490022	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490021	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490020	hsa-miR-4525	PAR-CLIP	23592263
MIRT490018	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT490019	hsa-miR-4447	PAR-CLIP	23592263
MIRT490017	hsa-miR-4472	PAR-CLIP	23592263
MIRT490016	hsa-miR-1275	PAR-CLIP	23592263
MIRT490015	hsa-miR-4665-5p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005261	Function	Monoatomic cation channel activity	IBA
GO:0005261	Function	Monoatomic cation channel activity	ISS
GO:0005515	Function	Protein binding	IPI	24798994, 28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	20016066
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	ISS
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IBA
GO:0008381	Function	Mechanosensitive monoatomic ion channel activity	IEA
GO:0010831	Process	Positive regulation of myotube differentiation	IMP	29799007
GO:0016020	Component	Membrane	IEA
GO:0031258	Component	Lamellipodium membrane	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032437	Component	Cuticular plate	ISS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0033625	Process	Positive regulation of integrin activation	IMP	20016066
GO:0033634	Process	Positive regulation of cell-cell adhesion mediated by integrin	IMP	20016066
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042995	Component	Cell projection	IEA
GO:0050982	Process	Detection of mechanical stimulus	IBA
GO:0071260	Process	Cellular response to mechanical stimulus	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0140135	Function	Mechanosensitive monoatomic cation channel activity	IDA	25955826

Other IDs

• MIM: 611184
• HGNC: 28993
• e!Ensembl: ENSG00000103335

Protein

• UniProt ID: Q92508
• Protein name: Piezo-type mechanosensitive ion channel component 1 (Membrane protein induced by beta-amyloid treatment) (Mib) (Protein FAM38A)
• Protein function: Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain (PubMed:23479567, PubMed:23695678, PubMed:2595
• PDB: 8YEZ, 8YFC, 8YFG, 8ZU3, 8ZU8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15917	PIEZO	1235 → 1465	Piezo	Family
  PF12166	Piezo_RRas_bdg	2111 → 2519	Piezo non-specific cation channel, R-Ras-binding domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in numerous tissues. In normal brain, expressed exclusively in neurons, not in astrocytes. In Alzheimer disease brains, expressed in about half of the activated astrocytes located around classical senile plaques. In Parkinson
• Sequence:

  MEPHVLGAVLYWLLLPCALLAACLLRFSGLSLVYLLFLLLLPWFPGPTRCGLQGHTGRLL
  RALLGLSLLFLVAHLALQICLHIVPRLDQLLGPSCSRWETLSRHIGVTRLDLKDIPNAIR
  LVAPDLGILVVSSVCLGICGRLARNTRQSPHPRELDDDERDVDASPTAGLQEAATLAPTR
  RSRLAARFRVTAHWLLVAAGRVLAVTLLALAGIAHPSALSSVYLLLFLALCTWWACHFPI
  STRGFSRLCVAVGCFGAGHLICLYCYQMPLAQALLPPAGIWARVLGLKDFVGPTNCSSPH
  ALVLNTGLDWPVYASPGVLLLLCYATASLRKLRAYRPSGQRKEAAKGYEARELELAELDQ
  WPQERESDQHVVPTAPDTEADNCIVHELTGQSSVLRRPVRPKRAEPREASPLHSLGHLIM
  DQSYVCALIAMMVWSITYHSWLTFVLLLWACLIWTVRSRHQLAMLCSPCILLYGMTLCCL
  RYVWAMDLRPELPTTLGPVSLRQLGLEHTRYPCLDLGAMLLYTLTFWLLLRQFVKEKLLK
  WAESPAALTEVTVADTEPTRTQTLLQSLGELVKGVYAKYWIYVCAGMFIVVSFAGRLVVY
  KIVYMFLFLLCLTLFQVYYSLWRKLLKAFWWLVVAYTMLVLIAVYTFQFQDFPAYWRNLT
  GFTDEQLGDLGLEQFSVSELFSSILVPGFFLLACILQLHYFHRPFMQLTDMEHVSLPGTR
  LPRWAHRQDAVSGTPLLREEQQEHQQQQQEEEEEEEDSRDEGLGVATPHQATQVPEGAAK
  WGLVAERLLELAAGFSDVLSRVQVFLRRLLELHVFKLVALYTVWVALKEVSVMNLLLVVL
  WAFALPYPRFRPMASCLSTVWTCVIIVCKMLYQLKVVNPQEYSSNCTEPFPNSTNLLPTE
  ISQSLLYRGPVDPANWFGVRKGFPNLGYIQNHLQVLLLLVFEAIVYRRQEHYRRQHQLAP
  LPAQAVFASGTRQQLDQDLLGCLKYFINFFFYKFGLEICFLMAVNVIGQRMNFLVTLHGC
  WLVAILTRRHRQAIARLWPNYCLFLALFLLYQYLLCLGMPPALCIDYPWRWSRAVPMNSA
  LIKWLYLPDFFRAPNSTNLISDFLLLLCASQQWQVFSAERTEEWQRMAGVNTDRLEPLRG
  EPNPVPNFIHCRSYLDMLKVAVFRYLFWLVLVVVFVTGATRISIFGLGYLLACFYLLLFG
  TALLQRDTRARLVLWDCLILYNVTVIISKNMLSLLACVFVEQMQTGFCWVIQLFSLVCTV
  KGYYDPKEMMDRDQDCLLPVEEAGIIWDSVCFFFLLLQRRVFLSHYYLHVRADLQATALL
  ASRGFALYNAANLKSIDFHRRIEEKSLAQLKRQMERIRAKQEKHRQGRVDRSRPQDTLGP
  KDPGLEPGPDSPGGSSPPRRQWWRPWLDHATVIHSGDYFLFESDSEEEEEAVPEDPRPSA
  QSAFQLAYQAWVTNAQAVLRRRQQEQEQARQEQAGQLPTGGGPSQEVEPAEGPEEAAAGR
  SHVVQRVLSTAQFLWMLGQALVDELTRWLQEFTRHHGTMSDVLRAERYLLTQELLQGGEV
  HRGVLDQLYTSQAEATLPGPTEAPNAPSTVSSGLGAEEPLSSMTDDMGSPLSTGYHTRSG
  SEEAVTDPGEREAGASLYQGLMRTASELLLDRRLRIPELEEAELFAEGQGRALRLLRAVY
  QCVAAHSELLCYFIIILNHMVTASAGSLVLPVLVFLWAMLSIPRPSKRFWMTAIVFTEIA
  VVVKYLFQFGFFPWNSHVVLRRYENKPYFPPRILGLEKTDGYIKYDLVQLMALFFHRSQL
  LCYGLWDHEEDSPSKEHDKSGEEEQGAEEGPGVPAATTEDHIQVEARVGPTDGTPEPQVE
  LRPRDTRRISLRFRRRKKEGPARKGAAAIEAEDREEEEGEEEKEAPTGREKRPSRSGGRV
  RAAGRRLQGFCLSLAQGTYRPLRRFFHDILHTKYRAATDVYALMFLADVVDFIIIIFGFW
  AFGKHSAATDITSSLSDDQVPEAFLVMLLIQFSTMVVDRALYLRKTVLGKLAFQVALVLA
  IHLWMFFILPAVTERMFNQNVVAQLWYFVKCIYFALSAYQIRCGYPTRILGNFLTKKYNH
  LNLFLFQGFRLVPFLVELRAVMDWVWTDTTLSLSSWMCVEDIYANIFIIKCSRETEKKYP
  QPKGQKKKKIVKYGMGGLIILFLIAIIWFPLLFMSLVRSVVGVVNQPIDVTVTLKLGGYE
  PLFTMSAQQPSIIPFTAQAYEELSRQFDPQPLAMQFISQYSPEDIVTAQIEGSSGALWRI
  SPPSRAQMKRELYNGTADITLRFTWNFQRDLAKGGTVEYANEKHMLALAPNSTARRQLAS
  LLEGTSDQSVVIPNLFPKYIRAPNGPEANPVKQLQPNEEADYLGVRIQLRREQGAGATGF
  LEWWVIELQECRTDCNLLPMVIFSDKVSPPSLGFLAGYGIMGLYVSIVLVIGKFVRGFFS
  EISHSIMFEELPCVDRILKLCQDIFLVRETRELELEEELYAKLIFLYRSPETMIKWTREK
  E

• Sequence length: 2521

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
Blood group, ER	Pathogenic	rs587776992, rs587776988	RCV005018795 RCV005016344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Likely pathogenic; Pathogenic	rs72811487, rs759026521, rs776709730, rs1430652756, rs587776988, rs587776992, rs587776987, rs587776989, rs587776990, rs587776991, rs1597457977, rs1904552378, rs1904821405	RCV004820884 RCV001849890 RCV002286446 RCV003444070 RCV004555187 RCV000049237 RCV000049231 RCV000049232 RCV000049233 RCV000049234 RCV000049236 RCV001029751 RCV001257445 RCV001257446	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diffuse lymphatic malformation	Likely pathogenic	rs2507853082	RCV004018307	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ER BLOOD GROUP SYSTEM, ER(a-b-)	Likely pathogenic; Pathogenic	rs72811487	RCV003152634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops fetalis	Likely pathogenic	rs1904291954, rs914435870	RCV001257387 RCV001257386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphatic malformation 6	Likely pathogenic; Pathogenic	rs72811487, rs1161335800, rs1905219617, rs776709730, rs869025596, rs869025597, rs869025598, rs869025599, rs869025600, rs869025601, rs2507899500, rs2507869911, rs2507861194, rs1163772841, rs868591838, rs2507854281, rs922414644, rs587776992, rs934897228, rs1567659736, rs1166021430, rs587776988, rs749976222, rs1904297127, rs774561483, rs1904552378, rs1904821405, rs1904304634	RCV003147633 RCV004555888 RCV002272653 RCV002286446 RCV000208769 RCV000208750 RCV000208759 RCV000208768 RCV000208762 RCV000208773 RCV003147850 RCV003153144 RCV003233377 RCV003236246 RCV003236247 RCV004555202 RCV004555203 RCV003444239 RCV001029734 RCV000735789 RCV000735788 RCV005016344 RCV003492224 RCV001172313 RCV001250671 RCV001257445 RCV001257446 RCV003323839	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs2142762329, rs2142820621, rs587776988	RCV001376012 RCV001375989 RCV005357426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIEZO1-related disorder	Likely pathogenic; Pathogenic	rs72811487, rs1161335800, rs745674960, rs1430652756, rs2507840834, rs1027603469, rs2507926524, rs2507908738, rs587776992, rs587776988	RCV004740710 RCV003416451 RCV003418353 RCV003406082 RCV003391663 RCV003403050 RCV003394412 RCV003405907 RCV005250057 RCV004739328	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thickened nuchal skin fold	Likely pathogenic	rs1904291954, rs914435870	RCV001257387 RCV001257386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hemolytic anemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic anemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyhydramnios	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	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
XEROCYTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	30240870		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	8225325		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	10720205		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	10720205		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	23972840	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	26387913, 36595486, 39304946	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	28716860	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	34014839	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	26387913, 26971963, 31737919, 9827909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Congenital	Anemia	BEFREE	11787034, 12749034, 17253968, 26178367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	BEFREE	31646528		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30194266, 31704174		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	15086350		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10720205		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30194266, 31704174		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19167444, 21084121		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	11053265, 12492815		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	36882369	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	34489534	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30010255		★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	32675337	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25666479		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33210711, 34979904, 35351580	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30010255		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40724850	Associate	★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	12409727		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8850247		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25193853, 32152662, 36080197	Associate	★☆☆☆☆ Found in Text Mining only
Compensated hemolytic anemia	Hemolytic anemia	BEFREE	11001917		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9785589		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28670382		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	29735991		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	31040790		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28731145, 30583016		★☆☆☆☆ Found in Text Mining only
Dehydrated hereditary stomatocytosis	Dehydrated Hereditary Stomatocytosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA	Xerocytosis	UNIPROT_DG	22529292, 23479567, 23487776, 23581886, 23695678, 23973043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA	Xerocytosis	GENOMICS_ENGLAND_DG	22529292, 23581886, 26387913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA	Xerocytosis	CLINVAR_DG	23479567, 23695678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Hereditary xerocytosis	Pubtator	22529292, 23487776, 23695678, 23972840, 25242456, 26333996, 26387913, 28121068, 28716860, 29225250, 30187933, 30655378, 31091145, 31413092, 31670187, 31737919, 32636802, 33837027, 33887194, 34201899, 36595486, 39304946, 40320770	Associate	★☆☆☆☆ Found in Text Mining only
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema	Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, And Perinatal Edema	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating Diseases	BEFREE	31596529		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31838121		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26971963, 31838121		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29225250, 32636802	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30442459		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	26333996, 30655378, 32675337	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35608274	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	37261355	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	33597646	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	37741866	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10720205, 30344046		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32675337, 39513613	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30344046		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30344046, 30465758		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32675337, 39513613	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	26333996, 30244526		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XII	Glycogen storage disease	Pubtator	33887194, 36882369	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28670382		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	26971963		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	29225250	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	26971963		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	30655378	Associate	★☆☆☆☆ Found in Text Mining only
Hennekam lymphangiectasia lymphedema syndrome	Hennekam syndrome	Pubtator	26333996, 26387913, 34489534, 35606495	Associate	★☆☆☆☆ Found in Text Mining only
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	Hennekam lymphangiectasia-lymphedema syndrome	BEFREE	26333996, 30930797, 31028252		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	26333996	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops Fetalis	Hydrops Fetalis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	26333996, 30244526, 30930797, 31028252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperferritinemia	Hyperferritinemia	Pubtator	30655378	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	27515482	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	30655378	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27515482, 28670382, 30562052, 31704174		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28705727		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35606793, 37817199	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29396846, 31737919		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	29396846, 30655378, 31737919, 36595486	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34360605	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29225250	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22792288	Inhibit	★☆☆☆☆ Found in Text Mining only
LYMPHATIC MALFORMATION 6	Lymphatic Malformation	GENOMICS_ENGLAND_DG	22529292, 26387913, 30712880		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHATIC MALFORMATION 6	Lymphatic Malformation	UNIPROT_DG	26333996		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHATIC MALFORMATION 6	Lymphatic Malformation	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LYMPHATIC MALFORMATION 6	Lymphatic Malformation	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphedema	Lymphedema	Pubtator	34656527	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25666479		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22508765, 31322184		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29683214		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30010255		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29412913, 29923292, 30010255		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31845298, 37958687	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	9785589		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	26387913		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35606793	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	27515482	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28670382		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11371029, 25666479, 30010255, 30240870, 30344046		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11371029		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31263454		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	28731145, 30583016, 36835440	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	31290742		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31290742		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29065102		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29712913		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31845298		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31845298	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	29520816		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37261355	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	30482854		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22508765, 31322184		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31186017		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11165717, 12455817		★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	29757938	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	22792288		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	22792288	Inhibit	★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	34201899	Associate	★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	16720212		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32985688	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29683214		★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	GENOMICS_ENGLAND_DG	22529292, 23581886		★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	BEFREE	28728825		★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	BEFREE	30930797		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29757938		★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	40320770	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	36595486	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	28416610, 30655378, 36595486, 39304946	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	38184690, 39237075	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neck Obstruction	Urinary bladder neck obstruction	Pubtator	39237075	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Overactive	Overactive bladder	Pubtator	39237075	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	33087929, 34358671	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	GWASCAT_DG	30566020, 30998689		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	35968892	Associate	★☆☆☆☆ Found in Text Mining only
Xerocytosis	Xerocytosis	BEFREE	11001917, 11787034, 12749034, 17253968, 22529292, 22790400, 23479567, 23487776, 23695678, 25242456, 26178367, 26333996, 26387913, 26971963, 27756835, 28121068, 28716860, 28728821, 29331020, 29576450, 29755372, 30867417, 30885080, 31040790, 31091145, 31413092, 31624108, 31737919, 9718354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xerocytosis	Xerocytosis	GENOMICS_ENGLAND_DG	22529292, 23581886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xerocytosis	Xerocytosis	ORPHANET_DG	22529292, 23695678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations