ADGRV1 (adhesion G protein-coupled receptor V1)

Gene

• Entrez ID: 84059
• Gene name: Adhesion G protein-coupled receptor V1
• Gene symbol: ADGRV1
• Synonyms (NCBI Gene): FEB4, GPR98, MASS1, USH2B, USH2C, VLGR1, VLGR1b
• Chromosome: 5
• Chromosome location: 5q14.3
• Summary: This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41302834	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, benign-likely-benign	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs41303344	G>A	Likely-pathogenic, benign-likely-benign	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs41303352	A>C,G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs41305898	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs41308297	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs61744480	A>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs111033517	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs113498662	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs115239207	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs121909761	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121909762	C>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, intron variant, missense variant
rs121909763	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs141701016	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs142097643	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs142356935	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs145294917	G>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs146954342	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs182990046	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant, non coding transcript variant
rs183851734	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs184127858	C>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs186999408	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs189967386	T>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs192561791	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant, missense variant, non coding transcript variant
rs199587998	C>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs199839743	C>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs200115167	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs200187681	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs200241260	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs200512504	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs200789563	G>A,T	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs200945405	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs201236317	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs201386977	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs201890097	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs201963060	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs202066007	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs202106463	A>C,G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant, non coding transcript variant
rs202110635	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs202190568	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs202211640	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs369793306	C>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, stop gained
rs369910075	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs371831553	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs371906040	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs371947306	G>T	Benign, benign-likely-benign, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs371981035	A>G	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs373352597	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs373551551	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs373780305	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs373902384	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs375062187	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs376401006	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs376636949	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs376689763	C>G,T	Pathogenic, uncertain-significance	Stop gained, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs377650415	G>A,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs397517426	T>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs397517429	->A	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs397517435	TG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs397517436	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397517441	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs527236131	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs527236132	G>C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs527236133	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs544077645	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs727503076	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs727504644	GAGATTACATTCG>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs727504777	C>G,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs730880369	->ACGAG	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs746618021	C>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs747622607	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs749630454	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs749956288	C>A,T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs752179149	->A	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs757696771	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs758718347	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs758834029	C>A,G,T	Pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs759771981	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs760841840	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs762094907	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs764583867	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs765376986	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs765574676	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs765849229	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs766355750	TCT>-	Likely-pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant, inframe deletion
rs767570081	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs768589991	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs777309662	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs778288846	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs780180737	CT>-,CTCT	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs794727347	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs794727584	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs796051863	->AACA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs796051864	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs796051866	AAGTGCTGAAATC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs796051867	AA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs869312178	C>G	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs876657647	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs876657694	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs876657695	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs878853348	TTCC>-	Likely-pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs886039893	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs900228710	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, missense variant, stop gained
rs1057517741	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057519383	G>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057520080	T>G	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1060499796	G>A	Pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1131691924	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1276890742	TG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1400695342	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1432643009	G>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1439933768	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554063934	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554068885	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1554072688	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554090072	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554107590	GAAAAGGAACCGT>TGGGA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554117973	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1554125179	C>-	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs1554135663	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1561416879	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1561441451	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1561543496	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1561660434	G>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1561701900	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1561740143	C>G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1561790371	G>T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1561805689	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1561843914	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1580567084	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580609047	ATAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580609185	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1580624630	T>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1581041519	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1581088032	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1581135405	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1581196586	A>-	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, 3 prime UTR variant
rs1581312596	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1581711527	G>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1581711551	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IBA
GO:0001965	Function	G-protein alpha-subunit binding	ISS
GO:0002141	Component	Stereocilia ankle link	ISS
GO:0002142	Component	Stereocilia ankle link complex	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	ISS
GO:0004930	Function	G protein-coupled receptor activity	NAS	11606593
GO:0005509	Function	Calcium ion binding	IDA	10976914
GO:0005515	Function	Protein binding	IPI	16301216, 16434480, 20440071
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16434480
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007154	Process	Cell communication	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	15203201
GO:0007399	Process	Nervous system development	NAS	11606593
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	14740321
GO:0009986	Component	Cell surface	IDA	10976914
GO:0010739	Process	Positive regulation of protein kinase A signaling	ISS
GO:0010855	Function	Adenylate cyclase inhibitor activity	IBA
GO:0010855	Function	Adenylate cyclase inhibitor activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11606593
GO:0016020	Component	Membrane	TAS	15203201
GO:0016787	Function	Hydrolase activity	IEA
GO:0030501	Process	Positive regulation of bone mineralization	ISS
GO:0031647	Process	Regulation of protein stability	ISS
GO:0032420	Component	Stereocilium	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045184	Process	Establishment of protein localization	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IMP	14740321
GO:0048496	Process	Maintenance of animal organ identity	IMP	15671307
GO:0048513	Process	Animal organ development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050877	Process	Nervous system process	IMP	12402266
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	ISS
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	14740321, 15671307
GO:0060113	Process	Inner ear receptor cell differentiation	NAS	25406310
GO:0060122	Process	Inner ear receptor cell stereocilium organization	ISS
GO:0060171	Component	Stereocilium membrane	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071277	Process	Cellular response to calcium ion	IBA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0097264	Process	Self proteolysis	ISS
GO:0098609	Process	Cell-cell adhesion	NAS	11606593
GO:1990075	Component	Periciliary membrane compartment	ISS
GO:1990696	Component	USH2 complex	ISS

Other IDs

• MIM: 602851
• HGNC: 17416
• e!Ensembl: ENSG00000164199

Protein

• UniProt ID: Q8WXG9
• Protein name: Adhesion G-protein coupled receptor V1 (ADGRV1) (EC 3.4.-.-) (G-protein coupled receptor 98) (Monogenic audiogenic seizure susceptibility protein 1 homolog) (Usher syndrome type-2C protein) (Very large G-protein coupled receptor 1) [Cleaved into: ADGRV1 s
• Protein function: G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03160	Calx-beta	30 → 117	Calx-beta domain	Domain
  PF03160	Calx-beta	133 → 237	Calx-beta domain	Domain
  PF03160	Calx-beta	252 → 363	Calx-beta domain	Domain
  PF03160	Calx-beta	379 → 488	Calx-beta domain	Domain
  PF03160	Calx-beta	666 → 746	Calx-beta domain	Domain
  PF03160	Calx-beta	763 → 861	Calx-beta domain	Domain
  PF03160	Calx-beta	876 → 979	Calx-beta domain	Domain
  PF03160	Calx-beta	993 → 1093	Calx-beta domain	Domain
  PF03160	Calx-beta	1107 → 1208	Calx-beta domain	Domain
  PF13385	Laminin_G_3	1336 → 1496		Domain
  PF03160	Calx-beta	1496 → 1546	Calx-beta domain	Domain
  PF03160	Calx-beta	1561 → 1666	Calx-beta domain	Domain
  PF03160	Calx-beta	1724 → 1809	Calx-beta domain	Domain
  PF03160	Calx-beta	1851 → 1952	Calx-beta domain	Domain
  PF03160	Calx-beta	1965 → 2079	Calx-beta domain	Domain
  PF03160	Calx-beta	2106 → 2206	Calx-beta domain	Domain
  PF03160	Calx-beta	2221 → 2324	Calx-beta domain	Domain
  PF03160	Calx-beta	2481 → 2543	Calx-beta domain	Domain
  PF03160	Calx-beta	2594 → 2676	Calx-beta domain	Domain
  PF03160	Calx-beta	2691 → 2790	Calx-beta domain	Domain
  PF03160	Calx-beta	2814 → 2925	Calx-beta domain	Domain
  PF03160	Calx-beta	2947 → 3048	Calx-beta domain	Domain
  PF03160	Calx-beta	3064 → 3172	Calx-beta domain	Domain
  PF03736	EPTP	3395 → 3438	EPTP domain	Repeat
  PF03160	Calx-beta	3582 → 3626	Calx-beta domain	Domain
  PF03160	Calx-beta	3640 → 3740	Calx-beta domain	Domain
  PF03160	Calx-beta	3783 → 3875	Calx-beta domain	Domain
  PF03160	Calx-beta	3901 → 4006	Calx-beta domain	Domain
  PF03160	Calx-beta	4020 → 4123	Calx-beta domain	Domain
  PF03160	Calx-beta	4255 → 4354	Calx-beta domain	Domain
  PF03160	Calx-beta	4386 → 4489	Calx-beta domain	Domain
  PF03160	Calx-beta	4660 → 4735	Calx-beta domain	Domain
  PF03160	Calx-beta	4996 → 5095	Calx-beta domain	Domain
  PF03160	Calx-beta	5280 → 5333	Calx-beta domain	Domain
  PF03160	Calx-beta	5484 → 5599	Calx-beta domain	Domain
  PF00002	7tm_2	5908 → 6148	7 transmembrane receptor (Secretin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at low levels in adult tissues. {ECO:0000269|PubMed:10976914}.
• Sequence:

  MSVFLGPGMPSASLLVNLLSALLILFVFGETEIRFTGQTEFVVNETSTTVIRLIIERIGE
  PANVTAIVSLYGEDAGDFFDTYAAAFIPAGETNRTVYIAVCDDDLPEPDETFIFHLTLQK
  PSANVKLGWPRTVTVTILSNDNAFGIISFNMLPSIAVSEPKGRNESMPLTLIREKGTYGM
  VMVTFEVEGGPNPPDEDLSPVKGNITFPPGRATVIYNLTVLDDEVPENDEIFLIQLKSVE
  GGAEINTSRNSIEIIIKKNDSPVRFLQSIYLVPEEDHILIIPVVRGKDNNGNLIGSDEYE
  VSISYAVTTGNSTAHAQQNLDFIDLQPNTTVVFPPFIHESHLKFQIVDDTIPEIAESFHI
  MLLKDTLQGDAVLISPSVVQVTIKPNDKPYGVLSFNSVLFERTVIIDEDRISRYEEITVV
  RNGGTHGNVSANWVLTRNSTDPSPVTADIRPSSGVLHFAQGQMLATIPLTVVDDDLPEEA
  EAYLLQILPHTIRGGAEVSEPAELLFYIQDSDDVYGLITFFPMENQKIESSPGERYLSLS
  FTRLGGTKGDVRLLYSVLYIPAGAVDPLQAKEGILNISRRNDLIFPEQKTQVTTKLPIRN
  DAFLQNGAHFLVQLETVELLNIIPLIPPISPRFGEICNISLLVTPAIANGEIGFLSNLPI
  ILHEPEDFAAEVVYIPLHRDGTDGQATVYWSLKPSGFNSKAVTPDDIGPFNGSVLFLSGQ
  SDTTINITIKGDDIPEMNETVTLSLDRVNVENQVLKSGYTSRDLIILENDDPGGVFEFSP
  ASRGPYVIKEGESVELHIIRSRGSLVKQFLHYRVEPRDSNEFYGNTGVLEFKPGEREIVI
  TLLARLDGIPELDEHYWVVLSSHGERESKLGSATIVNITILKNDDPHGIIEFVSDGLIVM
  INESKGDAIYSAVYDVVRNRGNFGDVSVSWVVSPDFTQDVFPVQGTVVFGDQEFSKNITI
  YSLPDEIPEEMEEFTVILLNGTGGAKVGNRTTATLRIRRNDDPIYFAEPRVVRVQEGETA
  NFTVLRNGSVDVTCMVQYATKDGKATARERDFIPVEKGETLIFEVGSRQQSISIFVNEDG
  IPETDEPFYIILLNSTGDTVVYQYGVATVIIEANDDPNGIFSLEPIDKAVEEGKTNAFWI
  LRHRGYFGSVSVSWQLFQNDSALQPGQEFYETSGTVNFMDGEEAKPIILHAFPDKIPEFN
  EFYFLKLVNISGGSPGPGGQLAETNLQVTVMVPFNDDPFGVFILDPECLEREVAEDVLSE
  DDMSYITNFTILRQQGVFGDVQLGWEILSSEFPAGLPPMIDFLLVGIFPTTVHLQQHMRR
  HHSGTDALYFTGLEGAFGTVNPKYHPSRNNTIANFTFSAWVMPNANTNGFIIAKDDGNGS
  IYYGVKIQTNESHVTLSLHYKTLGSNATYIAKTTVMKYLEESVWLHLLIILEDGIIEFYL
  DGNAMPRGIKSLKGEAITDGPGILRIGAGINGNDRFTGLMQDVRSYERKLTLEEIYELHA
  MPAKSDLHPISGYLEFRQGETNKSFIISARDDNDEEGEELFILKLVSVYGGARISEENTT
  ARLTIQKSDNANGLFGFTGACIPEIAEEGSTISCVVERTRGALDYVHVFYTISQIETDGI
  NYLVDDFANASGTITFLPWQRSEVLNIYVLDDDIPELNEYFRVTLVSAIPGDGKLGSTPT
  SGASIDPEKETTDITIKASDHPYGLLQFSTGLPPQPKDAMTLPASSVPHITVEEEDGEIR
  LLVIRAQGLLGRVTAEFRTVSLTAFSPEDYQNVAGTLEFQPGERYKYIFINITDNSIPEL
  EKSFKVELLNLEGGVAELFRVDGSGSGDGDMEFFLPTIHKRASLGVASQILVTIAASDHA
  HGVFEFSPESLFVSGTEPEDGYSTVTLNVIRHHGTLSPVTLHWNIDSDPDGDLAFTSGNI
  TFEIGQTSANITVEILPDEDPELDKAFSVSVLSVSSGSLGAHINATLTVLASDDPYGIFI
  FSEKNRPVKVEEATQNITLSIIRLKGLMGKVLVSYATLDDMEKPPYFPPNLARATQGRDY
  IPASGFALFGANQSEATIAISILDDDEPERSESVFIELLNSTLVAKVQSRSIPNSPRLGP
  KVETIAQLIIIANDDAFGTLQLSAPIVRVAENHVGPIINVTRTGGAFADVSVKFKAVPIT
  AIAGEDYSIASSDVVLLEGETSKAVPIYVINDIYPELEESFLVQLMNETTGGARLGALTE
  AVIIIEASDDPYGLFGFQITKLIVEEPEFNSVKVNLPIIRNSGTLGNVTVQWVATINGQL
  ATGDLRVVSGNVTFAPGETIQTLLLEVLADDVPEIEEVIQVQLTDASGGGTIGLDRIANI
  IIPANDDPYGTVAFAQMVYRVQEPLERSSCANITVRRSGGHFGRLLLFYSTSDIDVVALA
  MEEGQDLLSYYESPIQGVPDPLWRTWMNVSAVGEPLYTCATLCLKEQACSAFSFFSASEG
  PQCFWMTSWISPAVNNSDFWTYRKNMTRVASLFSGQAVAGSDYEPVTRQWAIMQEGDEFA
  NLTVSILPDDFPEMDESFLISLLEVHLMNISASLKNQPTIGQPNISTVVIALNGDAFGVF
  VIYNISPNTSEDGLFVEVQEQPQTLVELMIHRTGGSLGQVAVEWRVVGGTATEGLDFIGA
  GEILTFAEGETKKTVILTILDDSEPEDDESIIVSLVYTEGGSRILPSSDTVRVNILANDN
  VAGIVSFQTASRSVIGHEGEILQFHVIRTFPGRGNVTVNWKIIGQNLELNFANFSGQLFF
  PEGSLNTTLFVHLLDDNIPEEKEVYQVILYDVRTQGVPPAGIALLDAQGYAAVLTVEASD
  EPHGVLNFALSSRFVLLQEANITIQLFINREFGSLGAINVTYTTVPGMLSLKNQTVGNLA
  EPEVDFVPIIGFLILEEGETAAAINITILEDDVPELEEYFLVNLTYVGLTMAASTSFPPR
  LDSEGLTAQVIIDANDGARGVIEWQQSRFEVNETHGSLTLVAQRSREPLGHVSLFVYAQN
  LEAQVGLDYIFTPMILHFADGERYKNVNIMILDDDIPEGDEKFQLILTNPSPGLELGKNT
  IALIIVLANDDGPGVLSFNNSEHFFLREPTALYVQESVAVLYIVREPAQGLFGTVTVQFI
  VTEVNSSNESKDLTPSKGYIVLEEGVRFKALQISAILDTEPEMDEYFVCTLFNPTGGARL
  GVHVQTLITVLQNQAPLGLFSISAVENRATSIDIEEANRTVYLNVSRTNGIDLAVSVQWE
  TVSETAFGMRGMDVVFSVFQSFLDESASGWCFFTLENLIYGIMLRKSSVTVYRWQGIFIP
  VEDLNIENPKTCEAFNIGFSPYFVITHEERNEEKPSLNSVFTFTSGFKLFLVQTIIILES
  SQVRYFTSDSQDYLIIASQRDDSELTQVFRWNGGSFVLHQKLPVRGVLTVALFNKGGSVF
  LAISQANARLNSLLFRWSGSGFINFQEVPVSGTTEVEALSSANDIYLIFAENVFLGDQNS
  IDIFIWEMGQSSFRYFQSVDFAAVNRIHSFTPASGIAHILLIGQDMSALYCWNSERNQFS
  FVLEVPSAYDVASVTVKSLNSSKNLIALVGAHSHIYELAYISSHSDFIPSSGELIFEPGE
  REATIAVNILDDTVPEKEESFKVQLKNPKGGAEIGINDSVTITILSNDDAYGIVAFAQNS
  LYKQVEEMEQDSLVTLNVERLKGTYGRITIAWEADGSISDIFPTSGVILFTEGQVLSTIT
  LTILADNIPELSEVVIVTLTRITTEGVEDSYKGATIDQDRSKSVITTLPNDSPFGLVGWR
  AASVFIRVAEPKENTTTLQLQIARDKGLLGDIAIHLRAQPNFLLHVDNQATENEDYVLQE
  TIIIMKENIKEAHAEVSILPDDLPELEEGFIVTITEVNLVNSDFSTGQPSVRRPGMEIAE
  IMIEENDDPRGIFMFHVTRGAGEVITAYEVPPPLNVLQVPVVRLAGSFGAVNVYWKASPD
  SAGLEDFKPSHGILEFADKQVTAMIEITIIDDAEFELTETFNISLISVAGGGRLGDDVVV
  TVVIPQNDSPFGVFGFEEKTVMIDESLSSDDPDSYVTLTVVRSPGGKGTVRLEWTIDEKA
  KHNLSPLNGTLHFDETESQKTIVLHTLQDTVLEEDRRFTIQLISIDEVEISPVKGSASII
  IRGDKRASGEVGIAPSSRHILIGEPSAKYNGTAIISLVRGPGILGEVTVFWRIFPPSVGE
  FAETSGKLTMRDEQSAVIVVIQALNDDIPEEKSFYEFQLTAVSEGGVLSESSSTANITVV
  ASDSPYGRFAFSHEQLRVSEAQRVNITIIRSSGDFGHVRLWYKTMSGTAEAGLDFVPAAG
  ELLFEAGEMRKSLHVEILDDDYPEGPEEFSLTITKVELQGRGYDFTIQENGLQIDQPPEI
  GNISIVRIIIMKNDNAEGIIEFDPKYTAFEVEEDVGLIMIPVVRLHGTYGYVTADFISQS
  SSASPGGVDYILHGSTVTFQHGQNLSFINISIIDDNESEFEEPIEILLTGATGGAVLGRH
  LVSRIIIAKSDSPFGVIRFLNQSKISIANPNSTMILSLVLERTGGLLGEIQVNWETVGPN
  SQEALLPQNRDIADPVSGLFYFGEGEGGVRTIILTIYPHEEIEVEETFIIKLHLVKGEAK
  LDSRAKDVTLTIQEFGDPNGVVQFAPETLSKKTYSEPLALEGPLLITFFVRRVKGTFGEI
  MVYWELSSEFDITEDFLSTSGFFTIADGESEASFDVHLLPDEVPEIEEDYVIQLVSVEGG
  AELDLEKSITWFSVYANDDPHGVFALYSDRQSILIGQNLIRSIQINITRLAGTFGDVAVG
  LRISSDHKEQPIVTENAERQLVVKDGATYKVDVVPIKNQVFLSLGSNFTLQLVTVMLVGG
  RFYGMPTILQEAKSAVLPVSEKAANSQVGFESTAFQLMNITAGTSHVMISRRGTYGALSV
  AWTTGYAPGLEIPEFIVVGNMTPTLGSLSFSHGEQRKGVFLWTFPSPGWPEAFVLHLSGV
  QSSAPGGAQLRSGFIVAEIEPMGVFQFSTSSRNIIVSEDTQMIRLHVQRLFGFHSDLIKV
  SYQTTAGSAKPLEDFEPVQNGELFFQKFQTEVDFEITIINDQLSEIEEFFYINLTSVEIR
  GLQKFDVNWSPRLNLDFSVAVITILDNDDLAGMDISFPETTVAVAVDTTLIPVETESTTY
  LSTSKTTTILQPTNVVAIVTEATGVSAIPEKLVTLHGTPAVSEKPDVATVTANVSIHGTF
  SLGPSIVYIEEEMKNGTFNTAEVLIRRTGGFTGNVSITVKTFGERCAQMEPNALPFRGIY
  GISNLTWAVEEEDFEEQTLTLIFLDGERERKVSVQILDDDEPEGQEFFYVFLTNPQGGAQ
  IVEEKDDTGFAAFAMVIITGSDLHNGIIGFSEESQSGLELREGAVMRRLHLIVTRQPNRA
  FEDVKVFWRVTLNKTVVVLQKDGVNLVEELQSVSGTTTCTMGQTKCFISIELKPEKVPQV
  EVYFFVELYEATAGAAINNSARFAQIKILESDESQSLVYFSVGSRLAVAHKKATLISLQV
  ARDSGTGLMMSVNFSTQELRSAETIGRTIISPAISGKDFVITEGTLVFEPGQRSTVLDVI
  LTPETGSLNSFPKRFQIVLFDPKGGARIDKVYGTANITLVSDADSQAIWGLADQLHQPVN
  DDILNRVLHTISMKVATENTDEQLSAMMHLIEKITTEGKIQAFSVASRTLFYEILCSLIN
  PKRKDTRGFSHFAEVTENFAFSLLTNVTCGSPGEKSKTILDSCPYLSILALHWYPQQING
  HKFEGKEGDYIRIPERLLDVQDAEIMAGKSTCKLVQFTEYSSQQWFISGNNLPTLKNKVL
  SLSVKGQSSQLLTNDNEVLYRIYAAEPRIIPQTSLCLLWNQAAASWLSDSQFCKVVEETA
  DYVECACSHMSVYAVYARTDNLSSYNEAFFTSGFICISGLCLAVLSHIFCARYSMFAAKL
  LTHMMAASLGTQILFLASAYASPQLAEESCSAMAAVTHYLYLCQFSWMLIQSVNFWYVLV
  MNDEHTERRYLLFFLLSWGLPAFVVILLIVILKGIYHQSMSQIYGLIHGDLCFIPNVYAA
  LFTAALVPLTCLVVVFVVFIHAYQVKPQWKAYDDVFRGRTNAAEIPLILYLFALISVTWL
  WGGLHMAYRHFWMLVLFVIFNSLQGLYVFMVYFILHNQMCCPMKASYTVEMNGHPGPSTA
  FFTPGSGMPPAGGEISKSTQNLIGAMEEVPPDWERASFQQGSQASPDLKPSPQNGATFPS
  SGGYGQGSLIADEESQEFDDLIFALKTGAGLSVSDNESGQGSQEGGTLTDSQIVELRRIP
  IADTHL

• Sequence length: 6306

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
ADGRV1-related disorder	Pathogenic; Likely pathogenic	rs1236715896, rs1166741724, rs1233334494, rs1163308590, rs727504561, rs2531899300, rs2531645914, rs727503074, rs2530703270, rs2532442502, rs2532195034, rs2532076376, rs2531939747, rs775893405, rs1314104212, rs900228710, rs1292664749, rs1749485242	RCV004550101 RCV004552078 RCV005057820 RCV004738411 RCV004738473 RCV003123535 RCV004550614 RCV004550626 RCV004550587 RCV004552447 RCV004552456 RCV004552472 RCV004554154 RCV004550687 RCV004548971 RCV003323562 RCV004738156 RCV004587085	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADGRV1-related myoclonic epilepsy	Likely pathogenic	rs1581088032	RCV000991205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive sensorineural hearing loss	Likely pathogenic; Pathogenic	rs765574676	RCV000681534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs779948710	RCV001814311	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Febrile seizures, familial, 4	Likely pathogenic; Pathogenic	rs373015808, rs1472239682, rs983340336, rs1236715896, rs1751549898, rs749982150, rs1762027044, rs1279862720, rs1233334494, rs1471607090, rs768035707, rs778878007, rs727504777, rs727504644, rs1010784407, rs759668154, rs779424764, rs121909761, rs121909762, rs758718347, rs763670293, rs1417393007, rs1766727068, rs2531857217, rs1043304361, rs1755861358, rs749681584, rs2531785573, rs2532140040, rs752179149, rs767570081, rs777309662, rs747622607, rs757696771, rs765574676, rs371981035, rs373780305, rs764583867, rs778288846, rs1260874342, rs1185617030, rs769286352, rs1759155995, rs199806093	RCV005038168 RCV005861239 RCV005038207 RCV005038208 RCV002246383 RCV005038267 RCV005042461 RCV005042686 RCV005042575 RCV005038406 RCV005032021 RCV002274392 RCV005042305 RCV005031666 RCV005044955 RCV005034391 RCV005034599 RCV000007199 RCV000763550 RCV005031789 RCV005031841 RCV004796823 RCV005036886 RCV005036941 RCV005036948 RCV005040569 RCV005038596 RCV005038607 RCV003990431 RCV005033936 RCV005033937 RCV005034048 RCV000763551 RCV005034183 RCV003989579 RCV005031476 RCV000763549 RCV002489510 RCV005394623 RCV005036300 RCV005047289 RCV002505667 RCV005036500 RCV005860203	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs779948710, rs2150302151	RCV001375205 RCV001375349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs765574676	RCV001291205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic generalized epilepsy	Likely pathogenic; Pathogenic	rs757560169, rs2150388869, rs188772875	RCV001581095 RCV001581096 RCV001581097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs1414878464	RCV005931325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic; Likely pathogenic	rs2531999906, rs763670293	RCV006250229 RCV006250220	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs527236133, rs727503076, rs727504978, rs727504777, rs727504644, rs730880369, rs121909762, rs876657695, rs758718347, rs876657647, rs876657694, rs1554068885, rs769215629, rs397517418, rs376689763, rs371981035, rs397517426, rs373780305, rs397517429, rs397517435, rs397517436, rs397517441, rs1400695342, rs758834029	RCV000844604 RCV000150761 RCV000156391 RCV000156094 RCV000155906 RCV000156744 RCV000844603 RCV000221685 RCV000214702 RCV000221151 RCV000217974 RCV000605491 RCV000602394 RCV000039501 RCV000039510 RCV000039531 RCV000039548 RCV000039562 RCV000039565 RCV000039626 RCV000039627 RCV000039655 RCV000825554 RCV000825556	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs779948710, rs1462031084, rs796051866, rs878853348, rs752179149, rs777309662, rs769215629, rs1307312865, rs371981035, rs765376986, rs1745312538, rs1185617030, rs1748947002, rs1292664749, rs1754556067, rs1755688091, rs778188580, rs1758488956, rs1764301206, rs1364707671, rs1751572548, rs769286352, rs199806093	RCV004815496 RCV004815513 RCV004814851 RCV000225506 RCV001074761 RCV001075449 RCV001073335 RCV001073723 RCV001073981 RCV004818096 RCV004813698 RCV001073400 RCV001074207 RCV001075072 RCV001074287 RCV001074948 RCV001073722 RCV001073869 RCV001074947 RCV001074803 RCV001074338 RCV001075697 RCV004813993	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic	rs1581312596, rs1432643009	RCV000787528 RCV000787529	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome	Likely pathogenic; Pathogenic	rs763733110, rs1751549898, rs369341309, rs1053590019, rs2150231769, rs1163308590, rs1554081619, rs1326895760, rs779821643, rs776592421, rs1434051128, rs776971498, rs779424764, rs121909762, rs2531901971, rs2532001058, rs1337798741, rs2531999348, rs2531653814, rs769681955, rs2531705922, rs1474343714, rs766464017, rs1060499796, rs1554090072, rs777309662, rs1554117973, rs749956288, rs765574676, rs371981035, rs1561740143, rs746618021, rs1758488956, rs1764301206	RCV005419108 RCV001420796 RCV002274207 RCV005238101 RCV003492685 RCV004801071 RCV002266041 RCV002266138 RCV002282930 RCV002470139 RCV002510398 RCV002510445 RCV003389513 RCV000505021 RCV003155827 RCV003155859 RCV003226865 RCV003389534 RCV003389544 RCV003389550 RCV003389551 RCV003389554 RCV003988451 RCV005407113 RCV000504781 RCV000504819 RCV000504938 RCV000505136 RCV004689852 RCV003155052 RCV000786013 RCV003324548 RCV002509612 RCV003155357	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1	Likely pathogenic	rs1057519383	RCV000213866	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 2	Likely pathogenic; Pathogenic	rs371981035, rs1580905929, rs1581711527, rs1581041519, rs1581196586, rs929034631, rs1767988429, rs267600727	RCV001002859 RCV000857228 RCV000857229 RCV001002858 RCV001002860 RCV001199636 RCV001199635 RCV001002857	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 2A	Pathogenic	rs1764920338, rs1765197280, rs1755899012, rs780664266	RCV001199959 RCV001199958 RCV001199956 RCV001199957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 2C	Likely pathogenic; Pathogenic	rs2150063224, rs780011571, rs373015808, rs1754560628, rs983340336, rs1236715896, rs774386059, rs2149642220, rs2149715612, rs1758506826, rs749982150, rs1561740143, rs2149468550, rs1762027044, rs1279862720, rs1233334494, rs1053590019, rs1471607090, rs768035707, rs527236132, rs527236131, rs527236133, rs727504777, rs727504644, rs2531365389, rs2530815387, rs1745281144, rs1010784407, rs759668154, rs779424764, rs121909762, rs796051863, rs796051864, rs796051865, rs121909763, rs796051866, rs796051867, rs869312178, rs758718347, rs2531240476, rs763670293, rs886039893, rs993498251, rs1417393007, rs1766727068, rs2531757792, rs2531857217, rs1043304361, rs1755861358, rs749681584, rs2531785573, rs2531865376, rs1413833807, rs2531119855, rs752179149, rs767570081, rs369793306, rs1060499796, rs777309662, rs747622607, rs757696771, rs769215629, rs1561416879, rs765574676, rs371981035, rs373780305, rs1561660434, rs1561441451, rs1561543496, rs377650415, rs1561790371, rs1561843914, rs1561805689, rs1439933768, rs1580845586, rs765376986, rs1581135405, rs1580567084, rs1276890742, rs1580864592, rs764583867, rs778288846, rs1580624630, rs1260874342, rs1185617030, rs1292664749, rs769286352, rs267600727, rs1759155995, rs1766797963, rs1303930496	RCV001376191 RCV001376190 RCV005038168 RCV002272463 RCV005038207 RCV005038208 RCV001822892 RCV001822877 RCV001822878 RCV001544531 RCV005038267 RCV001728012 RCV001807945 RCV005042461 RCV005042686 RCV005042575 RCV002442931 RCV005038406 RCV005032021 RCV000132685 RCV000132686 RCV000132687 RCV005867955 RCV005031666 RCV002444381 RCV002510603 RCV002510604 RCV005044955 RCV005034391 RCV005034599 RCV000007200 RCV000007201 RCV000007202 RCV000007203 RCV000007204 RCV000007206 RCV000007207 RCV000210295 RCV005031789 RCV003155545 RCV005031841 RCV000256377 RCV003325930 RCV004796823 RCV005036886 RCV004783089 RCV005036941 RCV005036948 RCV005040569 RCV005038596 RCV005038607 RCV003991302 RCV004557232 RCV004594807 RCV001544532 RCV005033937 RCV000416421 RCV000454318 RCV005034048 RCV000763551 RCV000987544 RCV002221563 RCV000721956 RCV005034287 RCV005031476 RCV000763549 RCV000735713 RCV000770805 RCV000770808 RCV000770806 RCV000770810 RCV000770807 RCV000770809 RCV000987534 RCV000987538 RCV000987540 RCV000987541 RCV001002726 RCV001002709 RCV001002708 RCV001002725 RCV005394623 RCV001029959 RCV005036300 RCV005047289 RCV006249710 RCV002505667 RCV004584604 RCV005036500 RCV001251173 RCV005253780	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome, type IIC, GPR98/PDZD7 digenic	Pathogenic	rs1554135663	RCV000023211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs199806093	RCV005909170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal activity of mitochondrial respiratory chain	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriovenous malformation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-D-mannosidosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-MANNOSIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral arteriovenous malformation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS, FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS, FAMILIAL, 4	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile seizures, familial, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hand tremor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-OPERATIVE ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tremor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE 2C	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	35630584	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atopic IgE-mediated allergic disorder	Atopic IgE-Mediated Allergic Disorder	GWASCAT_DG	28927820		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Temporal lobe epilepsy	BEFREE	12095917, 15119829		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40473728	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	40473728	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
Cervix carcinoma	Cervix carcinoma	GWASCAT_DG	30412241		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30940143		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	28927820	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	23767834, 23967202, 25719458, 32048449, 34997062, 35062939	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	29025761	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11545713, 16273391, 29266188		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	19471318, 29261713, 35630584, 36399868	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	36399868	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Familial Temporal Lobe 1	Epilepsy	BEFREE	15119829		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	28393437		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	36223880	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	10587582, 12383277, 12402266, 16273391, 21567930, 24668705		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
FEBRILE CONVULSIONS, FAMILIAL, 4	Febrile seizures	BEFREE	16273391, 21567930		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS, FAMILIAL, 4	Febrile seizures	GENOMICS_ENGLAND_DG	9734811		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS, FAMILIAL, 4	Febrile seizures	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS, FAMILIAL, 4	Febrile seizures	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroid Tumor	Leiomyoma	BEFREE	18223324		★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	36399868	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	ORPHANET_DG	12402266		★☆☆☆☆ Found in Text Mining only
Generalized epilepsy with febrile seizures-plus	Epilepsy With Febrile Seizures Plus	Orphanet			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23206951	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19357116, 25743181, 31046701, 35062939	Associate	★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	BEFREE	28393437		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	7625352		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36793937	Associate	★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	34391192	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	18854872	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	35630584	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	21567930, 29266188		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	23767834, 23804846, 24123792, 24853665, 25528277, 25719458, 26226137, 26445815, 27068579, 28951997, 29048421		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25329327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	36223880	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obtundation status	Obtundation status	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35735060	Associate	★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	31620243		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	20440071		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	14740321		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	19357116, 26338283, 32050993, 34638692	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28991256, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	14740321, 19471318, 33831796	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	36399868	Associate	★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	29025761	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	14740321, 15671307, 19357116, 21567930, 21618827, 23180093, 28951997, 29883260, 29961073, 31046701		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome	Usher Syndrome	CLINVAR_DG	14740321, 24154662		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 2	Usher Syndrome	BEFREE	15671307, 19357117, 22147658, 23441107, 25743181		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 2	Usher Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 2	Usher Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 2A	Usher syndrome	Pubtator	20440071	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 2C	Usher syndrome	Pubtator	19357116, 29890953	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome Type IF	Usher syndrome	Pubtator	23441107, 25743181, 34638692	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 2C	Usher Syndrome	CLINVAR_DG	14740321, 26164827, 26872967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 2C	Usher Syndrome	CLINGEN_DG	14740321, 16775142, 17295842, 23035094, 25406310, 25572244, 25743181, 26432996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 2C	Usher Syndrome	UNIPROT_DG	14740321, 22147658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 2C	Usher Syndrome	GENOMICS_ENGLAND_DG	16775142, 9734811		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 2C	Usher Syndrome	BEFREE	19357116, 19357117, 29883260, 29890953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 2C	Usher Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINVAR_DG	21569298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type II	Usher Syndrome	BEFREE	14740321, 29106856		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IIA	Usher Syndrome	BEFREE	15671307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndromes	Usher syndrome	Pubtator	14740321, 19357116, 22135276, 25211151, 25404053, 26338283, 29890953, 31046701, 34148116, 35630584, 35779349, 36011334	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	18223324		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	25743181, 37466950	Associate	★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	29106856		★☆☆☆☆ Found in Text Mining only