PIEZO2 (piezo type mechanosensitive ion channel component 2)

Gene

• Entrez ID: 63895
• Gene name: Piezo type mechanosensitive ion channel component 2
• Gene symbol: PIEZO2
• Synonyms (NCBI Gene): C18orf30, C18orf58, DA3, DA5, DAIPT, FAM38B, FAM38B2, HsT748, HsT771, MWKS
• Chromosome: 18
• Chromosome location: 18p11.22-p11.21
• Summary: The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quic

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199842060	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs202104395	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs375812718	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs587777076	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777450	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587777451	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587777452	C>A,G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587777453	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777454	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs724159993	TCTAGTCC>-	Pathogenic	Stop gained, inframe indel, coding sequence variant, genic downstream transcript variant
rs745895175	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs757200280	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs764171255	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs773449118	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs878853135	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs878853137	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs878853138	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs878853139	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs878853140	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886039821	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886039822	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs886039823	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886039824	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1057519425	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519426	AGC>TTCG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519626	AAGTTCTCAGG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1377703869	A>C	Likely-pathogenic	Splice donor variant
rs1555621138	TCT>-	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555627917	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs1555630216	C>T	Pathogenic	Splice acceptor variant
rs1555639568	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555648288	C>T	Likely-pathogenic	Splice acceptor variant
rs1568069621	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1598431052	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1598479779	T>G	Pathogenic	Splice acceptor variant
rs1598482405	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005261	Function	Monoatomic cation channel activity	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
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:0008381	Function	Mechanosensitive monoatomic ion channel activity	ISS
GO:0009612	Process	Response to mechanical stimulus	ISS
GO:0016020	Component	Membrane	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032437	Component	Cuticular plate	ISS
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	ISS
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	ISS

Other IDs

• MIM: 613629
• HGNC: 26270
• e!Ensembl: ENSG00000154864

Protein

• UniProt ID: Q9H5I5
• Protein name: Piezo-type mechanosensitive ion channel component 2 (Protein FAM38B)
• 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:37590348). Piezo channels are homotrim
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15917	PIEZO	1366 → 1600	Piezo	Family
  PF12166	Piezo_RRas_bdg	2340 → 2749	Piezo non-specific cation channel, R-Ras-binding domain	Family

• Sequence:

  MASEVVCGLIFRLLLPICLAVACAFRYNGLSFVYLIYLLLIPLFSEPTKTTMQGHTGRLL
  KSLCFISLSFLLLHIIFHITLVSLEAQHRIAPGYNCSTWEKTFRQIGFESLKGADAGNGI
  RVFVPDIGMFIASLTIWLLCRNIVQKPVTDEAAQSNPEFENEELAEGEKIDSEEALIYEE
  DFNGGDGVEGELEESTKLKMFRRLASVASKLKEFIGNMITTAGKVVVTILLGSSGMMLPS
  LTSSVYFFVFLGLCTWWSWCRTFDPLLFSCLCVLLAIFTAGHLIGLYLYQFQFFQEAVPP
  NDYYARLFGIKSVIQTDCSSTWKIIVNPDLSWYHHANPILLLVMYYTLATLIRIWLQEPL
  VQDEGTKEEDKALACSPIQITAGRRRSLWYATHYPTDERKLLSMTQDDYKPSDGLLVTVN
  GNPVDYHTIHPSLPMENGPGKADLYSTPQYRWEPSDESSEKREEEEEEKEEFEEERSREE
  KRSIKVHAMVSVFQFIMKQSYICALIAMMAWSITYHSWLTFVLLIWSCTLWMIRNRRKYA
  MISSPFMVVYGNLLLILQYIWSFELPEIKKVPGFLEKKEPGELASKILFTITFWLLLRQH
  LTEQKALQEKEALLSEVKIGSQENEEKDEELQDIQVEGEPKEEEEEEAKEEKQERKKVEQ
  EEAEEEDEQDIMKVLGNLVVAMFIKYWIYVCGGMFFFVSFEGKIVMYKIIYMVLFLFCVA
  LYQVHYEWWRKILKYFWMSVVIYTMLVLIFIYTYQFENFPGLWQNMTGLKKEKLEDLGLK
  QFTVAELFTRIFIPTSFLLVCILHLHYFHDRFLELTDLKSIPSKEDNTIYRLAHPEGSLP
  DLTMMHLTASLEKPEVRKLAEPGEEKLEGYSEKAQKGDLGKDSEESEEDGEEEEESEEEE
  ETSDLRNKWHLVIDRLTVLFLKFLEYFHKLQVFMWWILELHIIKIVSSYIIWVSVKEVSL
  FNYVFLISWAFALPYAKLRRLASSVCTVWTCVIIVCKMLYQLQTIKPENFSVNCSLPNEN
  QTNIPFNELNKSLLYSAPIDPTEWVGLRKSSPLLVYLRNNLLMLAILAFEVTIYRHQEYY
  RGRNNLTAPVSRTIFHDITRLHLDDGLINCAKYFINYFFYKFGLETCFLMSVNVIGQRMD
  FYAMIHACWLIAVLYRRRRKAIAEIWPKYCCFLACIITFQYFICIGIPPAPCRDYPWRFK
  GASFNDNIIKWLYFPDFIVRPNPVFLVYDFMLLLCASLQRQIFEDENKAAVRIMAGDNVE
  ICMNLDAASFSQHNPVPDFIHCRSYLDMSKVIIFSYLFWFVLTIIFITGTTRISIFCMGY
  LVACFYFLLFGGDLLLKPIKSILRYWDWLIAYNVFVITMKNILSIGACGYIGTLVHNSCW
  LIQAFSLACTVKGYQMPAANSPCTLPSGEAGIIWDSICFAFLLLQRRVFMSYYFLHVVAD
  IKASQILASRGAELFQATIVKAVKARIEEEKKSMDQLKRQMDRIKARQQKYKKGKERMLS
  LTQEPGEGQDMQKLSEEDDEREADKQKAKGKKKQWWRPWVDHASMVRSGDYYLFETDSEE
  EEEEELKKEDEEPPRRSAFQFVYQAWITDPKTALRQRHKEKKRSAREERKRRRKGSKEGP
  VEWEDREDEPIKKKSDGPDNIIKRIFNILKFTWVLFLATVDSFTTWLNSISREHIDISTV
  LRIERCMLTREIKKGNVPTRESIHMYYQNHIMNLSRESGLDTIDEHPGAASGAQTAHRMD
  SLDSHDSISSEPTQCTMLYSRQGTTETIEEVEAEQEEEAGSTAPEPREAKEYEATGYDVG
  AMGAEEASLTPEEELTQFSTLDGDVEAPPSYSKAVSFEHLSFGSQDDSAGKNRMAVSPDD
  SRTDKLGSSILPPLTHELTASELLLKKMFHDDELEESEKFYVGQPRFLLLFYAMYNTLVA
  RSEMVCYFVIILNHMVSASMITLLLPILIFLWAMLSVPRPSRRFWMMAIVYTEVAIVVKY
  FFQFGFFPWNKNVEVNKDKPYHPPNIIGVEKKEGYVLYDLIQLLALFFHRSILKCHGLWD
  EDDMTESGMAREESDDELSLGHGRRDSSDSLKSINLAASVESVHVTFPEQQTAVRRKRSG
  SSSEPSQRSSFSSNRSQRGSTSTRNSSQKGSSVLSIKQKGKRELYMEKLQEHLIKAKAFT
  IKKTLEIYVPIKQFFYNLIHPEYSAVTDVYVLMFLADTVDFIIIVFGFWAFGKHSAAADI
  TSSLSEDQVPGPFLVMVLIQFGTMVVDRALYLRKTVLGKVIFQVILVFGIHFWMFFILPG
  VTERKFSQNLVAQLWYFVKCVYFGLSAYQIRCGYPTRVLGNFLTKSYNYVNLFLFQGFRL
  VPFLTELRAVMDWVWTDTTLSLSSWICVEDIYAHIFILKCWRESEKRYPQPRGQKKKKVV
  KYGMGGMIIVLLICIVWFPLLFMSLIKSVAGVINQPLDVSVTITLGGYQPIFTMSAQQSQ
  LKVMDQQSFNKFIQAFSRDTGAMQFLENYEKEDITVAELEGNSNSLWTISPPSKQKMIHE
  LLDPNSSFSVVFSWSIQRNLSLGAKSEIATDKLSFPLKNITRKNIAKMIAGNSTESSKTP
  VTIEKIYPYYVKAPSDSNSKPIKQLLSENNFMDITIILSRDNTTKYNSEWWVLNLTGNRI
  YNPNSQALELVVFNDKVSPPSLGFLAGYGIMGLYASVVLVIGKFVREFFSGISHSIMFEE
  LPNVDRILKLCTDIFLVRETGELELEEDLYAKLIFLYRSPETMIKWTREKTN

• Sequence length: 2752

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
Abnormality of the skeletal system	Pathogenic	rs2143421042	RCV001814570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Pathogenic	rs587777450, rs1568069621	RCV000855472 RCV000855470	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis, distal, with impaired proprioception and touch	Pathogenic; Likely pathogenic	rs1567958264, rs2144694433, rs2145486698, rs1276813954, rs587777450, rs2510758244, rs556779970, rs2510748903, rs1176993096, rs771300095, rs985379792, rs2510489205, rs2510758066, rs2035067825, rs886039821, rs886039822, rs886039823, rs886039824, rs2510256104, rs571918997, rs2510272028, rs1388570121, rs2510686669, rs2510766564, rs2510238432, rs2510637127, rs2042135430, rs2510781006, rs1057519425, rs1057519426, rs1057519626, rs1555630216, rs1555648288, rs1568069621, rs1598479779, rs764171255, rs1598431052, rs1203151992, rs1598482405, rs587777451, rs1189625999	RCV001775327 RCV001775328 RCV001824229 RCV001824230 RCV003147342 RCV002289376 RCV002467373 RCV002467374 RCV002790021 RCV003142397 RCV003142485 RCV003142513 RCV003147971 RCV003152965 RCV000256348 RCV000256261 RCV000256311 RCV000256344 RCV003326705 RCV004763644 RCV003314360 RCV003314390 RCV003340969 RCV003337951 RCV003388782 RCV003756642 RCV003756643 RCV003990144 RCV000415567 RCV000415610 RCV000415541 RCV000625965 RCV000625966 RCV000779589 RCV000791052 RCV000985071 RCV000984982 RCV000990072 RCV000990073 RCV005225329 RCV004799399	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	Pathogenic; Likely pathogenic	rs587777076, rs587777450, rs587777452, rs587777453, rs587777454, rs2143913299, rs2144002337, rs2144117079, rs878853135, rs1555621138, rs878853138, rs878853139, rs878853140, rs2510654397, rs587777451, rs1189625999	RCV000082866 RCV000224805 RCV000125480 RCV000125482 RCV000125483 RCV002250231 RCV002250232 RCV002250233 RCV000223972 RCV000224433 RCV000224843 RCV000224177 RCV000224516 RCV003388243 RCV005225329 RCV004799399	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital ichthyosiform erythroderma	Likely pathogenic	rs2040867555	RCV002244232	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal arthrogryposis	Pathogenic	rs1555621138	RCV000415170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exocrine pancreatic insufficiency	Likely pathogenic	rs2040867555	RCV002244232	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Failure to thrive	Likely pathogenic	rs2040867555	RCV002244232	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FAM38B-related disorder	Likely pathogenic; Pathogenic	rs2510489205	RCV003492822	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs771300095	RCV005927061	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Pathogenic	rs587777450, rs1568069621	RCV000855472 RCV000855470	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gordon syndrome	Pathogenic; Likely pathogenic	rs2034210482, rs2035219369, rs724159993, rs587777450, rs587777451, rs1555621138, rs2510766806, rs2511000590, rs587777452, rs990982191, rs1189625999, rs2041679279	RCV001336567 RCV001336566 RCV000125477 RCV000125478 RCV002283456 RCV001007806 RCV004555517 RCV004555518 RCV000778125 RCV005225329 RCV001253560 RCV004799399 RCV001293694	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heterotaxy, visceral, 4, autosomal	Likely pathogenic	rs2510549477	RCV004017186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Likely pathogenic	rs2144788058	RCV001840950	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marden-Walker syndrome	Likely pathogenic; Pathogenic	rs587777451, rs2510234186, rs2510767400, rs1598479779, rs1189625999	RCV000125479 RCV003225868 RCV003148309 RCV000791051 RCV005225329 RCV004799399	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PIEZO2-related disorder	Likely pathogenic; Pathogenic	rs978512526, rs2510697055, rs886039821, rs2510280879, rs2510999732, rs2510473419, rs2510257285, rs2510662499	RCV004542109 RCV002470123 RCV003987482 RCV003230811 RCV003324222 RCV004527871 RCV004539269 RCV004536957	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scoliosis	Likely pathogenic	rs2040867555	RCV002244232	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 3	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 5	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
autosomal recessive PIEZO2 associated disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral palsy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital contracture	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL JOINT CONTRACTURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ 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	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY EDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired deformity of finger	Mallet finger	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	BEFREE	31770315		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior Cruciate Ligament Injuries	Anterior cruciate ligament injury	Pubtator	23487782	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	35730328	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	27843126, 35906671	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINVAR_DG	27974811, 31680123		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	30578100, 30941898, 31770315		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	BEFREE	24726473, 27714920, 30938034, 30988732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	GENOMICS_ENGLAND_DG	24726473, 27912047		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	CLINVAR_DG	24726473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	ORPHANET_DG	24726473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	UNIPROT_DG	24726473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	ORPHANET_DG	23487782		★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH	Arthrogryposis, With Impaired Proprioception And Touch	UNIPROT_DG	27607563, 27653382		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH	Arthrogryposis, With Impaired Proprioception And Touch	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH	Arthrogryposis, With Impaired Proprioception And Touch	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30010255		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	31058608	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29432180, 31058608		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29432180, 31058608, 36077309	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30010255		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	24726473	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital finger flexion contractures	Congenital finger flexion contractures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	BEFREE	31770315		★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	GENOMICS_ENGLAND_DG	24726473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contracture	Contracture	Pubtator	23487782	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35730328	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30305456		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26169365		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	23487782, 27607563, 27974811, 28728825, 30285720, 30578100, 30988732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal arthrogryposis type 2B	Distal arthrogryposis	Pubtator	30285720	Associate	★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	17345626, 19571066, 23487782, 24649842, 24726473, 25712306, 27607563, 27653382, 27912047		★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27329839		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gordon syndrome	Gordon Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gordon syndrome	Gorlin syndrome	Pubtator	27843126	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gross motor development delay	Developmental delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	30305456		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28044050		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23487782	Associate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29432180, 31058608		★☆☆☆☆ 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	31058608		★☆☆☆☆ Found in Text Mining only
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	BEFREE	24726473, 27974811, 30938034, 30988732		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	GENOMICS_ENGLAND_DG	24726473		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	CLINVAR_DG	24726473		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	ORPHANET_DG	24726473		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	UNIPROT_DG	24726473		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marden-Walker syndrome	Marden-Walker Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	31015490		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	17345626, 19571066, 23487782, 24649842, 24726473, 25712306, 27607563, 27653382, 27912047		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27329839, 30010255		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASCAT_DG	21866343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASDB_DG	21866343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculomelic amyoplasia	Oculomelic Amyoplasia	BEFREE	23487782, 24726473, 25712306, 27974811, 30938034		★☆☆☆☆ Found in Text Mining only
Oculomelic amyoplasia	Oculomelic Amyoplasia	ORPHANET_DG	23487782		★☆☆☆☆ Found in Text Mining only
Oculomelic amyoplasia	Oculomelic Amyoplasia	UNIPROT_DG	23487782, 24726473		★☆☆☆☆ Found in Text Mining only
Oculomelic amyoplasia	Oculomelic Amyoplasia	CLINVAR_DG	24726473		★☆☆☆☆ Found in Text Mining only
Oculomelic amyoplasia	Oculomelic Amyoplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Oculomelic amyoplasia	Oculomelic Amyoplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	24726473, 27714920, 30938034, 30988732		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30578100		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	27843126	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis, unspecified	Scoliosis	BEFREE	28728825, 30578100, 31513102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylolysis	Spondylolysis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38216574	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36077309	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Zollinger-Ellison syndrome	Zollinger-Ellison syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only