Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

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

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
PF12796	Ank_2	6 → 101	Ankyrin repeats (3 copies)	Repeat
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
PF02205	WH2	648 → 675	WH2 motif	Family

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	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.
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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

ESPN (espin)