PCDH15 (protocadherin related 15)

Gene

• Entrez ID: 65217
• Gene name: Protocadherin related 15
• Gene symbol: PCDH15
• Synonyms (NCBI Gene): CDHR15, DFNB23, USH1F
• Chromosome: 10
• Chromosome location: 10q21.1
• Summary: This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gen

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12246234	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs45483395	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs111033260	G>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs111033445	G>A,C,T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs113363047	TTG>-	Pathogenic, benign	Intron variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs137853001	G>A	Pathogenic, pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs137853002	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs137853003	G>A,C,T	Pathogenic, likely-pathogenic	Synonymous variant, missense variant, non coding transcript variant, stop gained, coding sequence variant
rs137853004	G>C	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs138010738	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs138983888	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs139668636	G>A	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs140736502	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143842048	G>A,C	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs145017164	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs146199636	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs146796009	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs150784450	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs181306086	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs199469706	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs201161336	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201328768	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs201855435	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant, intron variant
rs202033121	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs267606932	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368308772	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs370261904	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs375855445	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs397515566	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs397517451	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs397517452	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397517462	AGGAGG>-,AGG	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs483352837	CAA>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs545191822	->GTTT	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs559130985	CGGCGGCGG>-,CGG,CGGCGG,CGGCGGCGGCGG,CGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGG	Likely-pathogenic, uncertain-significance, benign	Non coding transcript variant, inframe insertion, inframe deletion, genic downstream transcript variant, coding sequence variant
rs561144747	TTC>-	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, inframe deletion
rs727504070	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs727504301	G>A,C	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs748086016	TAGAAGGAGGAGAGGGA>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs748706627	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs753690225	GAAGAGGAAG>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs753832779	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs754391973	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, missense variant
rs754543131	A>G	Uncertain-significance, likely-pathogenic	Splice donor variant
rs756692340	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs757027638	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs758685587	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs758921360	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs758947077	C>G,T	Likely-pathogenic	Splice donor variant
rs759187261	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs763797356	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant, intron variant
rs766484375	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs767526540	AGAAGGAGGAGAAATAGGAGGAGGAGG>-	Likely-pathogenic	Inframe deletion, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs769348776	GGGCACGGTCCTGTT>-	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, non coding transcript variant
rs770832663	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs773404494	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs774056663	->ATAGTATT	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs774857947	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs781148814	->T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs781339303	TG>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs876657418	C>T	Pathogenic	Splice acceptor variant
rs903145299	A>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs907693214	C>A,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs989521806	T>A	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1040514625	T>C	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant
rs1056396947	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant, 3 prime UTR variant
rs1057516268	A>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516342	G>A,C	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1057516351	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516470	C>A	Likely-pathogenic	Splice donor variant
rs1057516472	A>T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1057516474	T>G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1057516560	TTGAAAGAAAAGAA>-	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1057516613	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516656	A>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516780	->ATCTC	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516821	->CTAC	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516892	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516974	T>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516992	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517048	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517150	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517182	TGAAAGTGGGTGAGTTGTCATTCCTGTCT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517251	G>A,C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs1057517261	GATT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1057517264	AC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517284	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057517325	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057517419	->A	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1057517443	A>C	Likely-pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1057520678	A>G,T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1057520709	C>G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1248401224	->A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1264383341	->T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1304228309	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1328440878	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1384677442	G>A,C,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1402893508	C>A,G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554806149	A>G	Likely-pathogenic	Intron variant, splice donor variant
rs1554816541	AT>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554822703	A>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554822891	GC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554822897	->CTTT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554823229	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs1554823231	C>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs1554824185	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554833227	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554833242	->CTATCTT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833249	ATCT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833314	TTGA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833699	C>-	Likely-pathogenic	Splice donor variant
rs1554836566	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554852472	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554872194	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554873550	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554882546	A>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554882652	->ATCACAGG	Pathogenic	Non coding transcript variant, inframe indel, stop gained, coding sequence variant, genic downstream transcript variant
rs1554883705	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554903842	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1554903979	A>C	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1554934073	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554940316	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554956023	A>G	Likely-pathogenic	Splice donor variant
rs1554956088	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555135419	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564949059	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1589036783	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1589072933	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1589156388	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1589821731	C>T	Likely-pathogenic	Coding sequence variant, splice donor variant, missense variant
rs1589950125	TA>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1590691343	A>C	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1591019480	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1591095476	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT734052	hsa-miR-22-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	31891366
MIRT1216766	hsa-miR-3174	CLIP-seq
MIRT1216767	hsa-miR-4424	CLIP-seq
MIRT1216768	hsa-miR-4765	CLIP-seq
MIRT1216769	hsa-miR-125a-5p	CLIP-seq
MIRT1216770	hsa-miR-125b	CLIP-seq
MIRT1216771	hsa-miR-1279	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216773	hsa-miR-146b-3p	CLIP-seq
MIRT1216774	hsa-miR-1913	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216776	hsa-miR-3173-5p	CLIP-seq
MIRT1216777	hsa-miR-324-3p	CLIP-seq
MIRT1216778	hsa-miR-4251	CLIP-seq
MIRT1216779	hsa-miR-4319	CLIP-seq
MIRT1216780	hsa-miR-4324	CLIP-seq
MIRT1216781	hsa-miR-4477a	CLIP-seq
MIRT1216782	hsa-miR-4762-5p	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216785	hsa-miR-548c-3p	CLIP-seq
MIRT1216786	hsa-miR-578	CLIP-seq
MIRT1216787	hsa-miR-580	CLIP-seq
MIRT1216788	hsa-miR-874	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT1216790	hsa-miR-944	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT2439220	hsa-miR-659	CLIP-seq
MIRT2455989	hsa-miR-3163	CLIP-seq
MIRT2455990	hsa-miR-3662	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IDA	14570705
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	16369489
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	15537665
GO:0007605	Process	Sensory perception of sound	IMP	11398101
GO:0016020	Component	Membrane	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS	14570705
GO:0045202	Component	Synapse	IDA	11487575
GO:0045494	Process	Photoreceptor cell maintenance	IMP	11398101
GO:0048839	Process	Inner ear development	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	11398101
GO:0050957	Process	Equilibrioception	IEA
GO:0050957	Process	Equilibrioception	IMP	16679490

Other IDs

• MIM: 605514
• HGNC: 14674
• e!Ensembl: ENSG00000150275

Protein

• UniProt ID: Q96QU1
• Protein name: Protocadherin-15
• Protein function: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.
• PDB: 4XHZ, 5T4M, 5T4N, 5ULY, 6E8F, 6EB5, 6MFO, 6N2E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18432	ECD	31 → 140	Extracellular Cadherin domain	Domain
  PF00028	Cadherin	152 → 256	Cadherin domain	Domain
  PF00028	Cadherin	514 → 606	Cadherin domain	Domain
  PF00028	Cadherin	621 → 708	Cadherin domain	Domain
  PF00028	Cadherin	723 → 810	Cadherin domain	Domain
  PF00028	Cadherin	824 → 917	Cadherin domain	Domain
  PF00028	Cadherin	931 → 1027	Cadherin domain	Domain
  PF00028	Cadherin	1044 → 1135	Cadherin domain	Domain
  PF00028	Cadherin	1149 → 1243	Cadherin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of feta
• Sequence:

  MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNM
  LIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQC
  INKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDID
  DGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQN
  LNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIV
  TPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQK
  FDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNL
  TSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFS
  ITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGS
  NGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICT
  VYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRV
  FNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPY
  LPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNRE
  VRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQ
  IEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFD
  IYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPA
  SRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSA
  TVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTF
  GINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNH
  PPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETY
  TGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLV
  EKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRA
  IDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLAL
  AFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPP
  PPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDG
  SLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKS
  KSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRG
  SSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRT
  VELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNI
  SPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSV
  STSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKS
  SMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCP
  SEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL

• Sequence length: 1955

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 23	Pathogenic; Likely pathogenic	rs2079481708, rs763882874, rs1436725375, rs1554820966, rs749884609, rs779165268, rs748706627, rs2136049616, rs2133801342, rs1193650682, rs2134904455, rs2133652254, rs2135322143, rs35296328, rs2134714388, rs2134714165, rs1299990309, rs2132508266, rs2132512042, rs2134277047, rs2133817680, rs2132508767, rs2079479378, rs765906921, rs2092876200, rs1565887701, rs2134302083, rs2132576827, rs2134175729, rs2134901685, rs2135421905, rs727504301, rs2547872482, rs2547717373, rs1564497773, rs137853001, rs199469706, rs111033260, rs137853002, rs137853003, rs2539511295, rs2493336379, rs754391973, rs773404494, rs1476947005, rs761865629, rs1554815732, rs2539682486, rs2538939518, rs2539026741, rs771169423, rs2549545673, rs2539767594, rs1057517251, rs772911878, rs1591348421, rs2495078256, rs2494600372, rs2077002696, rs2049552830, rs2539028575, rs1405076980, rs2493175361, rs2540012395, rs267606932, rs2540011642, rs1554873550, rs2541283849, rs763797356, rs2541280518, rs2548744790, rs2547872368, rs1480320128, rs2494644051, rs2492841988, rs989521806, rs1057516613, rs1057516472, rs770832663, rs758685587, rs1057516342, rs201328768, rs757027638, rs138983888, rs1057517261, rs1057517443, rs1057517264, rs1056396947, rs1554882652, rs769348776, rs1554822897, rs1248401224, rs1168400018, rs903145299, rs767621707, rs1554940316, rs1554822703, rs1328440878, rs1233449433, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs1564949059, rs397517452, rs202033121, rs1589156388, rs1591019480, rs759187261, rs1589072933, rs1589950125, rs1384677442, rs1264383341, rs2094144044, rs1943288780, rs746865307, rs2091805733, rs2085799827, rs982893820, rs747516133, rs2051720336, rs1943286459	RCV001328030 RCV005040270 RCV005040264 RCV005040251 RCV005040243 RCV003474000 RCV003473966 RCV003473929 RCV003473947 RCV003473937 RCV003473978 RCV001822910 RCV001823254 RCV003474009 RCV001580755 RCV001809325 RCV003475107 RCV003475299 RCV005042590 RCV005042598 RCV003475302 RCV002479590 RCV005050477 RCV005050478 RCV004571629 RCV003475222 RCV003475288 RCV003475153 RCV004571496 RCV005042491 RCV003475252 RCV002052080 RCV003475311 RCV002498738 RCV005042800 RCV002468759 RCV005042358 RCV003475489 RCV000770851 RCV003472980 RCV000477806 RCV000005221 RCV000005222 RCV005044975 RCV003475449 RCV003474975 RCV003474992 RCV003474996 RCV005047401 RCV003475524 RCV003155579 RCV003155593 RCV003476666 RCV003476671 RCV003476673 RCV003476678 RCV003476680 RCV003476682 RCV003476683 RCV003476695 RCV003476696 RCV003476705 RCV004574132 RCV004574181 RCV004574276 RCV005047751 RCV004573156 RCV004796836 RCV000005225 RCV004574464 RCV004574465 RCV004574466 RCV004574467 RCV004574468 RCV004574469 RCV004574470 RCV004574471 RCV004574472 RCV004574473 RCV005049536 RCV002505994 RCV003475946 RCV003475937 RCV004567880 RCV000770852 RCV005044607 RCV003475948 RCV005049538 RCV003475970 RCV005044617 RCV003475969 RCV003475971 RCV003476015 RCV000454314 RCV003471963 RCV005044893 RCV004568569 RCV004568520 RCV003472126 RCV005392267 RCV005049649 RCV005046899 RCV005049634 RCV003472171 RCV003472082 RCV005046901 RCV003472159 RCV003472172 RCV000770853 RCV001809740 RCV003472143 RCV000681533 RCV003473288 RCV000515240 RCV003472387 RCV004569625 RCV005047063 RCV003473520 RCV003473534 RCV003473548 RCV003473554 RCV002479312 RCV003473712 RCV003473713 RCV003473760 RCV003473741 RCV003473740 RCV003473762 RCV002491787 RCV002290658 RCV001283795	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood onset hearing loss	Likely pathogenic; Pathogenic	rs1057517251	RCV001328031	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic	rs2132598205	RCV001814510	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1564949059	RCV001291231	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs1554883705	RCV005912489	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PCDH15-related disorder	Pathogenic; Likely pathogenic	rs111033260, rs773404494, rs2549545616, rs1057517251, rs1057516892, rs759187261	RCV004734497 RCV004734863 RCV004527864 RCV004530499 RCV004725198 RCV004735805	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive cone dystrophy (without rod involvement)	Likely pathogenic	rs781339303	RCV000787857	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727504301, rs137853001, rs111033260, rs137853003, rs773404494, rs770832663, rs781148814, rs397517451, rs397517452, rs202033121	RCV000824734 RCV000824737 RCV000824735 RCV000211736 RCV000223562 RCV000826148 RCV000824732 RCV000824736 RCV000824733 RCV000824731	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs758921360, rs1057517251, rs763797356, rs143842048, rs1402893508	RCV004816632 RCV001073718 RCV004816657 RCV001073252 RCV001074213	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome	Likely pathogenic; Pathogenic	rs2492343512, rs2547624796, rs2492334575, rs1022105558, rs202033121, rs1591095476	RCV003389530 RCV003389536 RCV003389537 RCV003389546 RCV003389450 RCV000826125	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1	Pathogenic; Likely pathogenic	rs111033260, rs137853003, rs397517451, rs1384677442	RCV000218809 RCV003333743 RCV000219366 RCV001004340	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1D	Pathogenic; Likely pathogenic	rs2079481708, rs763882874, rs1436725375, rs1554820966, rs749884609, rs748706627, rs2136049616, rs2135322143, rs2134714165, rs2132508266, rs2132512042, rs2133817680, rs2132508767, rs2079479378, rs765906921, rs2134175729, rs2133801703, rs727504301, rs2492659568, rs1472644881, rs2077007633, rs2492843419, rs2539766693, rs2492843561, rs2539477388, rs2494643428, rs2493949917, rs2495074114, rs2495140482, rs2493336185, rs2539684506, rs2492658988, rs2539768291, rs2539767058, rs2539476594, rs2539766517, rs2547833358, rs2539201047, rs2539507853, rs2133924160, rs2549545213, rs2547872482, rs2539476089, rs2541279278, rs2494645313, rs2495137682, rs2539510522, rs2494644980, rs2541280442, rs2539768820, rs2538938783, rs2539510842, rs753408470, rs2493950607, rs768989856, rs2493175179, rs2541282849, rs2539929475, rs137853001, rs199469706, rs111033260, rs2539511295, rs754391973, rs773404494, rs1476947005, rs761865629, rs771169423, rs1057517251, rs2495078256, rs1405076980, rs2540012395, rs2075764795, rs267606932, rs2492070590, rs764162842, rs2492348009, rs989521806, rs1057516613, rs770832663, rs1057516342, rs201328768, rs138983888, rs1057517443, rs1057517264, rs769348776, rs903145299, rs767621707, rs1554940316, rs1233449433, rs756692340, rs202033121, rs759187261, rs1384677442, rs1264383341, rs2094144598, rs747516133, rs1943286459	RCV001328030 RCV005040270 RCV005040264 RCV005040251 RCV005040243 RCV001810507 RCV005040254 RCV005040319 RCV005050417 RCV005042590 RCV005042598 RCV002479590 RCV005050477 RCV005050478 RCV005042533 RCV005042491 RCV002250176 RCV001002687 RCV002306497 RCV002306621 RCV002306698 RCV002306702 RCV002306742 RCV002309675 RCV002309696 RCV002309833 RCV002309894 RCV002307868 RCV002307936 RCV002307948 RCV002308051 RCV002308293 RCV002308320 RCV002308321 RCV002309114 RCV002309270 RCV002309325 RCV002309377 RCV002309418 RCV002309449 RCV002309504 RCV002306927 RCV002307187 RCV002307248 RCV002307276 RCV002307292 RCV002307345 RCV002310101 RCV002310166 RCV002310204 RCV002310257 RCV002310299 RCV002310358 RCV002310360 RCV002310434 RCV002310540 RCV002308425 RCV002308428 RCV005042358 RCV005041988 RCV001198734 RCV000477806 RCV005044975 RCV000210315 RCV005044438 RCV005047401 RCV005356346 RCV005051309 RCV005051310 RCV005047598 RCV005047751 RCV004796836 RCV003992138 RCV005042067 RCV004576157 RCV004576158 RCV004576159 RCV005049536 RCV002505994 RCV005044605 RCV005049535 RCV005044607 RCV005049538 RCV005044617 RCV005044616 RCV005044893 RCV005392267 RCV005049649 RCV005046899 RCV005049634 RCV005046901 RCV005046907 RCV000515240 RCV005047063 RCV005047193 RCV005047194 RCV002479312 RCV001198733 RCV002491787 RCV003992488	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1F	Pathogenic; Likely pathogenic	rs2079481708, rs757418440, rs1363688830, rs763882874, rs1436725375, rs1554820966, rs749884609, rs779165268, rs748706627, rs2136049616, rs1193650682, rs2135322143, rs2133646979, rs2133664431, rs2134714165, rs2132508266, rs982893820, rs1200451014, rs2132512042, rs2133817680, rs767847479, rs2132508767, rs2079479378, rs765906921, rs2134175729, rs2135421905, rs727504301, rs2547872482, rs1564497773, rs1307471318, rs137853001, rs199469706, rs111033260, rs137853003, rs137853004, rs2539511295, rs754391973, rs773404494, rs762129852, rs1476947005, rs1564960443, rs761865629, rs771169423, rs1057517251, rs1591348421, rs2495078256, rs1405076980, rs2540012395, rs2492417837, rs267606932, rs2539900762, rs2492076748, rs989521806, rs1057516560, rs1057516613, rs1057516351, rs1057516472, rs1057516821, rs758921360, rs1057516780, rs1057516268, rs770832663, rs1057516656, rs1057516974, rs1057517325, rs1057517284, rs758685587, rs1057516342, rs201328768, rs757027638, rs781148814, rs138983888, rs1057517261, rs1057517443, rs1057516474, rs1057517150, rs1057516892, rs758947077, rs370261904, rs1057517048, rs1057516470, rs1057517182, rs1057517264, rs1057516992, rs1057516770, rs763797356, rs1057520709, rs769348776, rs1554820749, rs1554822897, rs1554823229, rs1554833242, rs1248401224, rs1554836566, rs1402893508, rs1554882546, rs1554956088, rs1554806149, rs1554903842, rs1168400018, rs1555032952, rs903145299, rs1287068204, rs767621707, rs771473483, rs1554934073, rs1554820894, rs1554940316, rs1554822703, rs1554823231, rs1554824185, rs1328440878, rs1554833227, rs1554833314, rs1554872194, rs1554833699, rs1233449433, rs1554822891, rs756692340, rs1554833249, rs1554852472, rs1554873550, rs1554883705, rs1554956023, rs1554816541, rs1554903979, rs143842048, rs1304228309, rs1555135419, rs397517451, rs397517452, rs202033121, rs1589156388, rs759187261, rs1589950125, rs1590691343, rs1384677442, rs1264383341, rs758482449, rs746865307, rs747516133, rs2051720336	RCV001328030 RCV002550241 RCV002550243 RCV005040270 RCV005040264 RCV005040251 RCV005040243 RCV002551578 RCV002551549 RCV005040254 RCV002307742 RCV005040319 RCV001787319 RCV001825103 RCV001844738 RCV005042590 RCV002571248 RCV002548051 RCV005042598 RCV002479590 RCV002568520 RCV005050477 RCV005050478 RCV005042533 RCV005042491 RCV002250982 RCV000154331 RCV005042800 RCV000169489 RCV003062261 RCV000005215 RCV000005216 RCV000005217 RCV000005218 RCV003234893 RCV000005224 RCV005044975 RCV000240654 RCV000781698 RCV001833187 RCV002789950 RCV002789951 RCV002789952 RCV002789953 RCV005051309 RCV005051310 RCV005608969 RCV005047598 RCV005047751 RCV004796836 RCV005609090 RCV002513133 RCV004585123 RCV004585124 RCV000410459 RCV000409410 RCV000410301 RCV000411267 RCV000409923 RCV000410395 RCV000410951 RCV000410014 RCV000411967 RCV000409226 RCV000410850 RCV000409990 RCV000409970 RCV000409420 RCV000410518 RCV000412338 RCV000410835 RCV000411936 RCV000412083 RCV000412275 RCV000409254 RCV000410816 RCV000410583 RCV000411988 RCV000410287 RCV000410989 RCV000411068 RCV000410351 RCV000410045 RCV000411154 RCV000411523 RCV000411639 RCV000411746 RCV000411565 RCV002307495 RCV000671775 RCV002232235 RCV000670820 RCV000674755 RCV000666836 RCV000671510 RCV000669022 RCV000671550 RCV000674150 RCV000668350 RCV000672564 RCV000674799 RCV000668616 RCV000670660 RCV000669464 RCV000664985 RCV000671545 RCV000671194 RCV000672638 RCV000674163 RCV000665362 RCV000671485 RCV000665269 RCV000674498 RCV000674589 RCV000670875 RCV000666838 RCV000674273 RCV000671600 RCV000666101 RCV000667450 RCV000672908 RCV000668253 RCV000673647 RCV000674516 RCV000674704 RCV000665959 RCV000674501 RCV000665400 RCV000674070 RCV000667538 RCV000670840 RCV000669594 RCV000670777 RCV000672062 RCV000672339 RCV000039705 RCV000039708 RCV000039723 RCV005606712 RCV002536992 RCV000988361 RCV000988362 RCV002549240 RCV005047194 RCV002479312 RCV001827443 RCV002562390 RCV001836156 RCV002491787 RCV005606788	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1G	Pathogenic	rs111033260	RCV000055970	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
USHER SYNDROME, TYPE ID/F, DIGENIC	Pathogenic	rs397517451	RCV000005223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aganglionic megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCHLEAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 23	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE ORGAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Non-Syndromic Hereditary Hearing Impairment	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Deafness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa-deafness syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE 1D	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE 1F	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE ID	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IF	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	30368385		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34948243	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27058588		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31164008		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	31540999, 35667888	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	25514360		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear Diseases	CTD_human_DG	10978835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	10978835		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	18719945, 23767834, 26011067, 29568747, 29692870, 31992338, 32048449, 36384460	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness Autosomal Recessive	Deafness	Pubtator	29568747	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 23	Deafness	Pubtator	22815625	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	10978835		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 23	Deafness	CLINVAR_DG	12711741, 22815625, 24105371, 25262649, 25307757, 25525159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 23	Deafness	UNIPROT_DG	14570705, 18719945, 28281779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 23	Deafness	BEFREE	18719945, 19107147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 23	Deafness	GENOMICS_ENGLAND_DG	23135401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 23	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	36729443	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35637313	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24965255		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	27304844	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	27304844	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	18719945, 25462672, 27766948, 28281779, 29692870, 37198144, 37232061	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	35580552, 35779349, 37198144	Associate	★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary retinal dystrophy	Hereditary Retinal Dystrophy	CLINGEN_DG	11138007, 11398101, 11487575, 12782354, 15634702, 15928608, 16260500		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	19816713		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	18719945	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	31164008		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	24965255		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37884635	Associate	★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	27918536		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11138007, 14570705, 15537665, 16799054, 16807332, 18085631, 18719945, 19107147, 19151506, 23467356, 23767834, 24164807, 25467981, 25930172, 26011067, 26279247, 28263850, 28281779, 28292353, 29069081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	15028842, 18719945, 19107147, 26279247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36740149	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Inflammatory Disease	Pelvic inflammatory disease	Pubtator	31937901	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	GWASCAT_DG	26029870		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36233050	Associate	★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	10978835		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11398101, 14570705, 15028842, 21940737, 25307757		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	25307757, 26338283, 39187782, 39212608	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22491018		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22491018		★☆☆☆☆ Found in Text Mining only
RHYNS syndrome	Rhyns syndrome	Pubtator	36384460	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27058588		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	GWASCAT_DG	31164008		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	31540999	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	26279247		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	LHGDN	11487575, 12711741, 18719945		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome	Usher Syndrome	CTD_human_DG	19309154		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome	Usher Syndrome	BEFREE	20097680, 20538994, 22690115, 25307757, 29142287		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome	Usher Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1	Usher Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1B	Usher syndrome	Pubtator	16679490, 23451239, 26791358	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome type 1F	Usher syndrome	Pubtator	17277737, 22815625, 25307757, 36384460, 37232061	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome Type IF	Usher syndrome	Pubtator	19107147	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	BEFREE	17653769, 18339676, 18719945, 21940737, 22815625		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	CTD_human_DG	19309154		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1D	Usher Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 1F	Usher Syndrome	BEFREE	11398101, 11487575, 14570705, 17277737, 20538994, 24965255, 25307757, 25930172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 1F	Usher Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINGEN_DG	11138007, 11398101, 11487575, 12782354, 15634702, 15928608, 16260500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINVAR_DG	12711741, 15537665, 24618850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	BEFREE	15028842, 15537665, 15590703, 17277737, 18339676, 20182609, 21940737, 22815625, 23045546, 26791358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY	Usher Syndrome	CLINGEN_DG	11138007, 11398101, 11487575, 12782354, 15634702, 15928608, 16260500		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IA, FORMERLY	Usher Syndrome	CLINGEN_DG	11138007, 11398101, 11487575, 12782354, 15634702, 15928608, 16260500		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	CLINGEN_DG	11138007, 11398101, 11487575, 12782354, 15634702, 15928608, 16260500		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE ID	Usher Syndrome	CLINVAR_DG	12711741, 22815625, 25262649, 25307757, 25525159, 26872967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE ID	Usher Syndrome	UNIPROT_DG	15537665, 18719945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE ID	Usher Syndrome	GENOMICS_ENGLAND_DG	23135401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type IF	Usher Syndrome	CLINVAR_DG	11398101, 11487575, 12711741, 14570705, 15028842, 15537665, 15660226, 16679490, 16963483, 18484607, 18719945, 19375528, 19683999, 21436283, 21569298, 22135276, 22815625, 23451239, 23591405, 24618850, 24705292, 24940003, 25262649, 25307757, 25404053, 25425308, 25525159, 25575603, 26166082, 26445815, 26791358, 27440999, 27743452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type IF	Usher Syndrome	BEFREE	11487575, 14570705, 17277737, 19107147, 20538994, 22690115, 22815625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type IF	Usher Syndrome	UNIPROT_DG	15660226, 22815625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type IF	Usher Syndrome	GENOMICS_ENGLAND_DG	23135401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type II	Usher Syndrome	CTD_human_DG	19309154		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type III	Usher Syndrome	CTD_human_DG	19309154		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	11060213, 16679490, 16963483, 17277737, 18719945, 22690115, 22815625, 24164807, 24618850, 25404053, 25575603, 26338283, 27440999, 34837038, 35580552, 35779349, 36011334	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vestibular Diseases	Vestibular disease	Pubtator	25307757	Associate	★☆☆☆☆ Found in Text Mining only