CDH23 (cadherin related 23)

Gene

• Entrez ID: 64072
• Gene name: Cadherin related 23
• Gene symbol: CDH23
• Synonyms (NCBI Gene): CDHR23, PITA5, USH1D
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55947063	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, genic downstream transcript variant
rs71012280	AGGCGAGGCG>-,AGGCG,AGGCGAGGCGAGGCG,AGGCGAGGCGAGGCGAGGCG,AGGCGAGGCGAGGCGAGGCGAGGCGAGGCG	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	5 prime UTR variant, genic upstream transcript variant
rs111033270	G>A	Pathogenic	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs111033271	G>A	Pathogenic, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs111033458	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs111033473	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs111033487	C>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs111033536	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908349	G>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121908352	T>C	Pathogenic	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121908353	C>G,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908354	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121908355	G>A,C	Pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs139287714	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs142788731	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs142857685	G>C	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs181255269	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant, genic upstream transcript variant
rs181611778	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant, genic upstream transcript variant
rs185105210	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs186394654	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs188098974	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs188376296	G>A	Likely-benign, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs191021194	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs191154178	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs200324241	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs200649500	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs201024982	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs201053044	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs201297042	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs201536811	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs201733315	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs202052174	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs368828743	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs368848049	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs369396703	G>A	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, genic downstream transcript variant, intron variant
rs369501114	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs370554545	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs370568585	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs370983472	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs371932558	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs372388344	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs373269394	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs373631099	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs375292899	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs375358318	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs375907609	C>A,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant, upstream transcript variant
rs376560330	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs376881824	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant, upstream transcript variant
rs397517305	GCCATCCCACTGGACTACGAG>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, inframe deletion
rs397517313	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs397517331	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs397517337	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs397517341	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs397517342	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs397517349	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs397517350	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs397517353	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs397517354	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs397517362	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs397517367	TCAA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs540567272	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs547034667	G>A	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs550384315	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs727502919	G>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs727502931	G>A	Pathogenic	Genic downstream transcript variant, intron variant, genic upstream transcript variant
rs727502933	A>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs727504455	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, genic downstream transcript variant
rs727504761	ACTGGGAG>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs745571683	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, genic downstream transcript variant
rs747955135	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs750027965	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs750803248	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs753886326	C>-,CC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs756147087	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant
rs756336099	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs758382198	A>C,T	Pathogenic	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs761913744	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs763721044	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant
rs769433759	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs769742202	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs773464867	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs775093336	AC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant
rs776354402	G>A,C,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs778251205	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs786205612	CGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, upstream transcript variant, genic upstream transcript variant, genic downstream transcript variant
rs876657636	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs876657680	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, splice donor variant
rs876657682	G>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs876657756	A>G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs878853337	C>G,T	Likely-benign, pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, synonymous variant
rs1039517349	G>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1052484950	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1057519500	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057520662	G>T	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice donor variant
rs1057524265	G>A	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice donor variant
rs1060499714	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1060499788	A>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1060499789	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1060499790	T>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1060499791	C>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1060499792	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1060499793	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064795044	->TGGCTGTA	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064795722	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1190307769	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, upstream transcript variant
rs1200012430	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1230303971	C>A,T	Pathogenic	Stop gained, genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1264310782	G>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs1270566026	G>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs1278603247	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1292050472	G>A	Pathogenic	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1344509500	G>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1377982927	A>G	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1390562340	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1474524543	G>T	Pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs1554856042	ACTCC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554857840	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554858698	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554871816	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs1554874373	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs1554874879	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, genic downstream transcript variant
rs1554874884	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, genic downstream transcript variant
rs1554874900	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs1554876990	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554877007	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554877797	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1554877806	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1564791773	G>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant
rs1564796487	->T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1564796673	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, genic downstream transcript variant
rs1564803868	C>G	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1564805114	->CGAT	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1564807887	C>G	Likely-pathogenic	Genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1564808024	->A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1589292855	G>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1589420011	ACGGTA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant, splice donor variant
rs1589424694	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1589438942	G>A	Likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT879809	hsa-miR-342-5p	CLIP-seq
MIRT879810	hsa-miR-4433	CLIP-seq
MIRT879811	hsa-miR-4481	CLIP-seq
MIRT879812	hsa-miR-4651	CLIP-seq
MIRT879813	hsa-miR-4664-5p	CLIP-seq
MIRT879814	hsa-miR-4745-5p	CLIP-seq
MIRT879815	hsa-miR-608	CLIP-seq
MIRT879816	hsa-miR-665	CLIP-seq
MIRT879809	hsa-miR-342-5p	CLIP-seq
MIRT879810	hsa-miR-4433	CLIP-seq
MIRT879811	hsa-miR-4481	CLIP-seq
MIRT879812	hsa-miR-4651	CLIP-seq
MIRT879813	hsa-miR-4664-5p	CLIP-seq
MIRT879814	hsa-miR-4745-5p	CLIP-seq
MIRT879815	hsa-miR-608	CLIP-seq
MIRT879816	hsa-miR-665	CLIP-seq
MIRT2446669	hsa-miR-122	CLIP-seq
MIRT2446670	hsa-miR-1267	CLIP-seq
MIRT2446671	hsa-miR-3135b	CLIP-seq
MIRT2446672	hsa-miR-3652	CLIP-seq
MIRT2446673	hsa-miR-3664-5p	CLIP-seq
MIRT2446674	hsa-miR-4423-5p	CLIP-seq
MIRT2446675	hsa-miR-4430	CLIP-seq
MIRT2446676	hsa-miR-4492	CLIP-seq
MIRT2446677	hsa-miR-4498	CLIP-seq
MIRT2446678	hsa-miR-4639-3p	CLIP-seq
MIRT2446679	hsa-miR-624	CLIP-seq
MIRT2446680	hsa-miR-762	CLIP-seq
MIRT2500670	hsa-miR-1915	CLIP-seq
MIRT2500671	hsa-miR-2355-5p	CLIP-seq
MIRT2500672	hsa-miR-4270	CLIP-seq
MIRT879810	hsa-miR-4433	CLIP-seq
MIRT2500673	hsa-miR-4441	CLIP-seq
MIRT2500674	hsa-miR-4459	CLIP-seq
MIRT2500675	hsa-miR-455-3p	CLIP-seq
MIRT2500676	hsa-miR-4676-5p	CLIP-seq
MIRT2500677	hsa-miR-4768-3p	CLIP-seq
MIRT2500678	hsa-miR-575	CLIP-seq
MIRT2500670	hsa-miR-1915	CLIP-seq
MIRT2500671	hsa-miR-2355-5p	CLIP-seq
MIRT2500672	hsa-miR-4270	CLIP-seq
MIRT879810	hsa-miR-4433	CLIP-seq
MIRT2500673	hsa-miR-4441	CLIP-seq
MIRT2500674	hsa-miR-4459	CLIP-seq
MIRT2500675	hsa-miR-455-3p	CLIP-seq
MIRT2500676	hsa-miR-4676-5p	CLIP-seq
MIRT2500677	hsa-miR-4768-3p	CLIP-seq
MIRT2500678	hsa-miR-575	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12485990
GO:0005813	Component	Centrosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006816	Process	Calcium ion transport	IMP	17234811
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007605	Process	Sensory perception of sound	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	16679490, 17234811
GO:0007626	Process	Locomotory behavior	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11138009
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	11138009
GO:0016342	Component	Catenin complex	IBA
GO:0016477	Process	Cell migration	IBA
GO:0031175	Process	Neuron projection development	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS	12485990
GO:0032426	Component	Stereocilium tip	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0045202	Component	Synapse	IEA
GO:0045296	Function	Cadherin binding	IBA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	16679490
GO:0046872	Function	Metal ion binding	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	16679490
GO:0050957	Process	Equilibrioception	IMP	16679490
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IMP	17234811
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060091	Component	Kinocilium	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098683	Component	Cochlear hair cell ribbon synapse	IEA
GO:0098684	Component	Photoreceptor ribbon synapse	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA

Other IDs

• MIM: 605516
• HGNC: 13733
• e!Ensembl: ENSG00000107736

Protein

• UniProt ID: Q9H251
• Protein name: Cadherin-23 (Otocadherin)
• Protein function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bun
• PDB: 2KBR, 2KBS, 2LSR, 5TFM, 5VVM, 5WJ8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	39 → 122	Cadherin domain	Domain
  PF00028	Cadherin	137 → 227	Cadherin domain	Domain
  PF00028	Cadherin	241 → 337	Cadherin domain	Domain
  PF00028	Cadherin	465 → 552	Cadherin domain	Domain
  PF00028	Cadherin	566 → 662	Cadherin domain	Domain
  PF00028	Cadherin	676 → 769	Cadherin domain	Domain
  PF00028	Cadherin	783 → 879	Cadherin domain	Domain
  PF00028	Cadherin	895 → 986	Cadherin domain	Domain
  PF00028	Cadherin	1000 → 1093	Cadherin domain	Domain
  PF00028	Cadherin	1107 → 1199	Cadherin domain	Domain
  PF00028	Cadherin	1215 → 1304	Cadherin domain	Domain
  PF00028	Cadherin	1318 → 1409	Cadherin domain	Domain
  PF00028	Cadherin	1424 → 1518	Cadherin domain	Domain
  PF00028	Cadherin	1533 → 1625	Cadherin domain	Domain
  PF00028	Cadherin	1639 → 1735	Cadherin domain	Domain
  PF00028	Cadherin	1751 → 1842	Cadherin domain	Domain
  PF00028	Cadherin	1856 → 1940	Cadherin domain	Domain
  PF00028	Cadherin	2074 → 2165	Cadherin domain	Domain
  PF00028	Cadherin	2179 → 2284	Cadherin domain	Domain
  PF00028	Cadherin	2301 → 2393	Cadherin domain	Domain
  PF00028	Cadherin	2407 → 2500	Cadherin domain	Domain
  PF00028	Cadherin	2514 → 2602	Cadherin domain	Domain
  PF00028	Cadherin	2619 → 2712	Cadherin domain	Domain
  PF00028	Cadherin	2733 → 2823	Cadherin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Particularly strong expression in the retina (PubMed:11138009). Found also in the cochlea. {ECO:0000269|PubMed:11138009}.
• Sequence:

  MGRHVATSCHVAWLLVLISGCWGQVNRLPFFTNHFFDTYLLISEDTPVGSSVTQLLAQDM
  DNDPLVFGVSGEEASRFFAVEPDTGVVWLRQPLDRETKSEFTVEFSVSDHQGVITRKVNI
  QVGDVNDNAPTFHNQPYSVRIPENTPVGTPIFIVNATDPDLGAGGSVLYSFQPPSQFFAI
  DSARGIVTVIRELDYETTQAYQLTVNATDQDKTRPLSTLANLAIIITDVQDMDPIFINLP
  YSTNIYEHSPPGTTVRIITAIDQDKGRPRGIGYTIVSGNTNSIFALDYISGVLTLNGLLD
  RENPLYSHGFILTVKGTELNDDRTPSDATVTTTFNILVIDINDNAPEFNSSEYSVAITEL
  AQVGFALPLFIQVVDKDENLGLNSMFEVYLVGNNSHHFIISPTSVQGKADIRIRVAIPLD
  YETVDRYDFDLFANESVPDHVGYAKVKITLINENDNRPIFSQPLYNISLYENVTVGTSVL
  TVLATDNDAGTFGEVSYFFSDDPDRFSLDKDTGLIMLIARLDYELIQRFTLTIIARDGGG
  EETTGRVRINVLDVNDNVPTFQKDAYVGALRENEPSVTQLVRLRATDEDSPPNNQITYSI
  VSASAFGSYFDISLYEGYGVISVSRPLDYEQISNGLIYLTVMAMDAGNPPLNSTVPVTIE
  VFDENDNPPTFSKPAYFVSVVENIMAGATVLFLNATDLDRSREYGQESIIYSLEGSTQFR
  INARSGEITTTSLLDRETKSEYILIVRAVDGGVGHNQKTGIATVNITLLDINDNHPTWKD
  APYYINLVEMTPPDSDVTTVVAVDPDLGENGTLVYSIQPPNKFYSLNSTTGKIRTTHAML
  DRENPDPHEAELMRKIVVSVTDCGRPPLKATSSATVFVNLLDLNDNDPTFQNLPFVAEVL
  EGIPAGVSIYQVVAIDLDEGLNGLVSYRMPVGMPRMDFLINSSSGVVVTTTELDRERIAE
  YQLRVVASDAGTPTKSSTSTLTIHVLDVNDETPTFFPAVYNVSVSEDVPREFRVVWLNCT
  DNDVGLNAELSYFITGGNVDGKFSVGYRDAVVRTVVGLDRETTAAYMLILEAIDNGPVGK
  RHTGTATVFVTVLDVNDNRPIFLQSSYEASVPEDIPEGHSILQLKATDADEGEFGRVWYR
  ILHGNHGNNFRIHVSNGLLMRGPRPLDRERNSSHVLIVEAYNHDLGPMRSSVRVIVYVED
  INDEAPVFTQQQYSRLGLRETAGIGTSVIVVQATDRDSGDGGLVNYRILSGAEGKFEIDE
  STGLIITVNYLDYETKTSYMMNVSATDQAPPFNQGFCSVYITLLNELDEAVQFSNASYEA
  AILENLALGTEIVRVQAYSIDNLNQITYRFNAYTSTQAKALFKIDAITGVITVQGLVDRE
  KGDFYTLTVVADDGGPKVDSTVKVYITVLDENDNSPRFDFTSDSAVSIPEDCPVGQRVAT
  VKAWDPDAGSNGQVVFSLASGNIAGAFEIVTTNDSIGEVFVARPLDREELDHYILQVVAS
  DRGTPPRKKDHILQVTILDINDNPPVIESPFGYNVSVNENVGGGTAVVQVRATDRDIGIN
  SVLSYYITEGNKDMAFRMDRISGEIATRPAPPDRERQSFYHLVATVEDEGTPTLSATTHV
  YVTIVDENDNAPMFQQPHYEVLLDEGPDTLNTSLITIQALDLDEGPNGTVTYAIVAGNIV
  NTFRIDRHMGVITAAKELDYEISHGRYTLIVTATDQCPILSHRLTSTTTVLVNVNDINDN
  VPTFPRDYEGPFEVTEGQPGPRVWTFLAHDRDSGPNGQVEYSIMDGDPLGEFVISPVEGV
  LRVRKDVELDRETIAFYNLTICARDRGMPPLSSTMLVGIRVLDINDNDPVLLNLPMNITI
  SENSPVSSFVAHVLASDADSGCNARLTFNITAGNRERAFFINATTGIVTVNRPLDRERIP
  EYKLTISVKDNPENPRIARRDYDLLLIFLSDENDNHPLFTKSTYQAEVMENSPAGTPLTV
  LNGPILALDADQDIYAVVTYQLLGAQSGLFDINSSTGVVTVRSGVIIDREAFSPPILELL
  LLAEDIGLLNSTAHLLITILDDNDNRPTFSPATLTVHLLENCPPGFSVLQVTATDEDSGL
  NGELVYRIEAGAQDRFLIHLVTGVIRVGNATIDREEQESYRLTVVATDRGTVPLSGTAIV
  TILIDDINDSRPEFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVGIVAKDDT
  DRLVPNQEDAFAVNINTGSVMVKSPMNRELVATYEVTLSVIDNASDLPERSVSVPNAKLT
  VNVLDVNDNTPQFKPFGITYYMERILEGATPGTTLIAVAAVDPDKGLNGLVTYTLLDLVP
  PGYVQLEDSSAGKVIANRTVDYEEVHWLNFTVRASDNGSPPRAAEIPVYLEIVDINDNNP
  IFDQPSYQEAVFEDVPVGTIILTVTATDADSGNFALIEYSLGDGESKFAINPTTGDIYVL
  SSLDREKKDHYILTALAKDNPGDVASNRRENSVQVVIQVLDVNDCRPQFSKPQFSTSVYE
  NEPAGTSVITMMATDQDEGPNGELTYSLEGPGVEAFHVDMDSGLVTTQRPLQSYEKFSLT
  VVATDGGEPPLWGTTMLLVEVIDVNDNRPVFVRPPNGTILHIREEIPLRSNVYEVYATDK
  DEGLNGAVRYSFLKTAGNRDWEFFIIDPISGLIQTAQRLDRESQAVYSLILVASDLGQPV
  PYETMQPLQVALEDIDDNEPLFVRPPKGSPQYQLLTVPEHSPRGTLVGNVTGAVDADEGP
  NAIVYYFIAAGNEEKNFHLQPDGCLLVLRDLDREREAIFSFIVKASSNRSWTPPRGPSPT
  LDLVADLTLQEVRVVLEDINDQPPRFTKAEYTAGVATDAKVGSELIQVLALDADIGNNSL
  VFYSILAIHYFRALANDSEDVGQVFTMGSMDGILRTFDLFMAYSPGYFVVDIVARDLAGH
  NDTAIIGIYILRDDQRVKIVINEIPDRVRGFEEEFIHLLSNITGAIVNTDNVQFHVDKKG
  RVNFAQTELLIHVVNRDTNRILDVDRVIQMIDENKEQLRNLFRNYNVLDVQPAISVRLPD
  DMSALQMAIIVLAILLFLAAMLFVLMNWYYRTVHKRKLKAIVAGSAGNRGFIDIMDMPNT
  NKYSFDGANPVWLDPFCRNLELAAQAEHEDDLPENLSEIADLWNSPTRTHGTFGREPAAV
  KPDDDRYLRAAIQEYDNIAKLGQIIREGPIKGSLLKVVLEDYLRLKKLFAQRMVQKASSC
  HSSISELIQTELDEEPGDHSPGQGSLRFRHKPPVELKGPDGIHVVHGSTGTLLATDLNSL
  PEEDQKGLGRSLETLTAAEATAFERNARTESAKSTPLHKLRDVIMETPLEITEL

• Sequence length: 3354

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 12	Pathogenic; Likely pathogenic	rs2132596686, rs2132751525, rs767343063, rs2132929769, rs768834772, rs773926246, rs2133006702, rs780987516, rs2132682822, rs779222449, rs1564623280, rs2132745856, rs2132800007, rs2132751512, rs2132985083, rs764949139, rs2133002929, rs1841497902, rs1385831846, rs757675676, rs2132358279, rs2132965891, rs765026901, rs2494071047, rs373838930, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs796051861, rs121908354, rs1865609793, rs876657754, rs753886326, rs751788879, rs878853337, rs1224073597, rs1260523958, rs2493815701, rs1841971198, rs1483001216, rs1865810132, rs2132977459, rs2494214598, rs1325941288, rs2493463533, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs756147087, rs1554874373, rs1554856042, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs769433759, rs936479651, rs397517323, rs397517329, rs397517337, rs183431253, rs367928692, rs747955135, rs745571683, rs762226905, rs1564803868, rs1564795354, rs1344509500, rs1564759653, rs1564791773, rs1200012430, rs1589384283, rs750027965, rs1278603247, rs771766431, rs754876029, rs1841921374, rs1306728898, rs1850169561, rs1564804195, rs774559018	RCV001726513 RCV005634122 RCV002250754 RCV005040252 RCV005040244 RCV005040247 RCV001706732 RCV001810087 RCV001542766 RCV001822941 RCV001823212 RCV001823241 RCV001823224 RCV001809327 RCV001809328 RCV002503392 RCV005042470 RCV005042502 RCV003136378 RCV005042687 RCV002052209 RCV002248479 RCV002273330 RCV002283895 RCV005049433 RCV000763215 RCV000005201 RCV000005202 RCV000005204 RCV000005205 RCV000005206 RCV005041987 RCV000005211 RCV005045010 RCV003155129 RCV005044436 RCV005044468 RCV005044469 RCV003155559 RCV003155560 RCV005047469 RCV005047570 RCV005047621 RCV005047622 RCV005047763 RCV005052892 RCV005052893 RCV005052894 RCV000454219 RCV000454253 RCV000454126 RCV000454185 RCV000454274 RCV000454137 RCV000454163 RCV000515744 RCV002283487 RCV000515680 RCV000515704 RCV000515672 RCV000515701 RCV000515743 RCV000515683 RCV000515725 RCV000515741 RCV000515678 RCV005044898 RCV002248478 RCV002283447 RCV000763214 RCV005042114 RCV000763216 RCV000763217 RCV002467453 RCV002507320 RCV000761609 RCV000761262 RCV000770814 RCV000770813 RCV000770812 RCV000770811 RCV005047071 RCV002501059 RCV002505534 RCV005047197 RCV005047285 RCV005047297 RCV005047298 RCV005623403 RCV005040079 RCV001256636 RCV005040132	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs868188730	RCV001256676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CDH23-related disorder	Pathogenic; Likely pathogenic	rs111033270, rs111033271, rs1864697430, rs1369023278, rs1841971198, rs397517342, rs183431253, rs367928692, rs745571683	RCV004528082 RCV004757097 RCV004531706 RCV004528033 RCV004528739 RCV004534833 RCV004757122 RCV004757123 RCV003596546	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood onset hearing loss	Pathogenic; Likely pathogenic	rs1853882557, rs1865887896, rs746152246, rs111033270	RCV001328019 RCV001328017 RCV001328018 RCV001328020	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs1564805114	RCV000679812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs2132805287, rs780987516, rs2132945762	RCV001814325 RCV001814341 RCV001814476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs183431253	RCV005890074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs2132751525, rs868188730	RCV001375050 RCV001256676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Pathogenic; Likely pathogenic	rs121908348, rs121908349, rs121908350, rs756147087, rs397517323, rs111033247, rs367928692, rs1564805114, rs762226905, rs771766431, rs780917129, rs552998089, rs774559018	RCV001291217 RCV001291219 RCV001291211 RCV001291208 RCV001291210 RCV001291214 RCV001291215 RCV001291222 RCV001291216 RCV001291209 RCV001291220 RCV001291213 RCV001291221	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs111033271, rs397517329, rs745571683	RCV006276048 RCV005644496 RCV006255182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic	rs121908354, rs750880909	RCV001261012 RCV003239292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary adenoma 5, multiple types	Likely pathogenic; Pathogenic	rs767343063, rs1347367555, rs1274105133, rs1204500829, rs1589344004, rs2132820264, rs2132929769, rs768834772, rs1841773052, rs773926246, rs780987516, rs764949139, rs2132984089, rs2132968121, rs2132927249, rs1397549896, rs2133002929, rs1841497902, rs2132514996, rs1385831846, rs757675676, rs779974496, rs2132400338, rs773004408, rs727502919, rs373838930, rs769870573, rs1204040319, rs1264452815, rs1841599143, rs121908347, rs111033270, rs727502931, rs121908348, rs121908349, rs111033271, rs121908351, rs796051861, rs121908354, rs2493960671, rs1865609793, rs2494400341, rs2494374376, rs769433759, rs2132359280, rs1589149178, rs876657754, rs753886326, rs773464867, rs751788879, rs878853337, rs2493815701, rs1841971198, rs2493485118, rs2494092869, rs2494384452, rs1275390489, rs2494214314, rs2133003145, rs2494403239, rs771305669, rs2494374535, rs2493704771, rs2494362254, rs2494210085, rs2493821283, rs2133001222, rs1246417094, rs2494344217, rs876657759, rs2494435751, rs2493197193, rs2494416446, rs2494152459, rs2494357401, rs2494459662, rs1483001216, rs2493697101, rs2494385784, rs757261031, rs1060499714, rs1313316497, rs2494416989, rs2494438025, rs1410428272, rs2493961036, rs2494405112, rs1841785520, rs2494001262, rs374797859, rs2494400346, rs2494384315, rs2132988609, rs2494187565, rs996451417, rs2494214321, rs2132965979, rs2494214379, rs2494184441, rs2494419179, rs2494184862, rs2494384051, rs2492823196, rs2132820119, rs2493960489, rs778337904, rs2494061323, rs111033509, rs2494220986, rs2494436560, rs2494047742, rs1480568833, rs2494209917, rs2494385765, rs1865810132, rs2494464632, rs2494062084, rs876657682, rs1271686561, rs2494444180, rs2494022190, rs2494395471, rs2494214547, rs1479271521, rs2494451258, rs1564808313, rs2132977459, rs746152246, rs2493939214, rs2494214598, rs2493938011, rs2494185218, rs754930934, rs2494418097, rs2494451599, rs1403470484, rs771715532, rs2494214000, rs2494444781, rs2494400595, rs2494021576, rs1325941288, rs770659035, rs2494403705, rs2132733452, rs2493463533, rs2494447941, rs2494152884, rs2493485428, rs2494377215, rs2132664369, rs1057524265, rs1060499789, rs750803248, rs756147087, rs758382198, rs750880909, rs1554874900, rs1554877806, rs1474524543, rs866435331, rs936479651, rs397517323, rs397517327, rs397517329, rs397517337, rs397517341, rs397517342, rs183431253, rs367928692, rs397517350, rs370983472, rs397517367, rs747955135, rs745571683, rs762226905, rs1190307769, rs1564808024, rs1344509500, rs1589424694, rs1200012430, rs1589384283, rs1377982927, rs1230303971, rs750027965, rs1292050472, rs1278603247, rs1862873659, rs1338446830, rs771766431, rs759981467, rs780917129, rs1221464948, rs1166948274, rs754876029, rs762805265, rs1841921374, rs1379171478, rs1375264465, rs771210121, rs1841758961, rs764824311, rs1393567447, rs1857435780, rs1306728898, rs1850169561, rs1857755312, rs1564804195, rs774559018	RCV003473894 RCV003473916 RCV003473895 RCV003473915 RCV003473956 RCV003473923 RCV003473970 RCV005040252 RCV005040244 RCV003473952 RCV005040247 RCV003474004 RCV002503392 RCV004571696 RCV003475219 RCV003475235 RCV003475236 RCV005042470 RCV004571584 RCV004571715 RCV003475245 RCV003475292 RCV003475258 RCV003475272 RCV003475309 RCV004567171 RCV003474812 RCV004572730 RCV003475492 RCV003475494 RCV003475515 RCV003472971 RCV000763215 RCV003472973 RCV003472974 RCV003472975 RCV003472976 RCV003472977 RCV005041987 RCV002476931 RCV003475438 RCV005045010 RCV003475443 RCV003475447 RCV003475465 RCV003475467 RCV003475464 RCV003474999 RCV005044436 RCV003474995 RCV005044468 RCV003475052 RCV005047469 RCV003475574 RCV003474479 RCV003474480 RCV003474481 RCV003474483 RCV003474484 RCV003474485 RCV003474486 RCV003474487 RCV003474489 RCV003474490 RCV003474492 RCV003474493 RCV003474494 RCV003474495 RCV003474496 RCV003474497 RCV003474498 RCV003474502 RCV003474503 RCV003474504 RCV003474505 RCV003474506 RCV003474507 RCV003474508 RCV003474509 RCV003474510 RCV003474511 RCV003474513 RCV003474514 RCV003474515 RCV003474516 RCV003474517 RCV003474518 RCV003474519 RCV003474521 RCV003474522 RCV003474523 RCV003474524 RCV003474525 RCV003474526 RCV003474527 RCV003474529 RCV003474530 RCV003474531 RCV003474532 RCV003474533 RCV003474534 RCV003474535 RCV003474536 RCV003474537 RCV003474538 RCV003474539 RCV003474541 RCV003474542 RCV003474543 RCV003474544 RCV003474545 RCV003474546 RCV003474547 RCV003474548 RCV003475611 RCV003475612 RCV005047622 RCV003475615 RCV003475616 RCV003475617 RCV003475618 RCV003475619 RCV003475620 RCV003475621 RCV003475622 RCV003475624 RCV004574114 RCV004573162 RCV004573147 RCV005047763 RCV004573371 RCV004575520 RCV004575521 RCV004575522 RCV004575523 RCV004575524 RCV004575525 RCV004575526 RCV004575527 RCV004575528 RCV004575529 RCV004575531 RCV004575532 RCV004575533 RCV004575534 RCV004575535 RCV004575536 RCV004575537 RCV004575539 RCV004575540 RCV004575541 RCV004575542 RCV004575543 RCV004575544 RCV004575546 RCV003476017 RCV003476019 RCV003476174 RCV003476209 RCV003476212 RCV003476213 RCV005044764 RCV003471975 RCV003471970 RCV004568332 RCV004568339 RCV003475310 RCV004566808 RCV003473276 RCV000763214 RCV005042114 RCV003473278 RCV003473279 RCV000763216 RCV000763217 RCV003473283 RCV003473284 RCV003473287 RCV003472274 RCV002507320 RCV005049679 RCV003472282 RCV003472285 RCV002493408 RCV003472407 RCV003472358 RCV002501059 RCV004569665 RCV003473524 RCV002505534 RCV003473549 RCV003473555 RCV003473643 RCV003473696 RCV003473693 RCV003473670 RCV004570302 RCV003473681 RCV003473676 RCV003473704 RCV003473707 RCV005047298 RCV004570508 RCV003473770 RCV004570425 RCV003473736 RCV003473739 RCV003473795 RCV003473817 RCV003473825 RCV005040079 RCV003473818 RCV003473838 RCV003473848	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727502919, rs727502933, rs727504761, rs111033270, rs727502931, rs111033271, rs876657754, rs876657680, rs753886326, rs876657636, rs876657682, rs773464867, rs1554877806, rs769433759, rs1474524543, rs397517313, rs397517323, rs397517326, rs397517327, rs397517329, rs397517331, rs397517337, rs397517341, rs397517342, rs397517346, rs111033247, rs183431253, rs367928692, rs111033473, rs397517350, rs370983472, rs397517353, rs397517354, rs397517362, rs397517367, rs745571683	RCV000150272 RCV000150322 RCV000156071 RCV000844622 RCV000844693 RCV000599622 RCV000213965 RCV000215736 RCV000218031 RCV000220607 RCV000221407 RCV000214408 RCV000604670 RCV000844621 RCV000603092 RCV000039119 RCV000039153 RCV000039160 RCV000039163 RCV000039177 RCV000039188 RCV000039207 RCV000039223 RCV000039224 RCV000039230 RCV000039234 RCV000039235 RCV000039236 RCV000039244 RCV000039259 RCV000039265 RCV000039275 RCV000039277 RCV000039289 RCV000039314 RCV000825513	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2132751525, rs373838930, rs1841926049, rs111033270, rs111033271, rs2494374376, rs751788879, rs878853337, rs367928692, rs370983472, rs1190307769, rs769742202, rs1278603247, rs1861132418, rs1865149889, rs1866696630, rs754876029, rs1841315122, rs1841460358, rs764824311, rs1865145294, rs769524849, rs1280991447, rs762805265, rs1841921374, rs1393567447	RCV004815494 RCV001075025 RCV004817036 RCV001073594 RCV004814828 RCV004817131 RCV000225441 RCV000225547 RCV004814961 RCV004814962 RCV001075279 RCV000787806 RCV004818179 RCV001073776 RCV001075190 RCV001075253 RCV001074363 RCV001073388 RCV001073389 RCV001075817 RCV001075818 RCV001073483 RCV001075278 RCV001075272 RCV001075252 RCV004813922	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic	rs1589420011	RCV000787805	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs2494385418, rs756147087	RCV002509884 RCV001004777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic retinitis pigmentosa	Pathogenic	rs750880909	RCV005418185	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2132938020	RCV005925489	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome	Likely pathogenic; Pathogenic	rs1474524543, rs1431027601, rs2132929769, rs2132751512, rs779425775, rs2132968121, rs1385831846, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs876657754, rs753886326, rs2133002381, rs2493815701, rs775202656, rs2493960548, rs2492822470, rs2493938342, rs2494061572, rs2494339264, rs2493960610, rs1264310782, rs936479651, rs370983472, rs745571683, rs762226905, rs1200012430, rs771766431, rs1346156899, rs1393567447	RCV002509678 RCV005237773 RCV003226470 RCV004690139 RCV002274223 RCV004801108 RCV003230720 RCV002222340 RCV005887299 RCV003387716 RCV003987312 RCV003492284 RCV005430917 RCV000710339 RCV003389464 RCV003155611 RCV003226842 RCV003389515 RCV003389520 RCV003389522 RCV003389526 RCV003389543 RCV003324223 RCV004699138 RCV004782416 RCV005058180 RCV003330411 RCV005240529 RCV002265874 RCV003230593 RCV003323792 RCV006269288 RCV002298910	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1	Likely pathogenic; Pathogenic	rs1347367555, rs1204500829, rs762805265, rs1474524543, rs1861138703, rs1564791773, rs121908347, rs111033270, rs121908349, rs111033271, rs121908351, rs796051861, rs121908354, rs2494021726, rs2494022190, rs1057520662, rs769433759, rs866435331, rs397517329, rs397517342, rs367928692, rs397517350, rs370983472, rs397517367, rs745571683, rs1039517349, rs1190307769, rs1564796673, rs1564808024, rs1230303971, rs1589292855, rs750027965, rs1292050472, rs771766431, rs759981467, rs1841212177, rs771210121, rs764824311, rs774559018	RCV005606817 RCV001826148 RCV005606815 RCV001826138 RCV005607050 RCV002267651 RCV001835621 RCV001274889 RCV001831514 RCV001826421 RCV001272891 RCV000215123 RCV001831515 RCV005608784 RCV005608977 RCV001828406 RCV001271848 RCV001834974 RCV001831667 RCV001826574 RCV001274898 RCV001831673 RCV001274911 RCV001831682 RCV001271858 RCV001825507 RCV001276921 RCV001199453 RCV001199649 RCV001825705 RCV005606747 RCV001002923 RCV001004342 RCV001827450 RCV001832538 RCV001832521 RCV001833785 RCV001828631 RCV001836256	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1D	Pathogenic; Likely pathogenic	rs1853882557, rs2132596686, rs2132983724, rs2132929769, rs768834772, rs1841773052, rs773926246, rs780987516, rs2132200416, rs2132760607, rs2132953252, rs2132953243, rs764949139, rs2133002929, rs1841497902, rs757053706, rs757675676, rs773004408, rs2132804878, rs1564791773, rs2494433582, rs373838930, rs1841926049, rs121908347, rs111033270, rs727502931, rs121908349, rs121908350, rs111033271, rs121908351, rs796051861, rs121908354, rs1865609793, rs753886326, rs751788879, rs878853337, rs2493815701, rs1841971198, rs1483001216, rs1865810132, rs2132977459, rs2494022006, rs2494418097, rs1060499714, rs1060499789, rs750803248, rs1064795722, rs756147087, rs750880909, rs1554874900, rs769433759, rs866435331, rs1554857840, rs1554877007, rs397517329, rs397517337, rs1253419936, rs1564796487, rs183431253, rs367928692, rs370983472, rs397517353, rs727502919, rs1564794944, rs747955135, rs745571683, rs762226905, rs1190307769, rs1344509500, rs1200012430, rs1589384283, rs1230303971, rs750027965, rs1278603247, rs771766431, rs754876029, rs1841921374, rs1850169561, rs774559018	RCV005253804 RCV002471100 RCV001374880 RCV005040252 RCV005040244 RCV003448917 RCV005040247 RCV004796638 RCV001544523 RCV001544524 RCV001775041 RCV001775047 RCV003447325 RCV005042470 RCV005042502 RCV005253915 RCV005042687 RCV002248985 RCV002250926 RCV002267651 RCV002290403 RCV001589015 RCV002471733 RCV000005197 RCV000005198 RCV000005200 RCV005041985 RCV000005203 RCV004783719 RCV005229765 RCV000005207 RCV001106128 RCV005045010 RCV005044436 RCV005044468 RCV005044469 RCV005047469 RCV005047570 RCV005047621 RCV005047622 RCV005047763 RCV003990575 RCV005358114 RCV000449554 RCV005044653 RCV001805102 RCV001839004 RCV004796215 RCV005044763 RCV005044764 RCV000611540 RCV001805224 RCV000625802 RCV000625866 RCV000763214 RCV005042114 RCV000678532 RCV000678533 RCV000763216 RCV000763217 RCV002250505 RCV005252712 RCV000710061 RCV000735678 RCV005047013 RCV002470968 RCV005049679 RCV005870840 RCV002493408 RCV005047071 RCV002501059 RCV000855416 RCV002505534 RCV005047197 RCV005047285 RCV005047297 RCV005047298 RCV005040079 RCV005040132	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 2	Pathogenic	rs1841885880	RCV001199452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 2A	Likely pathogenic; Pathogenic	rs111033271	RCV000710063	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
USHER SYNDROME, TYPE ID/F, DIGENIC	Pathogenic	rs796051861	RCV000005208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive nonsyndromic hearing loss 84A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED SAPOSIN DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 12	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED PITUITARY ADENOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Syndromic Hereditary Hearing Impairment	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY-DEPENDENT CUSHINGS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prelingual sensorineural hearing impairment	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa-deafness syndrome	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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 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 IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VATER association	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINAL DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abducens Nerve Palsy	Abducens palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30747484		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocorticotropin deficient adrenal insufficiency	Adrenocorticotropin deficient adrenal insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Alstrom Syndrome	Alstrom Syndrome	BEFREE	29292161		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25129075, 26827652	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	26827652		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27631835		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	37466950	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bartter Syndrome Type 4A	Bartter syndrome	Pubtator	29986705	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral Vestibulopathy	BEFREE	12075507		★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral vestibulopathy	Pubtator	12075507	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22413011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	22413011, 32276436, 33899544	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30747484	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ 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
Ciliopathies	Ciliopathy	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31424985		★☆☆☆☆ Found in Text Mining only
Cushing disease	Pituitary Dependent Hypercortisolism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing`s Syndrome	ORPHANET_DG	28413019		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	22607986, 23967202, 26264712, 28900111, 29568747, 31992338, 32048449, 33095980, 33187236, 33638616, 34335733, 34997062, 35020051, 35062939, 35248088, 36597107, 39287240	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Autosomal Recessive	Deafness	Pubtator	28900111, 29568747	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 12	Deafness	Pubtator	11090341, 27792758, 35020051, 37643494	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	11090341, 31322239		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 12	Deafness	UNIPROT_DG	11090341, 12075507, 12522556, 15829536, 16679490, 17850630, 22899989, 24767429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 12	Deafness	GENOMICS_ENGLAND_DG	11138009, 2706105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 12	Deafness	CLINVAR_DG	12075507, 12522556, 15353998, 17850630, 21940737, 22899989, 23967202, 24618850, 26264712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 12	Deafness	BEFREE	15353998, 26878454, 27792758, 29148562, 29287849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 12	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 84A	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30747484	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial isolated pituitary adenoma	Pituitary adenoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fourth cranial nerve paresis	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	39684270	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	12075507, 15829536, 19888295, 22443853, 22899989, 23770805, 24767429, 25231367, 25963016, 26264712, 30123251, 30535804, 31322239, 32134349, 32842620, 32991204, 33205915, 33270084, 33638616, 34946889, 34997062, 35020051, 35062939, 35248088, 39271758, 39287240, 39596651	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	20146813, 26264712, 27583405, 27792758, 29986705, 35580552, 39287240, 39596651	Associate	★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary retinal dystrophy	Hereditary Retinal Dystrophy	CLINGEN_DG	11090341, 11750125, 12075507, 12407180, 20513143, 21689626		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Atresia Multiple	Multiple intestinal atresia	Pubtator	40624119	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35597916	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36781600	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22413011		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29421162, 30747484, 31729176		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32276436	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11090341, 11138009		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37884635	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28413019, 30747484		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28980068		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	18957941		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	11386759, 12075507, 18429043, 21689626, 26264712, 26878454, 29148562, 30367262, 31247458		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	17850630, 19270079, 19888295, 21940737, 22899989, 27882946		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	33270084, 35020051	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodic hypokalemic paresis	Periodic hypokalemic paresis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28413019		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
PITUITARY ADENOMA 5, MULTIPLE TYPES	Pituitary adenoma	UNIPROT_DG	28413019		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PITUITARY ADENOMA 5, MULTIPLE TYPES	Pituitary adenoma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Adenoma Familial Isolated	Pituitary adenoma	Pubtator	28413019	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	28413019	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary-dependent Cushing`s disease	Pituitary Dependent Hypercortisolism	ORPHANET_DG	28413019		★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	ORPHANET_DG	28413019		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	27631835		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	33507217	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	12075507, 21940737, 26878454		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	12075507		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	12075507, 32795431, 35020051	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary growth hormone deficiency	Growth Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	21689626, 27792758		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30747484		★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Crisis	Thyroid Crisis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyrotroph adenoma	Adenoma	ORPHANET_DG	28413019		★☆☆☆☆ Found in Text Mining only
TSH-secreting pituitary adenoma	TSH-Secreting Pituitary Adenoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	LHGDN	11857743, 16550584, 18429043		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome	Usher Syndrome	BEFREE	12075507, 21940737, 22977299, 25963016, 27631835, 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, 26791358, 31546658	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome type 1D	Usher syndrome	Pubtator	11090341, 16288196, 18429043, 25963016, 33316915, 35020051, 40184886	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome Type ID	Usher syndrome	Pubtator	35020051	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	BEFREE	15353998, 18429043, 20844544		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	GENOMICS_ENGLAND_DG	21689626		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1D	Usher Syndrome	BEFREE	11138009, 11857743, 16288196, 18273900, 18429043, 19756182, 21689626, 21698697, 26878454, 27631835, 29292161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 1D	Usher Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINGEN_DG	11090341, 11750125, 12075507, 12407180, 20513143, 21689626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	BEFREE	15353998, 15537665, 15590703, 15660226, 18429043, 20182609, 20844544, 21940737, 23045546, 26791358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINVAR_DG	15537665, 21569298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	GENOMICS_ENGLAND_DG	21689626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY	Usher Syndrome	CLINGEN_DG	11090341, 11750125, 12075507, 12407180, 20513143, 21689626		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IA, FORMERLY	Usher Syndrome	CLINGEN_DG	11090341, 11750125, 12075507, 12407180, 20513143, 21689626		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	CLINGEN_DG	11090341, 11750125, 12075507, 12407180, 20513143, 21689626		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE ID	Usher Syndrome	UNIPROT_DG	11138009, 12075507, 15537665, 15660226, 16679490, 18429043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE ID	Usher Syndrome	GENOMICS_ENGLAND_DG	11138009, 2706105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE ID	Usher Syndrome	BEFREE	11531971, 11857743, 17850630, 18273900, 18429043, 26878454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE ID	Usher Syndrome	CLINVAR_DG	12075507, 23451239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IIA	Usher Syndrome	CLINVAR_DG	12075507, 12522556, 15353998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndromes	Usher syndrome	Pubtator	12075507, 16679490, 18429043, 24164807, 25211151, 25404053, 25575603, 27583663, 31546658, 34837038, 35580552, 36011334, 39337481, 40184886	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only