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	5358
Gene name	Plastin 3
Gene symbol	PLS3
Synonyms (NCBI Gene)	BMND18DIH5T-plastin
Chromosome	X
Chromosome location	Xq23
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. Plastin 1 (otherwise known as

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1135402748	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1603241972	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

194

Show/Hide all (194)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023553	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT024836	hsa-miR-215-5p	Microarray	19074876
MIRT026136	hsa-miR-192-5p	Microarray	19074876
MIRT045702	hsa-miR-125a-5p	CLASH	23622248
MIRT044656	hsa-miR-320a	CLASH	23622248
MIRT044656	hsa-miR-320a	CLASH	23622248
MIRT041457	hsa-miR-193b-3p	CLASH	23622248
MIRT038184	hsa-miR-148b-5p	CLASH	23622248
MIRT240846	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT240852	hsa-miR-6507-5p	PAR-CLIP	21572407
MIRT329645	hsa-miR-3653-3p	PAR-CLIP	21572407
MIRT329646	hsa-miR-3658	PAR-CLIP	21572407
MIRT439945	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439945	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT240846	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT240852	hsa-miR-6507-5p	PAR-CLIP	21572407
MIRT329645	hsa-miR-3653-3p	PAR-CLIP	21572407
MIRT329646	hsa-miR-3658	PAR-CLIP	21572407
MIRT1243210	hsa-miR-125b	CLIP-seq
MIRT1243211	hsa-miR-331-3p	CLIP-seq
MIRT1243212	hsa-miR-3613-3p	CLIP-seq
MIRT1243213	hsa-miR-3616-3p	CLIP-seq
MIRT1243214	hsa-miR-3679-3p	CLIP-seq
MIRT1243215	hsa-miR-4319	CLIP-seq
MIRT1243216	hsa-miR-4721	CLIP-seq
MIRT1243217	hsa-miR-544b	CLIP-seq
MIRT1552389	hsa-miR-103a	CLIP-seq
MIRT1552390	hsa-miR-107	CLIP-seq
MIRT1552391	hsa-miR-1179	CLIP-seq
MIRT1552392	hsa-miR-1225-5p	CLIP-seq
MIRT1552393	hsa-miR-185	CLIP-seq
MIRT1552394	hsa-miR-3150b-3p	CLIP-seq
MIRT1552395	hsa-miR-3662	CLIP-seq
MIRT1552396	hsa-miR-4266	CLIP-seq
MIRT1552397	hsa-miR-4306	CLIP-seq
MIRT1552398	hsa-miR-4310	CLIP-seq
MIRT1552399	hsa-miR-4436b-3p	CLIP-seq
MIRT1552400	hsa-miR-4453	CLIP-seq
MIRT1552401	hsa-miR-4538	CLIP-seq
MIRT1552402	hsa-miR-4644	CLIP-seq
MIRT1552403	hsa-miR-4695-5p	CLIP-seq
MIRT1552404	hsa-miR-4712-3p	CLIP-seq
MIRT1552405	hsa-miR-4779	CLIP-seq
MIRT1552406	hsa-miR-4784	CLIP-seq
MIRT1552407	hsa-miR-556-5p	CLIP-seq
MIRT1552408	hsa-miR-765	CLIP-seq
MIRT2432166	hsa-miR-3685	CLIP-seq
MIRT1552392	hsa-miR-1225-5p	CLIP-seq
MIRT2595810	hsa-miR-1247	CLIP-seq
MIRT2595811	hsa-miR-125a-3p	CLIP-seq
MIRT1243210	hsa-miR-125b	CLIP-seq
MIRT2595812	hsa-miR-1279	CLIP-seq
MIRT2595813	hsa-miR-1303	CLIP-seq
MIRT2595814	hsa-miR-2053	CLIP-seq
MIRT2595815	hsa-miR-208a	CLIP-seq
MIRT2595816	hsa-miR-208b	CLIP-seq
MIRT2595817	hsa-miR-297	CLIP-seq
MIRT2595818	hsa-miR-3121-5p	CLIP-seq
MIRT2595819	hsa-miR-3153	CLIP-seq
MIRT2595820	hsa-miR-3161	CLIP-seq
MIRT2595821	hsa-miR-3171	CLIP-seq
MIRT2595822	hsa-miR-3185	CLIP-seq
MIRT2595823	hsa-miR-323-3p	CLIP-seq
MIRT2595824	hsa-miR-330-3p	CLIP-seq
MIRT1243211	hsa-miR-331-3p	CLIP-seq
MIRT2595825	hsa-miR-345	CLIP-seq
MIRT2595826	hsa-miR-3591-3p	CLIP-seq
MIRT2595827	hsa-miR-3591-5p	CLIP-seq
MIRT2595828	hsa-miR-3606	CLIP-seq
MIRT1243213	hsa-miR-3616-3p	CLIP-seq
MIRT2595829	hsa-miR-3617	CLIP-seq
MIRT2595830	hsa-miR-3622a-3p	CLIP-seq
MIRT2595831	hsa-miR-3622b-3p	CLIP-seq
MIRT2595832	hsa-miR-3646	CLIP-seq
MIRT1552395	hsa-miR-3662	CLIP-seq
MIRT2595833	hsa-miR-3663-3p	CLIP-seq
MIRT2595834	hsa-miR-3667-5p	CLIP-seq
MIRT1243214	hsa-miR-3679-3p	CLIP-seq
MIRT2595835	hsa-miR-3682-3p	CLIP-seq
MIRT2432166	hsa-miR-3685	CLIP-seq
MIRT2595836	hsa-miR-371b-5p	CLIP-seq
MIRT2595837	hsa-miR-3926	CLIP-seq
MIRT2595838	hsa-miR-3934	CLIP-seq
MIRT2595839	hsa-miR-412	CLIP-seq
MIRT2595840	hsa-miR-421	CLIP-seq
MIRT2595841	hsa-miR-4272	CLIP-seq
MIRT2595842	hsa-miR-4279	CLIP-seq
MIRT2595843	hsa-miR-4282	CLIP-seq
MIRT2595844	hsa-miR-4303	CLIP-seq
MIRT2595845	hsa-miR-4307	CLIP-seq
MIRT1552398	hsa-miR-4310	CLIP-seq
MIRT1243215	hsa-miR-4319	CLIP-seq
MIRT2595846	hsa-miR-433	CLIP-seq
MIRT2595847	hsa-miR-4422	CLIP-seq
MIRT1552400	hsa-miR-4453	CLIP-seq
MIRT2595848	hsa-miR-4477b	CLIP-seq
MIRT2595849	hsa-miR-451b	CLIP-seq
MIRT1552401	hsa-miR-4538	CLIP-seq
MIRT2595850	hsa-miR-4540	CLIP-seq
MIRT2595851	hsa-miR-4635	CLIP-seq
MIRT2595852	hsa-miR-4639-3p	CLIP-seq
MIRT2595853	hsa-miR-4642	CLIP-seq
MIRT2595854	hsa-miR-4659a-3p	CLIP-seq
MIRT2595855	hsa-miR-4659b-3p	CLIP-seq
MIRT2595856	hsa-miR-4668-5p	CLIP-seq
MIRT2595857	hsa-miR-4693-5p	CLIP-seq
MIRT2595858	hsa-miR-4698	CLIP-seq
MIRT2595859	hsa-miR-4709-3p	CLIP-seq
MIRT2595860	hsa-miR-4709-5p	CLIP-seq
MIRT1552404	hsa-miR-4712-3p	CLIP-seq
MIRT2595861	hsa-miR-4714-5p	CLIP-seq
MIRT1243216	hsa-miR-4721	CLIP-seq
MIRT2595862	hsa-miR-4773	CLIP-seq
MIRT2595863	hsa-miR-4790-3p	CLIP-seq
MIRT2595864	hsa-miR-487a	CLIP-seq
MIRT2595865	hsa-miR-495	CLIP-seq
MIRT2595866	hsa-miR-499-5p	CLIP-seq
MIRT2595867	hsa-miR-513a-3p	CLIP-seq
MIRT1243217	hsa-miR-544b	CLIP-seq
MIRT2595868	hsa-miR-548ag	CLIP-seq
MIRT2595869	hsa-miR-548ai	CLIP-seq
MIRT2595870	hsa-miR-548l	CLIP-seq
MIRT2595871	hsa-miR-548n	CLIP-seq
MIRT2595872	hsa-miR-548s	CLIP-seq
MIRT2595873	hsa-miR-552	CLIP-seq
MIRT2595874	hsa-miR-554	CLIP-seq
MIRT2595875	hsa-miR-567	CLIP-seq
MIRT2595876	hsa-miR-569	CLIP-seq
MIRT2595877	hsa-miR-583	CLIP-seq
MIRT2595878	hsa-miR-605	CLIP-seq
MIRT2595879	hsa-miR-619	CLIP-seq
MIRT2595880	hsa-miR-641	CLIP-seq
MIRT2595881	hsa-miR-664	CLIP-seq
MIRT2595882	hsa-miR-764	CLIP-seq
MIRT2595883	hsa-miR-890	CLIP-seq
MIRT2595884	hsa-miR-921	CLIP-seq
MIRT1552392	hsa-miR-1225-5p	CLIP-seq
MIRT2595811	hsa-miR-125a-3p	CLIP-seq
MIRT1243210	hsa-miR-125b	CLIP-seq
MIRT2595814	hsa-miR-2053	CLIP-seq
MIRT2595815	hsa-miR-208a	CLIP-seq
MIRT2595816	hsa-miR-208b	CLIP-seq
MIRT2595817	hsa-miR-297	CLIP-seq
MIRT2595818	hsa-miR-3121-5p	CLIP-seq
MIRT2595819	hsa-miR-3153	CLIP-seq
MIRT2595820	hsa-miR-3161	CLIP-seq
MIRT2595821	hsa-miR-3171	CLIP-seq
MIRT2595823	hsa-miR-323-3p	CLIP-seq
MIRT2595824	hsa-miR-330-3p	CLIP-seq
MIRT1243211	hsa-miR-331-3p	CLIP-seq
MIRT2595825	hsa-miR-345	CLIP-seq
MIRT2595827	hsa-miR-3591-5p	CLIP-seq
MIRT2595828	hsa-miR-3606	CLIP-seq
MIRT1243213	hsa-miR-3616-3p	CLIP-seq
MIRT2595829	hsa-miR-3617	CLIP-seq
MIRT2595832	hsa-miR-3646	CLIP-seq
MIRT1552395	hsa-miR-3662	CLIP-seq
MIRT1243214	hsa-miR-3679-3p	CLIP-seq
MIRT2432166	hsa-miR-3685	CLIP-seq
MIRT2595837	hsa-miR-3926	CLIP-seq
MIRT2595838	hsa-miR-3934	CLIP-seq
MIRT2595841	hsa-miR-4272	CLIP-seq
MIRT2595843	hsa-miR-4282	CLIP-seq
MIRT2595845	hsa-miR-4307	CLIP-seq
MIRT1243215	hsa-miR-4319	CLIP-seq
MIRT2595846	hsa-miR-433	CLIP-seq
MIRT1552400	hsa-miR-4453	CLIP-seq
MIRT2595848	hsa-miR-4477b	CLIP-seq
MIRT2595849	hsa-miR-451b	CLIP-seq
MIRT1552401	hsa-miR-4538	CLIP-seq
MIRT2595850	hsa-miR-4540	CLIP-seq
MIRT2595851	hsa-miR-4635	CLIP-seq
MIRT2595854	hsa-miR-4659a-3p	CLIP-seq
MIRT2595855	hsa-miR-4659b-3p	CLIP-seq
MIRT2595856	hsa-miR-4668-5p	CLIP-seq
MIRT2595858	hsa-miR-4698	CLIP-seq
MIRT2595859	hsa-miR-4709-3p	CLIP-seq
MIRT1552404	hsa-miR-4712-3p	CLIP-seq
MIRT2595861	hsa-miR-4714-5p	CLIP-seq
MIRT1243216	hsa-miR-4721	CLIP-seq
MIRT2595863	hsa-miR-4790-3p	CLIP-seq
MIRT2595866	hsa-miR-499-5p	CLIP-seq
MIRT1243217	hsa-miR-544b	CLIP-seq
MIRT2595868	hsa-miR-548ag	CLIP-seq
MIRT2595869	hsa-miR-548ai	CLIP-seq
MIRT2595872	hsa-miR-548s	CLIP-seq
MIRT2595873	hsa-miR-552	CLIP-seq
MIRT2595874	hsa-miR-554	CLIP-seq
MIRT2595875	hsa-miR-567	CLIP-seq
MIRT2595876	hsa-miR-569	CLIP-seq
MIRT2595877	hsa-miR-583	CLIP-seq
MIRT2595880	hsa-miR-641	CLIP-seq
MIRT2595882	hsa-miR-764	CLIP-seq
MIRT2595884	hsa-miR-921	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
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:0031594	Component	Neuromuscular junction	IEA
GO:0032432	Component	Actin filament bundle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
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:0060348	Process	Bone development	IMP	24088043
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA
GO:0098699	Function	Structural constituent of presynaptic actin cytoskeleton	IEA
GO:0099140	Process	Presynaptic actin cytoskeleton organization	IEA

MIM	HGNC	e!Ensembl
300131	9091	ENSG00000102024

P13797

Protein name

Plastin-3 (T-fimbrin) (T-plastin)

Protein function

Actin-bundling protein.

PDB

1AOA , 1WJO , 7R94 , 7SX8 , 7SX9 , 7SXA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13499	EF-hand_7	14 → 82	EF-hand domain pair	Domain
PF00307	CH	123 → 239	Calponin homology (CH) domain	Domain
PF00307	CH	267 → 379	Calponin homology (CH) domain	Domain
PF00307	CH	397 → 507	Calponin homology (CH) domain	Domain
PF00307	CH	518 → 628	Calponin homology (CH) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in a variety of organs, including muscle, brain, uterus and esophagus.

Sequence

MDEMATTQISKDELDELKEAFAKVDLNSNGFICDYELHELFKEANMPLPGYKVREIIQKL
MLDGDRNKDGKISFDEFVYIFQEVKSSDIAKTFRKAINRKEGICALGGTSELSSEGTQHS
YSEEEKYAFVNWINKALENDPDCRHVIPMNPNTDDLFKAVGDGIVLCKMINLSVPDTIDE
RAINKKKLTPFIIQENLNLALNSASAIGCHVVNIGAEDLRAGKPHLVLGLLWQIIKIGLF
ADIELSRNEALAALLRDGETLEELMKLSPEELLLRWANFHLENSGWQKINNFSADIKDSK
AYFHLLNQIAPKGQKEGEPRIDINMSGFNETDDLKRAESMLQQADKLGCRQFVTPADVVS
GNPKLNLAFVANLFNKYPALTKPENQDIDWTLLEGETREERTFRNWMNSLGVNPHVNHLY
ADLQDALVILQLYERIKVPVDWSKVNKPPYPKLGANMKKLENCNYAVELGKHPAKFSLVG
IGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKANDDIIVNWVNRTLSEAGKSTS
IQSFKDKTISSSLAVVDLIDAIQPGCINYDLVKSGNLTEDDKHNNAKYAVSMARRIGARV
YALPEDLVEVKPKMVMTVFACLMGRGMKRV

Sequence length

630

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
Bone mineral density quantitative trait locus 18	Likely pathogenic; Pathogenic	rs781875935, rs781935919, rs2147533064, rs2521452967, rs1135402748, rs1603241972, rs2074664927	RCV003147730 RCV002250943 RCV002251141 RCV004594801 RCV000496987 RCV000990931 RCV001254100 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital diaphragmatic hernia	Likely pathogenic	rs2147551760	RCV001827472	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hernia, anterior diaphragmatic	Likely pathogenic	rs2147551760, rs2521471111, rs2521547128	RCV003985024 RCV003405218 RCV003412537	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2147590595, rs2147586886, rs2147533064	RCV005911325 RCV005917574 RCV005930076	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postmenopausal osteoporosis	Pathogenic	rs2147590595	RCV001526508	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2147533057, rs2147585672, rs2521453615	RCV005925661 RCV005924370 RCV005931059	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked osteoporosis with fractures	Likely pathogenic	rs2521534355	RCV003994702	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAPHRAGMATIC HERNIA 5, X-LINKED	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPOROSIS, POSTMENOPAUSAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLS3-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (54)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31717802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	24616189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	27477003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	31968132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25454514, 25880010, 30829071, 31293151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25880010, 30829071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	35773742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23549633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23378342, 24170770, 24217791, 25902072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23549633, 25902072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18569641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31717802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	BEFREE	24088043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	1522211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	18569641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25454514, 25880010, 30829071, 31293151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29610526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25880010, 31293151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23549633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	26573968, 31888525, 36607273, 36812914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	28748388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	19995369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22495182, 24170770, 24217791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31607845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	36812914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	30405713, 30913006		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	33166085	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopenia	Osteopenia	BEFREE	31678489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24088043, 24616189, 25046257, 25209159, 26517534, 27477003, 27566442, 27732335, 28379384, 28605746, 28620780, 28646489, 28748388, 28777485, 29736964 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	24616189, 25209159, 28379384, 28748388, 28777485, 29736964, 30837644, 31968132, 32318696, 32453450, 32655496, 34743040, 35276006, 35752817, 36157448, 37277619, 38043102 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	Pubtator	1522211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	25209159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	35752817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	LHGDN	14612505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	18033314, 22495182, 25806852, 31489115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	19995369, 22495182, 22627769, 25806852, 26930587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	22495182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	19995369, 26930587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	26573968, 36812914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	18440926, 20937953, 21546251, 24172247, 24271012, 26134627, 26573968, 27499521, 28132687, 28289706, 28635376, 28684086, 29552580, 29961886, 30188931, 31607845 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	28748388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35409173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	20569108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29610526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33095806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	22495182		★★★★★ ★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	22495182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	19205026		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked osteoporosis with fractures	Osteoporosis With Fractures, X-Linked	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

PLS3 (plastin 3)