Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	83715
Gene name	Espin
Gene symbol	ESPN
Synonyms (NCBI Gene)	DFNB36LP2654USH1M
Chromosome	1
Chromosome location	1p36.31
Summary	This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction

13 Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908134	A>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908135	G>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908136	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs752649606	G>A,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs754472294	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1220317427	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1485674839	G>C,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs1557690051	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1557720377	GGCGGGACCTCCTGCGGA>-	Pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1569712066	->G	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1569726455	AGAG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569770998	TCAG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569771486	AAG>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, inframe deletion

128 Show/Hide all (128)

miRTarBase ID	miRNA	Experiments
MIRT970253	hsa-miR-1295	CLIP-seq
MIRT970254	hsa-miR-1324	CLIP-seq
MIRT970255	hsa-miR-1538	CLIP-seq
MIRT970256	hsa-miR-1908	CLIP-seq
MIRT970257	hsa-miR-2682	CLIP-seq
MIRT970258	hsa-miR-2861	CLIP-seq
MIRT970259	hsa-miR-296-5p	CLIP-seq
MIRT970260	hsa-miR-3064-5p	CLIP-seq
MIRT970261	hsa-miR-3125	CLIP-seq
MIRT970262	hsa-miR-3127-3p	CLIP-seq
MIRT970263	hsa-miR-3136-5p	CLIP-seq
MIRT970264	hsa-miR-3180	CLIP-seq
MIRT970265	hsa-miR-3180-3p	CLIP-seq
MIRT970266	hsa-miR-3196	CLIP-seq
MIRT970267	hsa-miR-3202	CLIP-seq
MIRT970268	hsa-miR-3652	CLIP-seq
MIRT970269	hsa-miR-3692	CLIP-seq
MIRT970270	hsa-miR-3916	CLIP-seq
MIRT970271	hsa-miR-3918	CLIP-seq
MIRT970272	hsa-miR-3919	CLIP-seq
MIRT970273	hsa-miR-4257	CLIP-seq
MIRT970274	hsa-miR-4281	CLIP-seq
MIRT970275	hsa-miR-4283	CLIP-seq
MIRT970276	hsa-miR-4328	CLIP-seq
MIRT970277	hsa-miR-4430	CLIP-seq
MIRT970278	hsa-miR-4439	CLIP-seq
MIRT970279	hsa-miR-4449	CLIP-seq
MIRT970280	hsa-miR-4476	CLIP-seq
MIRT970281	hsa-miR-4489	CLIP-seq
MIRT970282	hsa-miR-4492	CLIP-seq
MIRT970283	hsa-miR-4496	CLIP-seq
MIRT970284	hsa-miR-4498	CLIP-seq
MIRT970285	hsa-miR-449c	CLIP-seq
MIRT970286	hsa-miR-4505	CLIP-seq
MIRT970287	hsa-miR-4512	CLIP-seq
MIRT970288	hsa-miR-4513	CLIP-seq
MIRT970289	hsa-miR-4514	CLIP-seq
MIRT970290	hsa-miR-4532	CLIP-seq
MIRT970291	hsa-miR-4668-5p	CLIP-seq
MIRT970292	hsa-miR-4685-5p	CLIP-seq
MIRT970293	hsa-miR-4692	CLIP-seq
MIRT970294	hsa-miR-4706	CLIP-seq
MIRT970295	hsa-miR-4730	CLIP-seq
MIRT970296	hsa-miR-4731-5p	CLIP-seq
MIRT970297	hsa-miR-4733-3p	CLIP-seq
MIRT970298	hsa-miR-4745-3p	CLIP-seq
MIRT970299	hsa-miR-4747-3p	CLIP-seq
MIRT970300	hsa-miR-4749-5p	CLIP-seq
MIRT970301	hsa-miR-4756-3p	CLIP-seq
MIRT970302	hsa-miR-4758-3p	CLIP-seq
MIRT970303	hsa-miR-542-5p	CLIP-seq
MIRT970304	hsa-miR-615-5p	CLIP-seq
MIRT970305	hsa-miR-658	CLIP-seq
MIRT970306	hsa-miR-663	CLIP-seq
MIRT970307	hsa-miR-762	CLIP-seq
MIRT1987542	hsa-miR-147b	CLIP-seq
MIRT970256	hsa-miR-1908	CLIP-seq
MIRT1987543	hsa-miR-214	CLIP-seq
MIRT970261	hsa-miR-3125	CLIP-seq
MIRT970263	hsa-miR-3136-5p	CLIP-seq
MIRT1987544	hsa-miR-342-5p	CLIP-seq
MIRT1987545	hsa-miR-3619-5p	CLIP-seq
MIRT970270	hsa-miR-3916	CLIP-seq
MIRT970272	hsa-miR-3919	CLIP-seq
MIRT1987546	hsa-miR-4291	CLIP-seq
MIRT970278	hsa-miR-4439	CLIP-seq
MIRT1987547	hsa-miR-4446-3p	CLIP-seq
MIRT1987548	hsa-miR-4453	CLIP-seq
MIRT1987549	hsa-miR-4459	CLIP-seq
MIRT1987550	hsa-miR-4466	CLIP-seq
MIRT970283	hsa-miR-4496	CLIP-seq
MIRT1987551	hsa-miR-4497	CLIP-seq
MIRT970288	hsa-miR-4513	CLIP-seq
MIRT1987552	hsa-miR-4538	CLIP-seq
MIRT1987553	hsa-miR-4664-5p	CLIP-seq
MIRT1987554	hsa-miR-4675	CLIP-seq
MIRT970294	hsa-miR-4706	CLIP-seq
MIRT1987555	hsa-miR-4721	CLIP-seq
MIRT1987556	hsa-miR-4722-5p	CLIP-seq
MIRT1987557	hsa-miR-4723-5p	CLIP-seq
MIRT1987558	hsa-miR-4728-5p	CLIP-seq
MIRT970295	hsa-miR-4730	CLIP-seq
MIRT970296	hsa-miR-4731-5p	CLIP-seq
MIRT1987559	hsa-miR-4741	CLIP-seq
MIRT970300	hsa-miR-4749-5p	CLIP-seq
MIRT970301	hsa-miR-4756-3p	CLIP-seq
MIRT1987560	hsa-miR-4779	CLIP-seq
MIRT970303	hsa-miR-542-5p	CLIP-seq
MIRT1987561	hsa-miR-635	CLIP-seq
MIRT1987562	hsa-miR-646	CLIP-seq
MIRT970306	hsa-miR-663	CLIP-seq
MIRT1987563	hsa-miR-675	CLIP-seq
MIRT1987564	hsa-miR-744	CLIP-seq
MIRT1987565	hsa-miR-761	CLIP-seq
MIRT1987566	hsa-miR-922	CLIP-seq
MIRT2221975	hsa-miR-103a	CLIP-seq
MIRT2221976	hsa-miR-107	CLIP-seq
MIRT2221977	hsa-miR-1270	CLIP-seq
MIRT2221978	hsa-miR-1285	CLIP-seq
MIRT970259	hsa-miR-296-5p	CLIP-seq
MIRT2221979	hsa-miR-3127-5p	CLIP-seq
MIRT2221980	hsa-miR-3187-5p	CLIP-seq
MIRT1987544	hsa-miR-342-5p	CLIP-seq
MIRT2221981	hsa-miR-34a	CLIP-seq
MIRT2221982	hsa-miR-34c-5p	CLIP-seq
MIRT2221983	hsa-miR-378g	CLIP-seq
MIRT970271	hsa-miR-3918	CLIP-seq
MIRT2221984	hsa-miR-3944-5p	CLIP-seq
MIRT2221985	hsa-miR-4314	CLIP-seq
MIRT2221986	hsa-miR-4467	CLIP-seq
MIRT2221987	hsa-miR-4486	CLIP-seq
MIRT2221988	hsa-miR-449a	CLIP-seq
MIRT2221989	hsa-miR-449b	CLIP-seq
MIRT2221990	hsa-miR-4531	CLIP-seq
MIRT2221991	hsa-miR-4655-5p	CLIP-seq
MIRT1987553	hsa-miR-4664-5p	CLIP-seq
MIRT970294	hsa-miR-4706	CLIP-seq
MIRT1987558	hsa-miR-4728-5p	CLIP-seq
MIRT2221992	hsa-miR-4749-3p	CLIP-seq
MIRT970300	hsa-miR-4749-5p	CLIP-seq
MIRT2221993	hsa-miR-4793-5p	CLIP-seq
MIRT2221994	hsa-miR-483-3p	CLIP-seq
MIRT2221995	hsa-miR-486-3p	CLIP-seq
MIRT2221996	hsa-miR-508-5p	CLIP-seq
MIRT2221997	hsa-miR-612	CLIP-seq
MIRT2221998	hsa-miR-620	CLIP-seq
MIRT2387541	hsa-miR-4508	CLIP-seq
MIRT970296	hsa-miR-4731-5p	CLIP-seq

21 Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005902	Component	Microvillus	IDA	29572253
GO:0005902	Component	Microvillus	IEA
GO:0005903	Component	Brush border	ISS	9763424
GO:0007605	Process	Sensory perception of sound	IEA
GO:0017124	Function	SH3 domain binding	ISS	12598619
GO:0030034	Process	Microvillar actin bundle assembly	IMP	29572253
GO:0031941	Component	Filamentous actin	ISS	8799813
GO:0032420	Component	Stereocilium	IDA	29572253
GO:0032420	Component	Stereocilium	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043226	Component	Organelle	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	ISS	8799813
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0098858	Component	Actin-based cell projection	IEA
GO:0098862	Component	Cluster of actin-based cell projections	IEA

MIM	HGNC	e!Ensembl
606351	13281	ENSG00000187017

B1AK53

Protein name

Espin (Autosomal recessive deafness type 36 protein) (Ectoplasmic specialization protein)

Protein function

Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells (PubMed:29572253). Require

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02205	WH2	648 → 675	WH2 motif	Family
PF12796	Ank_2	108 → 203	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	142 → 237	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	195 → 271	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	6 → 101	Ankyrin repeats (3 copies)	Repeat

Sequence

MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAA
LPAAARARNGATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVV
NWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLAC
QEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDG
ATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAAENGELECCQILVVNGAELDV
RDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMSSPNTT
VSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGL
PRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHV
ETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHS
EEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPP
PPPPPLPEAASSPPPAPPLPLESAGPGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIK
AGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPLLNGSL
VPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEE
ARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPW
QRQVILKKGDIAKY

Sequence length

854

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (7)
Autosomal recessive nonsyndromic hearing loss 36	Pathogenic; Likely pathogenic	rs2148538836, rs1644131579, rs1569770998, rs1569726455, rs1569771486, rs1643945526, rs1046987961, rs2522884028, rs752649606, rs754472294, rs1485674839, rs1643944047	RCV001728006 RCV001808246 RCV000004668 RCV000004669 RCV003332997 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness, autosomal recessive 36, without vestibular involvement	Pathogenic	rs1569712066	RCV000004674	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, without vestibular involvement, autosomal dominant	Pathogenic; Likely pathogenic	rs121908134, rs121908136, rs1569771486	RCV000004670 RCV000004672 RCV000004673	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs754472294	RCV001291325	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic	rs2522812173, rs2522706561	RCV004018183 RCV004018215	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1	Pathogenic	rs1557720377	RCV000680222	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome, type 1M	Pathogenic	rs1557720377	RCV000853554	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (24)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	15286153, 15930085	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT	—	Disgenet, HPO Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT,DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT,	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESPN-related disorder	Likely benign; Benign; 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
HEARING LOSS	—	GWAS catalog	34847940	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	31604244	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I	—	Disgenet	29572253	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESTIBULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	15286153	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (30)
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	21937999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	21937999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral Vestibulopathy	BEFREE	15286153, 29572253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral Vestibulopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32412047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30859187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	15286153, 15930085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	20505086	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Acquired	Deafness	CTD_human_DG	15286153, 15930085		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	15286153		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT	Deafness With Or Without Vestibular Involvement	CLINVAR_DG	15286153, 15930085, 9763424		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT	Deafness With Or Without Vestibular Involvement	UNIPROT_DG	15286153, 15930085, 28281779		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT	Deafness With Or Without Vestibular Involvement	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	31677115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30825259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30859187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	24337068		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24337068, 29385671, 30618491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	30825259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	10975527, 15286153, 15930085, 16206170, 18973245, 19287378, 22048959, 26445815, 26886463, 27573290, 28281779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	13680526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	15286153, 15930085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30618491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	22048959, 31638198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher syndrome type 1	Usher Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher Syndrome, Type I	Usher Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type II	Usher Syndrome	BEFREE	22048959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular Diseases	CTD_human_DG	15286153		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
USH1C	7	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Optic atrophy","Deafness","Hereditary hearing loss","Usher syndrome","nonsyndromic genetic hearing loss"]	[]	16	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","Disgenet (Optic atrophy)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinVar (Hereditary hearing loss)","Disgenet (Usher syndrome)"]
OTOA	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","Usher syndrome","nonsyndromic genetic hearing loss"]	[]	11	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinVar (Hereditary hearing loss)","Disgenet (Usher syndrome)","ClinGen (nonsyndromic genetic hearing loss)"]
CIB2	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Usher syndrome","nonsyndromic genetic hearing loss"]	[]	13	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","Disgenet (Usher syndrome)","Orphanet (Usher syndrome)","ClinVar (Usher syndrome)","HPO (Usher syndrome)"]
ESRRB	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	11	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
MARVELD2	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	11	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

ESPN (espin)

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