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	125336
Gene name	Lipoxygenase homology PLAT domains 1
Gene symbol	LOXHD1
Synonyms (NCBI Gene)	DFNB77LH2D1
Chromosome	18
Chromosome location	18q21.1
Summary	This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosen

Show/Hide all (55)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61733519	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs75949023	G>A,T	Pathogenic, pathogenic-likely-pathogenic, benign	Stop gained, coding sequence variant, genic upstream transcript variant, synonymous variant
rs116413527	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs121918370	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs140437150	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, genic upstream transcript variant, coding sequence variant
rs141737883	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs182125538	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs188119157	G>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant, genic upstream transcript variant
rs192376005	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs200306249	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs201587138	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs367630521	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, intron variant, upstream transcript variant, coding sequence variant
rs368870055	C>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, genic upstream transcript variant
rs369039902	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs369297699	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs373924055	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs373937326	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs375920647	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs377368588	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, stop gained
rs527536011	G>A,T	Pathogenic	Synonymous variant, upstream transcript variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant
rs528236655	G>A,C	Uncertain-significance, benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs533251927	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs537227442	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs539688337	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs727503146	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs727505104	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, upstream transcript variant
rs749182319	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs749861944	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs764128579	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs768835732	C>G,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs867069460	C>A,G,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs878853231	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886042223	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs886043441	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs886043616	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs886044666	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs889110926	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs932266011	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs961865375	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1057524755	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1223508098	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs1248889536	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1306586204	G>A	Pathogenic	Coding sequence variant, stop gained
rs1409994676	->C	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1440105492	G>A,T	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, intron variant, coding sequence variant, stop gained
rs1468257550	->C	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1555679863	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, upstream transcript variant, stop gained
rs1555680544	C>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1555681351	A>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1555683951	AG>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1598827107	C>T	Pathogenic	Coding sequence variant, stop gained
rs1598909510	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1598914701	->GA	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1599034650	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1599083635	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050251	hsa-miR-25-3p	CLASH	23622248
MIRT1115363	hsa-miR-4691-3p	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	19732867
GO:0032420	Component	Stereocilium	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0042995	Component	Cell projection	IEA

MIM	HGNC	e!Ensembl
613072	26521	ENSG00000167210

Q8IVV2

Protein name

Lipoxygenase homology domain-containing protein 1

Protein function

Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01477	PLAT	45 → 154	PLAT/LH2 domain	Domain
PF01477	PLAT	174 → 286	PLAT/LH2 domain	Domain
PF01477	PLAT	298 → 411	PLAT/LH2 domain	Domain
PF01477	PLAT	427 → 538	PLAT/LH2 domain	Domain
PF01477	PLAT	555 → 671	PLAT/LH2 domain	Domain
PF01477	PLAT	686 → 803	PLAT/LH2 domain	Domain
PF01477	PLAT	816 → 933	PLAT/LH2 domain	Domain
PF01477	PLAT	971 → 1086	PLAT/LH2 domain	Domain
PF01477	PLAT	1102 → 1225	PLAT/LH2 domain	Domain
PF01477	PLAT	1256 → 1372	PLAT/LH2 domain	Domain
PF01477	PLAT	1423 → 1539	PLAT/LH2 domain	Domain
PF01477	PLAT	1554 → 1664	PLAT/LH2 domain	Domain
PF01477	PLAT	1681 → 1796	PLAT/LH2 domain	Domain
PF01477	PLAT	1812 → 1928	PLAT/LH2 domain	Domain
PF01477	PLAT	1950 → 2060	PLAT/LH2 domain	Domain

Sequence

MMPQKKRRRKKDIDFLALYEAELLNYASEDDEGELEHEYYKARVYEVVTATGDVRGAGTD
ANVFITLFGENGLSPKLQLTSKSKSAFEKGNVDVFRVRTNNVGLIYKVRIEHDNTGLNAS
WYLDHVIVTDMKRPHLRYYFNCNNWLSKVEGDRQWCRDLLASFNPMDMPRGNKYEVKVYT
GDVIGAGTDADVFINIFGEYGDTGERRLENEKDNFEKGAEDRFILDAPDLGQLMKINVGH
NNKGGSAGWFLSQIVIEDIGNKRKYDFPLNRWLALDEDDGKIQRDILVGGAETTAITYIV
TVFTGDVRGAGTKSKIYLVMYGARGNKNSGKIFLEGGVFDRGRTDIFHIELAVLLSPLSR
VSVGHGNVGVNRGWFCEKVVILCPFTGIQQTFPCSNWLDEKKADGLIERQLYEMVSLRKK
RLKKFPWSLWVWTTDLKKAGTNSPIFIQIYGQKGRTDEILLNPNNKWFKPGIIEKFRIEL
PDLGRFYKIRVWHDKRSSGSGWHLERMTLMNTLNKDKYNFNCNRWLDANEDDNEIVREMT
AEGPTVRRIMGMARYHVTVCTGELEGAGTDANVYLCLFGDVGDTGERLLYNCRNNTDLFE
KGNADEFTIESVTMRNVRRVRIRHDGKGSGSGWYLDRVLVREEGQPESDNVEFPCLRWLD
KDKDDGQLVRELLPSDSSATLKNFRYHISLKTGDVSGASTDSRVYIKLYGDKSDTIKQVL
LVSDNNLKDYFERGRVDEFTLETLNIGNINRLVIGHDSTGMHASWFLGSVQIRVPRQGKQ
YTFPANRWLDKNQADGRLEVELYPSEVVEIQKLVHYEVEIWTGDVGGAGTSARVYMQIYG
EKGKTEVLFLSSRSKVFERASKDTFQTDTFTIYAIDLGALTKIRIRHDNTGNRAGWFLDR
IDITDMNNEITYYFPCQRWLAVEEDDGQLSRELLPVDESYVLPQSEEGRGGGDNNPLDNL
ALEQKDKSTTFSVTIKTGVKKNAGTDANVFITLFGTQDDTGMTLLKSSKTNSDKFERDSI
EIFTVETLDLGDLWKVRLGHDNTGKAPGWFVDWVEVDAPSLGKCMTFPCGRWLAKNEDDG
SIIRDLFHAELQTRLYTPFVPYEITLYTSDVFAAGTDANIFIIIYGCDAVCTQQKYLCTN
KREQKQFFERKSASRFIVELEDVGEIIEKIRIGHNNTGMNPGWHCSHVDIRRLLPDKDGA
ETLTFPCDRWLATSEDDKKTIRELVPYDIFTEKYMKDGSLRQVYKEVEEPLDIVLYSVQI
FTGNIPGAGTDAKVYITIYGDLGDTGERYLGKSENRTNKFERGTADTFIIEAADLGVIYK
IKLRHDNSKWCADWYVEKVEIWNDTNEDEFLFLCGRWLSLKKEDGRLERLFYEKEYTGDR
SSNCSSPADFWEIALSSKMADVDISTVTGPMADYVQEGPIIPYYVSVTTGKHKDAATDSR
AFIFLIGEDDERSKRIWLDYPRGKRGFSRGSVEEFYVAGLDVGIIKKIELGHDGASPESC
WLVEELCLAVPTQGTKYMLNCNCWLAKDRGDGITSRVFDLLDAMVVNIGVKVLYEMTVWT
GDVVGGGTDSNIFMTLYGINGSTEEMQLDKKKARFEREQNDTFIMEILDIAPFTKMRIRI
DGLGSRPEWFLERILLKNMNTGDLTMFYYGDWLSQRKGKKTLVCEMCAVIDEEEMMEWTS
YTVAVKTSDILGAGTDANVFIIIFGENGDSGTLALKQSANWNKFERNNTDTFNFPDMLSL
GHLCKLRVWHDNKGIFPGWHLSYVDVKDNSRDETFHFQCDCWLSKSEGDGQTVRDFACAN
NKICDELEETTYEIVIETGNGGETRENVWLILEGRKNRSKEFLMENSSRQRAFRKGTTDT
FEFDSIYLGDIASLCVGHLAREDRFIPKRELAWHVKTITITEMEYGNVYFFNCDCLIPLK
RKRKYFKVFEVTKTTESFASKVQSLVPVKYEVIVTTGYEPGAGTDANVFVTIFGANGDTG
KRELKQKMRNLFERGSTDRFFLETLELGELRKVRLEHDSSGYCSGWLVEKVEVTNTSTGV
ATIFNCGRWLDKKRGDGLTWRDLFPSV

Sequence length

2067

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 77	Likely pathogenic; Pathogenic	rs960741408, rs776345911, rs2144167172, rs1280052681, rs1463849219, rs770408532, rs1434725624, rs2143918072, rs35449699, rs184966970, rs2144134166, rs909435840, rs2143422217, rs2144243196, rs777587826 View all (91 more)	RCV001374669 RCV002476713 RCV001836386 RCV001826141 RCV005014513 View all (104 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs75949023, rs1248889536	RCV004798747 RCV000520304	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs1598827506, rs776345911, rs1289895910, rs537227442, rs188119157	RCV001375174 RCV001375173 RCV001375256 RCV001375172 RCV001375153	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs537227442	RCV000627051	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LOXHD1-related disorder	Pathogenic; Likely pathogenic	rs931911802, rs121918370, rs201587138, rs886043616, rs886044666, rs774921125, rs75949023, rs537227442	RCV003911131 RCV003398397 RCV004751298 RCV004751436 RCV004751448 RCV003408617 RCV004751222 RCV004751638 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs1166673793, rs974766727, rs201587138, rs2511924769, rs759837659, rs1177885503, rs775711191, rs763915229, rs1555679863, rs770258999	RCV003235570 RCV003226471 RCV001544522 RCV002308523 RCV002510265 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs2144321916, rs201587138, rs373937326, rs727503146, rs727505104, rs75949023, rs1555683951, rs1555681351, rs1555679863, rs961865375, rs188119157	RCV001449809 RCV000155144 RCV000150972 RCV000150981 RCV000156553 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

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 DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
concomitant exotropia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 77	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS' ENDOTHELIAL DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VATER association	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

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
Brain Neoplasms	Brain neoplasms	Pubtator	29287594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29287594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	17564975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	22975204, 23226338, 25792669, 28900111, 30139988, 35062939	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Autosomal Recessive 77	Deafness	Pubtator	31547530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)	Deafness	CLINVAR_DG	21465660, 22975204, 23226338, 23897863, 25333069, 25792669, 27959697		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)	Deafness	GENOMICS_ENGLAND_DG	22341973		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)	Deafness	BEFREE	30760222		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)	Deafness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	22341973, 29676012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	22341973, 29676012, 29799290, 30267097		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	25548511, 27121161, 40244234	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	25792669, 30123251, 30760222, 31547530, 31709873, 32149082, 32682410, 32991204, 34753855, 35062939, 37438890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	26973026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	19732867, 21465660, 26969326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	26973026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	17564975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 11	Orofacial cleft	Pubtator	17564975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35705030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

LOXHD1 (lipoxygenase homology PLAT domains 1)