Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5802
Gene name	Protein tyrosine phosphatase receptor type S
Gene symbol	PTPRS
Synonyms (NCBI Gene)	PTP-sigmaPTPSIGMAR-PTP-SR-PTP-sigma
Chromosome	19
Chromosome location	19p13.3
Summary	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran

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SNP ID	Visualize variation	Clinical significance	Consequence
rs140472977	C>T	Likely-pathogenic	Missense variant, coding sequence variant

198

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miRTarBase ID	miRNA	Experiments	Reference
MIRT050574	hsa-miR-20a-5p	CLASH	23622248
MIRT439861	hsa-miR-539-3p	HITS-CLIP	24374217
MIRT439859	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT439858	hsa-miR-381-3p	HITS-CLIP	24374217
MIRT439857	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT439861	hsa-miR-539-3p	HITS-CLIP	24374217
MIRT439859	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT439858	hsa-miR-381-3p	HITS-CLIP	24374217
MIRT439857	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT1276463	hsa-miR-203	CLIP-seq
MIRT1276464	hsa-miR-3136-5p	CLIP-seq
MIRT1276465	hsa-miR-4439	CLIP-seq
MIRT1276466	hsa-miR-488	CLIP-seq
MIRT1276467	hsa-miR-582-5p	CLIP-seq
MIRT1276468	hsa-miR-616	CLIP-seq
MIRT1276469	hsa-miR-924	CLIP-seq
MIRT1276470	hsa-miR-935	CLIP-seq
MIRT1276471	hsa-miR-943	CLIP-seq
MIRT2081306	hsa-miR-3180	CLIP-seq
MIRT2081307	hsa-miR-3180-3p	CLIP-seq
MIRT2081308	hsa-miR-3196	CLIP-seq
MIRT2081309	hsa-miR-377	CLIP-seq
MIRT2081310	hsa-miR-4693-3p	CLIP-seq
MIRT2081311	hsa-miR-4731-5p	CLIP-seq
MIRT1276467	hsa-miR-582-5p	CLIP-seq
MIRT1276470	hsa-miR-935	CLIP-seq
MIRT2307287	hsa-miR-3673	CLIP-seq
MIRT2604791	hsa-miR-1178	CLIP-seq
MIRT2604792	hsa-miR-125a-5p	CLIP-seq
MIRT2604793	hsa-miR-125b	CLIP-seq
MIRT2604794	hsa-miR-1266	CLIP-seq
MIRT2604795	hsa-miR-1275	CLIP-seq
MIRT2604796	hsa-miR-190	CLIP-seq
MIRT2604797	hsa-miR-190b	CLIP-seq
MIRT2604798	hsa-miR-1915	CLIP-seq
MIRT2604799	hsa-miR-2115	CLIP-seq
MIRT2604800	hsa-miR-2861	CLIP-seq
MIRT2604801	hsa-miR-299-3p	CLIP-seq
MIRT2604802	hsa-miR-3120-3p	CLIP-seq
MIRT2604803	hsa-miR-3120-5p	CLIP-seq
MIRT2604804	hsa-miR-3125	CLIP-seq
MIRT2604805	hsa-miR-3132	CLIP-seq
MIRT2604806	hsa-miR-3148	CLIP-seq
MIRT2604807	hsa-miR-3151	CLIP-seq
MIRT2604808	hsa-miR-3153	CLIP-seq
MIRT2604809	hsa-miR-3155	CLIP-seq
MIRT2604810	hsa-miR-3155b	CLIP-seq
MIRT2604811	hsa-miR-3163	CLIP-seq
MIRT2604812	hsa-miR-3175	CLIP-seq
MIRT2081306	hsa-miR-3180	CLIP-seq
MIRT2081307	hsa-miR-3180-3p	CLIP-seq
MIRT2604813	hsa-miR-3182	CLIP-seq
MIRT2604814	hsa-miR-3183	CLIP-seq
MIRT2604815	hsa-miR-3185	CLIP-seq
MIRT2604816	hsa-miR-3189-3p	CLIP-seq
MIRT2604817	hsa-miR-3189-5p	CLIP-seq
MIRT2081308	hsa-miR-3196	CLIP-seq
MIRT2604818	hsa-miR-340	CLIP-seq
MIRT2604819	hsa-miR-361-3p	CLIP-seq
MIRT2604820	hsa-miR-3646	CLIP-seq
MIRT2604821	hsa-miR-3647-3p	CLIP-seq
MIRT2604822	hsa-miR-3662	CLIP-seq
MIRT2604823	hsa-miR-3916	CLIP-seq
MIRT2604824	hsa-miR-3928	CLIP-seq
MIRT2604825	hsa-miR-4252	CLIP-seq
MIRT2604826	hsa-miR-4257	CLIP-seq
MIRT2604827	hsa-miR-4279	CLIP-seq
MIRT2604828	hsa-miR-4282	CLIP-seq
MIRT2604829	hsa-miR-4319	CLIP-seq
MIRT2604830	hsa-miR-4330	CLIP-seq
MIRT2604831	hsa-miR-4447	CLIP-seq
MIRT2604832	hsa-miR-4451	CLIP-seq
MIRT2604833	hsa-miR-4472	CLIP-seq
MIRT2604834	hsa-miR-4488	CLIP-seq
MIRT2604835	hsa-miR-4518	CLIP-seq
MIRT2604836	hsa-miR-4651	CLIP-seq
MIRT2604837	hsa-miR-4659a-3p	CLIP-seq
MIRT2604838	hsa-miR-4659b-3p	CLIP-seq
MIRT2604839	hsa-miR-4661-3p	CLIP-seq
MIRT2604840	hsa-miR-4665-5p	CLIP-seq
MIRT2604841	hsa-miR-4668-5p	CLIP-seq
MIRT2604842	hsa-miR-4671-5p	CLIP-seq
MIRT2604843	hsa-miR-4677-3p	CLIP-seq
MIRT2604844	hsa-miR-4679	CLIP-seq
MIRT2604845	hsa-miR-4691-3p	CLIP-seq
MIRT2604846	hsa-miR-4697-5p	CLIP-seq
MIRT2604847	hsa-miR-4716-3p	CLIP-seq
MIRT2604848	hsa-miR-4723-3p	CLIP-seq
MIRT2604849	hsa-miR-4726-3p	CLIP-seq
MIRT2604850	hsa-miR-4732-3p	CLIP-seq
MIRT2604851	hsa-miR-4742-3p	CLIP-seq
MIRT2604852	hsa-miR-4751	CLIP-seq
MIRT2604853	hsa-miR-4758-3p	CLIP-seq
MIRT2604854	hsa-miR-4766-5p	CLIP-seq
MIRT2604855	hsa-miR-4775	CLIP-seq
MIRT2604856	hsa-miR-4787-5p	CLIP-seq
MIRT2604857	hsa-miR-483-5p	CLIP-seq
MIRT2604858	hsa-miR-484	CLIP-seq
MIRT2604859	hsa-miR-486-3p	CLIP-seq
MIRT1276466	hsa-miR-488	CLIP-seq
MIRT2604860	hsa-miR-491-5p	CLIP-seq
MIRT2604861	hsa-miR-494	CLIP-seq
MIRT2604862	hsa-miR-503	CLIP-seq
MIRT2604863	hsa-miR-516a-3p	CLIP-seq
MIRT2604864	hsa-miR-520d-5p	CLIP-seq
MIRT2604865	hsa-miR-524-5p	CLIP-seq
MIRT2604866	hsa-miR-548a-5p	CLIP-seq
MIRT2604867	hsa-miR-548aa	CLIP-seq
MIRT2604868	hsa-miR-548ab	CLIP-seq
MIRT2604869	hsa-miR-548ak	CLIP-seq
MIRT2604870	hsa-miR-548b-5p	CLIP-seq
MIRT2604871	hsa-miR-548c-3p	CLIP-seq
MIRT2604872	hsa-miR-548c-5p	CLIP-seq
MIRT2604873	hsa-miR-548d-5p	CLIP-seq
MIRT2604874	hsa-miR-548h	CLIP-seq
MIRT2604875	hsa-miR-548i	CLIP-seq
MIRT2604876	hsa-miR-548j	CLIP-seq
MIRT2604877	hsa-miR-548w	CLIP-seq
MIRT2604878	hsa-miR-548y	CLIP-seq
MIRT2604879	hsa-miR-559	CLIP-seq
MIRT2604880	hsa-miR-572	CLIP-seq
MIRT2604881	hsa-miR-583	CLIP-seq
MIRT2604882	hsa-miR-600	CLIP-seq
MIRT2604883	hsa-miR-602	CLIP-seq
MIRT2604884	hsa-miR-608	CLIP-seq
MIRT2604885	hsa-miR-615-3p	CLIP-seq
MIRT2604886	hsa-miR-625	CLIP-seq
MIRT2604887	hsa-miR-653	CLIP-seq
MIRT2604888	hsa-miR-654-3p	CLIP-seq
MIRT2604889	hsa-miR-670	CLIP-seq
MIRT2604890	hsa-miR-938	CLIP-seq
MIRT2604891	hsa-miR-941	CLIP-seq
MIRT2604792	hsa-miR-125a-5p	CLIP-seq
MIRT2604793	hsa-miR-125b	CLIP-seq
MIRT2604795	hsa-miR-1275	CLIP-seq
MIRT2604796	hsa-miR-190	CLIP-seq
MIRT2604797	hsa-miR-190b	CLIP-seq
MIRT2604798	hsa-miR-1915	CLIP-seq
MIRT2604801	hsa-miR-299-3p	CLIP-seq
MIRT2604802	hsa-miR-3120-3p	CLIP-seq
MIRT2604803	hsa-miR-3120-5p	CLIP-seq
MIRT2604804	hsa-miR-3125	CLIP-seq
MIRT2604806	hsa-miR-3148	CLIP-seq
MIRT2604807	hsa-miR-3151	CLIP-seq
MIRT2604808	hsa-miR-3153	CLIP-seq
MIRT2604809	hsa-miR-3155	CLIP-seq
MIRT2604810	hsa-miR-3155b	CLIP-seq
MIRT2604812	hsa-miR-3175	CLIP-seq
MIRT2081306	hsa-miR-3180	CLIP-seq
MIRT2081307	hsa-miR-3180-3p	CLIP-seq
MIRT2604814	hsa-miR-3183	CLIP-seq
MIRT2604815	hsa-miR-3185	CLIP-seq
MIRT2604816	hsa-miR-3189-3p	CLIP-seq
MIRT2604817	hsa-miR-3189-5p	CLIP-seq
MIRT2081308	hsa-miR-3196	CLIP-seq
MIRT2604819	hsa-miR-361-3p	CLIP-seq
MIRT2604821	hsa-miR-3647-3p	CLIP-seq
MIRT2604823	hsa-miR-3916	CLIP-seq
MIRT2604824	hsa-miR-3928	CLIP-seq
MIRT2604825	hsa-miR-4252	CLIP-seq
MIRT2604826	hsa-miR-4257	CLIP-seq
MIRT2604827	hsa-miR-4279	CLIP-seq
MIRT2604828	hsa-miR-4282	CLIP-seq
MIRT2604829	hsa-miR-4319	CLIP-seq
MIRT2604830	hsa-miR-4330	CLIP-seq
MIRT2604831	hsa-miR-4447	CLIP-seq
MIRT2604833	hsa-miR-4472	CLIP-seq
MIRT2604834	hsa-miR-4488	CLIP-seq
MIRT2604839	hsa-miR-4661-3p	CLIP-seq
MIRT2604840	hsa-miR-4665-5p	CLIP-seq
MIRT2604841	hsa-miR-4668-5p	CLIP-seq
MIRT2604842	hsa-miR-4671-5p	CLIP-seq
MIRT2604845	hsa-miR-4691-3p	CLIP-seq
MIRT2604846	hsa-miR-4697-5p	CLIP-seq
MIRT2604847	hsa-miR-4716-3p	CLIP-seq
MIRT2604848	hsa-miR-4723-3p	CLIP-seq
MIRT2604849	hsa-miR-4726-3p	CLIP-seq
MIRT2604850	hsa-miR-4732-3p	CLIP-seq
MIRT2604851	hsa-miR-4742-3p	CLIP-seq
MIRT2604852	hsa-miR-4751	CLIP-seq
MIRT2604853	hsa-miR-4758-3p	CLIP-seq
MIRT2604854	hsa-miR-4766-5p	CLIP-seq
MIRT2604855	hsa-miR-4775	CLIP-seq
MIRT2604857	hsa-miR-483-5p	CLIP-seq
MIRT2604858	hsa-miR-484	CLIP-seq
MIRT2604859	hsa-miR-486-3p	CLIP-seq
MIRT2604860	hsa-miR-491-5p	CLIP-seq
MIRT2604861	hsa-miR-494	CLIP-seq
MIRT2604862	hsa-miR-503	CLIP-seq
MIRT2604864	hsa-miR-520d-5p	CLIP-seq
MIRT2604865	hsa-miR-524-5p	CLIP-seq
MIRT2604881	hsa-miR-583	CLIP-seq
MIRT2604882	hsa-miR-600	CLIP-seq
MIRT2604885	hsa-miR-615-3p	CLIP-seq
MIRT2604886	hsa-miR-625	CLIP-seq
MIRT2604888	hsa-miR-654-3p	CLIP-seq
MIRT2604889	hsa-miR-670	CLIP-seq
MIRT2604890	hsa-miR-938	CLIP-seq

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IDA	8524829
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	ISS
GO:0005515	Function	Protein binding	IPI	16273344, 32814053
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	26231120
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8524829
GO:0006470	Process	Protein dephosphorylation	IDA	8524829
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0008201	Function	Heparin binding	IEA
GO:0008201	Function	Heparin binding	ISS
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030517	Process	Negative regulation of axon extension	IEA
GO:0030517	Process	Negative regulation of axon extension	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032687	Process	Negative regulation of interferon-alpha production	IMP	26231120
GO:0032688	Process	Negative regulation of interferon-beta production	IMP	26231120
GO:0034164	Process	Negative regulation of toll-like receptor 9 signaling pathway	IMP	26231120
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	ISS
GO:0035374	Function	Chondroitin sulfate binding	IEA
GO:0035374	Function	Chondroitin sulfate binding	ISS
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043395	Function	Heparan sulfate proteoglycan binding	ISS
GO:0045202	Component	Synapse	IEA
GO:0048671	Process	Negative regulation of collateral sprouting	IEA
GO:0048671	Process	Negative regulation of collateral sprouting	ISS
GO:0048681	Process	Negative regulation of axon regeneration	IEA
GO:0048681	Process	Negative regulation of axon regeneration	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0061000	Process	Negative regulation of dendritic spine development	IEA
GO:0061000	Process	Negative regulation of dendritic spine development	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090557	Process	Establishment of endothelial intestinal barrier	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099151	Process	Regulation of postsynaptic density assembly	IEA
GO:0099537	Process	Trans-synaptic signaling	IEA
GO:0099560	Process	Synaptic membrane adhesion	IBA
GO:0099560	Process	Synaptic membrane adhesion	IDA	23345436
GO:0099560	Process	Synaptic membrane adhesion	IEA
GO:0099560	Process	Synaptic membrane adhesion	IMP	23345436

MIM	HGNC	e!Ensembl
601576	9681	ENSG00000105426

Q13332

Protein name

Receptor-type tyrosine-protein phosphatase S (R-PTP-S) (EC 3.1.3.48) (Receptor-type tyrosine-protein phosphatase sigma) (R-PTP-sigma)

Protein function

Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan (PubMed:21454754). Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPR

PDB

2FH7 , 2YD2 , 2YD3 , 2YD9 , 4BPC , 4PBX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	33 → 124	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	135 → 220		Domain
PF07679	I-set	245 → 328	Immunoglobulin I-set domain	Domain
PF00041	fn3	333 → 414	Fibronectin type III domain	Domain
PF00041	fn3	428 → 513	Fibronectin type III domain	Domain
PF00041	fn3	526 → 606	Fibronectin type III domain	Domain
PF00041	fn3	620 → 708	Fibronectin type III domain	Domain
PF00041	fn3	722 → 821	Fibronectin type III domain	Domain
PF00041	fn3	835 → 917	Fibronectin type III domain	Domain
PF00041	fn3	930 → 1022	Fibronectin type III domain	Domain
PF00102	Y_phosphatase	1416 → 1647	Protein-tyrosine phosphatase	Domain
PF00102	Y_phosphatase	1705 → 1938	Protein-tyrosine phosphatase	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in peripheral blood plasmacytoid dendritic cells (at protein level) (PubMed:26231120). Detected in all tissues tested except for placenta and liver (PubMed:8524829, PubMed:8992885). Detected in peripheral blood plasmacytoid de

Sequence

MAPTWGPGMVSVVGPMGLLVVLLVGGCAAEEPPRFIKEPKDQIGVSGGVASFVCQATGDP
KPRVTWNKKGKKVNSQRFETIEFDESAGAVLRIQPLRTPRDENVYECVAQNSVGEITVHA
KLTVLREDQLPSGFPNIDMGPQLKVVERTRTATMLCAASGNPDPEITWFKDFLPVDPSAS
NGRIKQLRSETFESTPIRGALQIESSEETDQGKYECVATNSAGVRYSSPANLYVRELREV
RRVAPRFSILPMSHEIMPGGNVNITCVAVGSPMPYVKWMQGAEDLTPEDDMPVGRNVLEL
TDVKDSANYTCVAMSSLGVIEAVAQITVKSLPKAPGTPMVTENTATSITITWDSGNPDPV
SYYVIEYKSKSQDGPYQIKEDITTTRYSIGGLSPNSEYEIWVSAVNSIGQGPPSESVVTR
TGEQAPASAPRNVQARMLSATTMIVQWEEPVEPNGLIRGYRVYYTMEPEHPVGNWQKHNV
DDSLLTTVGSLLEDETYTVRVLAFTSVGDGPLSDPIQVKTQQGVPGQPMNLRAEARSETS
ITLSWSPPRQESIIKYELLFREGDHGREVGRTFDPTTSYVVEDLKPNTEYAFRLAARSPQ
GLGAFTPVVRQRTLQSKPSAPPQDVKCVSVRSTAILVSWRPPPPETHNGALVGYSVRYRP
LGSEDPEPKEVNGIPPTTTQILLEALEKWTQYRITTVAHTEVGPGPESSPVVVRTDEDVP
SAPPRKVEAEALNATAIRVLWRSPAPGRQHGQIRGYQVHYVRMEGAEARGPPRIKDVMLA
DAQWETDDTAEYEMVITNLQPETAYSITVAAYTMKGDGARSKPKVVVTKGAVLGRPTLSV
QQTPEGSLLARWEPPAGTAEDQVLGYRLQFGREDSTPLATLEFPPSEDRYTASGVHKGAT
YVFRLAARSRGGLGEEAAEVLSIPEDTPRGHPQILEAAGNASAGTVLLRWLPPVPAERNG
AIVKYTVAVREAGALGPARETELPAAAEPGAENALTLQGLKPDTAYDLQVRAHTRRGPGP
FSPPVRYRTFLRDQVSPKNFKVKMIMKTSVLLSWEFPDNYNSPTPYKIQYNGLTLDVDGR
TTKKLITHLKPHTFYNFVLTNRGSSLGGLQQTVTAWTAFNLLNGKPSVAPKPDADGFIMV
YLPDGQSPVPVQSYFIVMVPLRKSRGGQFLTPLGSPEDMDLEELIQDISRLQRRSLRHSR
QLEVPRPYIAARFSVLPPTFHPGDQKQYGGFDNRGLEPGHRYVLFVLAVLQKSEPTFAAS
PFSDPFQLDNPDPQPIVDGEEGLIWVIGPVLAVVFIICIVIAILLYKNKPDSKRKDSEPR
TKCLLNNADLAPHHPKDPVEMRRINFQTPDSGLRSPLREPGFHFESMLSHPPIPIADMAE
HTERLKANDSLKLSQEYESIDPGQQFTWEHSNLEVNKPKNRYANVIAYDHSRVILQPIEG
IMGSDYINANYVDGYRCQNAYIATQGPLPETFGDFWRMVWEQRSATIVMMTRLEEKSRIK
CDQYWPNRGTETYGFIQVTLLDTIELATFCVRTFSLHKNGSSEKREVRQFQFTAWPDHGV
PEYPTPFLAFLRRVKTCNPPDAGPIVVHCSAGVGRTGCFIVIDAMLERIKPEKTVDVYGH
VTLMRSQRNYMVQTEDQYSFIHEALLEAVGCGNTEVPARSLYAYIQKLAQVEPGEHVTGM
ELEFKRLANSKAHTSRFISANLPCNKFKNRLVNIMPYESTRVCLQPIRGVEGSDYINASF
IDGYRQQKAYIATQGPLAETTEDFWRMLWENNSTIVVMLTKLREMGREKCHQYWPAERSA
RYQYFVVDPMAEYNMPQYILREFKVTDARDGQSRTVRQFQFTDWPEQGVPKSGEGFIDFI
GQVHKTKEQFGQDGPISVHCSAGVGRTGVFITLSIVLERMRYEGVVDIFQTVKMLRTQRP
AMVQTEDEYQFCYQAALEYLGSFDHYAT

Sequence length

1948

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules		Receptor-type tyrosine-protein phosphatases Synaptic adhesion-like molecules

104

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
NK-cell enteropathy	Likely pathogenic	rs140472977	RCV000791306

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs61729768, rs61743105	RCV005935204 RCV005912027
Clear cell carcinoma of kidney	Benign	rs61729768, rs61743105	RCV005935205 RCV005912028
Familial cancer of breast	Uncertain significance	rs368528400	RCV005933503
Gastric cancer	Benign	rs61729768	RCV005935207
Hearing impairment	Uncertain significance	rs769925793, rs199604489	RCV000754560 RCV000754561
Lung cancer	Benign	rs61729768	RCV005935208
Malignant tumor of esophagus	Benign	rs61743105	RCV005912026
Ovarian serous cystadenocarcinoma	Benign	rs61743105	RCV005912030
PTPRS-related disorder	Uncertain significance; Likely benign; Benign	rs372181642, rs1228933665, rs772956659, rs1463514289, rs115759427, rs199955163, rs61729781, rs116188095, rs141597386, rs538484063, rs567774081, rs115646246, rs2230607, rs186731512, rs199734331 View all (73 more)	RCV003918994 RCV003411996 RCV003402140 RCV003410787 RCV003946569 RCV003980902 RCV003938959 RCV003894649 RCV003897266 RCV003907159 RCV003921512 RCV003921783 RCV003919690 RCV003914689 RCV003917300 RCV003896385 RCV003893900 RCV003904203 RCV003906917 RCV003911799 RCV003903906 RCV003897169 RCV003911384 RCV003909632 RCV003933935 RCV003939873 RCV003943962 RCV003934550 RCV003944049 RCV003937314 RCV003961624 RCV003961723 RCV003964017 RCV003971896 RCV003971915 RCV003917066 RCV003919560 RCV003931604 RCV003931798 RCV003927083 RCV003939684 RCV003934765 RCV003949701 RCV003949806 RCV003937292 RCV003961404 RCV003932294 RCV003947183 RCV003934694 RCV003934706 RCV003934731 RCV003949530 RCV003954714 RCV003954739 RCV003957094 RCV003961946 RCV003922107 RCV003924211 RCV003932044 RCV003932170 RCV003932191 RCV003932210 RCV003932215 RCV003952323 RCV003956805 RCV003954465 RCV003983561 RCV003967202 RCV003969388 RCV003972248 RCV003978185 RCV003915956 RCV003943086 RCV003903187 RCV003915983 RCV003926206 RCV003926227 RCV003926228 RCV003916141 RCV003926229 RCV003916088 RCV003950407 RCV003930755 RCV003922966 RCV003912891 RCV003950692 RCV003958334 RCV003978239
Sarcoma	Benign	rs61729768, rs61743105	RCV005935206 RCV005912029
Uterine corpus endometrial carcinoma	Benign	rs61729768, rs61743105	RCV005935209 RCV005912031

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	21303930
Carcinoma Non Small Cell Lung	Associate	34615542
Cholangiocarcinoma	Associate	35991009
Colorectal Neoplasms	Associate	19000305, 29915291
Head and Neck Neoplasms	Associate	22065749
Leukemia	Associate	26308964
Lung Neoplasms	Associate	22065749
Lymphatic Metastasis	Associate	35991009
Motor Disorders	Associate	38181310
Neoplasms	Associate	19000305, 20111712, 21303930, 31811114
Ovarian Neoplasms	Associate	20111712

PTPRS (protein tyrosine phosphatase receptor type S)