PTPRD (protein tyrosine phosphatase receptor type D)

Gene

• Entrez ID: 5789
• Gene name: Protein tyrosine phosphatase receptor type D
• Gene symbol: PTPRD
• Synonyms (NCBI Gene): HPTP, HPTPD, HPTPDELTA, PTPD, R-PTP-delta, RPTPDELTA
• Chromosome: 9
• Chromosome location: 9p24.1-p23
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016634	hsa-miR-429	Reporter assay	20005803
MIRT020345	hsa-miR-200a-3p	Reporter assay	20005803
MIRT021067	hsa-miR-200c-3p	Reporter assay	20005803
MIRT021661	hsa-miR-141-3p	Reporter assay	20005803
MIRT023978	hsa-miR-1-3p	Microarray	18668037
MIRT024123	hsa-miR-200b-3p	Reporter assay	20005803
MIRT555148	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT555147	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT555146	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT555145	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT555144	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT555142	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT555143	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT555141	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT555140	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT555139	hsa-miR-646	PAR-CLIP	21572407
MIRT555138	hsa-miR-3163	PAR-CLIP	21572407
MIRT325265	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT555137	hsa-miR-8076	PAR-CLIP	21572407
MIRT555136	hsa-miR-1246	PAR-CLIP	21572407
MIRT555135	hsa-miR-891b	PAR-CLIP	21572407
MIRT555134	hsa-miR-3201	PAR-CLIP	21572407
MIRT555132	hsa-miR-4791	PAR-CLIP	21572407
MIRT555133	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT555131	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT555130	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT325259	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT555129	hsa-miR-3924	PAR-CLIP	21572407
MIRT555128	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT555148	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT555147	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT555146	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT555145	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT555144	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT555142	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT555143	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT555141	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT555140	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT555139	hsa-miR-646	PAR-CLIP	21572407
MIRT555138	hsa-miR-3163	PAR-CLIP	21572407
MIRT325265	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT555137	hsa-miR-8076	PAR-CLIP	21572407
MIRT555136	hsa-miR-1246	PAR-CLIP	21572407
MIRT555135	hsa-miR-891b	PAR-CLIP	21572407
MIRT555134	hsa-miR-3201	PAR-CLIP	21572407
MIRT555132	hsa-miR-4791	PAR-CLIP	21572407
MIRT555133	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT555131	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT555130	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT325259	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT555129	hsa-miR-3924	PAR-CLIP	21572407
MIRT555128	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT1276000	hsa-miR-1261	CLIP-seq
MIRT1276001	hsa-miR-135a	CLIP-seq
MIRT1276002	hsa-miR-135b	CLIP-seq
MIRT1276003	hsa-miR-186	CLIP-seq
MIRT1276004	hsa-miR-204	CLIP-seq
MIRT1276005	hsa-miR-211	CLIP-seq
MIRT1276006	hsa-miR-3126-3p	CLIP-seq
MIRT1276007	hsa-miR-3128	CLIP-seq
MIRT1276008	hsa-miR-3133	CLIP-seq
MIRT1276009	hsa-miR-3614-5p	CLIP-seq
MIRT1276010	hsa-miR-4446-5p	CLIP-seq
MIRT1276011	hsa-miR-4633-5p	CLIP-seq
MIRT1276012	hsa-miR-4720-5p	CLIP-seq
MIRT1276013	hsa-miR-4755-5p	CLIP-seq
MIRT1276014	hsa-miR-4799-3p	CLIP-seq
MIRT1276015	hsa-miR-515-5p	CLIP-seq
MIRT1276016	hsa-miR-623	CLIP-seq
MIRT1276017	hsa-miR-890	CLIP-seq
MIRT1276018	hsa-miR-4536	CLIP-seq
MIRT1276019	hsa-miR-4666-5p	CLIP-seq
MIRT1276020	hsa-miR-642a	CLIP-seq
MIRT2081184	hsa-miR-3646	CLIP-seq
MIRT2081185	hsa-miR-3978	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	IEA
GO:0005001	Function	Transmembrane receptor protein tyrosine phosphatase activity	TAS	7896816
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	12570871, 22305495
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7896816
GO:0006796	Process	Phosphate-containing compound metabolic process	NAS	7896816
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007185	Process	Cell surface receptor protein tyrosine phosphatase signaling pathway	IEA
GO:0007185	Process	Cell surface receptor protein tyrosine phosphatase signaling pathway	TAS	7896816
GO:0007399	Process	Nervous system development	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0042734	Component	Presynaptic membrane	IEA
GO:0046426	Process	Negative regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IEA
GO:0050776	Process	Regulation of immune response	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050839	Function	Cell adhesion molecule binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	ISS
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0051965	Process	Positive regulation of synapse assembly	ISS
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	IEA
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097105	Process	Presynaptic membrane assembly	IEA
GO:0097105	Process	Presynaptic membrane assembly	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IDA	21926414
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	21926414
GO:0099054	Process	Presynapse assembly	IDA	21926414
GO:0099054	Process	Presynapse assembly	IEA
GO:0099054	Process	Presynapse assembly	IMP	21926414
GO:0099151	Process	Regulation of postsynaptic density assembly	IEA
GO:0099537	Process	Trans-synaptic signaling	IEA
GO:0099545	Process	Trans-synaptic signaling by trans-synaptic complex	IDA	21926414
GO:0099545	Process	Trans-synaptic signaling by trans-synaptic complex	IMP	21926414
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
GO:0099560	Process	Synaptic membrane adhesion	ISS

Other IDs

• MIM: 601598
• HGNC: 9668
• e!Ensembl: ENSG00000153707

Protein

• UniProt ID: P23468
• Protein name: Receptor-type tyrosine-protein phosphatase delta (Protein-tyrosine phosphatase delta) (R-PTP-delta) (EC 3.1.3.48)
• Protein function: Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2. {ECO:0000250|UniProtKB:
• PDB: 1X5Z, 2DLH, 2YD6, 2YD7, 4RCA, 5WY8, 5XNP, 6X3A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	24 → 115	Immunoglobulin I-set domain	Domain
  PF07679	I-set	126 → 225	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	235 → 306		Domain
  PF00041	fn3	324 → 405	Fibronectin type III domain	Domain
  PF00041	fn3	419 → 504	Fibronectin type III domain	Domain
  PF00041	fn3	517 → 597	Fibronectin type III domain	Domain
  PF00041	fn3	611 → 699	Fibronectin type III domain	Domain
  PF00041	fn3	713 → 812	Fibronectin type III domain	Domain
  PF00041	fn3	825 → 907	Fibronectin type III domain	Domain
  PF00041	fn3	920 → 1006	Fibronectin type III domain	Domain
  PF00102	Y_phosphatase	1380 → 1611	Protein-tyrosine phosphatase	Domain
  PF00102	Y_phosphatase	1669 → 1902	Protein-tyrosine phosphatase	Domain

• Sequence:

  MVHVARLLLLLLTFFLRTDAETPPRFTRTPVDQTGVSGGVASFICQATGDPRPKIVWNKK
  GKKVSNQRFEVIEFDDGSGSVLRIQPLRTPRDEAIYECVASNNVGEISVSTRLTVLREDQ
  IPRGFPTIDMGPQLKVVERTRTATMLCAASGNPDPEITWFKDFLPVDTSNNNGRIKQLRS
  ESIGGTPIRGALQIEQSEESDQGKYECVATNSAGTRYSAPANLYVRELREVRRVPPRFSI
  PPTNHEIMPGGSVNITCVAVGSPMPYVKWMLGAEDLTPEDDMPIGRNVLELNDVRQSANY
  TCVAMSTLGVIEAIAQITVKALPKPPGTPVVTESTATSITLTWDSGNPEPVSYYIIQHKP
  KNSEELYKEIDGVATTRYSVAGLSPYSDYEFRVVAVNNIGRGPPSEPVLTQTSEQAPSSA
  PRDVQARMLSSTTILVQWKEPEEPNGQIQGYRVYYTMDPTQHVNNWMKHNVADSQITTIG
  NLVPQKTYSVKVLAFTSIGDGPLSSDIQVITQTGVPGQPLNFKAEPESETSILLSWTPPR
  SDTIANYELVYKDGEHGEEQRITIEPGTSYRLQGLKPNSLYYFRLAARSPQGLGASTAEI
  SARTMQSKPSAPPQDISCTSPSSTSILVSWQPPPVEKQNGIITEYSIKYTAVDGEDDKPH
  EILGIPSDTTKYLLEQLEKWTEYRITVTAHTDVGPGPESLSVLIRTNEDVPSGPPRKVEV
  EAVNSTSVKVSWRSPVPNKQHGQIRGYQVHYVRMENGEPKGQPMLKDVMLADAQWEFDDT
  TEHDMIISGLQPETSYSLTVTAYTTKGDGARSKPKLVSTTGAVPGKPRLVINHTQMNTAL
  IQWHPPVDTFGPLQGYRLKFGRKDMEPLTTLEFSEKEDHFTATDIHKGASYVFRLSARNK
  VGFGEEMVKEISIPEEVPTGFPQNLHSEGTTSTSVQLSWQPPVLAERNGIITKYTLLYRD
  INIPLLPMEQLIVPADTTMTLTGLKPDTTYDVKVRAHTSKGPGPYSPSVQFRTLPVDQVF
  AKNFHVKAVMKTSVLLSWEIPENYNSAMPFKILYDDGKMVEEVDGRATQKLIVNLKPEKS
  YSFVLTNRGNSAGGLQHRVTAKTAPDVLRTKPAFIGKTNLDGMITVQLPEVPANENIKGY
  YIIIVPLKKSRGKFIKPWESPDEMELDELLKEISRKRRSIRYGREVELKPYIAAHFDVLP
  TEFTLGDDKHYGGFTNKQLQSGQEYVFFVLAVMEHAESKMYATSPYSDPVVSMDLDPQPI
  TDEEEGLIWVVGPVLAVVFIICIVIAILLYKRKRAESDSRKSSIPNNKEIPSHHPTDPVE
  LRRLNFQTPGMASHPPIPILELADHIERLKANDNLKFSQEYESIDPGQQFTWEHSNLEVN
  KPKNRYANVIAYDHSRVLLSAIEGIPGSDYVNANYIDGYRKQNAYIATQGSLPETFGDFW
  RMIWEQRSATVVMMTKLEERSRVKCDQYWPSRGTETHGLVQVTLLDTVELATYCVRTFAL
  YKNGSSEKREVRQFQFTAWPDHGVPEHPTPFLAFLRRVKTCNPPDAGPMVVHCSAGVGRT
  GCFIVIDAMLERIKHEKTVDIYGHVTLMRAQRNYMVQTEDQYIFIHDALLEAVTCGNTEV
  PARNLYAYIQKLTQIETGENVTGMELEFKRLASSKAHTSRFISANLPCNKFKNRLVNIMP
  YESTRVCLQPIRGVEGSDYINASFIDGYRQQKAYIATQGPLAETTEDFWRMLWEHNSTIV
  VMLTKLREMGREKCHQYWPAERSARYQYFVVDPMAEYNMPQYILREFKVTDARDGQSRTV
  RQFQFTDWPEQGVPKSGEGFIDFIGQVHKTKEQFGQDGPISVHCSAGVGRTGVFITLSIV
  LERMRYEGVVDIFQTVKMLRTQRPAMVQTEDQYQFSYRAALEYLGSFDHYAT

• Sequence length: 1912

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Receptor-type tyrosine-protein phosphatases
Synaptic adhesion-like molecules

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSHIDROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODIC LIMB MOVEMENT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTPRD-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOPENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	19074898, 25113440		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	25189415		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35627222, 36553611	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18414509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	20816195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	35982066	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	19546859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19546859	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	19546859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	19546859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18507500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	26474282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	25570853	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	25412184	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22326833, 28159835	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	35641209	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20073072		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21387281	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17420988, 28099906	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19131950	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25113440	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18507500, 21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18507500, 21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23975090	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24475022		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23069849		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	22216278		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22216278	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	30427231		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	25119929	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31088393	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21767287		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	27738328	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20174558, 23147557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21767287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23147557, 26168825, 26292654, 27738328, 33706321	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	20174558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	20174558, 21647700, 23300278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23147557, 26168825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25189415		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30427231		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29608257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	29608257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	33436679	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	GWASCAT_DG	23962720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	23962720	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ewings sarcoma	Ewing sarcoma	BEFREE	25119929		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	25412184		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19074898, 25113440, 31278746		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19478061	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25113440, 33470396	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19074898, 19478061, 24843164, 31278746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	19478061	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	GWASCAT_DG	22179738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26267899	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	21767287		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26425837	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21767287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	31088393	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASCAT_DG	29531279		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26674333		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	34299935	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	21213369, 28345455		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	28322283	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25831062		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	28159835	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17420988, 19478061	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20073072	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	27335277	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27622933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26474282		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29608257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19478061, 20073072		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17363583, 24843164, 25831062, 28345455		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19074898, 22250051, 25113440		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25113440, 25393105, 35603359, 35798829	Associate	★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	19546859		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	29187730	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	27335277		★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	GWASCAT_DG	23049088		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	21285061		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	28345455		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16585193, 17674361, 18050303, 19074898, 20073072, 21213369, 23026210, 23404381, 24843164, 25412184, 25831062, 26235493, 28345455, 7981622		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	GWASCAT_DG	31263063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	16585193, 18050303		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17420988, 22305495, 22367537, 23991058	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22121227	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28497593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASCAT_DG	31311600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-obstructive azoospermia	Non-obstructive azoospermia	GWASDB_DG	22197933		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15994928		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36812308	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	35982066	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Cyst	Pancreatic cyst	Pubtator	31576098	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26755275, 28099906	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	GWASCAT_DG	26545240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	18660810, 19444530, 19546859, 21264940, 21285061, 24433515, 29033051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Restless Legs Syndrome	LHGDN	18660810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Restless Legs Syndrome	CTD_human_DG	18660810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Restless Legs Syndrome	GWASDB_DG	18660810, 21779176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Restless Legs Syndrome	GWASCAT_DG	18660810, 21779176, 29029846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	19546859, 21264940, 21572129, 24293752, 25817513	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	23800680, 25119929	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23962720	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	15994928		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35641209	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17420988		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17420988		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23026210		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26267899, 27501229, 28345455	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	22052591		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20331625, 25412184, 28426752	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31805999	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32151175	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33221763	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	19525478	Associate	★☆☆☆☆ Found in Text Mining only