MYO15A (myosin XVA)

Gene

• Entrez ID: 51168
• Gene name: Myosin XVA
• Gene symbol: MYO15A
• Synonyms (NCBI Gene): DFNB3, MYO15
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs926074	G>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs116833707	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs117071200	G>A,T	Likely-pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs121908965	A>G,T	Pathogenic	Intron variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs121908966	A>T	Pathogenic	Intron variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs121908967	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs121908968	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs121908970	C>A,T	Pathogenic, benign-likely-benign, benign	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs121908971	G>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs121908972	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs138861831	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs141475629	C>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs189255177	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs191171943	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs191710555	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs199537186	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs199621031	G>A	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199783506	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs200146361	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, non coding transcript variant, coding sequence variant
rs200424851	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs200532919	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs200623501	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs201028204	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs201234482	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant, coding sequence variant, missense variant
rs201734915	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs201978571	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant, 3 prime UTR variant
rs370351502	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, genic downstream transcript variant
rs372466080	C>T	Pathogenic, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs373520843	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs374742590	G>A,T	Pathogenic	Splice donor variant
rs375290498	G>A,T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, stop gained, coding sequence variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs376451611	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs377385081	G>A	Pathogenic	Intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs397517285	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs397517286	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs546575046	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs549138385	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs727503309	G>A	Pathogenic	Splice donor variant
rs727503312	C>T	Likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant, genic downstream transcript variant
rs727503315	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs727503316	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs727504995	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs746051220	G>C,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs748108031	G>A,T	Pathogenic	Splice donor variant
rs748868741	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs749136456	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs749465098	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs751142446	G>A,T	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs754865266	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs757070287	->GG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs759523751	C>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs760461823	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs760980785	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs763975867	T>A,C	Likely-pathogenic, uncertain-significance	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs765468034	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766187994	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs767426819	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs769260536	C>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs769884586	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs771720649	G>C,T	Pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs772536599	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs779077039	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs779093807	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs780170125	ACAG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs781546107	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794729637	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs864309607	AGCCGGGG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs866595552	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876657708	G>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs878853227	G>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs878854410	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878854411	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878854412	G>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878854413	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878854414	C>A,G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs878854415	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886044338	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886052676	C>T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1001523088	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519601	G>CCAGGCCCGTGCAGCTC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057519603	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057519604	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057519606	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1057519607	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060499798	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1064795282	G>A	Pathogenic	Coding sequence variant, splice donor variant, missense variant
rs1064797218	->TCTCA	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1199192203	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs1209665716	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1209867958	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1233145763	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1240409145	G>C,T	Likely-pathogenic	Missense variant, non coding transcript variant, intron variant, 3 prime UTR variant, coding sequence variant
rs1245338270	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1270302810	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1305675114	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1322423998	T>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1330406146	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant, stop gained
rs1332576936	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1415858976	TT>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555539322	CG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555539827	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555543296	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555543432	G>A,T	Uncertain-significance, pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1555543836	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555544187	->AC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555545225	->G	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555547112	T>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1555547524	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567620939	->GCCATCT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567623176	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567638693	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567641234	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567648703	T>G	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1567649945	G>A	Pathogenic	Downstream transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1567650971	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567652792	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567658710	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567658906	G>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567664131	GACT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1597752877	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597753664	->GGCC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597754305	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597768378	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597780918	A>T	Likely-pathogenic	Splice acceptor variant
rs1597784648	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597787868	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597803558	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1169209	hsa-miR-3119	CLIP-seq
MIRT1169210	hsa-miR-4446-5p	CLIP-seq
MIRT1169209	hsa-miR-3119	CLIP-seq
MIRT2048710	hsa-miR-3128	CLIP-seq
MIRT2048711	hsa-miR-3174	CLIP-seq
MIRT2048712	hsa-miR-3182	CLIP-seq
MIRT2048713	hsa-miR-4287	CLIP-seq
MIRT1169210	hsa-miR-4446-5p	CLIP-seq
MIRT2048714	hsa-miR-4469	CLIP-seq
MIRT2048715	hsa-miR-4685-3p	CLIP-seq
MIRT2048716	hsa-miR-4713-5p	CLIP-seq
MIRT2048717	hsa-miR-4720-5p	CLIP-seq
MIRT2048718	hsa-miR-4722-3p	CLIP-seq
MIRT2048719	hsa-miR-4799-3p	CLIP-seq
MIRT2048720	hsa-miR-627	CLIP-seq
MIRT2048721	hsa-miR-924	CLIP-seq
MIRT2277622	hsa-miR-4653-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	10552926
GO:0007626	Process	Locomotory behavior	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IBA
GO:0016459	Component	Myosin complex	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032421	Component	Stereocilium bundle	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098858	Component	Actin-based cell projection	IBA

Other IDs

• MIM: 602666
• HGNC: 7594
• e!Ensembl: ENSG00000091536

Protein

• UniProt ID: Q9UKN7
• Protein name: Unconventional myosin-XV (Unconventional myosin-15)
• Protein function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments
• PDB: 6KZ1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00063	Myosin_head	1224 → 1887	Myosin head (motor domain)	Domain
  PF00612	IQ	1926 → 1946	IQ calmodulin-binding motif	Motif
  PF00784	MyTH4	2108 → 2216	MyTH4 domain	Family
  PF07653	SH3_2	2871 → 2951	Variant SH3 domain	Domain
  PF00784	MyTH4	3093 → 3203	MyTH4 domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in pituitary. Also expressed at lower levels in adult brain, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in brain. In the pituitary, highly expressed in anterior gland cells. {ECO:0000269
• Sequence:

  MAKEEDEEKKAKKGKKGKKAPEPEKPKRSLKGTSRLFMGFRDRTPKISKKGQFRSASAFF
  WGLHTGPQKTKRKRKARTVLKSTSKLMTQMRMGKKKRAMKGKKPSFMVIRFPGRRGYGRL
  RPRARSLSKASTAINWLTKKFLLKKAEESGSEQATVDAWLQRSSSRMGSRKLPFPSGAEI
  LRPGGRLRRFPRSRSIYASGEPLGFLPFEDEAPFHHSGSRKSLYGLEGFQDLGEYYDYHR
  DGDDYYDRQSLHRYEEQEPYLAGLGPYSPAWPPYGDHYYGYPPEDPYDYYHPDYYGGPFD
  PGYTYGYGYDDYEPPYAPPSGYSSPYSYHDGYEGEAHPYGYYLDPYAPYDAPYPPYDLPY
  HTPYDVPYFDPYGVHYTVPYAEGVYGGGDEAIYPPEVPYFYPEESASAFVYPWVPPPIPS
  PHNPYAHAMDDIAELEEPEDAGVERQGTSFRLPSAAFFEQQGMDKPARSKLSLIRKFRLF
  PRPQVKLFGKEKLEVPLPPSLDIPLPLGDADEEEDEEELPPVSAVPYGHPFWGFLTPRQR
  NLQRALSAFGAHRGLGFGPEFGRPVPRPATSLARFLKKTLSEKKPIARLRGSQKARAGGP
  AVREAAYKRFGYKLAGMDPEKPGTPIVLRRAQPRARSSNDARRPPAPQPAPRTLSHWSAL
  LSPPVPPRPPSSGPPPAPPLSPALSGLPRPASPYGSLRRHPPPWAAPAHVPPAPQASWWA
  FVEPPAVSPEVPPDLLAFPGPRPSFRGSRRRGAAFGFPGASPRASRRRAWSPLASPQPSL
  RSSPGLGYCSPLAPPSPQLSLRTGPFQPPFLPPARRPRSLQESPAPRRAAGRLGPPGSPL
  PGSPRPPSPPLGLCHSPRRSSLNLPSRLPHTWRRLSEPPTRAVKPQVRLPFHRPPRAGAW
  RAPLEHRESPREPEDSETPWTVPPLAPSWDVDMPPTQRPPSPWPGGAGSRRGFSRPPPVP
  ENPFLQLLGPVPSPTLQPEDPAADMTRVFLGRHHEPGPGQLTKSAGPTPEKPEEEATLGD
  PQLPAETKPPTPAPPKDVTPPKDITPPKDVLPEQKTLRPSLSYPLAACDQTRATWPPWHR
  WGTLPQAAAPLAPIRAPEPLPKGGERRQAAPGRFAVVMPRVQKLSSFQRVGPATLKPQVQ
  PIQDPKPRACSLRWSCLWLRADAYGPWPRVHTHPQSCHLGPGAACLSLRGSWEEVGPPSW
  RNKMHSIRNLPSMRFREQHGEDGVEDMTQLEDLQETTVLSNLKIRFERNLIYTYIGSILV
  SVNPYQMFGIYGPEQVQQYNGRALGENPPHLFAVANLAFAKMLDAKQNQCIIISGESGSG
  KTEATKLILRYLAAMNQKREVMQQIKILEATPLLESFGNAKTVRNDNSSRFGKFVEIFLE
  GGVISGAITSQYLLEKSRIVFQAKNERNYHIFYELLAGLPAQLRQAFSLQEAETYYYLNQ
  GGNCEIAGKSDADDFRRLLAAMEVLGFSSEDQDSIFRILASILHLGNVYFEKYETDAQEV
  ASVVSAREIQAVAELLQISPEGLQKAITFKVTETMREKIFTPLTVESAVDARDAIAKVLY
  ALLFSWLITRVNALVSPRQDTLSIAILDIYGFEDLSFNSFEQLCINYANENLQYLFNKIV
  FQEEQEEYIREQIDWQEITFADNQPCINLISLKPYGILRILDDQCCFPQATDHTFLQKCH
  YHHGANPLYSKPKMPLPEFTIKHYAGKVTYQVHKFLDKNHDQVRQDVLDLFVRSRTRVVA
  HLFSSHAPQAAPQRLGKSSSVTRLYKAHTVAAKFQQSLLDLVEKMERCNPLFMRCLKPNH
  KKEPGLFEPDVVMAQLRYSGVLETVRIRKEGFPVRLPFQGFIDRYCCLVALKHDLPANGD
  MCVSVLSRLCKVMPNMYRVGVSKLFLKEHLYQLLESMREHVLNLAALTLQRCLRGFFIKR
  RFRSLRHKIILLQSRARGYLARQRYQQMRRSLVKFRSLVHAYVSRRRYLKLRAEWRCQVE
  GALLWEQEELSKREVVAVGHLEVPAELAGLLQAVAGLGLAQVPQVAPVRTPRLQAEPRVT
  LPLDINNYPMAKFVQCHFKEPAFGMLTVPLRTPLTQLPAEHHAEAVSIFKLILRFMGDPH
  LHGARENIFGNYIVQKGLAVPELRDEILAQLANQVWHNHNAHNAERGWLLLAACLSGFAP
  SPCFNKYLLKFVSDYGRNGFQAVCQHRLMQAMGRAQQQGSGAARTLPPTQLEWTATYEKA
  SMALDVGCFNGDQFSCPVHSWSTGEEVAGDILRHRGLADGWRGWTVAMKNGVQWAELAGH
  DYVLDLVSDLELLRDFPRQKSYFIVGTEGPAASRGGPKVVFGNSWDSDEDMSTRPQPQEH
  MPKVLDSDGYSSHNQDGTNGETEAQRGTATHQESDSLGEPAVPHKGLDCYLDSLFDPVLS
  YGDADLEKPTAIAYRMKGGGQPGGGSSSGTEDTPRRPPEPKPIPGLDASTLALQQAFIHK
  QAVLLAREMTLQATALQQQPLSAALRSLPAEKPPAPEAQPTSVGTGPPAKPVLLRATPKP
  LAPAPLAKAPRLPIKPVAAPVLAQDQASPETTSPSPELVRYSTLNSEHFPQPTQQIKNIV
  RQYQQPFRGGRPEALRKDGGKVFMKRPDPHEEALMILKGQMTHLAAAPGTQVSREAVALV
  KPVTSAPRPSMAPTSALPSRSLEPPEELTQTRLHRLINPNFYGYQDAPWKIFLRKEVFYP
  KDSYSHPVQLDLLFRQILHDTLSEACLRISEDERLRMKALFAQNQLDTQKPLVTESVKRA
  VVSTARDTWEVYFSRIFPATGSVGTGVQLLAVSHVGIKLLRMVKGGQEAGGQLRVLRAYS
  FADILFVTMPSQNMLEFNLASEKVILFSARAHQVKTLVDDFILELKKDSDYVVAVRNFLP
  EDPALLAFHKGDIIHLQPLEPPRVGYSAGCVVRRKVVYLEELRRRGPDFGWRFGTIHGRV
  GRFPSELVQPAAAPDFLQLPTEPGRGRAAAVAAAVASAAAAQEVGRRREGPPVRARSADH
  GEDALALPPYTMLEFAQKYFRDPQRRPQDGLRLKSKEPRESRTLEDMLCFTKTPLQESLI
  ELSDSSLSKMATDMFLAVMRFMGDAPLKGQSDLDVLCNLLKLCGDHEVMRDECYCQVVKQ
  ITDNTSSKQDSCQRGWRLLYIVTAYHSCSEVLHPHLTRFLQDVSRTPGLPFQGIAKACEQ
  NLQKTLRFGGRLELPSSIELRAMLAGRSSKRQLFLLPGGLERHLKIKTCTVALDVVEEIC
  AEMALTRPEAFNEYVIFVVTNRGQHVCPLSRRAYILDVASEMEQVDGGYMLWFRRVLWDQ
  PLKFENELYVTMHYNQVLPDYLKGLFSSVPASRPSEQLLQQVSKLASLQHRAKDHFYLPS
  VREVQEYIPAQLYRTTAGSTWLNLVSQHRQQTQALSPHQARAQFLGLLSALPMFGSSFFF
  IQSCSNIAVPAPCILAINHNGLNFLSTETHELMVKFPLKEIQSTRTQRPTANSSYPYVEI
  ALGDVAAQRTLQLQLEQGLELCRVVAVHVENLLSAHEKRLTLPPSEITLL

• Sequence length: 3530

Pathways

KEGG:

Motor 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 recessive nonsyndromic hearing loss 3	Likely pathogenic; Pathogenic	rs1475492059, rs2142283941, rs1217492313, rs753790346, rs776201118, rs374183624, rs1267868260, rs2142386490, rs2142436001, rs2142236554, rs1245338270, rs2142253567, rs2142274411, rs2142282007, rs2142307505, rs2142315607, rs2142315894, rs2142330998, rs2142347739, rs2142360575, rs2142363296, rs1338603862, rs2142413310, rs2142436425, rs2142451116, rs530975087, rs748108031, rs2142404134, rs2142343642, rs772568482, rs548514957, rs2142428987, rs2142413318, rs2142244823, rs2142236482, rs2142258855, rs769230097, rs1317243760, rs2142429182, rs2142274433, rs2142280018, rs772995303, rs758896141, rs2142330705, rs2142335605, rs2142341338, rs749465098, rs1174503300, rs2142240125, rs2142355107, rs2142360420, rs2046512154, rs2142430892, rs2046521710, rs1482709090, rs2142369409, rs2142370409, rs2142370684, rs760148486, rs2142377997, rs2142379446, rs2142381103, rs2142381306, rs773476384, rs2142381989, rs2142382400, rs2142384617, rs2142386632, rs2142387013, rs2142388348, rs751628774, rs2142388547, rs774312110, rs2142391112, rs2142242418, rs2142243946, rs774255124, rs1330631412, rs2142402323, rs769937488, rs2142326062, rs2142363190, rs1445431722, rs2142244867, rs746051220, rs2545194243, rs2545193797, rs2545301360, rs2545338581, rs377015931, rs727503309, rs201978571, rs727503315, rs2545305544, rs1231691192, rs2545305166, rs794729637, rs760490445, rs2545265594, rs121908965, rs121908966, rs121908967, rs121908968, rs121908969, rs121908971, rs769884586, rs121908972, rs1270302810, rs1567664131, rs772536599, rs201067821, rs765468034, rs184435771, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs2545283716, rs756013406, rs2545268569, rs368883685, rs2545305297, rs2046773972, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs368931546, rs374742590, rs727503310, rs763975867, rs750651809, rs746969842, rs2545311747, rs764251996, rs1203392889, rs2545247575, rs377572905, rs752816535, rs2545276422, rs2545173577, rs2545244528, rs1171337671, rs1213371923, rs1319049564, rs779440022, rs886052676, rs2545178918, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1060499798, rs373520843, rs571594379, rs1555543836, rs549138385, rs780170125, rs760461823, rs1555546699, rs781546107, rs771720649, rs769260536, rs1221876133, rs748868741, rs375459945, rs759523751, rs778404517, rs1555547112, rs750130520, rs768257384, rs200451098, rs397517287, rs373462792, rs372466080, rs1330406146, rs1567658710, rs1209665716, rs1567641234, rs1567649945, rs1233145763, rs1567620939, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs751142446, rs773461233, rs1567658906, rs1567624190, rs749136456, rs1322423998, rs1597787868, rs773729617, rs1597747826, rs1597752877, rs766187994, rs757070287, rs764867438, rs1288328459, rs2046752611, rs760069953, rs1390498839, rs763075073, rs368053088, rs751973078, rs2046392476, rs2045862543, rs2046256329, rs2046704290, rs2047052213	RCV005019262 RCV001374671 RCV003333765 RCV002224976 RCV001533147 RCV005014580 RCV001822900 RCV001822950 RCV001822902 RCV001823256 RCV001823292 RCV001823264 RCV001823232 RCV001823246 RCV001823223 RCV001823233 RCV001823228 RCV001823286 RCV001823267 RCV001823215 RCV001823237 RCV001823268 RCV001823257 RCV001823229 RCV001823226 RCV002224977 RCV004796643 RCV002051749 RCV002051752 RCV005014621 RCV006249762 RCV002224978 RCV002224979 RCV002224980 RCV002224982 RCV002224984 RCV002224985 RCV002224986 RCV002224987 RCV002224988 RCV002224989 RCV002224993 RCV002224995 RCV002225001 RCV002225003 RCV002225006 RCV002225007 RCV002225008 RCV002225009 RCV002225012 RCV002225013 RCV002225014 RCV002225016 RCV002225018 RCV002225020 RCV002225022 RCV002225023 RCV002225024 RCV002225025 RCV002225026 RCV002225027 RCV002225028 RCV002225029 RCV002225030 RCV002225031 RCV002225032 RCV002225033 RCV002225035 RCV002225036 RCV002225037 RCV002225038 RCV002225039 RCV002225040 RCV002225041 RCV002225042 RCV002225043 RCV002225044 RCV002225045 RCV001780438 RCV002225048 RCV002225049 RCV001784696 RCV001808219 RCV002251010 RCV002251199 RCV002505896 RCV002508345 RCV002281637 RCV002283897 RCV002287843 RCV000477929 RCV001254925 RCV001799510 RCV004782257 RCV002444391 RCV005019631 RCV002510689 RCV000185530 RCV005603786 RCV005406532 RCV000007365 RCV000007366 RCV000007367 RCV000007368 RCV000007369 RCV000007370 RCV000007372 RCV000007373 RCV000007374 RCV000007375 RCV000007376 RCV000007377 RCV000851286 RCV001265207 RCV000762983 RCV000778491 RCV003137851 RCV000225063 RCV000225053 RCV000225093 RCV000225089 RCV003128283 RCV003153018 RCV003155574 RCV003155575 RCV003155576 RCV003155577 RCV000231728 RCV000226627 RCV000233468 RCV000227379 RCV000233062 RCV000227956 RCV000230303 RCV003227459 RCV002224964 RCV003229554 RCV003232059 RCV000778490 RCV003314287 RCV003317922 RCV003388787 RCV003484514 RCV003484515 RCV005402047 RCV005014779 RCV005014792 RCV005402045 RCV005014833 RCV005014837 RCV005637015 RCV004587546 RCV005014995 RCV005014983 RCV003988326 RCV000373305 RCV004595730 RCV000417137 RCV000417169 RCV000417183 RCV000417129 RCV000417166 RCV000417125 RCV000454215 RCV000454294 RCV000477946 RCV000477926 RCV001782968 RCV000504331 RCV002224967 RCV005019009 RCV000593373 RCV002509458 RCV000779205 RCV000735770 RCV001824841 RCV005240311 RCV000762982 RCV006249654 RCV000624126 RCV001824847 RCV000625769 RCV001784186 RCV001265208 RCV005016324 RCV003988825 RCV000677177 RCV000677663 RCV000678988 RCV000681536 RCV000681531 RCV000735769 RCV002051890 RCV000761491 RCV000770829 RCV000770831 RCV000770837 RCV000770838 RCV000770832 RCV000770833 RCV000770839 RCV000770830 RCV000770836 RCV000770835 RCV000770834 RCV000779206 RCV000779207 RCV001001764 RCV000851574 RCV000855723 RCV000984934 RCV000989767 RCV000989770 RCV001824912 RCV001089566 RCV001089567 RCV001089568 RCV001089558 RCV001089559 RCV001199126 RCV002491675 RCV001249185 RCV001250120 RCV001265209 RCV001265210 RCV001265211 RCV001265212	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 9	Likely pathogenic	rs778354646	RCV005055202	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney complex, type 1	Pathogenic	rs766187994	RCV006449379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood onset hearing loss	Likely pathogenic; Pathogenic	rs1169954783	RCV001328010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital sensorineural hearing impairment	Pathogenic; Likely pathogenic	rs780170125, rs768257384	RCV000626936 RCV000626937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs993809972, rs767354620, rs2142299813, rs374183624, rs2142395492	RCV001814406 RCV001814531 RCV001814366 RCV001814405 RCV001814490	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs1217492313, rs375627187, rs199621031, rs2142381989, rs184435771, rs779077039, rs1060499798, rs769260536, rs750130520, rs1322423998, rs763075073	RCV001375289 RCV001375285 RCV001375260 RCV005626471 RCV001375259 RCV005625585 RCV001375262 RCV001375258 RCV001849419 RCV005626232 RCV001375261	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs753790346, rs2545309831, rs779077039, rs781546107, rs1209665716, rs1567641234, rs767378045	RCV004719041 RCV004719050 RCV001291109 RCV001291108 RCV001291110 RCV001291111 RCV001291106	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs772568482, rs780170125	RCV005626465 RCV005625646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs1174503300, rs727503316, rs201978571, rs184435771, rs1221876133, rs1390498839	RCV005647391 RCV006249365 RCV005646869 RCV005864465 RCV006250176 RCV006252479	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYO15A-related disorder	Likely pathogenic; Pathogenic	rs762110822, rs374183624, rs377015931, rs1231691192, rs1270302810, rs201067821, rs2545317873, rs2545174628, rs760090242, rs757066608, rs780170125, rs1415858976, rs781546107, rs372466080, rs1567649945, rs747371923, rs766187994	RCV004746326 RCV004746419 RCV004745219 RCV003404053 RCV004745148 RCV004745287 RCV003406217 RCV003408510 RCV003984439 RCV003904076 RCV004745429 RCV004745438 RCV003403392 RCV003398605 RCV003955486 RCV004745584 RCV004746190	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs727504995, rs121908965, rs1199192203, rs769260536, rs759523751, rs1001523088, rs1567620939, rs749136456, rs1322423998, rs1345580310	RCV000156414 RCV002228014 RCV002231209 RCV002232560 RCV002232717 RCV004017700 RCV002233762 RCV002233817 RCV002235474 RCV002240823	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Papillary renal cell carcinoma type 1	Pathogenic	rs2142376390, rs571594379	RCV005924359 RCV005899618	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs753790346, rs727504995, rs727503312, rs727503316, rs377015931, rs546575046, rs727503309, rs201978571, rs727503315, rs772536599, rs765468034, rs184435771, rs876657708, rs763975867, rs900747631, rs2545188611, rs772104371, rs2545176178, rs2545189511, rs2545262156, rs2545272467, rs2545325366, rs769792093, rs886052676, rs780170125, rs1415858976, rs769260536, rs1555539827, rs748868741, rs759523751, rs754865266, rs778404517, rs397517285, rs397517286, rs200451098, rs397517287, rs373462792, rs372466080, rs1567620939, rs749136456, rs1597768378, rs1322423998, rs760069953, rs1162296750, rs1345580310	RCV001449688 RCV000156414 RCV000151402 RCV000151411 RCV000155197 RCV000156009 RCV000151394 RCV000151398 RCV000151407 RCV000223213 RCV000214976 RCV000218811 RCV000218653 RCV000600824 RCV004018007 RCV004018171 RCV004018172 RCV004018186 RCV004018196 RCV004018197 RCV004018222 RCV004018223 RCV004018287 RCV000604391 RCV000605806 RCV000612551 RCV001195292 RCV000611730 RCV000607201 RCV000603268 RCV000605984 RCV000615114 RCV000038980 RCV000038981 RCV004017327 RCV000038989 RCV000038995 RCV000039001 RCV004017728 RCV000825533 RCV000825534 RCV000825569 RCV004017785 RCV001195278 RCV001195428	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alport syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, with smith-magenis syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	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
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	31791989		★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36150242	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10330345		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	10320095		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Deafness	Pubtator	20505086, 22245518, 23226338, 23767834, 23967202, 26011067, 26915297, 27344577, 27573290, 27870113, 29482514, 29692870, 30139988, 30682115, 30953472, 31581539, 31791989, 31992338, 32617096, 32802042, 33095980, 33187236, 33398081, 33626355, 34093702, 34335733, 35062939, 35106950, 35248088, 35346193, 36217262, 36401330, 36597107, 7616538	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	10330345, 24926664, 24949729	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 3	Deafness	Pubtator	10330345, 19274735, 29482514, 30953472, 31791989, 36743950	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	10330345, 30953472		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 3	Deafness	UNIPROT_DG	11735029, 24926664, 9603736		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 3	Deafness	CLINVAR_DG	17546645, 20642360, 21917145, 22736430, 23208854, 23767834, 23967202, 24123792, 24875298, 25792667, 27734841, 27870113, 30828794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 3	Deafness	BEFREE	26810297, 30953472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 3	Deafness	GENOMICS_ENGLAND_DG	9603736		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 3	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy Nonaka type	Distal myopathy	Pubtator	38167320	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19274735, 19888295, 22245518, 23865914, 24105371, 26242193, 27573290, 27870113, 28000701, 29196752, 29482514, 29692870, 30068307, 30139988, 30953472, 31250571, 31370293, 31835641, 31898538, 32134349, 32617096, 32682410, 32802042, 32842620, 33078831, 33187236, 33208113, 33398081, 33997018, 34093702, 34194829, 34753855, 35062939, 35106950, 35248088, 35346193, 35982127, 36401330, 36743950, 37189200, 37438890, 39271758	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	19274735, 26242193, 29986705, 35580552, 36401330	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia-Ischemia, Brain	Ischemic Encephalopathy	BEFREE	31580838		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12114748		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	18804553, 25792667, 26242193, 27375115, 7616538, 7704031		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12114748		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	10049592, 17546645, 19309289, 20642360, 23865914, 25792667, 26308726, 9603736		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	10915760, 15590698, 15654330, 19309289, 23208854, 26226137, 27375115, 9603735		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	11583965	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29547942	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	19274735, 20642360, 26242193, 26810297		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	10049592, 11735029		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	25404053		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	25404053, 35580552	Associate	★☆☆☆☆ Found in Text Mining only