Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	222662
Gene name	LHFPL tetraspan subfamily member 5
Gene symbol	LHFPL5
Synonyms (NCBI Gene)	DFNB67TMHSdJ510O8.8
Chromosome	6
Chromosome location	6p21.31
Summary	This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in m

8 Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893975	A>G	Pathogenic	Coding sequence variant, missense variant
rs104893976	C>T	Pathogenic	Coding sequence variant, missense variant
rs756030149	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs762876554	G>T	Pathogenic	Missense variant, coding sequence variant
rs779841884	C>-	Pathogenic	Stop gained, coding sequence variant
rs1060499810	A>G	Pathogenic	Initiator codon variant, missense variant
rs1554147220	T>C	Pathogenic	Missense variant, coding sequence variant
rs1581972457	G>-	Pathogenic	Coding sequence variant, splice donor variant

242 Show/Hide all (242)

miRTarBase ID	miRNA	Experiments	Reference
MIRT541986	hsa-miR-3146	HITS-CLIP	21572407
MIRT541985	hsa-miR-675-3p	HITS-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504314	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT504307	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT504313	hsa-miR-567	HITS-CLIP	21572407
MIRT504312	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT504310	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504308	hsa-miR-3924	HITS-CLIP	21572407
MIRT504309	hsa-miR-297	HITS-CLIP	21572407
MIRT541986	hsa-miR-3146	HITS-CLIP	23706177
MIRT541985	hsa-miR-675-3p	HITS-CLIP	23706177
MIRT504315	hsa-miR-5011-5p	HITS-CLIP	23706177
MIRT504314	hsa-miR-511-3p	HITS-CLIP	23706177
MIRT504313	hsa-miR-567	HITS-CLIP	23706177
MIRT504312	hsa-miR-223-5p	HITS-CLIP	23706177
MIRT504311	hsa-miR-6867-5p	HITS-CLIP	23706177
MIRT504310	hsa-miR-190a-3p	HITS-CLIP	23706177
MIRT504308	hsa-miR-3924	HITS-CLIP	23706177
MIRT504309	hsa-miR-297	HITS-CLIP	23706177
MIRT504307	hsa-miR-574-5p	HITS-CLIP	23706177
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT504314	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT504313	hsa-miR-567	PAR-CLIP	20371350
MIRT504312	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT504309	hsa-miR-297	PAR-CLIP	20371350
MIRT504307	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT541986	hsa-miR-3146	PAR-CLIP	21572407
MIRT541985	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504314	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT550921	hsa-miR-4693-3p	PAR-CLIP	21572407
MIRT504307	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT504313	hsa-miR-567	PAR-CLIP	21572407
MIRT504312	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504308	hsa-miR-3924	PAR-CLIP	21572407
MIRT504309	hsa-miR-297	PAR-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504314	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504312	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504307	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT541986	hsa-miR-3146	PAR-CLIP	21572407
MIRT541985	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504314	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504313	hsa-miR-567	PAR-CLIP	21572407
MIRT504312	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504308	hsa-miR-3924	PAR-CLIP	21572407
MIRT504309	hsa-miR-297	PAR-CLIP	21572407
MIRT504307	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504314	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504313	hsa-miR-567	PAR-CLIP	23446348
MIRT504312	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504308	hsa-miR-3924	PAR-CLIP	23446348
MIRT504309	hsa-miR-297	PAR-CLIP	23446348
MIRT504307	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504314	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504313	hsa-miR-567	PAR-CLIP	23446348
MIRT504312	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504308	hsa-miR-3924	PAR-CLIP	23446348
MIRT504309	hsa-miR-297	PAR-CLIP	23446348
MIRT504307	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT504310	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT504310	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT504312	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT504312	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT550921	hsa-miR-4693-3p	HITS-CLIP	27418678
MIRT504315	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT504315	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT504314	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT504307	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT504311	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT504311	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT541986	hsa-miR-3146	HITS-CLIP	21572407
MIRT541985	hsa-miR-675-3p	HITS-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504314	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT504307	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT504313	hsa-miR-567	HITS-CLIP	21572407
MIRT504312	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT504310	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504308	hsa-miR-3924	HITS-CLIP	21572407
MIRT504309	hsa-miR-297	HITS-CLIP	21572407
MIRT541986	hsa-miR-3146	HITS-CLIP	23706177
MIRT541985	hsa-miR-675-3p	HITS-CLIP	23706177
MIRT504315	hsa-miR-5011-5p	HITS-CLIP	23706177
MIRT504314	hsa-miR-511-3p	HITS-CLIP	23706177
MIRT504313	hsa-miR-567	HITS-CLIP	23706177
MIRT504312	hsa-miR-223-5p	HITS-CLIP	23706177
MIRT504311	hsa-miR-6867-5p	HITS-CLIP	23706177
MIRT504310	hsa-miR-190a-3p	HITS-CLIP	23706177
MIRT504308	hsa-miR-3924	HITS-CLIP	23706177
MIRT504309	hsa-miR-297	HITS-CLIP	23706177
MIRT504307	hsa-miR-574-5p	HITS-CLIP	23706177
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT504314	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT504313	hsa-miR-567	PAR-CLIP	20371350
MIRT504312	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT504309	hsa-miR-297	PAR-CLIP	20371350
MIRT504307	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT541986	hsa-miR-3146	PAR-CLIP	21572407
MIRT541985	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504314	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT550921	hsa-miR-4693-3p	PAR-CLIP	21572407
MIRT504307	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT504313	hsa-miR-567	PAR-CLIP	21572407
MIRT504312	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504308	hsa-miR-3924	PAR-CLIP	21572407
MIRT504309	hsa-miR-297	PAR-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504314	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504312	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504307	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT541986	hsa-miR-3146	PAR-CLIP	21572407
MIRT541985	hsa-miR-675-3p	PAR-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504314	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504313	hsa-miR-567	PAR-CLIP	21572407
MIRT504312	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504308	hsa-miR-3924	PAR-CLIP	21572407
MIRT504309	hsa-miR-297	PAR-CLIP	21572407
MIRT504307	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504314	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504313	hsa-miR-567	PAR-CLIP	23446348
MIRT504312	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504308	hsa-miR-3924	PAR-CLIP	23446348
MIRT504309	hsa-miR-297	PAR-CLIP	23446348
MIRT504307	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT504315	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504314	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504313	hsa-miR-567	PAR-CLIP	23446348
MIRT504312	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504311	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504310	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504308	hsa-miR-3924	PAR-CLIP	23446348
MIRT504309	hsa-miR-297	PAR-CLIP	23446348
MIRT504307	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT1108867	hsa-miR-1179	CLIP-seq
MIRT1108868	hsa-miR-1324	CLIP-seq
MIRT1108869	hsa-miR-143	CLIP-seq
MIRT1108870	hsa-miR-3192	CLIP-seq
MIRT1108871	hsa-miR-331-5p	CLIP-seq
MIRT1108872	hsa-miR-361-5p	CLIP-seq
MIRT1108873	hsa-miR-3616-5p	CLIP-seq
MIRT1108874	hsa-miR-3647-5p	CLIP-seq
MIRT1108875	hsa-miR-3661	CLIP-seq
MIRT1108876	hsa-miR-3689a-3p	CLIP-seq
MIRT1108877	hsa-miR-3689c	CLIP-seq
MIRT1108878	hsa-miR-376c	CLIP-seq
MIRT1108879	hsa-miR-4265	CLIP-seq
MIRT1108880	hsa-miR-4277	CLIP-seq
MIRT1108881	hsa-miR-4296	CLIP-seq
MIRT1108882	hsa-miR-4302	CLIP-seq
MIRT1108883	hsa-miR-4322	CLIP-seq
MIRT1108884	hsa-miR-4417	CLIP-seq
MIRT1108885	hsa-miR-4418	CLIP-seq
MIRT1108886	hsa-miR-4496	CLIP-seq
MIRT1108887	hsa-miR-4676-5p	CLIP-seq
MIRT1108888	hsa-miR-4678	CLIP-seq
MIRT1108889	hsa-miR-4697-3p	CLIP-seq
MIRT1108890	hsa-miR-4700-3p	CLIP-seq
MIRT1108891	hsa-miR-4728-5p	CLIP-seq
MIRT1108892	hsa-miR-4770	CLIP-seq
MIRT1108893	hsa-miR-4795-5p	CLIP-seq
MIRT1108894	hsa-miR-509-3-5p	CLIP-seq
MIRT1108895	hsa-miR-509-5p	CLIP-seq
MIRT1108896	hsa-miR-518d-5p	CLIP-seq
MIRT1108897	hsa-miR-519b-5p	CLIP-seq
MIRT1108898	hsa-miR-519c-5p	CLIP-seq
MIRT1108899	hsa-miR-520c-5p	CLIP-seq
MIRT1108900	hsa-miR-526a	CLIP-seq
MIRT1108901	hsa-miR-548a-5p	CLIP-seq
MIRT1108902	hsa-miR-548ab	CLIP-seq
MIRT1108903	hsa-miR-548ak	CLIP-seq
MIRT1108904	hsa-miR-548b-5p	CLIP-seq
MIRT1108905	hsa-miR-548c-5p	CLIP-seq
MIRT1108906	hsa-miR-548d-5p	CLIP-seq
MIRT1108907	hsa-miR-548h	CLIP-seq
MIRT1108908	hsa-miR-548i	CLIP-seq
MIRT1108909	hsa-miR-548j	CLIP-seq
MIRT1108910	hsa-miR-548k	CLIP-seq
MIRT1108911	hsa-miR-548l	CLIP-seq
MIRT1108912	hsa-miR-548w	CLIP-seq
MIRT1108913	hsa-miR-548y	CLIP-seq
MIRT1108914	hsa-miR-559	CLIP-seq
MIRT1108915	hsa-miR-563	CLIP-seq
MIRT1108916	hsa-miR-573	CLIP-seq
MIRT1108917	hsa-miR-575	CLIP-seq
MIRT1108918	hsa-miR-627	CLIP-seq
MIRT1108919	hsa-miR-631	CLIP-seq
MIRT1108920	hsa-miR-7	CLIP-seq
MIRT1108921	hsa-miR-873	CLIP-seq
MIRT1108922	hsa-miR-890	CLIP-seq
MIRT1108867	hsa-miR-1179	CLIP-seq
MIRT1108871	hsa-miR-331-5p	CLIP-seq
MIRT1108878	hsa-miR-376c	CLIP-seq
MIRT1108888	hsa-miR-4678	CLIP-seq
MIRT1108896	hsa-miR-518d-5p	CLIP-seq
MIRT1108897	hsa-miR-519b-5p	CLIP-seq
MIRT1108898	hsa-miR-519c-5p	CLIP-seq
MIRT1108899	hsa-miR-520c-5p	CLIP-seq
MIRT1108900	hsa-miR-526a	CLIP-seq
MIRT2261014	hsa-miR-1972	CLIP-seq
MIRT2261015	hsa-miR-3155	CLIP-seq
MIRT2261016	hsa-miR-3155b	CLIP-seq
MIRT2261017	hsa-miR-4650-5p	CLIP-seq
MIRT2261018	hsa-miR-484	CLIP-seq
MIRT2453013	hsa-miR-3188	CLIP-seq
MIRT2561016	hsa-miR-2355-5p	CLIP-seq
MIRT1108871	hsa-miR-331-5p	CLIP-seq
MIRT1108888	hsa-miR-4678	CLIP-seq
MIRT2561017	hsa-miR-4694-3p	CLIP-seq
MIRT1108922	hsa-miR-890	CLIP-seq
MIRT2561016	hsa-miR-2355-5p	CLIP-seq
MIRT2561017	hsa-miR-4694-3p	CLIP-seq
MIRT1108922	hsa-miR-890	CLIP-seq

13 Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 31515488, 32296183, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0032421	Component	Stereocilium bundle	IEA
GO:0032426	Component	Stereocilium tip	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IBA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA

MIM	HGNC	e!Ensembl
609427	21253	ENSG00000197753

Q8TAF8

Protein name

LHFPL tetraspan subfamily member 5 protein (Lipoma HMGIC fusion partner-like 5 protein) (Tetraspan membrane protein of hair cell stereocilia)

Protein function

Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of the shorter stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system. The MET complex is composed

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10242	L_HMGIC_fpl	25 → 202	Lipoma HMGIC fusion partner-like protein	Family

Sequence

MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAG
YFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFI
CNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFM
LAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV

Sequence length

219

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 (8)
Autosomal recessive non-syndromic intellectual disability	Pathogenic	rs1554147220	RCV000498363	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive nonsyndromic hearing loss 67	Pathogenic; Likely pathogenic	rs2151070794, rs1445573930, rs779841884, rs104893975, rs1581972457, rs1554147220, rs1060499810, rs762876554	RCV001823221 RCV001809334 RCV000001762 RCV000001763 RCV000001764 RCV000498363 RCV000454165 RCV000681540 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs753739358	RCV004798846	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic	rs1581972457	RCV001813935	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic	rs1389821363	RCV001375080	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Pathogenic; Likely pathogenic	rs779841884, rs762876554	RCV001291454 RCV001291455	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LHFPL5-related disorder	Likely pathogenic; Pathogenic	rs756967336	RCV003394262	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic	rs756030149	RCV000826115	★★★★★ ★★★★☆ 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 (8)
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ 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 67	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	30177809	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic genetic hearing loss	Uncertain significance	ClinVar ClinGen	ClinGen report	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39749473	★★★★★ ★★☆☆☆ 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 (11)
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	29568747, 37930868	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Autosomal Recessive	Deafness	Pubtator	29568747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 67	Deafness	UNIPROT_DG	16459341, 16752389, 26437881, 28281779		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 67	Deafness	GENOMICS_ENGLAND_DG	16752389		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 67	Deafness	CTD_human_DG	30177809		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 67	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	19888295, 28281779, 30177809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	15905332, 16459341, 16752389, 19102128, 19888295, 21816241, 25467981, 25550511, 26029705, 26437881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	16752389, 17876667, 21816241, 30177809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TPRN	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Congenital ear anomaly","Deafness","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","GWAS catalog (Nonsyndromic intellectual disability)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
MARVELD2	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
PJVK	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
TMIE	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
TMPRSS3	7	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Congenital ear anomaly","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

LHFPL5 (LHFPL tetraspan subfamily member 5)

Bookmark This Gene