PLS1 (plastin 1)

Gene

• Entrez ID: 5357
• Gene name: Plastin 1
• Gene symbol: PLS1
• Synonyms (NCBI Gene): DFNA76
• Chromosome: 3
• Chromosome location: 3q23
• Summary: Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this ge

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1560070780	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1577876794	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1577888561	T>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1577888985	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020466	hsa-miR-106b-5p	Microarray	17242205
MIRT020716	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT023752	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT029352	hsa-miR-26b-5p	Microarray	19088304
MIRT050998	hsa-miR-17-5p	CLASH	23622248
MIRT045231	hsa-miR-186-5p	CLASH	23622248
MIRT044764	hsa-miR-320a	CLASH	23622248
MIRT090625	hsa-miR-3609	PAR-CLIP	21572407
MIRT090626	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT543512	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT020466	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT050998	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT543511	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT543510	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT543509	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT543508	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT543507	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT543506	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT090617	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT090620	hsa-miR-577	PAR-CLIP	21572407
MIRT090616	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT090630	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT090628	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT090629	hsa-miR-5003-5p	PAR-CLIP	21572407
MIRT543505	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT090612	hsa-miR-16-1-3p	PAR-CLIP	21572407
MIRT090618	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT543504	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT090615	hsa-miR-137	PAR-CLIP	21572407
MIRT543503	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT550069	hsa-miR-1178-3p	PAR-CLIP	21572407
MIRT543502	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT090625	hsa-miR-3609	PAR-CLIP	21572407
MIRT090626	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT543512	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT020466	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT050998	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT543511	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT543510	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT543509	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT543508	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT543507	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT543506	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT090620	hsa-miR-577	PAR-CLIP	21572407
MIRT090616	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT090630	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT543505	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT090618	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT543504	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT543503	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT543502	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT090625	hsa-miR-3609	PAR-CLIP	21572407
MIRT090626	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT543512	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT020466	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT050998	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT543511	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT543510	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT543509	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT543508	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT543507	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT543506	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT090617	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT090620	hsa-miR-577	PAR-CLIP	21572407
MIRT090616	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT090630	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT090628	hsa-miR-4709-5p	PAR-CLIP	21572407
MIRT090629	hsa-miR-5003-5p	PAR-CLIP	21572407
MIRT543505	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT090612	hsa-miR-16-1-3p	PAR-CLIP	21572407
MIRT090618	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT543504	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT090615	hsa-miR-137	PAR-CLIP	21572407
MIRT543503	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT550069	hsa-miR-1178-3p	PAR-CLIP	21572407
MIRT543502	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT090625	hsa-miR-3609	PAR-CLIP	21572407
MIRT090626	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT543512	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT020466	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT050998	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT543511	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT543510	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT543509	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT543508	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT543507	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT543506	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT090620	hsa-miR-577	PAR-CLIP	21572407
MIRT090616	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT090630	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT543505	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT090618	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT543504	hsa-miR-4684-3p	PAR-CLIP	21572407
MIRT543503	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT543502	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT1243161	hsa-miR-4717-3p	CLIP-seq
MIRT1243162	hsa-miR-106a	CLIP-seq
MIRT1243163	hsa-miR-106b	CLIP-seq
MIRT1243164	hsa-miR-1178	CLIP-seq
MIRT1243165	hsa-miR-132	CLIP-seq
MIRT1243166	hsa-miR-144	CLIP-seq
MIRT1243167	hsa-miR-17	CLIP-seq
MIRT1243168	hsa-miR-200b	CLIP-seq
MIRT1243169	hsa-miR-200c	CLIP-seq
MIRT1243170	hsa-miR-20a	CLIP-seq
MIRT1243171	hsa-miR-20b	CLIP-seq
MIRT1243172	hsa-miR-212	CLIP-seq
MIRT1243173	hsa-miR-27a	CLIP-seq
MIRT1243174	hsa-miR-27b	CLIP-seq
MIRT1243175	hsa-miR-3149	CLIP-seq
MIRT1243176	hsa-miR-3151	CLIP-seq
MIRT1243177	hsa-miR-3190	CLIP-seq
MIRT1243178	hsa-miR-320b	CLIP-seq
MIRT1243179	hsa-miR-320c	CLIP-seq
MIRT1243180	hsa-miR-320d	CLIP-seq
MIRT1243181	hsa-miR-329	CLIP-seq
MIRT1243182	hsa-miR-3613-3p	CLIP-seq
MIRT1243183	hsa-miR-362-3p	CLIP-seq
MIRT1243184	hsa-miR-4265	CLIP-seq
MIRT1243185	hsa-miR-429	CLIP-seq
MIRT1243186	hsa-miR-4296	CLIP-seq
MIRT1243187	hsa-miR-4322	CLIP-seq
MIRT1243188	hsa-miR-4426	CLIP-seq
MIRT1243189	hsa-miR-4429	CLIP-seq
MIRT1243190	hsa-miR-4434	CLIP-seq
MIRT1243191	hsa-miR-4447	CLIP-seq
MIRT1243192	hsa-miR-4472	CLIP-seq
MIRT1243193	hsa-miR-4516	CLIP-seq
MIRT1243194	hsa-miR-4531	CLIP-seq
MIRT1243195	hsa-miR-4534	CLIP-seq
MIRT1243196	hsa-miR-4647	CLIP-seq
MIRT1243197	hsa-miR-4662b	CLIP-seq
MIRT1243198	hsa-miR-4668-5p	CLIP-seq
MIRT1243199	hsa-miR-4742-3p	CLIP-seq
MIRT1243200	hsa-miR-491-5p	CLIP-seq
MIRT1243201	hsa-miR-513a-5p	CLIP-seq
MIRT1243202	hsa-miR-519d	CLIP-seq
MIRT1243203	hsa-miR-548ah	CLIP-seq
MIRT1243204	hsa-miR-548c-3p	CLIP-seq
MIRT1243205	hsa-miR-625	CLIP-seq
MIRT1243206	hsa-miR-647	CLIP-seq
MIRT1243207	hsa-miR-7	CLIP-seq
MIRT1243208	hsa-miR-922	CLIP-seq
MIRT1243209	hsa-miR-93	CLIP-seq
MIRT2071861	hsa-miR-1299	CLIP-seq
MIRT1243165	hsa-miR-132	CLIP-seq
MIRT1243172	hsa-miR-212	CLIP-seq
MIRT2071862	hsa-miR-3179	CLIP-seq
MIRT1243177	hsa-miR-3190	CLIP-seq
MIRT2071863	hsa-miR-3202	CLIP-seq
MIRT2071864	hsa-miR-3936	CLIP-seq
MIRT2071865	hsa-miR-4257	CLIP-seq
MIRT2071866	hsa-miR-4261	CLIP-seq
MIRT2071867	hsa-miR-4320	CLIP-seq
MIRT1243188	hsa-miR-4426	CLIP-seq
MIRT1243190	hsa-miR-4434	CLIP-seq
MIRT1243193	hsa-miR-4516	CLIP-seq
MIRT1243194	hsa-miR-4531	CLIP-seq
MIRT2071868	hsa-miR-4533	CLIP-seq
MIRT1243195	hsa-miR-4534	CLIP-seq
MIRT1243196	hsa-miR-4647	CLIP-seq
MIRT1243197	hsa-miR-4662b	CLIP-seq
MIRT2071869	hsa-miR-4782-5p	CLIP-seq
MIRT2071870	hsa-miR-4803	CLIP-seq
MIRT2071871	hsa-miR-494	CLIP-seq
MIRT2071872	hsa-miR-516b	CLIP-seq
MIRT1243204	hsa-miR-548c-3p	CLIP-seq
MIRT1243207	hsa-miR-7	CLIP-seq
MIRT2298982	hsa-miR-4643	CLIP-seq
MIRT2298983	hsa-miR-466	CLIP-seq
MIRT2298984	hsa-miR-4789-3p	CLIP-seq
MIRT2595777	hsa-miR-1265	CLIP-seq
MIRT2071861	hsa-miR-1299	CLIP-seq
MIRT1243165	hsa-miR-132	CLIP-seq
MIRT2595778	hsa-miR-15a	CLIP-seq
MIRT2595779	hsa-miR-15b	CLIP-seq
MIRT2595780	hsa-miR-16	CLIP-seq
MIRT2595781	hsa-miR-195	CLIP-seq
MIRT1243168	hsa-miR-200b	CLIP-seq
MIRT1243169	hsa-miR-200c	CLIP-seq
MIRT1243172	hsa-miR-212	CLIP-seq
MIRT2595782	hsa-miR-2392	CLIP-seq
MIRT1243176	hsa-miR-3151	CLIP-seq
MIRT2595783	hsa-miR-3152-3p	CLIP-seq
MIRT1243177	hsa-miR-3190	CLIP-seq
MIRT1243178	hsa-miR-320b	CLIP-seq
MIRT1243179	hsa-miR-320c	CLIP-seq
MIRT1243180	hsa-miR-320d	CLIP-seq
MIRT2595784	hsa-miR-3941	CLIP-seq
MIRT2595785	hsa-miR-424	CLIP-seq
MIRT1243184	hsa-miR-4265	CLIP-seq
MIRT2595786	hsa-miR-4282	CLIP-seq
MIRT1243185	hsa-miR-429	CLIP-seq
MIRT1243186	hsa-miR-4296	CLIP-seq
MIRT2071867	hsa-miR-4320	CLIP-seq
MIRT1243187	hsa-miR-4322	CLIP-seq
MIRT1243188	hsa-miR-4426	CLIP-seq
MIRT1243189	hsa-miR-4429	CLIP-seq
MIRT1243190	hsa-miR-4434	CLIP-seq
MIRT1243191	hsa-miR-4447	CLIP-seq
MIRT1243192	hsa-miR-4472	CLIP-seq
MIRT1243193	hsa-miR-4516	CLIP-seq
MIRT2595787	hsa-miR-4524	CLIP-seq
MIRT1243194	hsa-miR-4531	CLIP-seq
MIRT1243195	hsa-miR-4534	CLIP-seq
MIRT2298982	hsa-miR-4643	CLIP-seq
MIRT1243196	hsa-miR-4647	CLIP-seq
MIRT2298983	hsa-miR-466	CLIP-seq
MIRT1243197	hsa-miR-4662b	CLIP-seq
MIRT1243198	hsa-miR-4668-5p	CLIP-seq
MIRT2595788	hsa-miR-4672	CLIP-seq
MIRT2595789	hsa-miR-4694-3p	CLIP-seq
MIRT2595790	hsa-miR-4703-3p	CLIP-seq
MIRT2595791	hsa-miR-4764-5p	CLIP-seq
MIRT2071869	hsa-miR-4782-5p	CLIP-seq
MIRT2298984	hsa-miR-4789-3p	CLIP-seq
MIRT1243200	hsa-miR-491-5p	CLIP-seq
MIRT2595792	hsa-miR-497	CLIP-seq
MIRT2595793	hsa-miR-503	CLIP-seq
MIRT2071872	hsa-miR-516b	CLIP-seq
MIRT2595794	hsa-miR-548a-5p	CLIP-seq
MIRT2595795	hsa-miR-548ab	CLIP-seq
MIRT2595796	hsa-miR-548ak	CLIP-seq
MIRT2595797	hsa-miR-548b-5p	CLIP-seq
MIRT2595798	hsa-miR-548c-5p	CLIP-seq
MIRT2595799	hsa-miR-548d-5p	CLIP-seq
MIRT2595800	hsa-miR-548h	CLIP-seq
MIRT2595801	hsa-miR-548i	CLIP-seq
MIRT2595802	hsa-miR-548j	CLIP-seq
MIRT2595803	hsa-miR-548k	CLIP-seq
MIRT2595804	hsa-miR-548l	CLIP-seq
MIRT2595805	hsa-miR-548t	CLIP-seq
MIRT2595806	hsa-miR-548w	CLIP-seq
MIRT2595807	hsa-miR-548y	CLIP-seq
MIRT2595808	hsa-miR-559	CLIP-seq
MIRT1243205	hsa-miR-625	CLIP-seq
MIRT2595809	hsa-miR-646	CLIP-seq
MIRT1243206	hsa-miR-647	CLIP-seq
MIRT1243207	hsa-miR-7	CLIP-seq
MIRT1243208	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001951	Process	Intestinal D-glucose absorption	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	8139549
GO:0005509	Function	Calcium ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005884	Component	Actin filament	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005903	Component	Brush border	IEA
GO:0005903	Component	Brush border	ISS
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032432	Component	Actin filament bundle	IBA
GO:0032532	Process	Regulation of microvillus length	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	TAS	8139549
GO:0051017	Process	Actin filament bundle assembly	IBA
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0051639	Process	Actin filament network formation	IBA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	ISS
GO:0060121	Process	Vestibular receptor cell stereocilium organization	IEA
GO:0060121	Process	Vestibular receptor cell stereocilium organization	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902896	Process	Terminal web assembly	IEA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	ISS
GO:1990357	Component	Terminal web	IEA

Other IDs

• MIM: 602734
• HGNC: 9090
• e!Ensembl: ENSG00000120756

Protein

• UniProt ID: Q14651
• Protein name: Plastin-1 (Intestine-specific plastin) (I-plastin)
• Protein function: Actin-bundling protein. In the inner ear, it is required for stereocilia formation. Mediates liquid packing of actin filaments that is necessary for stereocilia to grow to their proper dimensions.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13833	EF-hand_8	3 → 43	EF-hand domain pair	Domain
  PF00036	EF-hand_1	55 → 83	EF hand	Domain
  PF00307	CH	122 → 239	Calponin homology (CH) domain	Domain
  PF00307	CH	266 → 377	Calponin homology (CH) domain	Domain
  PF00307	CH	395 → 505	Calponin homology (CH) domain	Domain
  PF00307	CH	516 → 626	Calponin homology (CH) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: In small intestine, colon, and kidney; relatively lower levels of expression are detected in the lung and stomach. {ECO:0000269|PubMed:8139549}.
• Sequence:

  MENSTTTISREELEELQEAFNKIDIDNSGYVSDYELQDLFKEASLPLPGYKVREIVEKIL
  SVADSNKDGKISFEEFVSLMQELKSKDISKTFRKIINKREGITAIGGTSTISSEGTQHSY
  SEEEKVAFVNWINKALENDPDCKHLIPMNPNDDSLFKSLADGILLCKMINLSEPDTIDER
  AINKKKLTPFTISENLNLALNSASAIGCTVVNIGASDLKEGKPHLVLGLLWQIIKVGLFA
  DIEISRNEALIALLNEGEELEELMKLSPEELLLRWVNYHLTNAGWHTISNFSQDIKDSRA
  YFHLLNQIAPKGGEDGPAIAIDLSGINETNDLKRAGLMLQEADKLGCKQFVTPADVVSGN
  PKLNLAFVANLFNTYPCLHKPNNNDIDMNLLEGESKEERTFRNWMNSLGVNPYINHLYSD
  LADALVIFQLYEMIRVPVNWSHVNKPPYPALGGNMKKIENCNYAVELGKNKAKFSLVGIA
  GQDLNEGNSTLTLALVWQLMRRYTLNVLSDLGEGEKVNDEIIIKWVNQTLKSANKKTSIS
  SFKDKSISTSLPVLDLIDAIAPNAVRQEMIRRENLSDEDKLNNAKYAISVARKIGARIYA
  LPDDLVEVKPKMVMTVFACLMGKGLNRIK

• Sequence length: 629

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant nonsyndromic hearing impairment	Likely pathogenic	rs1560070780	RCV001261780	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nonsyndromic hearing loss	Likely pathogenic	rs1577876794	RCV000856828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral sensorineural hearing impairment	Likely pathogenic	rs1577876794	RCV000856828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic	rs1560070780	RCV000754559	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal dominant 76	Likely pathogenic	rs1560070780, rs1577876794	RCV001003504 RCV001003507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEARING DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 76	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hearing loss and deafness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLS1-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	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
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19223491		★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	30872814	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30872814	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	17114358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	1522211	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	17114358		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	18332252		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30105408		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	31397523		★☆☆☆☆ Found in Text Mining only
Papillon-Lefevre Disease	Papillon-Lefevre Disease	BEFREE	18332252		★☆☆☆☆ Found in Text Mining only