TECTA (tectorin alpha)

Gene

• Entrez ID: 7007
• Gene name: Tectorin alpha
• Gene symbol: TECTA
• Synonyms (NCBI Gene): DFNA12, DFNA8, DFNB21
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909058	A>G	Pathogenic	Coding sequence variant, missense variant
rs121909059	T>A	Pathogenic	Coding sequence variant, missense variant
rs121909060	G>C	Pathogenic	Coding sequence variant, missense variant
rs121909061	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs121909062	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121909063	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs139165033	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140236996	C>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs142486386	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142948530	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs144343770	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144682235	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145898158	C>T	Pathogenic	Coding sequence variant, missense variant
rs148440178	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148619105	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199638531	G>A	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs267607107	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs281865415	C>T	Pathogenic	Coding sequence variant, missense variant
rs368050948	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs368627411	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs372925383	G>A,T	Pathogenic	Splice donor variant
rs727503467	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs746386175	G>T	Likely-pathogenic	Splice acceptor variant
rs753896285	G>A	Pathogenic	Coding sequence variant, missense variant
rs760574657	C>T	Pathogenic	Coding sequence variant, stop gained
rs764153521	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs764424917	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs768295360	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, missense variant
rs768993431	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs772606235	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773573968	GG>-,G	Pathogenic	Coding sequence variant, frameshift variant
rs876657661	A>T	Likely-pathogenic	Splice acceptor variant
rs878853224	A>G	Pathogenic	Missense variant, coding sequence variant
rs955468054	C>A	Pathogenic	Stop gained, coding sequence variant
rs966621865	G>A	Pathogenic	Splice donor variant
rs1057518037	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519150	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057520561	T>A	Pathogenic	Missense variant, coding sequence variant
rs1229070290	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1281790755	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1330220728	GGTG>-	Pathogenic	Stop gained, coding sequence variant
rs1555123909	C>A	Pathogenic	Coding sequence variant, stop gained
rs1555125138	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555129231	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565518246	CGCTGGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565519673	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1565522273	G>A	Pathogenic	Coding sequence variant, missense variant
rs1565536400	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565541888	G>A	Pathogenic	Intron variant
rs1591437831	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1591462832	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs1591464207	T>C	Likely-pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9590290
GO:0016020	Component	Membrane	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071944	Component	Cell periphery	IEA
GO:0098552	Component	Side of membrane	IEA

Other IDs

• MIM: 602574
• HGNC: 11720
• e!Ensembl: ENSG00000109927

Protein

• UniProt ID: O75443
• Protein name: Alpha-tectorin
• Protein function: One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of spec
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06119	NIDO	163 → 251	Nidogen-like	Family
  PF00094	VWD	322 → 478	von Willebrand factor type D domain	Family
  PF08742	C8	523 → 591	C8 domain	Domain
  PF01826	TIL	597 → 650	Trypsin Inhibitor like cysteine rich domain	Domain
  PF12714	TILa	651 → 706	TILa domain	Domain
  PF00094	VWD	713 → 866	von Willebrand factor type D domain	Family
  PF08742	C8	911 → 980	C8 domain	Domain
  PF01826	TIL	984 → 1036	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	1100 → 1258	von Willebrand factor type D domain	Family
  PF08742	C8	1300 → 1368	C8 domain	Domain
  PF01826	TIL	1372 → 1425	Trypsin Inhibitor like cysteine rich domain	Domain
  PF12714	TILa	1426 → 1480	TILa domain	Domain
  PF00094	VWD	1487 → 1639	von Willebrand factor type D domain	Family
  PF08742	C8	1690 → 1757	C8 domain	Domain
  PF00100	Zona_pellucida	1806 → 2057	Zona pellucida-like domain	Family

• Sequence:

  MNYSSFLRIWVSFIFALVQHQAQPRELMYPFWQNDTKTPKVDDGSSSEIKLAIPVFFFGV
  PYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFVAPFWADVHNGIRGEIYYRETMEPA
  ILKRATKDIRKYFKDMATFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTL
  FNYYEINWTTGTASGGDPLTGLGGVMAQAGFNGGNLTNFFSLPGSRTPEIVNIQETTNVN
  VPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTVKCRCLDFNNEIYCQEASCS
  PYEVCEPKGKFFYCSAVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPF
  FSVEAKNEHRRGSAVSWVKELSVEVNGYKILIPKGSYGRVKVNDLVTSLPVTLDLGTVKI
  YQSGISTAVETDFGLLVTFDGQHYASISVPGSYINSTCGLCGNYNKNPLDDFLRPDGRPA
  MSVLDLGESWRVYHADWKCDSGCVDNCTQCDAATEALYFGSDYCGFLNKTDGPLWECGTV
  VDPTAFVHSCVYDLCSVRDNGTLLCQAIQAYALVCQALGIPIGDWRTQTGCVSTVQCPSF
  SHYSVCTSSCPDTCSDLTASRNCATPCTEGCECNQGFVLSTSQCVPLHKCGCDFDGHYYT
  MGEFFWATANCTVQCLCEEGGDVYCFNKTCGSGEVCAVEDGYQGCFPKRETVCLLSQNQV
  LHTFDGASYAFPSEFSYTLLKTCPERPEYLEIDINKKKPDAGPAWLRGLRILVADQEVKI
  GGIGASEVKLNGQEVELPFFHPSGKLEIYRNKNSTTVESKGVVTVQYSDIGLLYIRLSTT
  YFNCTGGLCGFYNANASDEFCLPNGKCTDNLAVFLESWTTFEEICNGECGDLLKACNNDS
  ELLKFYRSRSRCGIINDPSNSSFLECHGVVNVTAYYRTCLFRLCQSGGNESELCDSVARY
  ASACKNADVEVGPWRTYDFCPLECPENSHFEECITCTETCETLTLGPICVDSCSEGCQCD
  EGYALLGSQCVTRSECGCNFEGHQLATNETFWVDLDCQIFCYCSGTDNRVHCETIPCKDD
  EYCMEEGGLYYCQARTDASCIVSGYGHYLTFDGFPFDFQTSCPLILCTTGSRPSSDSFPK
  FVVTAKNEDRDPSLALWVKQVDVTVFGYSIVIHRAYKHTVLVNSERLYLPLKLGQGKINI
  FSFGFHVVVETDFGLKVVYDWKTFLSITVPRSMQNSTYGLCGRYNGNPDDDLEMPMGLLA
  SSVNEFGQSWVKRDTFCQVGCGDRCPSCAKVEGFSKVQQLCSLIPNQNAAFSKCHSKVNP
  TFFYKNCLFDSCIDGGAVQTACSWLQNYASTCQTQGITVTGWRNYTSCTVTCPPNSHYES
  CVSVCQPRCAAIRLKSDCSHYCVEGCHCDAGYVLNGKSCILPHSCGCYSDGKYYEPKQLF
  WNSDCTRRCRCFRRNVIQCDPRQCKSDEECALRNGVRGCFSTKTSYCLAAGGGVFRTFDG
  AFLRFPANCAFVLSTICQKLPDISFQLIINFDKWSAPNLTIISPVYFYINEEQILINDRN
  TVKVNGTQVNVPFITGLATKIYSSEGFLVIDTSPDIQIYYNGFNVIKISISERLQNKVCG
  LCGNFNGDLTDDYVTLRGKPVVSSVVLAQSWKTNGMQKRPLAPSCNELQFSQYAAMCDNV
  HIQKMQGDGYCLKLTDMKGFFQPCYGLLDPLPFYESCYLDGCYSHKKFQLCGSLAAYGEA
  CRSFGILSTEWIEKENCSGVVEDPCVGADCPNRTCELGNGRELCGCIEPPPYGNNSHDII
  DAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCTGIEGEDFISFQINNTKGNCGNI
  VQSNGTHIMYKNTLWIESANNTGNIITRDRTINVEFSCAYELDIKISLDSVVKPMLSVIN
  LTVPTQEGSFITKMALYKNASYKHPYRQGEVVLTTRDVLYVGVFVVGADATHLILTLNKC
  YATPTRDSNDKLRYFIIEGGCQNLKDNTIGIEENAVSLTCRFHVTVFKFIGDYDEVHLHC
  AVSLCDSEKYSCKITCPHNSRIATDYTKEPKEQIISVGPIRRKRLDWCEDNGGCEQICTS
  RVDGPLCSCVTGTLQEDGKSCRASNSSMELQVWTLLLIMIQISLWHFVYKSGTTS

• Sequence length: 2155

Pathways

Reactome:

Post-translational modification: synthesis of GPI-anchored proteins

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
Autosomal dominant nonsyndromic hearing loss 12	Likely pathogenic; Pathogenic	rs1947056659, rs2135128814, rs2135050168, rs1380941851, rs2496977483, rs121909058, rs966621865, rs121909059, rs121909060, rs121909061, rs121909063, rs1591462832, rs753896285, rs140236996, rs878853224, rs763872132, rs2496916736, rs199638531, rs1947057220, rs1455568421	RCV001327987 RCV002250765 RCV002503291 RCV002287280 RCV003984868 RCV000007429 RCV005357088 RCV000007431 RCV000007432 RCV000007435 RCV000007437 RCV000007438 RCV000007439 RCV000225094 RCV000225064 RCV000225015 RCV004018045 RCV004585135 RCV005044882 RCV001089557 RCV001196258	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 21	Likely pathogenic; Pathogenic	rs2135050168, rs1946605498, rs267602733, rs764994708, rs2496925088, rs374455045, rs769965398, rs966621865, rs757886838, rs764153521, rs199638531, rs1565519673, rs368050948, rs1565541888, rs773573968, rs1565536400	RCV002503291 RCV001809330 RCV002251127 RCV002463191 RCV002444382 RCV004786805 RCV004786838 RCV005357088 RCV004585136 RCV000454140 RCV005044882 RCV000681541 RCV000681543 RCV000681542 RCV000761611 RCV000770874	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral sensorineural hearing impairment	Pathogenic	rs2135128814	RCV001730849	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs1565522273	RCV000679840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, neurosensory autosomal recessive 21	Pathogenic	rs966621865, rs1591437831, rs1281790755	RCV000007430 RCV000007433 RCV000007434	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic	rs2135060276	RCV001814387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs1448260319, rs34851638, rs1057519150	RCV001375375 RCV001375374 RCV001375376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1565522273, rs1565519673, rs368050948, rs1565541888, rs773573968	RCV001291354 RCV001291352 RCV001291355 RCV001291356 RCV001291353	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meniere disease	Likely pathogenic	rs2135120291	RCV002267783	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs140236996, rs1330220728	RCV006270231 RCV006255177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Likely pathogenic; Pathogenic	rs121909063, rs2496881864, rs199638531	RCV001544521 RCV004018256 RCV001089678	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs727503467, rs760574657, rs876657661, rs140236996, rs2496906689, rs2496992226, rs199638531, rs768295360, rs764424917, rs1555129231, rs1229070290, rs1591464171	RCV000151989 RCV000220688 RCV000214219 RCV000826186 RCV004018187 RCV004018206 RCV000602678 RCV000610814 RCV000612095 RCV000615704 RCV000826130 RCV000826050	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TECTA-related disorder	Likely pathogenic	rs1315696593, rs2496987091, rs2496881880	RCV003412344 RCV003402134 RCV003397451	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital sensorineural hearing impairment	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 12	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 21	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	22796475, 24378291		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	22534022, 23226338, 23767834, 24586623, 24816743, 33976695, 34997062, 9150164	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Deafness	Pubtator	23936151	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Autosomal Dominant 12	Deafness	Pubtator	37927186	Associate	★☆☆☆☆ Found in Text Mining only
Deafness autosomal dominant nonsyndromic sensorineural 22	Autosomal dominant sensorineural deafness	Pubtator	24586623	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 21	Deafness	Pubtator	28012541	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 10	Deafness	BEFREE	27142990		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 12	Deafness	UNIPROT_DG	12746400, 9949200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 12	Deafness	CLINVAR_DG	20947814, 21520338, 21917145, 22718023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 12	Deafness	GENOMICS_ENGLAND_DG	9949200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 12	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 13	Deafness	BEFREE	22796475, 24378291, 27142990		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 21	Deafness	GENOMICS_ENGLAND_DG	9949200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 21	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 21	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	10739769, 16718611, 19888295, 21520338, 23936151, 24586623, 25008054, 28012541, 29293505, 30935366, 31554319, 32682410, 32864763, 34753855, 37927186, 9718342	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Conductive	Conductive hearing loss	Pubtator	24378291	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	16718611, 23936151, 28946916, 31554319, 35580552, 38254107	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	17136632	Stimulate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	24655070		★☆☆☆☆ Found in Text Mining only
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	9503015		★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32241263	Associate	★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11087000, 11711860, 12746400, 15319541, 15995703, 17431902, 18022253, 20142329, 21520338, 22718023, 24363064, 25719458, 25758224, 26806019, 28012541, 9590290, 9949200		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	24586623, 25008054, 9503015		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	17136632, 19005249, 22037481, 25413827, 28946916, 9763681		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	29667327	Associate	★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	22796475		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	22796475		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	31725169		★☆☆☆☆ Found in Text Mining only