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	64699
Gene name	Transmembrane serine protease 3
Gene symbol	TMPRSS3
Synonyms (NCBI Gene)	DFNB10DFNB8ECHOS1TADG12
Chromosome	21
Chromosome location	21q22.3
Summary	This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known t

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939084	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs56264519	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs111033292	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs137852999	C>G	Pathogenic	Missense variant, coding sequence variant
rs137853000	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs139484231	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs139805921	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs147231991	G>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs181949335	C>T	Pathogenic	Missense variant, coding sequence variant
rs200090033	C>T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs201018751	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs201632198	G>A	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs372526764	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs373058706	C>T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs374793617	C>T	Pathogenic	Intron variant
rs387906915	T>C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs397517368	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397517376	->T	Pathogenic	Frameshift variant, coding sequence variant
rs565348874	G>A,C,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs727503493	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs727504304	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1060499811	A>T	Pathogenic	Coding sequence variant, stop gained
rs1237955948	C>A,T	Pathogenic	Splice acceptor variant
rs1429442821	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1601514990	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054791	hsa-miR-204-5p	Luciferase reporter assayWestern blotqRT-PCR	24924414
MIRT439417	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439417	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1441102	hsa-miR-1304	CLIP-seq
MIRT1441103	hsa-miR-1908	CLIP-seq
MIRT1441104	hsa-miR-2467-5p	CLIP-seq
MIRT1441105	hsa-miR-3136-3p	CLIP-seq
MIRT1441106	hsa-miR-3186-5p	CLIP-seq
MIRT1441107	hsa-miR-3188	CLIP-seq
MIRT1441108	hsa-miR-3689a-3p	CLIP-seq
MIRT1441109	hsa-miR-3689c	CLIP-seq
MIRT1441110	hsa-miR-3929	CLIP-seq
MIRT1441111	hsa-miR-3975	CLIP-seq
MIRT1441112	hsa-miR-4269	CLIP-seq
MIRT1441113	hsa-miR-4281	CLIP-seq
MIRT1441114	hsa-miR-4316	CLIP-seq
MIRT1441115	hsa-miR-4318	CLIP-seq
MIRT1441116	hsa-miR-4419b	CLIP-seq
MIRT1441117	hsa-miR-4455	CLIP-seq
MIRT1441118	hsa-miR-4478	CLIP-seq
MIRT1441119	hsa-miR-4641	CLIP-seq
MIRT1441120	hsa-miR-4648	CLIP-seq
MIRT1441121	hsa-miR-4654	CLIP-seq
MIRT1441122	hsa-miR-4728-5p	CLIP-seq
MIRT1441123	hsa-miR-4769-5p	CLIP-seq
MIRT1441124	hsa-miR-485-5p	CLIP-seq
MIRT1441125	hsa-miR-579	CLIP-seq
MIRT1441126	hsa-miR-663	CLIP-seq
MIRT1441127	hsa-miR-663b	CLIP-seq
MIRT1441128	hsa-miR-3200-5p	CLIP-seq
MIRT1441129	hsa-miR-3660	CLIP-seq
MIRT1441130	hsa-miR-3673	CLIP-seq
MIRT1441131	hsa-miR-4477a	CLIP-seq
MIRT1441132	hsa-miR-4526	CLIP-seq
MIRT1441133	hsa-miR-571	CLIP-seq
MIRT1441134	hsa-miR-889	CLIP-seq
MIRT1441135	hsa-miR-944	CLIP-seq
MIRT2132069	hsa-miR-1285	CLIP-seq
MIRT2132070	hsa-miR-2278	CLIP-seq
MIRT2132071	hsa-miR-3187-5p	CLIP-seq
MIRT2132072	hsa-miR-371-5p	CLIP-seq
MIRT2132073	hsa-miR-371b-5p	CLIP-seq
MIRT2132074	hsa-miR-3926	CLIP-seq
MIRT2132075	hsa-miR-4252	CLIP-seq
MIRT2132076	hsa-miR-4675	CLIP-seq
MIRT2132077	hsa-miR-4741	CLIP-seq
MIRT2132078	hsa-miR-4793-3p	CLIP-seq
MIRT2132079	hsa-miR-508-5p	CLIP-seq
MIRT2132080	hsa-miR-548s	CLIP-seq
MIRT2132081	hsa-miR-612	CLIP-seq
MIRT2132082	hsa-miR-661	CLIP-seq
MIRT2132083	hsa-miR-766	CLIP-seq
MIRT2353178	hsa-miR-369-3p	CLIP-seq
MIRT2396080	hsa-miR-1827	CLIP-seq
MIRT2396081	hsa-miR-2110	CLIP-seq
MIRT2396082	hsa-miR-4271	CLIP-seq
MIRT1441113	hsa-miR-4281	CLIP-seq
MIRT2396083	hsa-miR-4649-3p	CLIP-seq
MIRT2396084	hsa-miR-4667-5p	CLIP-seq
MIRT2396085	hsa-miR-4700-5p	CLIP-seq
MIRT2396086	hsa-miR-4725-3p	CLIP-seq
MIRT2462001	hsa-miR-10a	CLIP-seq
MIRT2462002	hsa-miR-10b	CLIP-seq
MIRT2462003	hsa-miR-1262	CLIP-seq
MIRT1441103	hsa-miR-1908	CLIP-seq
MIRT2462004	hsa-miR-339-5p	CLIP-seq
MIRT2462005	hsa-miR-3613-3p	CLIP-seq
MIRT2132072	hsa-miR-371-5p	CLIP-seq
MIRT2132073	hsa-miR-371b-5p	CLIP-seq
MIRT2462006	hsa-miR-4259	CLIP-seq
MIRT2462007	hsa-miR-4421	CLIP-seq
MIRT1441117	hsa-miR-4455	CLIP-seq
MIRT2462008	hsa-miR-4684-5p	CLIP-seq
MIRT2462009	hsa-miR-4701-3p	CLIP-seq
MIRT2462010	hsa-miR-4715-5p	CLIP-seq
MIRT2462011	hsa-miR-548c-3p	CLIP-seq
MIRT2462012	hsa-miR-593	CLIP-seq
MIRT2462013	hsa-miR-609	CLIP-seq
MIRT1441126	hsa-miR-663	CLIP-seq
MIRT2462001	hsa-miR-10a	CLIP-seq
MIRT2462002	hsa-miR-10b	CLIP-seq
MIRT2462003	hsa-miR-1262	CLIP-seq
MIRT2132069	hsa-miR-1285	CLIP-seq
MIRT1441103	hsa-miR-1908	CLIP-seq
MIRT2132071	hsa-miR-3187-5p	CLIP-seq
MIRT2462004	hsa-miR-339-5p	CLIP-seq
MIRT2462005	hsa-miR-3613-3p	CLIP-seq
MIRT1441108	hsa-miR-3689a-3p	CLIP-seq
MIRT1441109	hsa-miR-3689c	CLIP-seq
MIRT2132072	hsa-miR-371-5p	CLIP-seq
MIRT2132073	hsa-miR-371b-5p	CLIP-seq
MIRT1441110	hsa-miR-3929	CLIP-seq
MIRT2132075	hsa-miR-4252	CLIP-seq
MIRT2462006	hsa-miR-4259	CLIP-seq
MIRT1441113	hsa-miR-4281	CLIP-seq
MIRT1441115	hsa-miR-4318	CLIP-seq
MIRT1441116	hsa-miR-4419b	CLIP-seq
MIRT2462007	hsa-miR-4421	CLIP-seq
MIRT1441117	hsa-miR-4455	CLIP-seq
MIRT1441118	hsa-miR-4478	CLIP-seq
MIRT1441120	hsa-miR-4648	CLIP-seq
MIRT1441121	hsa-miR-4654	CLIP-seq
MIRT2462008	hsa-miR-4684-5p	CLIP-seq
MIRT2462009	hsa-miR-4701-3p	CLIP-seq
MIRT2462010	hsa-miR-4715-5p	CLIP-seq
MIRT1441122	hsa-miR-4728-5p	CLIP-seq
MIRT1441123	hsa-miR-4769-5p	CLIP-seq
MIRT2132078	hsa-miR-4793-3p	CLIP-seq
MIRT1441124	hsa-miR-485-5p	CLIP-seq
MIRT2132079	hsa-miR-508-5p	CLIP-seq
MIRT2462011	hsa-miR-548c-3p	CLIP-seq
MIRT2462012	hsa-miR-593	CLIP-seq
MIRT2462013	hsa-miR-609	CLIP-seq
MIRT2132081	hsa-miR-612	CLIP-seq
MIRT2132082	hsa-miR-661	CLIP-seq
MIRT1441126	hsa-miR-663	CLIP-seq
MIRT2132083	hsa-miR-766	CLIP-seq
MIRT2462003	hsa-miR-1262	CLIP-seq
MIRT2132069	hsa-miR-1285	CLIP-seq
MIRT1441103	hsa-miR-1908	CLIP-seq
MIRT2132071	hsa-miR-3187-5p	CLIP-seq
MIRT2462004	hsa-miR-339-5p	CLIP-seq
MIRT2462005	hsa-miR-3613-3p	CLIP-seq
MIRT1441108	hsa-miR-3689a-3p	CLIP-seq
MIRT1441109	hsa-miR-3689c	CLIP-seq
MIRT2132072	hsa-miR-371-5p	CLIP-seq
MIRT2132073	hsa-miR-371b-5p	CLIP-seq
MIRT1441110	hsa-miR-3929	CLIP-seq
MIRT2132075	hsa-miR-4252	CLIP-seq
MIRT2462006	hsa-miR-4259	CLIP-seq
MIRT1441113	hsa-miR-4281	CLIP-seq
MIRT1441115	hsa-miR-4318	CLIP-seq
MIRT1441116	hsa-miR-4419b	CLIP-seq
MIRT2462007	hsa-miR-4421	CLIP-seq
MIRT1441117	hsa-miR-4455	CLIP-seq
MIRT1441118	hsa-miR-4478	CLIP-seq
MIRT1441120	hsa-miR-4648	CLIP-seq
MIRT1441121	hsa-miR-4654	CLIP-seq
MIRT2462008	hsa-miR-4684-5p	CLIP-seq
MIRT2462009	hsa-miR-4701-3p	CLIP-seq
MIRT2462010	hsa-miR-4715-5p	CLIP-seq
MIRT1441122	hsa-miR-4728-5p	CLIP-seq
MIRT1441123	hsa-miR-4769-5p	CLIP-seq
MIRT2132078	hsa-miR-4793-3p	CLIP-seq
MIRT1441124	hsa-miR-485-5p	CLIP-seq
MIRT2132079	hsa-miR-508-5p	CLIP-seq
MIRT2462011	hsa-miR-548c-3p	CLIP-seq
MIRT2462012	hsa-miR-593	CLIP-seq
MIRT2462013	hsa-miR-609	CLIP-seq
MIRT2132081	hsa-miR-612	CLIP-seq
MIRT2132082	hsa-miR-661	CLIP-seq
MIRT1441126	hsa-miR-663	CLIP-seq
MIRT2132083	hsa-miR-766	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	NAS	11068177, 11137999
GO:0005783	Component	Endoplasmic reticulum	HDA	16780588
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12393794, 17918732
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	NAS	11068177
GO:0006883	Process	Intracellular sodium ion homeostasis	IDA	12393794
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11068177, 11137999
GO:0016787	Function	Hydrolase activity	IEA
GO:0017080	Function	Sodium channel regulator activity	IDA	12393794
GO:0043025	Component	Neuronal cell body	IEA

MIM	HGNC	e!Ensembl
605511	11877	ENSG00000160183

P57727

Protein name

Transmembrane protease serine 3 (EC 3.4.21.-) (Serine protease TADG-12) (Tumor-associated differentially-expressed gene 12 protein)

Protein function

Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00057	Ldl_recept_a	72 → 107	Low-density lipoprotein receptor domain class A	Repeat
PF15494	SRCR_2	112 → 211	Scavenger receptor cysteine-rich domain	Domain
PF00089	Trypsin	217 → 444	Trypsin	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.

Sequence

MGENDPPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALI
LALAIGLGIHFDCSGKYRCRSSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVF
TAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSSLEGQFREEFVSIDHLLPDDK
VTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYH
LCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKR
LGNDIALMKLAGPLTFNEMIQPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHA
AVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATS
FGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT

Sequence length

454

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 (9)

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 8	Pathogenic; Likely pathogenic	rs2146436212, rs145913750, rs2052672053, rs2146452391, rs976363536, rs768140716, rs727504304, rs372526764, rs727503493, rs1374533426, rs748150602, rs1016968797, rs137852999, rs28939084, rs137853000 View all (28 more)	RCV001806228 RCV001806227 RCV001806226 RCV001823263 RCV002283552 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood onset hearing loss	Likely pathogenic; Pathogenic	rs374793617	RCV001328013	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs28939084	RCV001813955	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs2146430688, rs727503493, rs137852999, rs139805921, rs397517376, rs374793617, rs147231991, rs181949335	RCV001375378 RCV001375379 RCV001375182 RCV001375183 RCV001375133 RCV001375193 RCV001375181 RCV001375145 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal recessive	Pathogenic; Likely pathogenic	rs145913750, rs374793617, rs1237955948, rs773780151, rs1306292205, rs1333651774, rs199903164	RCV004719042 RCV001291485 RCV001291488 RCV001291489 RCV001291487 RCV001291486 RCV001291484 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs56264519, rs1333651774	RCV006261946 RCV006258504	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs757110501, rs727503493, rs56264519, rs147231991	RCV001544535 RCV003993831 RCV001544534 RCV003993760	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727504304, rs372526764, rs727503493, rs397517376, rs373058706, rs397517368, rs56264519, rs374793617, rs201632198, rs147231991, rs137853000, rs181949335	RCV000154351 RCV000155297 RCV000152065 RCV000039360 RCV000607617 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TMPRSS3-related disorder	Likely pathogenic; Pathogenic	rs372526764, rs727503493, rs1286616401, rs139805921, rs56264519, rs374793617, rs147231991	RCV003407579 RCV004754318 RCV004754932 RCV003401420 RCV004754285 RCV004754286 RCV004754287 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

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.
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 8	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ 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
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	28566687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome, type 1	Autoimmune Polyendocrinopathy	BEFREE	9325172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25029565, 26014348, 28260080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25029565, 25298020, 26014348, 26191247	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11068177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19117353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15361711, 19117353, 22446619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	15447792, 19170735, 22975204, 23226338, 24949729, 27573290, 28246597, 28566687, 28695016, 29072634, 29434063, 30242206, 35062939, 37023310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	8651303	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	15447792, 17551081, 28695016, 8651303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	11462234, 12393794, 17981648, 21454591, 29460002, 9325172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 16	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 9	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	Deafness	UNIPROT_DG	11424922, 11462234, 11907649, 12393794, 15447792, 16021470		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	Deafness	CLINVAR_DG	11907649, 15447792, 16283880, 17551081, 19170735, 21534946, 21786053, 22975204, 23958653, 24526180, 26036852, 28246597		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	Deafness	GENOMICS_ENGLAND_DG	23255163		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19117353, 22446619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30443974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	15447792, 16460646, 17551081, 19888295, 21786053, 27573290, 28246597, 28695016, 29293505, 30242206, 31016883, 31412945, 31835641, 32682410, 32842620 View all (8 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	20146813, 27583405, 31016883, 31835641, 38102706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	12393794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26191247	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25029565, 26014348, 28260080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15361711, 19117353, 22446619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10825129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30142546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10825129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12920079, 17981648, 21786053, 26036852, 26408194, 28263784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28409556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11068177, 28409556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	12529709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	10950923, 11907649, 12529709, 19170735, 23958653, 24526180, 26036852, 31016883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11137999, 11907649, 12393794, 21454591, 23255163, 25474651, 26036852, 28695016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	15361711, 19117353		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15361711, 19117353, 22446619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11068177, 15361711, 19117353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10825129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	9325172, 9465297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11462234, 31408246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30142546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	19170735		★★★★★ ★☆☆☆☆ Found in Text Mining only

TMPRSS3 (transmembrane serine protease 3)