DFKI-SLT/GDA · Datasets at Hugging Face

NofPmids float64 1 96 ⌀	NofSnps float64 0 1.07k ⌀	associationType stringclasses 3 values	diseaseId stringlengths 8 12	diseaseName stringclasses 587 values	diseaseType stringclasses 3 values	disease_mention stringlengths 1 89	geneId stringlengths 1 30	geneSymbol stringlengths 2 10 ⌀	gene_mention stringlengths 2 69	originalSource stringclasses 1 value	pmid int64 104k 28.2M	raw_sentence stringlengths 39 1.09k	score float64 0.2 1 ⌀	sentence stringlengths 143 948 ⌀	source stringclasses 9 values
null	null	Negative	MESH:D010003	null	null	OA	60628	null	SDF-1 receptor	null	28,131,784	The OA rats received continuous infusion of AMD3100 (SDF-1 receptor blocker) in osmotic mini-pump implanted subcutaneously for 6 weeks.	null	null	null
6	0	Biomarker	C0017665	Membranous glomerulonephritis	disease	membranous nephropathy	213	ALB	serum albumin	CTD_human	15,385,633	Mouse model of membranous nephropathy induced by cationic bovine serum albumin: antigen dose-response relations and strain differences.	0.201648	Mouse model of <span class="disease" id="15385633-0-15-37">membranous nephropathy</span> induced by cationic bovine <span class="gene" id="15385633-0-65-78">serum albumin</span>: antigen dose-response relations and strain differences.	CTD_human
null	null	Negative	MESH:D052256	null	null	tendinopathy	4312;4314	null	MMP-1 and -3	null	28,091,588	HMW-HA attenuated tendinopathy by downregulating MMP-1 and -3 expression.	null	null	null
64	0	Biomarker	C0002871	Anemia	disease	anemia	2056	EPO	Erythropoietin	CTD_human	15,160,343	Erythropoietin is effective in improving the anemia induced by imatinib mesylate therapy in patients with chronic myeloid leukemia in chronic phase.	0.24092	<span class="gene" id="15160343-0-0-14">Erythropoietin</span> is effective in improving the <span class="disease" id="15160343-0-45-51">anemia</span> induced by imatinib mesylate therapy in patients with chronic myeloid leukemia in chronic phase.	CTD_human
null	null	Negative	OMIM:135300	null	null	HGF	6401	null	E-Selectin	null	28,023,369	Plasma CAF analyses from phase II and III studies previously identified candidates (HGF, IL-6, IL-8, TIMP-1, VEGF, E-Selectin and OPN) that significantly correlated with PFS for patients receiving pazopanib (ASCO 2010, #4522).	null	null	null
3	3	Biomarker	C0033860	Psoriasis	disease	psoriasis	10758	TRAF3IP2	TRAF3IP2	CTD_human	20,953,186	Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.	0.207561	Common variants at <span class="gene" id="20953186-0-19-27">TRAF3IP2</span> are associated with susceptibility to psoriatic arthritis and <span class="disease" id="20953186-0-90-99">psoriasis</span>.	CTD_human
13	0	Biomarker	C0028754	Obesity	disease	Obese	3952	LEP	leptin	CTD_human	23,839,791	Obese leptin deficient (ob/ob) mice are a model of adiposity that displays increased levels of fat, glucose, and liver lipids.	0.72	<span class="disease" id="23839791-1-0-5">Obese</span> <span class="gene" id="23839791-1-6-12">leptin</span> deficient (ob/ob) mice are a model of adiposity that displays increased levels of fat, glucose, and liver lipids.	CTD_human;HPO
35	277	Biomarker	C0035372	Rett Syndrome	disease	Rett syndrome	4204	MECP2	MeCP2	CTD_human	22,532,851	Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome.	0.92	Alterations of gene expression and glutamate clearance in astrocytes derived from an <span class="gene" id="22532851-0-85-90">MeCP2</span>-null mouse model of <span class="disease" id="22532851-0-111-124">Rett syndrome</span>.	CTD_human;ORPHANET;UNIPROT
40	0	Biomarker	C1458155	Mammary Neoplasms	group	breast tumors	2064	ERBB2	ERBB2	CTD_human	19,075,277	mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.	0.369628	mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, <span class="gene" id="19075277-3-62-67">ERBB2</span>, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive <span class="disease" id="19075277-3-142-155">breast tumors</span> using quantitative reverse-transcriptase polymerase chain reaction.	CTD_human
1	0	Biomarker	C0014175	Endometriosis	disease	endometriosis	231	AKR1B1	AKR1B1	CTD_human	25,446,850	These cell models characterized in this study will enable further investigations into the role of PGF2? in the pathophysiology of endometriosis and the involvement of AKR1B1 and AKR1C3.	0.200275	These cell models characterized in this study will enable further investigations into the role of PGF2α in the pathophysiology of <span class="disease" id="25446850-12-130-143">endometriosis</span> and the involvement of <span class="gene" id="25446850-12-167-173">AKR1B1</span> and AKR1C3.	CTD_human
null	null	Negative	MESH:D009362	null	null	metastasis	12505	null	CD44	null	28,098,914	miR-647 also reduced the expression levels of genes associated with proliferation and metastasis in tumors, including ANK2, FAK, MMP2, MMP12, CD44 and SNAIL1.	null	null	null
null	null	Negative	MESH:D017827	null	null	wild-type	3934	null	LCN2	null	28,070,126	At a time corresponding to peak LCN2 induction in wild-type (WT) mice injected with LPS, Lcn2-/- mice challenged with LPS had exacerbated levels of pro-inflammatory cytokines and exhibited significantly worsened behavioral phenotypes.	null	null	null
null	null	Negative	MESH:D009369	null	null	cancer	18746	null	PK subtype M2	null	28,021,856	PK subtype M2 (PKM2), which is over expressed in cancer cells, facilitates the Warburg effect by switching from a highly active tetrameric form to low activity monomeric or dimeric forms.	null	null	null
8	0	Biomarker	C0043049	Water Intoxication	disease	Water intoxication	5020	OXT	oxytocin	CTD_human	803,783	Water intoxication associated with oxytocin administration during saline-induced abortion.	0.2	<span class="disease" id="803783-0-0-18">Water intoxication</span> associated with <span class="gene" id="803783-0-35-43">oxytocin</span> administration during saline-induced abortion.	CTD_human
null	null	Negative	MESH:D030342	null	null	recessive disorder	7840	null	ALMS1	null	28,112,973	BACKGROUND: Alstr m syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene.	null	null	null
null	null	Negative	MESH:D009369	null	null	cancer	644914	null	p21	null	28,052,040	Furthermore, AICAR treatment increased RORa recruitment on the promoters of tumor suppressor genes (i.e., FBXM7, SEMA3F and p21) leading to apoptosis in human gastric cancer cells.	null	null	null
null	null	Negative	MESH:D013274	null	null	GC	11487	null	ADAM10	null	28,160,627	Among candidate proteases associated with the generation of sIL-11R, ADAM10 and the related metalloprotease ADAM17 were significantly upregulated in tumours of both gp130(F/F) mice and GC patients compared to matched non-tumour tissues.	null	null	null
null	null	Negative	MESH:D011475	null	null	OS	6863	null	neurokinin A	null	28,022,660	Demographic, serial pre- and post-Rx (1,6,12,18 mos) Karnofsky performance status (KPS), biochemical (5-HIAA, chromogranin A, pancreastatin, neurokinin A [NKA]) and radiographic response data were collected and OS, PFS and BR calculated.	null	null	null
null	null	Negative	MESH:D006453	null	null	hemoglobinopathies	53335	null	BCL11A	null	28,053,695	In this study we analyzed BCL11A, GATA-1, KLF-1 genes and y-globin promoter in 60 alleles from 30 hemoglobinopathies patients under HU treatment to assess the role of these markers in HU response.	null	null	null
null	null	Negative	MESH:D016411	null	null	peripheral T-cell lymphoma	397603	null	isocitrate dehydrogenase 2	null	28,157,189	UNASSIGNED: Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified.	null	null	null
null	null	Negative	MESH:D030342	null	null	inherited lysosomal storage disorder	3783	null	KCa3.1	null	28,197,106	Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD).	null	null	null
null	null	Negative	MESH:C535607	null	null	AGS	7415	null	VCP	null	28,032,027	Knock-down of VCP by siRNA enhanced sensitivity to TRAIL in AGS cells.	null	null	null
null	null	Negative	MESH:D007787	null	null	hypolactasia	3938	null	lactase	null	28,156,353	Objectives The frequency of adult-type hypolactasia (lactase non-persistence) varies widely among different ethnic groups.	null	null	null
null	null	Negative	MESH:D003920	null	null	diabetic	22340	null	VEGF-B	null	28,091,556	However, the contribution and mechanism of VEGF-B in diabetic peripheral neuropathy remains unclear.	null	null	null
2	0	Biomarker	C0524620	Metabolic Syndrome X	disease	metabolic syndrome	79661	NEIL1	NEIL1	CTD_human	16,446,448	The metabolic syndrome resulting from a knockout of the NEIL1 DNA glycosylase.	0.200275	The <span class="disease" id="16446448-0-4-22">metabolic syndrome</span> resulting from a knockout of the <span class="gene" id="16446448-0-56-61">NEIL1</span> DNA glycosylase.	CTD_human
null	null	Negative	MESH:D014923	null	null	WAS	19241	null	thymosin beta 4, X-linked	null	28,159,933	An analysis of the underlying mechanism revealed that the simultaneous inhibition of tumor growth and metastasis mediated by miR-1 was due to the synchronous targeting of 6 miR-1 target genes encoding cyclin dependent kinase 4, twinfilin actin binding protein 1, calponin 3, coronin 1C, WAS protein family member 2 and thymosin beta 4, X-linked.	null	null	null
1	0	Biomarker	C0002395	Alzheimer's Disease	disease	AD	23621	BACE1	BACE1	CTD_human	16,407,166	Our data strongly support a major role of PPARgamma in the modulation of amyloid-beta generation by inflammation and suggest that the protective mechanism of NSAIDs in AD involves activation of PPARgamma and decreased BACE1 gene transcription.	0.364253	Our data strongly support a major role of PPARgamma in the modulation of amyloid-beta generation by inflammation and suggest that the protective mechanism of NSAIDs in <span class="disease" id="16407166-11-168-170">AD</span> involves activation of PPARgamma and decreased <span class="gene" id="16407166-11-218-223">BACE1</span> gene transcription.	CTD_human
2	0	Biomarker	C0007194	Hypertrophic Cardiomyopathy	disease	hypertrophic cardiomyopathy	5894	RAF1	RAF1	CTD_human	17,603,483	Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.	0.405755	Gain-of-function <span class="gene" id="17603483-0-17-21">RAF1</span> mutations cause Noonan and LEOPARD syndromes with <span class="disease" id="17603483-0-72-99">hypertrophic cardiomyopathy</span>.	CTD_human;HPO
null	null	Negative	MESH:D009422	null	null	Neuropathy target esterase	50767	null	PNPLA6	null	28,206,686	Neuropathy target esterase (NTE) or patatin-like phospholipase domain containing 6 (PNPLA6) was first linked with a neuropathy occurring after organophosphate poisoning and was later also found to cause complex syndromes when mutated, which can include mental retardation, spastic paraplegia, ataxia, and blindness.	null	null	null
null	null	Negative	MESH:D008380	null	null	Marek's disease	406947	null	miR-155	null	28,113,043	We also showed that v-rel could rescue the suppression of miR-155 expression observed in Marek's disease virus (MDV)-transformed cell lines, where its functional viral homologue MDV-miR-M4 is overexpressed.	null	null	null
null	null	Negative	MESH:D013167	null	null	AS	4772	null	NFATc1	null	28,191,455	However, we observed low expression of CSF1R, RANK, and NFATc1 in AS OCPs.	null	null	null
null	null	Negative	MESH:C531844	null	null	glycoprotein-Ib/IX-von Willebrand factor axis	11093	null	ADAMTS13	null	28,110,841	Promising agents under evaluation include N-acetylcysteine, bortezomib, recombinant ADAMTS13 and caplacizumab, an inhibitor of the glycoprotein-Ib/IX-von Willebrand factor axis.	null	null	null
1	0	Biomarker	C2239176	Liver carcinoma	disease	hepatocellular carcinoma	8660	IRS2	insulin receptor substrate-2	CTD_human	16,127,164	Overexpression of insulin receptor substrate-2 in human and murine hepatocellular carcinoma.	0.200824	Overexpression of <span class="gene" id="16127164-0-18-46">insulin receptor substrate-2</span> in human and murine <span class="disease" id="16127164-0-67-91">hepatocellular carcinoma</span>.	CTD_human
4	1	Therapeutic	C0004153	Atherosclerosis	disease	atherosclerosis	3949	LDLR	LDLR	CTD_human	11,947,894	Male LDLR-KO mice fed a high cholesterol (HC; 1%) diet developed atherosclerosis at 8 months of age with hypercholesterolemia.	0.261876	Male <span class="gene" id="11947894-3-5-9">LDLR</span>-KO mice fed a high cholesterol (HC; 1%) diet developed <span class="disease" id="11947894-3-65-80">atherosclerosis</span> at 8 months of age with hypercholesterolemia.	CTD_human
null	null	Negative	MESH:D000592	null	null	AA	100037690	null	PCK1	null	28,179,229	In liver, AA infusion tended to increase PCK1 gluconeogenic gene and PCK1 correlated with plasma cortisol concentrations.	null	null	null
2	0	Biomarker	C0027051	Myocardial Infarction	disease	myocardial infarction	2730	GCLM	glutamate-cysteine ligase modifier subunit	CTD_human	12,081,989	Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction.	0.208096	Polymorphism in the 5'-flanking region of human <span class="gene" id="12081989-0-48-90">glutamate-cysteine ligase modifier subunit</span> gene is associated with <span class="disease" id="12081989-0-115-136">myocardial infarction</span>.	CTD_human
null	null	Negative	MESH:D030342	null	null	autosomal recessive disorder	2548	null	glycogen-hydrolyzing enzyme acid a-glucosidase	null	28,185,884	BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid a-glucosidase (GAA).	null	null	null
25	0	Biomarker	C0004153	Atherosclerosis	disease	atherosclerosis	348	APOE	apolipoprotein E	CTD_human	21,908,651	Now, we tested the hypothesis that activation of TRPV1 channels attenuates atherosclerosis in apolipoprotein E knockout mice (ApoE(-/-)) but not ApoE(-/-)TRPV1(-/-) double knockout mice on a high-fat diet.	0.587329	Now, we tested the hypothesis that activation of TRPV1 channels attenuates <span class="disease" id="21908651-2-75-90">atherosclerosis</span> in <span class="gene" id="21908651-2-94-110">apolipoprotein E</span> knockout mice (ApoE(-/-)) but not ApoE(-/-)TRPV1(-/-) double knockout mice on a high-fat diet.	CTD_human;HPO
68	0	Biomarker	C0020538	Hypertensive disease	group	arterial hypertension	5443	POMC	ACTH	CTD_human	6,088,243	Based on the various biological effects of ACTH different explanations are proposed: oedema or deposition of glycogen in the myocardial tissue, hyperinsulinism, arterial hypertension and increased inotropic stimulus.	0.203846	Based on the various biological effects of <span class="gene" id="6088243-8-43-47">ACTH</span> different explanations are proposed: oedema or deposition of glycogen in the myocardial tissue, hyperinsulinism, <span class="disease" id="6088243-8-161-182">arterial hypertension</span> and increased inotropic stimulus.	CTD_human
null	null	Negative	MESH:D030342	null	null	several inherited disorders	5728	null	PTEN	null	28,021,411	Moreover glioblastoma can be related with several inherited disorders that also predispose towards breast cancer, including Li-Fraumeni (p53 mutation) and Cowden (PTEN mutation) syndromes.	null	null	null
1	0	Biomarker	C0004096	Asthma	disease	asthmatic	3557	IL1RN	IL-1 ra	CTD_human	9,176,529	Effect of inhaled glucocorticoids on IL-1 beta and IL-1 receptor antagonist (IL-1 ra) expression in asthmatic bronchial epithelium.	0.234914	Effect of inhaled glucocorticoids on IL-1 beta and IL-1 receptor antagonist (<span class="gene" id="9176529-0-77-84">IL-1 ra</span>) expression in <span class="disease" id="9176529-0-100-109">asthmatic</span> bronchial epithelium.	CTD_human
24	0	Biomarker	C0002736	Amyotrophic Lateral Sclerosis	disease	ALS	6647	SOD1	superoxide dismutase 1	CTD_human	23,583,883	The aim of the work was (1) investigating on gender-dependence of disease progression in the standard model for ALS - the transgenic mouse bearing superoxide dismutase 1 gene mutations - and (2) assessing if a P2X7 receptor antagonist treatment should take into account sexual dimorphism.	0.798512	The aim of the work was (1) investigating on gender-dependence of disease progression in the standard model for <span class="disease" id="23583883-6-112-115">ALS</span> - the transgenic mouse bearing <span class="gene" id="23583883-6-147-169">superoxide dismutase 1</span> gene mutations - and (2) assessing if a P2X7 receptor antagonist treatment should take into account sexual dimorphism.	CTD_human;HPO;ORPHANET
1	0	Biomarker	C0036572	Seizures	phenotype	seizure	5066	PAM	PAM	CTD_human	19,815,072	Using mice heterozygous for peptidylglycine alpha-amidating monooxygenase (PAM), a cuproenzyme essential for the synthesis of many neuropeptides, we identified alterations in anxiety-like behavior, thermoregulation and seizure sensitivity.	0.2	Using mice heterozygous for <span class="gene" id="19815072-4-28-73">peptidylglycine alpha-amidating monooxygenase</span> (<span class="gene" id="19815072-4-75-78">PAM</span>), a cuproenzyme essential for the synthesis of many neuropeptides, we identified alterations in anxiety-like behavior, thermoregulation and <span class="disease" id="19815072-4-219-226">seizure</span> sensitivity.	CTD_human
1	0	Biomarker	C0035334	Retinitis Pigmentosa	disease	retinitis pigmentosa	57096	RPGRIP1	RPGRIP1	CTD_human	16,272,259	Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.	0.404931	Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and <span class="gene" id="16272259-0-67-74">RPGRIP1</span> genes in patients with juvenile <span class="disease" id="16272259-0-107-127">retinitis pigmentosa</span>.	CTD_human;ORPHANET
null	null	Negative	MESH:D006528	null	null	hepatocellular carcinoma	14734	null	GPC3	null	28,035,433	Recently, we reported that GPC3-targeted CAR-T cells could eradicate hepatocellular carcinoma (HCC) xenografts in mice.	null	null	null
null	null	Negative	MESH:D000013	null	null	right defects	100009224	null	ABP	null	28,095,112	In group ABP, left defects were simply implanted with autogenous bone particles; meanwhile, group ABP-Ti animals had right defects implanted with autogenous bone particle/titanium fiber composites.	null	null	null
1	0	Biomarker	C0027126	Myotonic Dystrophy	disease	myotonic muscular dystrophy	1482	NKX2-5	NKX2-5	CTD_human	18,084,293	RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.	0.200275	RNA toxicity in <span class="disease" id="18084293-0-16-43">myotonic muscular dystrophy</span> induces <span class="gene" id="18084293-0-52-58">NKX2-5</span> expression.	CTD_human
null	null	Negative	MESH:D010146	null	null	pain	16176	null	IL-1b	null	28,054,242	We observed that SFN dose-dependently attenuated CCI-induced pain behavioral hypersensitivity, accompanied by reduction in pro-inflammatory cytokines (TNF-a, IL-1b, IL-6) and upregulation of an anti-inflammatory cytokine (IL-10).	null	null	null
null	null	Negative	MESH:D009369	null	null	tumor	24498	null	IL-6	null	28,005,706	Treatment of CKD+Ca/P/VitD rats with atrasentan reduced vascular calcification, SBP, PP and PWV, macrophage infiltration and expression of IL-1b, IL-6, tumor necrosis factor, calgranulins and osteoblastic markers.	null	null	null
null	null	Negative	MESH:D005671	null	null	double hexamer	81620	null	Cdt1	null	28,191,894	During G1 phase, two Cdt1-Mcm2-7 heptamers are loaded onto each replication origin by the origin-recognition complex (ORC) and Cdc6 to form an inactive MCM double hexamer (DH), but the detailed loading mechanism remains unclear.	null	null	null
1	0	Biomarker	C0006845	Candidiasis, Chronic Mucocutaneous	disease	chronic mucocutaneous candidiasis	6772	STAT1	STAT1	CTD_human	21,714,643	STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.	0.40522	<span class="gene" id="21714643-0-0-5">STAT1</span> mutations in autosomal dominant <span class="disease" id="21714643-0-38-71">chronic mucocutaneous candidiasis</span>.	CTD_human;HPO
6	7	Biomarker	C0221036	Acrodermatitis enteropathica	disease	acrodermatitis enteropathica	55630	SLC39A4	SLC39A4	CTD_human	12,068,297	Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.	0.684396	Identification of <span class="gene" id="12068297-0-18-25">SLC39A4</span>, a gene involved in <span class="disease" id="12068297-0-46-74">acrodermatitis enteropathica</span>.	CTD_human;ORPHANET;UNIPROT
3	0	Biomarker	C0079541	Holoprosencephaly	disease	holoprosencephaly	6469	SHH	sonic hedgehog	CTD_human	17,525,797	Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.	0.433105	Gas1 is a modifier for <span class="disease" id="17525797-0-23-40">holoprosencephaly</span> and genetically interacts with <span class="gene" id="17525797-0-72-86">sonic hedgehog</span>.	CTD_human;HPO
null	null	Negative	MESH:D000699	null	null	analgesia	8600	null	RANKL	null	28,044,198	By inhibiting prostaglandin synthesis, meloxicam seems to downregulate hPDL-mediated inflammation, RANKL-induced osteoclastogenesis and, consequently, tooth movement velocity by about 50%, thus limiting its suitability for analgesia during orthodontic therapy.	null	null	null
null	null	Negative	MESH:D019305	null	null	Centrotemporal Spikes	100379198	null	BECTS	null	28,209,266	Children with Benign Epilepsy with Centrotemporal Spikes (BECTS), despite high likelihood for seizure remission, are reported to have subtle difficulties in language and other cognitive skills.	null	null	null
1	0	Therapeutic	C0020538	Hypertensive disease	group	hypertension	3816	KLK1	tissue kallikrein	CTD_human	14,568,997	Gene therapy with human tissue kallikrein reduces hypertension and hyperinsulinemia in fructose-induced hypertensive rats.	0.226487	Gene therapy with human <span class="gene" id="14568997-0-24-41">tissue kallikrein</span> reduces <span class="disease" id="14568997-0-50-62">hypertension</span> and hyperinsulinemia in fructose-induced hypertensive rats.	CTD_human
null	null	Negative	MESH:D017827	null	null	type	27344	null	pen	null	28,072,690	UNASSIGNED: This study is conducted to investigate efficacy of an insulin jet injector and an insulin pen in treatment of type 2 diabetic patients.	null	null	null
3	0	Biomarker	C0342731	Deficiency of mevalonate kinase	disease	HIDS	4598	MVK	MVK	CTD_human	10,369,261	Subsequent analysis of cells from four unrelated HIDS patients revealed reduced activities of mevalonate kinase (MK; encoded by the gene MVK), a key enzyme of isoprenoid biosynthesis.	0.413121	Subsequent analysis of cells from four unrelated <span class="disease" id="10369261-4-49-53">HIDS</span> patients revealed reduced activities of <span class="gene" id="10369261-4-94-111">mevalonate kinase</span> (MK; encoded by the gene <span class="gene" id="10369261-4-137-140">MVK</span>), a key enzyme of isoprenoid biosynthesis.	CTD_human;ORPHANET
2	0	Biomarker	C2239176	Liver carcinoma	disease	hepatocellular carcinoma	2305	FOXM1	FoxM1	CTD_human	17,173,139	A cell-penetrating ARF peptide inhibitor of FoxM1 in mouse hepatocellular carcinoma treatment.	0.286593	A cell-penetrating ARF peptide inhibitor of <span class="gene" id="17173139-0-44-49">FoxM1</span> in mouse <span class="disease" id="17173139-0-59-83">hepatocellular carcinoma</span> treatment.	CTD_human
2	0	Biomarker	C0019189	Hepatitis, Chronic	disease	chronic hepatitis	150684	COMMD1	COMMD1	CTD_human	22,879,914	COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis.	0.200549	<span class="gene" id="22879914-0-0-6">COMMD1</span>-deficient dogs accumulate copper in hepatocytes and provide a good model for <span class="disease" id="22879914-0-84-101">chronic hepatitis</span> and fibrosis.	CTD_human
null	null	Negative	MESH:D013224	null	null	asthmatic	3662	null	IRF4	null	28,105,134	mRNA expression levels of IL-9, STAT6, and IRF4 in PBMCs from healthy controls and asthmatic patients were detected by reverse transcription-quantitative polymerase chain reaction.	null	null	null
null	null	Negative	MESH:D010282	null	null	PG	14182;14183;14184	null	Fgfr1-3	null	28,094,278	Here, we examined the effects of Fgfr1-3, aKlotho, or Fgfr1-4 ablation specifically in the PG (conditional knockout, cKO).	null	null	null
2	0	Biomarker	C0038220	Status Epilepticus	disease	status epilepticus	4803	NGF	NGF	CTD_human	8,821,376	Cellular hybridization for BDNF, trkB, and NGF mRNAs and BDNF-immunoreactivity in rat forebrain after pilocarpine-induced status epilepticus.	0.2	Cellular hybridization for BDNF, trkB, and <span class="gene" id="8821376-0-43-46">NGF</span> mRNAs and BDNF-immunoreactivity in rat forebrain after pilocarpine-induced <span class="disease" id="8821376-0-122-140">status epilepticus</span>.	CTD_human
null	null	Negative	MESH:D014842	null	null	von Willebrand	7450	null	VWF	null	28,135,035	Methods Immunohistochemistry in serial sections along the longitudinal axis of endarterectomies from patients with symptomatic carotid stenosis (n = 19) were studied using an antibody specific for free PAI-1 (I205), an antibody with high affinity for TAFI/TAFIa (CP17) and established antibodies for smooth muscle cells (a-actin), endothelial cells (von Willebrand factor [VWF]), macrophages (CD68) and platelets (CD42).	null	null	null
4	0	Biomarker	C0018801	Heart failure	disease	heart failure	7124	TNF	TNF-alpha	CTD_human	17,337,591	Tumor necrosis factor-alpha (TNF-alpha) is a proinflammatory cytokine that has been implicated in the pathogenesis of heart failure.	0.303871	<span class="gene" id="17337591-1-0-27">Tumor necrosis factor-alpha</span> (<span class="gene" id="17337591-1-29-38">TNF-alpha</span>) is a proinflammatory cytokine that has been implicated in the pathogenesis of <span class="disease" id="17337591-1-118-131">heart failure</span>.	CTD_human
1	0	Biomarker	C0031511	Pheochromocytoma	disease	PHEO	1621	DBH	dopamine ?-hydroxylase	CTD_human	22,569,243	At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine ?-hydroxylase, much more expressed in tumor tissue.	0.200824	At both the protein and mRNA levels, MAOA and COMT are detected less often in <span class="disease" id="22569243-9-78-82">PHEO</span> compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and <span class="gene" id="22569243-9-182-204">dopamine β-hydroxylase</span>, much more expressed in tumor tissue.	CTD_human
1	0	Biomarker	C0007131	Non-Small Cell Lung Carcinoma	disease	non-small cell lung cancer	356	FASLG	FasL	CTD_human	21,807,637	A polymorphic -844T/C in FasL promoter predicts survival and relapse in non-small cell lung cancer.	0.201099	A polymorphic -844T/C in <span class="gene" id="21807637-0-25-29">FasL</span> promoter predicts survival and relapse in <span class="disease" id="21807637-0-72-98">non-small cell lung cancer</span>.	CTD_human
2	0	Biomarker	C0020295	Hydronephrosis	disease	hydronephrosis	9536	PTGES	microsomal prostaglandin E synthase-1	CTD_human	22,430,074	Critical role of microsomal prostaglandin E synthase-1 in the hydronephrosis caused by lactational exposure to dioxin in mice.	0.2	Critical role of <span class="gene" id="22430074-0-17-54">microsomal prostaglandin E synthase-1</span> in the <span class="disease" id="22430074-0-62-76">hydronephrosis</span> caused by lactational exposure to dioxin in mice.	CTD_human
1	0	Biomarker	C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	disease	T-cell acute lymphoblastic leukemia	84295	PHF6	PHF6	CTD_human	20,228,800	PHF6 mutations in T-cell acute lymphoblastic leukemia.	0.201923	<span class="gene" id="20228800-0-0-4">PHF6</span> mutations in <span class="disease" id="20228800-0-18-53">T-cell acute lymphoblastic leukemia</span>.	CTD_human
1	0	Biomarker	C0007760	Cerebellar Diseases	group	cerebellar dysfunction	4842	NOS1	nNOS	CTD_human	25,511,929	Thus, homozygous mutation of the nNOS gene increases vulnerability to alcohol-induced cerebellar dysfunction and neuronal loss. nNOS is the first gene identified whose mutation worsens alcohol-induced cerebellar behavioral deficits.	0.2	Thus, homozygous mutation of the <span class="gene" id="25511929-13-33-37">nNOS</span> gene increases vulnerability to alcohol-induced <span class="disease" id="25511929-13-86-108">cerebellar dysfunction</span> and neuronal loss. nNOS is the first gene identified whose mutation worsens alcohol-induced cerebellar behavioral deficits.	CTD_human
null	null	Negative	MESH:D008107	null	null	liver damage	116637	null	CCl4	null	28,064,552	OBJECTIVE: The present study investigated the hepatoprotective effect and underlying mechanisms of b-aescin in CCl4-induced liver damage.	null	null	null
null	null	Negative	MESH:D000860	null	null	hypoxia	100302167	null	hsa-mir-1299	null	28,074,387	RESULTS: We found that six genes were differentially methylated in the test samples, of which four were linked to ischaemia or hypoxia (REXO1L1, TLR4, hsa-mir-1299, ANKRD2).	null	null	null
1	0	Biomarker	C0007134	Renal Cell Carcinoma	disease	renal cell carcinoma	1381	CRABP1	Cellular retinoic acid binding protein I	CTD_human	16,254,461	Cellular retinoic acid binding protein I: expression and functional influence in renal cell carcinoma.	0.203008	<span class="gene" id="16254461-0-0-40">Cellular retinoic acid binding protein I</span>: expression and functional influence in <span class="disease" id="16254461-0-81-101">renal cell carcinoma</span>.	CTD_human
3	1	Biomarker	C0009952	Febrile Convulsions	disease	febrile seizures	6323	SCN1A	SCN1A	CTD_human	25,362,483	Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy.	0.436791	Recurrent mutations in three main genes (<span class="gene" id="25362483-2-41-46">SCN1A</span>, SCN1B and GABRG2) have been identified that cause <span class="disease" id="25362483-2-98-114">febrile seizures</span> with or without epilepsy.	CTD_human;HPO
2	0	Biomarker	C1956346	Coronary Artery Disease	disease	CAD	7422	VEGFA	VEGF165	CTD_human	14,668,888	Direct myocardial administration of genes encoding VEGF165 can be an effective method of treatment in patients with chronic and advanced CAD either as a supplementary treatment or as a single therapy.	0.23201	Direct myocardial administration of genes encoding <span class="gene" id="14668888-12-51-58">VEGF165</span> can be an effective method of treatment in patients with chronic and advanced <span class="disease" id="14668888-12-137-140">CAD</span> either as a supplementary treatment or as a single therapy.	CTD_human
4	8	Biomarker	C0796135	Renpenning syndrome 1	disease	Renpenning syndrome	10084	PQBP1	PQBP1	CTD_human	15,024,694	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.	0.402473	Novel truncating mutations in the <span class="gene" id="15024694-0-34-71">polyglutamine tract binding protein 1</span> gene (<span class="gene" id="15024694-0-78-83">PQBP1</span>) cause <span class="disease" id="15024694-0-91-110">Renpenning syndrome</span> and X-linked mental retardation in another family with microcephaly.	CTD_human;UNIPROT
35	84	Biomarker	C0022716	Menkes Kinky Hair Syndrome	disease	Menkes disease	538	ATP7A	ATP7A	CTD_human	17,483,305	Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.	0.727934	Phenotypic diversity of <span class="disease" id="17483305-0-24-38">Menkes disease</span> in mottled mice is associated with defects in localisation and trafficking of the <span class="gene" id="17483305-0-121-126">ATP7A</span> protein.	CTD_human;ORPHANET;UNIPROT
12	0	Biomarker	C0030567	Parkinson Disease	disease	PD	5071	PARK2	Park2	CTD_human	24,582,596	Here we have tested in vitro the effect of resveratrol treatment on primary fibroblast cultures from two patients with early-onset PD linked to different Park2 mutations.	0.413846	Here we have tested in vitro the effect of resveratrol treatment on primary fibroblast cultures from two patients with early-onset <span class="disease" id="24582596-5-131-133">PD</span> linked to different <span class="gene" id="24582596-5-154-159">Park2</span> mutations.	CTD_human
null	null	Negative	MESH:C536528	null	null	LPS	7124	null	TNF-a	null	28,138,327	We demonstrate that GM-CSF and IL-3 priming enhances TNF-a production upon subsequent LPS stimulation (short-term model of trained immunity) in a p38- and SIRT2-dependent manner without increasing TNF primary transcript levels (a more direct measure of transcription), thus supporting a posttranscriptional regulation of TNF-a in primed monocytes.	null	null	null
null	null	Negative	MESH:D009410	null	null	neuronal death	216439	null	PIKE	null	28,096,359	Hence, our findings demonstrate that a-synuclein neutralizes PIKE-L's neuroprotective actions in synucleinopathies, triggering dopaminergic neuronal death by hyperactivating AMPK.	null	null	null
2	0	Biomarker	C0022658	Kidney Diseases	group	nephropathy	142	PARP1	PARP-1	CTD_human	20,561,897	Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.	0.2	Here, we show that h<span class="gene" id="20561897-6-20-26">PARP-1</span> mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, <span class="disease" id="20561897-6-210-221">nephropathy</span>, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.	CTD_human
1	0	Biomarker	C0037286	Skin Neoplasms	group	skin tumors	2993	GYPA	GPA	CTD_human	17,029,826	These data demonstrate that arsenic exposure is associated with mutations at the GPA locus, an effect exaggerated in patients bearing arsenic-induced skin tumors.	0.200275	These data demonstrate that arsenic exposure is associated with mutations at the <span class="gene" id="17029826-10-81-84">GPA</span> locus, an effect exaggerated in patients bearing arsenic-induced <span class="disease" id="17029826-10-150-161">skin tumors</span>.	CTD_human
1	0	Biomarker	C0027121	Myositis	disease	myositis	3557	IL1RN	IL-1RN	CTD_human	10,886,238	Because IL-1alpha and IL-1beta, and the anti-inflammatory competitive inhibitor, IL-1 receptor antagonist (IL-1Ra), have been implicated in the pathogenesis of myositis, we assessed the role of variable number tandem repeat (VNTR) polymorphisms of the IL-1Ra gene (IL-1RN) in the aetiology of JIIM: IL-1RN VNTR polymorphisms were performed on 250 JIIM patients and 471 race-matched controls and were correlated with clinical characteristics.	0.200549	Because IL-1alpha and IL-1beta, and the anti-inflammatory competitive inhibitor, IL-1 receptor antagonist (<span class="gene" id="10886238-2-107-113">IL-1Ra</span>), have been implicated in the pathogenesis of <span class="disease" id="10886238-2-160-168">myositis</span>, we assessed the role of variable number tandem repeat (VNTR) polymorphisms of the <span class="gene" id="10886238-2-252-258">IL-1Ra</span> gene (<span class="gene" id="10886238-2-265-271">IL-1RN</span>) in the aetiology of JIIM: <span class="gene" id="10886238-2-299-305">IL-1RN</span> VNTR polymorphisms were performed on 250 JIIM patients and 471 race-matched controls and were correlated with clinical characteristics.	CTD_human
null	null	Negative	MESH:D006623	null	null	VHL	5159	null	PDGFRb	null	28,143,107	The gene probes chosen for this analysis were; VHL, FHIT, FGFR1/3, PDGFb, PDGFRb, EGFR, MYC and IGH@.	null	null	null
null	null	Negative	MESH:D019694	null	null	chronic hepatitis B	3805	null	KIR	null	28,211,154	Fifty-seven subjects with chronic hepatitis B (CHB), 44 subjects with resolved HBV infection and 60 healthy uninfected controls (HC) were genotyped for KIR and their HLA ligands.	null	null	null
null	null	Negative	MESH:D007174	null	null	randomized controlled trials	64805	null	P2Y12	null	28,089,137	METHODS: MEDLINE/PubMed and ClinicalTrials.gov were searched for randomized controlled trials (RCTs) that compared at least two P2Y12 inhibitors including cangrelor, clopidogrel, prasugrel, and ticagrelor.	null	null	null
64	0	Therapeutic	C0002871	Anemia	disease	anemia	2056	EPO	Epo	CTD_human	8,260,696	Administration of a lower Epo dose (1 U Epo) resulted in only a modest retardation of AZT-induced anemia, although, when combined with heme, there was a great improvement in recovery of erythropoiesis.	0.24092	Administration of a lower <span class="gene" id="8260696-4-26-29">Epo</span> dose (1 U <span class="gene" id="8260696-4-40-43">Epo</span>) resulted in only a modest retardation of AZT-induced <span class="disease" id="8260696-4-98-104">anemia</span>, although, when combined with heme, there was a great improvement in recovery of erythropoiesis.	CTD_human
null	null	Negative	MESH:D009369	null	null	tumor	15978	null	IFN-gamma	null	28,136,733	UNASSIGNED: 271 Background: ALT-801, a T-cell receptor/IL-2 fusion protein, activates NK and CD4(+) lymphocytes to secrete IFN-gamma which re-polarizes tumor associated macrophages from M1 to M2 in various murine tumor models.	null	null	null
null	null	Negative	MESH:D013132	null	null	inherited ataxia	110616	null	ATXN3	null	28,157,529	UNASSIGNED: Machado-Joseph disease (MJD) is a dominantly inherited ataxia caused by a polyglutamine-coding expansion in the ATXN3 gene.	null	null	null
null	null	Negative	MESH:D010146	null	null	pain	29650	null	ADAM10	null	28,169,407	Methods: Using the spinal nerve ligation model, we investigated whether ADAM10 proteins participate in pain regulation.	null	null	null
null	null	Negative	MESH:D006509	null	null	Hepatitis B	944566	null	HBx	null	28,212,627	BACKGROUND: The Hepatitis B Virus (HBV) HBx regulatory protein is required for HBV replication and involved in HBV-related carcinogenesis.	null	null	null
null	null	Negative	MESH:D056587	null	null	Cryopyrin-Associated Periodic Syndromes	16176	null	IL-1b	null	28,148,962	Additionally, QUC inhibited IL-1b in Cryopyrin-Associated Periodic Syndromes (CAPS) macrophages, where NLRP3 inflammasome is constitutively activated.	null	null	null
2	0	Biomarker	C0033578	Prostatic Neoplasms	group	prostate tumor	3169	FOXA1	FOXA1	CTD_human	26,457,646	Introduction of FOXA1 and HOXB13 into an immortalized prostate cell line reprogrammed the AR cistrome to resemble that of a prostate tumor, functionally linking these specific factors to AR cistrome reprogramming.	0.203008	Introduction of <span class="gene" id="26457646-6-16-21">FOXA1</span> and HOXB13 into an immortalized prostate cell line reprogrammed the AR cistrome to resemble that of a <span class="disease" id="26457646-6-124-138">prostate tumor</span>, functionally linking these specific factors to AR cistrome reprogramming.	CTD_human
null	null	Negative	MESH:D006332	null	null	obesity-related cardiac hypertrophy	26416	null	p38 MAPK	null	28,158,919	Obesity often leads to obesity-related cardiac hypertrophy (ORCH), which is suppressed by zinc-induced inactivation of p38 mitogen-activated protein kinase (p38 MAPK).	null	null	null
null	null	Negative	MESH:D049914	null	null	deficient homologous repair	472;672;675	null	BRCA1/2 and ATM	null	28,022,799	PARP inhibition enhances chemotherapy and induces cell death by synthetic lethality in patients with deficient homologous repair (BRCA1/2 and ATM).	null	null	null
69	0	Biomarker	C0020538	Hypertensive disease	group	hypertension	183	AGT	angiotensin II	CTD_human	26,564,064	Role of the Na+/H+ exchanger 3 in angiotensin II-induced hypertension in NHE3-deficient mice with transgenic rescue of NHE3 in small intestines.	0.52	Role of the Na+/H+ exchanger 3 in <span class="gene" id="26564064-0-34-48">angiotensin II</span>-induced <span class="disease" id="26564064-0-57-69">hypertension</span> in NHE3-deficient mice with transgenic rescue of NHE3 in small intestines.	CTD_human
3	21	Biomarker	C0268263	Multiple Sulfatase Deficiency Disease	disease	Multiple sulfatase deficiency	285362	SUMF1	SUMF1	CTD_human	17,657,823	Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.	0.683571	<span class="disease" id="17657823-0-0-29">Multiple sulfatase deficiency</span> is due to hypomorphic mutations of the <span class="gene" id="17657823-0-69-74">SUMF1</span> gene.	CTD_human;ORPHANET;UNIPROT
2	1	Biomarker	C0238358	Hypokalemic periodic paralysis	disease	hypokalemic periodic paralysis	779	CACNA1S	CACNA1S	CTD_human	19,822,448	Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.	0.417265	Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the <span class="gene" id="19822448-0-75-82">CACNA1S</span> gene in a patient with <span class="disease" id="19822448-0-106-136">hypokalemic periodic paralysis</span>.	CTD_human;ORPHANET
2	0	Biomarker	C0028754	Obesity	disease	obesity	3358	HTR2C	HTR2C	CTD_human	17,702,092	Evidence was based on the observation that knock-out mice for the HTR2C receptor gene develop obesity and that many antipsychotics (AP) with potent HTR2C antagonism may induce weight gain in susceptible individuals.	0.226334	Evidence was based on the observation that knock-out mice for the <span class="gene" id="17702092-2-66-71">HTR2C</span> receptor gene develop <span class="disease" id="17702092-2-94-101">obesity</span> and that many antipsychotics (AP) with potent <span class="gene" id="17702092-2-148-153">HTR2C</span> antagonism may induce weight gain in susceptible individuals.	CTD_human
null	null	Negative	MESH:D056486	null	null	hepatic toxicity	116637	null	CCl4	null	28,084,470	At equivalent doses, NCX 6560 eliminated hepatic toxicity and reduced muscular toxicity (60-74%) caused by atorvastatin in the more advanced BDL model; toxicity was minimal in the CCl4 model.	null	null	null

null

Negative

MESH:D010003

null

OA

60628

null

SDF-1 receptor

null

28,131,784

The OA rats received continuous infusion of AMD3100 (SDF-1 receptor blocker) in osmotic mini-pump implanted subcutaneously for 6 weeks.

null

6

0

Biomarker

C0017665

Membranous glomerulonephritis

disease

membranous nephropathy

213

ALB

serum albumin

CTD_human

15,385,633

Mouse model of membranous nephropathy induced by cationic bovine serum albumin: antigen dose-response relations and strain differences.

0.201648

Mouse model of membranous nephropathy induced by cationic bovine serum albumin: antigen dose-response relations and strain differences.

CTD_human

null

Negative

MESH:D052256

null

tendinopathy

4312;4314

null

MMP-1 and -3

null

28,091,588

HMW-HA attenuated tendinopathy by downregulating MMP-1 and -3 expression.

null

64

0

Biomarker

C0002871

Anemia

disease

anemia

2056

EPO

Erythropoietin

CTD_human

15,160,343

Erythropoietin is effective in improving the anemia induced by imatinib mesylate therapy in patients with chronic myeloid leukemia in chronic phase.

0.24092

Erythropoietin is effective in improving the anemia induced by imatinib mesylate therapy in patients with chronic myeloid leukemia in chronic phase.

CTD_human

null

Negative

OMIM:135300

null

HGF

6401

null

E-Selectin

null

28,023,369

Plasma CAF analyses from phase II and III studies previously identified candidates (HGF, IL-6, IL-8, TIMP-1, VEGF, E-Selectin and OPN) that significantly correlated with PFS for patients receiving pazopanib (ASCO 2010, #4522).

null

3

Biomarker

C0033860

Psoriasis

disease

psoriasis

10758

TRAF3IP2

CTD_human

20,953,186

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

0.207561

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

CTD_human

13

0

Biomarker

C0028754

Obesity

disease

Obese

3952

LEP

leptin

CTD_human

23,839,791

Obese leptin deficient (ob/ob) mice are a model of adiposity that displays increased levels of fat, glucose, and liver lipids.

0.72

Obese leptin deficient (ob/ob) mice are a model of adiposity that displays increased levels of fat, glucose, and liver lipids.

CTD_human;HPO

35

277

Biomarker

C0035372

Rett Syndrome

disease

Rett syndrome

4204

MECP2

MeCP2

CTD_human

22,532,851

Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome.

0.92

Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome.

CTD_human;ORPHANET;UNIPROT

40

0

Biomarker

C1458155

Mammary Neoplasms

group

breast tumors

2064

ERBB2

CTD_human

19,075,277

mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.

0.369628

mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.

CTD_human

1

0

Biomarker

C0014175

Endometriosis

disease

endometriosis

231

AKR1B1

CTD_human

25,446,850

These cell models characterized in this study will enable further investigations into the role of PGF2? in the pathophysiology of endometriosis and the involvement of AKR1B1 and AKR1C3.

0.200275

These cell models characterized in this study will enable further investigations into the role of PGF2α in the pathophysiology of endometriosis and the involvement of AKR1B1 and AKR1C3.

CTD_human

null

Negative

MESH:D009362

null

metastasis

12505

null

CD44

null

28,098,914

miR-647 also reduced the expression levels of genes associated with proliferation and metastasis in tumors, including ANK2, FAK, MMP2, MMP12, CD44 and SNAIL1.

null

Negative

MESH:D017827

null

wild-type

3934

null

LCN2

null

28,070,126

At a time corresponding to peak LCN2 induction in wild-type (WT) mice injected with LPS, Lcn2-/- mice challenged with LPS had exacerbated levels of pro-inflammatory cytokines and exhibited significantly worsened behavioral phenotypes.

null

Negative

MESH:D009369

null

cancer

18746

null

PK subtype M2

null

28,021,856

PK subtype M2 (PKM2), which is over expressed in cancer cells, facilitates the Warburg effect by switching from a highly active tetrameric form to low activity monomeric or dimeric forms.

null

8

0

Biomarker

C0043049

Water Intoxication

disease

Water intoxication

5020

OXT

oxytocin

CTD_human

803,783

Water intoxication associated with oxytocin administration during saline-induced abortion.

0.2

Water intoxication associated with oxytocin administration during saline-induced abortion.

CTD_human

null

Negative

MESH:D030342

null

recessive disorder

7840

null

ALMS1

null

28,112,973

BACKGROUND: Alstr m syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene.

null

Negative

MESH:D009369

null

cancer

644914

null

p21

null

28,052,040

Furthermore, AICAR treatment increased RORa recruitment on the promoters of tumor suppressor genes (i.e., FBXM7, SEMA3F and p21) leading to apoptosis in human gastric cancer cells.

null

Negative

MESH:D013274

null

GC

11487

null

ADAM10

null

28,160,627

Among candidate proteases associated with the generation of sIL-11R, ADAM10 and the related metalloprotease ADAM17 were significantly upregulated in tumours of both gp130(F/F) mice and GC patients compared to matched non-tumour tissues.

null

Negative

MESH:D011475

null

OS

6863

null

neurokinin A

null

28,022,660

Demographic, serial pre- and post-Rx (1,6,12,18 mos) Karnofsky performance status (KPS), biochemical (5-HIAA, chromogranin A, pancreastatin, neurokinin A [NKA]) and radiographic response data were collected and OS, PFS and BR calculated.

null

Negative

MESH:D006453

null

hemoglobinopathies

53335

null

BCL11A

null

28,053,695

In this study we analyzed BCL11A, GATA-1, KLF-1 genes and y-globin promoter in 60 alleles from 30 hemoglobinopathies patients under HU treatment to assess the role of these markers in HU response.

null

Negative

MESH:D016411

null

peripheral T-cell lymphoma

397603

null

isocitrate dehydrogenase 2

null

28,157,189

UNASSIGNED: Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified.

null

Negative

MESH:D030342

null

inherited lysosomal storage disorder

3783

null

KCa3.1

null

28,197,106

Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD).

null

Negative

MESH:C535607

null

AGS

7415

null

VCP

null

28,032,027

Knock-down of VCP by siRNA enhanced sensitivity to TRAIL in AGS cells.

null

Negative

MESH:D007787

null

hypolactasia

3938

null

lactase

null

28,156,353

Objectives The frequency of adult-type hypolactasia (lactase non-persistence) varies widely among different ethnic groups.

null

Negative

MESH:D003920

null

diabetic

22340

null

VEGF-B

null

28,091,556

However, the contribution and mechanism of VEGF-B in diabetic peripheral neuropathy remains unclear.

null

2

0

Biomarker

C0524620

Metabolic Syndrome X

disease

metabolic syndrome

79661

NEIL1

CTD_human

16,446,448

The metabolic syndrome resulting from a knockout of the NEIL1 DNA glycosylase.

0.200275

The metabolic syndrome resulting from a knockout of the NEIL1 DNA glycosylase.

CTD_human

null

Negative

MESH:D014923

null

WAS

19241

null

thymosin beta 4, X-linked

null

28,159,933

An analysis of the underlying mechanism revealed that the simultaneous inhibition of tumor growth and metastasis mediated by miR-1 was due to the synchronous targeting of 6 miR-1 target genes encoding cyclin dependent kinase 4, twinfilin actin binding protein 1, calponin 3, coronin 1C, WAS protein family member 2 and thymosin beta 4, X-linked.

null

1

0

Biomarker

C0002395

Alzheimer's Disease

disease

AD

23621

BACE1

CTD_human

16,407,166

Our data strongly support a major role of PPARgamma in the modulation of amyloid-beta generation by inflammation and suggest that the protective mechanism of NSAIDs in AD involves activation of PPARgamma and decreased BACE1 gene transcription.

0.364253

Our data strongly support a major role of PPARgamma in the modulation of amyloid-beta generation by inflammation and suggest that the protective mechanism of NSAIDs in AD involves activation of PPARgamma and decreased BACE1 gene transcription.

CTD_human

2

0

Biomarker

C0007194

Hypertrophic Cardiomyopathy

disease

hypertrophic cardiomyopathy

5894

RAF1

CTD_human

17,603,483

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

0.405755

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

CTD_human;HPO

null

Negative

MESH:D009422

null

Neuropathy target esterase

50767

null

PNPLA6

null

28,206,686

Neuropathy target esterase (NTE) or patatin-like phospholipase domain containing 6 (PNPLA6) was first linked with a neuropathy occurring after organophosphate poisoning and was later also found to cause complex syndromes when mutated, which can include mental retardation, spastic paraplegia, ataxia, and blindness.

null

Negative

MESH:D008380

null

Marek's disease

406947

null

miR-155

null

28,113,043

We also showed that v-rel could rescue the suppression of miR-155 expression observed in Marek's disease virus (MDV)-transformed cell lines, where its functional viral homologue MDV-miR-M4 is overexpressed.

null

Negative

MESH:D013167

null

AS

4772

null

NFATc1

null

28,191,455

However, we observed low expression of CSF1R, RANK, and NFATc1 in AS OCPs.

null

Negative

MESH:C531844

null

glycoprotein-Ib/IX-von Willebrand factor axis

11093

null

ADAMTS13

null

28,110,841

Promising agents under evaluation include N-acetylcysteine, bortezomib, recombinant ADAMTS13 and caplacizumab, an inhibitor of the glycoprotein-Ib/IX-von Willebrand factor axis.

null

1

0

Biomarker

C2239176

Liver carcinoma

disease

hepatocellular carcinoma

8660

IRS2

insulin receptor substrate-2

CTD_human

16,127,164

Overexpression of insulin receptor substrate-2 in human and murine hepatocellular carcinoma.

0.200824

Overexpression of insulin receptor substrate-2 in human and murine hepatocellular carcinoma.

CTD_human

4

1

Therapeutic

C0004153

Atherosclerosis

disease

atherosclerosis

3949

LDLR

CTD_human

11,947,894

Male LDLR-KO mice fed a high cholesterol (HC; 1%) diet developed atherosclerosis at 8 months of age with hypercholesterolemia.

0.261876

Male LDLR-KO mice fed a high cholesterol (HC; 1%) diet developed atherosclerosis at 8 months of age with hypercholesterolemia.

CTD_human

null

Negative

MESH:D000592

null

AA

100037690

null

PCK1

null

28,179,229

In liver, AA infusion tended to increase PCK1 gluconeogenic gene and PCK1 correlated with plasma cortisol concentrations.

null

2

0

Biomarker

C0027051

Myocardial Infarction

disease

myocardial infarction

2730

GCLM

glutamate-cysteine ligase modifier subunit

CTD_human

12,081,989

Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction.

0.208096

Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction.

CTD_human

null

Negative

MESH:D030342

null

autosomal recessive disorder

2548

null

glycogen-hydrolyzing enzyme acid a-glucosidase

null

28,185,884

BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid a-glucosidase (GAA).

null

25

0

Biomarker

C0004153

Atherosclerosis

disease

atherosclerosis

348

APOE

apolipoprotein E

CTD_human

21,908,651

Now, we tested the hypothesis that activation of TRPV1 channels attenuates atherosclerosis in apolipoprotein E knockout mice (ApoE(-/-)) but not ApoE(-/-)TRPV1(-/-) double knockout mice on a high-fat diet.

0.587329

Now, we tested the hypothesis that activation of TRPV1 channels attenuates atherosclerosis in apolipoprotein E knockout mice (ApoE(-/-)) but not ApoE(-/-)TRPV1(-/-) double knockout mice on a high-fat diet.

CTD_human;HPO

68

0

Biomarker

C0020538

Hypertensive disease

group

arterial hypertension

5443

POMC

ACTH

CTD_human

6,088,243

Based on the various biological effects of ACTH different explanations are proposed: oedema or deposition of glycogen in the myocardial tissue, hyperinsulinism, arterial hypertension and increased inotropic stimulus.

0.203846

Based on the various biological effects of ACTH different explanations are proposed: oedema or deposition of glycogen in the myocardial tissue, hyperinsulinism, arterial hypertension and increased inotropic stimulus.

CTD_human

null

Negative

MESH:D030342

null

several inherited disorders

5728

null

PTEN

null

28,021,411

Moreover glioblastoma can be related with several inherited disorders that also predispose towards breast cancer, including Li-Fraumeni (p53 mutation) and Cowden (PTEN mutation) syndromes.

null

1

0

Biomarker

C0004096

Asthma

disease

asthmatic

3557

IL1RN

IL-1 ra

CTD_human

9,176,529

Effect of inhaled glucocorticoids on IL-1 beta and IL-1 receptor antagonist (IL-1 ra) expression in asthmatic bronchial epithelium.

0.234914

Effect of inhaled glucocorticoids on IL-1 beta and IL-1 receptor antagonist (IL-1 ra) expression in asthmatic bronchial epithelium.

CTD_human

24

0

Biomarker

C0002736

Amyotrophic Lateral Sclerosis

disease

ALS

6647

SOD1

superoxide dismutase 1

CTD_human

23,583,883

The aim of the work was (1) investigating on gender-dependence of disease progression in the standard model for ALS - the transgenic mouse bearing superoxide dismutase 1 gene mutations - and (2) assessing if a P2X7 receptor antagonist treatment should take into account sexual dimorphism.

0.798512

The aim of the work was (1) investigating on gender-dependence of disease progression in the standard model for ALS - the transgenic mouse bearing superoxide dismutase 1 gene mutations - and (2) assessing if a P2X7 receptor antagonist treatment should take into account sexual dimorphism.

CTD_human;HPO;ORPHANET

1

0

Biomarker

C0036572

Seizures

phenotype

seizure

5066

PAM

CTD_human

19,815,072

Using mice heterozygous for peptidylglycine alpha-amidating monooxygenase (PAM), a cuproenzyme essential for the synthesis of many neuropeptides, we identified alterations in anxiety-like behavior, thermoregulation and seizure sensitivity.

0.2

Using mice heterozygous for peptidylglycine alpha-amidating monooxygenase (PAM), a cuproenzyme essential for the synthesis of many neuropeptides, we identified alterations in anxiety-like behavior, thermoregulation and seizure sensitivity.

CTD_human

1

0

Biomarker

C0035334

Retinitis Pigmentosa

disease

retinitis pigmentosa

57096

RPGRIP1

CTD_human

16,272,259

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.

0.404931

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.

CTD_human;ORPHANET

null

Negative

MESH:D006528

null

hepatocellular carcinoma

14734

null

GPC3

null

28,035,433

Recently, we reported that GPC3-targeted CAR-T cells could eradicate hepatocellular carcinoma (HCC) xenografts in mice.

null

Negative

MESH:D000013

null

right defects

100009224

null

ABP

null

28,095,112

In group ABP, left defects were simply implanted with autogenous bone particles; meanwhile, group ABP-Ti animals had right defects implanted with autogenous bone particle/titanium fiber composites.

null

1

0

Biomarker

C0027126

Myotonic Dystrophy

disease

myotonic muscular dystrophy

1482

NKX2-5

CTD_human

18,084,293

RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.

0.200275

RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.

CTD_human

null

Negative

MESH:D010146

null

pain

16176

null

IL-1b

null

28,054,242

We observed that SFN dose-dependently attenuated CCI-induced pain behavioral hypersensitivity, accompanied by reduction in pro-inflammatory cytokines (TNF-a, IL-1b, IL-6) and upregulation of an anti-inflammatory cytokine (IL-10).

null

Negative

MESH:D009369

null

tumor

24498

null

IL-6

null

28,005,706

Treatment of CKD+Ca/P/VitD rats with atrasentan reduced vascular calcification, SBP, PP and PWV, macrophage infiltration and expression of IL-1b, IL-6, tumor necrosis factor, calgranulins and osteoblastic markers.

null

Negative

MESH:D005671

null

double hexamer

81620

null

Cdt1

null

28,191,894

During G1 phase, two Cdt1-Mcm2-7 heptamers are loaded onto each replication origin by the origin-recognition complex (ORC) and Cdc6 to form an inactive MCM double hexamer (DH), but the detailed loading mechanism remains unclear.

null

1

0

Biomarker

C0006845

Candidiasis, Chronic Mucocutaneous

disease

chronic mucocutaneous candidiasis

6772

STAT1

CTD_human

21,714,643

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

0.40522

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

CTD_human;HPO

6

7

Biomarker

C0221036

Acrodermatitis enteropathica

disease

acrodermatitis enteropathica

55630

SLC39A4

CTD_human

12,068,297

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

0.684396

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

CTD_human;ORPHANET;UNIPROT

3

0

Biomarker

C0079541

Holoprosencephaly

disease

holoprosencephaly

6469

SHH

sonic hedgehog

CTD_human

17,525,797

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.

0.433105

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.

CTD_human;HPO

null

Negative

MESH:D000699

null

analgesia

8600

null

RANKL

null

28,044,198

By inhibiting prostaglandin synthesis, meloxicam seems to downregulate hPDL-mediated inflammation, RANKL-induced osteoclastogenesis and, consequently, tooth movement velocity by about 50%, thus limiting its suitability for analgesia during orthodontic therapy.

null

Negative

MESH:D019305

null

Centrotemporal Spikes

100379198

null

BECTS

null

28,209,266

Children with Benign Epilepsy with Centrotemporal Spikes (BECTS), despite high likelihood for seizure remission, are reported to have subtle difficulties in language and other cognitive skills.

null

1

0

Therapeutic

C0020538

Hypertensive disease

group

hypertension

3816

KLK1

tissue kallikrein

CTD_human

14,568,997

Gene therapy with human tissue kallikrein reduces hypertension and hyperinsulinemia in fructose-induced hypertensive rats.

0.226487

Gene therapy with human tissue kallikrein reduces hypertension and hyperinsulinemia in fructose-induced hypertensive rats.

CTD_human

null

Negative

MESH:D017827

null

type

27344

null

pen

null

28,072,690

UNASSIGNED: This study is conducted to investigate efficacy of an insulin jet injector and an insulin pen in treatment of type 2 diabetic patients.

null

3

0

Biomarker

C0342731

Deficiency of mevalonate kinase

disease

HIDS

4598

MVK

CTD_human

10,369,261

Subsequent analysis of cells from four unrelated HIDS patients revealed reduced activities of mevalonate kinase (MK; encoded by the gene MVK), a key enzyme of isoprenoid biosynthesis.

0.413121

Subsequent analysis of cells from four unrelated HIDS patients revealed reduced activities of mevalonate kinase (MK; encoded by the gene MVK), a key enzyme of isoprenoid biosynthesis.

CTD_human;ORPHANET

2

0

Biomarker

C2239176

Liver carcinoma

disease

hepatocellular carcinoma

2305

FOXM1

FoxM1

CTD_human

17,173,139

A cell-penetrating ARF peptide inhibitor of FoxM1 in mouse hepatocellular carcinoma treatment.

0.286593

A cell-penetrating ARF peptide inhibitor of FoxM1 in mouse hepatocellular carcinoma treatment.

CTD_human

2

0

Biomarker

C0019189

Hepatitis, Chronic

disease

chronic hepatitis

150684

COMMD1

CTD_human

22,879,914

COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis.

0.200549

COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis.

CTD_human

null

Negative

MESH:D013224

null

asthmatic

3662

null

IRF4

null

28,105,134

mRNA expression levels of IL-9, STAT6, and IRF4 in PBMCs from healthy controls and asthmatic patients were detected by reverse transcription-quantitative polymerase chain reaction.

null

Negative

MESH:D010282

null

PG

14182;14183;14184

null

Fgfr1-3

null

28,094,278

Here, we examined the effects of Fgfr1-3, aKlotho, or Fgfr1-4 ablation specifically in the PG (conditional knockout, cKO).

null

2

0

Biomarker

C0038220

Status Epilepticus

disease

status epilepticus

4803

NGF

CTD_human

8,821,376

Cellular hybridization for BDNF, trkB, and NGF mRNAs and BDNF-immunoreactivity in rat forebrain after pilocarpine-induced status epilepticus.

0.2

Cellular hybridization for BDNF, trkB, and NGF mRNAs and BDNF-immunoreactivity in rat forebrain after pilocarpine-induced status epilepticus.

CTD_human

null

Negative

MESH:D014842

null

von Willebrand

7450

null

VWF

null

28,135,035

Methods Immunohistochemistry in serial sections along the longitudinal axis of endarterectomies from patients with symptomatic carotid stenosis (n = 19) were studied using an antibody specific for free PAI-1 (I205), an antibody with high affinity for TAFI/TAFIa (CP17) and established antibodies for smooth muscle cells (a-actin), endothelial cells (von Willebrand factor [VWF]), macrophages (CD68) and platelets (CD42).

null

4

0

Biomarker

C0018801

Heart failure

disease

heart failure

7124

TNF

TNF-alpha

CTD_human

17,337,591

Tumor necrosis factor-alpha (TNF-alpha) is a proinflammatory cytokine that has been implicated in the pathogenesis of heart failure.

0.303871

Tumor necrosis factor-alpha (TNF-alpha) is a proinflammatory cytokine that has been implicated in the pathogenesis of heart failure.

CTD_human

1

0

Biomarker

C0031511

Pheochromocytoma

disease

PHEO

1621

DBH

dopamine ?-hydroxylase

CTD_human

22,569,243

At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine ?-hydroxylase, much more expressed in tumor tissue.

0.200824

At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine β-hydroxylase, much more expressed in tumor tissue.

CTD_human

1

0

Biomarker

C0007131

Non-Small Cell Lung Carcinoma

disease

non-small cell lung cancer

356

FASLG

FasL

CTD_human

21,807,637

A polymorphic -844T/C in FasL promoter predicts survival and relapse in non-small cell lung cancer.

0.201099

A polymorphic -844T/C in FasL promoter predicts survival and relapse in non-small cell lung cancer.

CTD_human

2

0

Biomarker

C0020295

Hydronephrosis

disease

hydronephrosis

9536

PTGES

microsomal prostaglandin E synthase-1

CTD_human

22,430,074

Critical role of microsomal prostaglandin E synthase-1 in the hydronephrosis caused by lactational exposure to dioxin in mice.

0.2

Critical role of microsomal prostaglandin E synthase-1 in the hydronephrosis caused by lactational exposure to dioxin in mice.

CTD_human

1

0

Biomarker

C1961099

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

disease

T-cell acute lymphoblastic leukemia

84295

PHF6

CTD_human

20,228,800

PHF6 mutations in T-cell acute lymphoblastic leukemia.

0.201923

PHF6 mutations in T-cell acute lymphoblastic leukemia.

CTD_human

1

0

Biomarker

C0007760

Cerebellar Diseases

group

cerebellar dysfunction

4842

NOS1

nNOS

CTD_human

25,511,929

Thus, homozygous mutation of the nNOS gene increases vulnerability to alcohol-induced cerebellar dysfunction and neuronal loss. nNOS is the first gene identified whose mutation worsens alcohol-induced cerebellar behavioral deficits.

0.2

Thus, homozygous mutation of the nNOS gene increases vulnerability to alcohol-induced cerebellar dysfunction and neuronal loss. nNOS is the first gene identified whose mutation worsens alcohol-induced cerebellar behavioral deficits.

CTD_human

null

Negative

MESH:D008107

null

liver damage

116637

null

CCl4

null

28,064,552

OBJECTIVE: The present study investigated the hepatoprotective effect and underlying mechanisms of b-aescin in CCl4-induced liver damage.

null

Negative

MESH:D000860

null

hypoxia

100302167

null

hsa-mir-1299

null

28,074,387

RESULTS: We found that six genes were differentially methylated in the test samples, of which four were linked to ischaemia or hypoxia (REXO1L1, TLR4, hsa-mir-1299, ANKRD2).

null

1

0

Biomarker

C0007134

Renal Cell Carcinoma

disease

renal cell carcinoma

1381

CRABP1

Cellular retinoic acid binding protein I

CTD_human

16,254,461

Cellular retinoic acid binding protein I: expression and functional influence in renal cell carcinoma.

0.203008

Cellular retinoic acid binding protein I: expression and functional influence in renal cell carcinoma.

CTD_human

3

1

Biomarker

C0009952

Febrile Convulsions

disease

febrile seizures

6323

SCN1A

CTD_human

25,362,483

Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy.

0.436791

Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy.

CTD_human;HPO

2

0

Biomarker

C1956346

Coronary Artery Disease

disease

CAD

7422

VEGFA

VEGF165

CTD_human

14,668,888

Direct myocardial administration of genes encoding VEGF165 can be an effective method of treatment in patients with chronic and advanced CAD either as a supplementary treatment or as a single therapy.

0.23201

Direct myocardial administration of genes encoding VEGF165 can be an effective method of treatment in patients with chronic and advanced CAD either as a supplementary treatment or as a single therapy.

CTD_human

4

8

Biomarker

C0796135

Renpenning syndrome 1

disease

Renpenning syndrome

10084

PQBP1

CTD_human

15,024,694

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

0.402473

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

CTD_human;UNIPROT

35

84

Biomarker

C0022716

Menkes Kinky Hair Syndrome

disease

Menkes disease

538

ATP7A

CTD_human

17,483,305

Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.

0.727934

Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.

CTD_human;ORPHANET;UNIPROT

12

0

Biomarker

C0030567

Parkinson Disease

disease

PD

5071

PARK2

Park2

CTD_human

24,582,596

Here we have tested in vitro the effect of resveratrol treatment on primary fibroblast cultures from two patients with early-onset PD linked to different Park2 mutations.

0.413846

Here we have tested in vitro the effect of resveratrol treatment on primary fibroblast cultures from two patients with early-onset PD linked to different Park2 mutations.

CTD_human

null

Negative

MESH:C536528

null

LPS

7124

null

TNF-a

null

28,138,327

We demonstrate that GM-CSF and IL-3 priming enhances TNF-a production upon subsequent LPS stimulation (short-term model of trained immunity) in a p38- and SIRT2-dependent manner without increasing TNF primary transcript levels (a more direct measure of transcription), thus supporting a posttranscriptional regulation of TNF-a in primed monocytes.

null

Negative

MESH:D009410

null

neuronal death

216439

null

PIKE

null

28,096,359

Hence, our findings demonstrate that a-synuclein neutralizes PIKE-L's neuroprotective actions in synucleinopathies, triggering dopaminergic neuronal death by hyperactivating AMPK.

null

2

0

Biomarker

C0022658

Kidney Diseases

group

nephropathy

142

PARP1

PARP-1

CTD_human

20,561,897

Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.

0.2

Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.

CTD_human

1

0

Biomarker

C0037286

Skin Neoplasms

group

skin tumors

2993

GYPA

GPA

CTD_human

17,029,826

These data demonstrate that arsenic exposure is associated with mutations at the GPA locus, an effect exaggerated in patients bearing arsenic-induced skin tumors.

0.200275

These data demonstrate that arsenic exposure is associated with mutations at the GPA locus, an effect exaggerated in patients bearing arsenic-induced skin tumors.

CTD_human

1

0

Biomarker

C0027121

Myositis

disease

myositis

3557

IL1RN

IL-1RN

CTD_human

10,886,238

Because IL-1alpha and IL-1beta, and the anti-inflammatory competitive inhibitor, IL-1 receptor antagonist (IL-1Ra), have been implicated in the pathogenesis of myositis, we assessed the role of variable number tandem repeat (VNTR) polymorphisms of the IL-1Ra gene (IL-1RN) in the aetiology of JIIM: IL-1RN VNTR polymorphisms were performed on 250 JIIM patients and 471 race-matched controls and were correlated with clinical characteristics.

0.200549

Because IL-1alpha and IL-1beta, and the anti-inflammatory competitive inhibitor, IL-1 receptor antagonist (IL-1Ra), have been implicated in the pathogenesis of myositis, we assessed the role of variable number tandem repeat (VNTR) polymorphisms of the IL-1Ra gene (IL-1RN) in the aetiology of JIIM: IL-1RN VNTR polymorphisms were performed on 250 JIIM patients and 471 race-matched controls and were correlated with clinical characteristics.

CTD_human

null

Negative

MESH:D006623

null

VHL

5159

null

PDGFRb

null

28,143,107

The gene probes chosen for this analysis were; VHL, FHIT, FGFR1/3, PDGFb, PDGFRb, EGFR, MYC and IGH@.

null

Negative

MESH:D019694

null

chronic hepatitis B

3805

null

KIR

null

28,211,154

Fifty-seven subjects with chronic hepatitis B (CHB), 44 subjects with resolved HBV infection and 60 healthy uninfected controls (HC) were genotyped for KIR and their HLA ligands.

null

Negative

MESH:D007174

null

randomized controlled trials

64805

null

P2Y12

null

28,089,137

METHODS: MEDLINE/PubMed and ClinicalTrials.gov were searched for randomized controlled trials (RCTs) that compared at least two P2Y12 inhibitors including cangrelor, clopidogrel, prasugrel, and ticagrelor.

null

64

0

Therapeutic

C0002871

Anemia

disease

anemia

2056

EPO

Epo

CTD_human

8,260,696

Administration of a lower Epo dose (1 U Epo) resulted in only a modest retardation of AZT-induced anemia, although, when combined with heme, there was a great improvement in recovery of erythropoiesis.

0.24092

Administration of a lower Epo dose (1 U Epo) resulted in only a modest retardation of AZT-induced anemia, although, when combined with heme, there was a great improvement in recovery of erythropoiesis.

CTD_human

null

Negative

MESH:D009369

null

tumor

15978

null

IFN-gamma

null

28,136,733

UNASSIGNED: 271 Background: ALT-801, a T-cell receptor/IL-2 fusion protein, activates NK and CD4(+) lymphocytes to secrete IFN-gamma which re-polarizes tumor associated macrophages from M1 to M2 in various murine tumor models.

null

Negative

MESH:D013132

null

inherited ataxia

110616

null

ATXN3

null

28,157,529

UNASSIGNED: Machado-Joseph disease (MJD) is a dominantly inherited ataxia caused by a polyglutamine-coding expansion in the ATXN3 gene.

null

Negative

MESH:D010146

null

pain

29650

null

ADAM10

null

28,169,407

Methods: Using the spinal nerve ligation model, we investigated whether ADAM10 proteins participate in pain regulation.

null

Negative

MESH:D006509

null

Hepatitis B

944566

null

HBx

null

28,212,627

BACKGROUND: The Hepatitis B Virus (HBV) HBx regulatory protein is required for HBV replication and involved in HBV-related carcinogenesis.

null

Negative

MESH:D056587

null

Cryopyrin-Associated Periodic Syndromes

16176

null

IL-1b

null

28,148,962

Additionally, QUC inhibited IL-1b in Cryopyrin-Associated Periodic Syndromes (CAPS) macrophages, where NLRP3 inflammasome is constitutively activated.

null

2

0

Biomarker

C0033578

Prostatic Neoplasms

group

prostate tumor

3169

FOXA1

CTD_human

26,457,646

Introduction of FOXA1 and HOXB13 into an immortalized prostate cell line reprogrammed the AR cistrome to resemble that of a prostate tumor, functionally linking these specific factors to AR cistrome reprogramming.

0.203008

Introduction of FOXA1 and HOXB13 into an immortalized prostate cell line reprogrammed the AR cistrome to resemble that of a prostate tumor, functionally linking these specific factors to AR cistrome reprogramming.

CTD_human

null

Negative

MESH:D006332

null

obesity-related cardiac hypertrophy

26416

null

p38 MAPK

null

28,158,919

Obesity often leads to obesity-related cardiac hypertrophy (ORCH), which is suppressed by zinc-induced inactivation of p38 mitogen-activated protein kinase (p38 MAPK).

null

Negative

MESH:D049914

null

deficient homologous repair

472;672;675

null

BRCA1/2 and ATM

null

28,022,799

PARP inhibition enhances chemotherapy and induces cell death by synthetic lethality in patients with deficient homologous repair (BRCA1/2 and ATM).

null

69

0

Biomarker

C0020538

Hypertensive disease

group

hypertension

183

AGT

angiotensin II

CTD_human

26,564,064

Role of the Na+/H+ exchanger 3 in angiotensin II-induced hypertension in NHE3-deficient mice with transgenic rescue of NHE3 in small intestines.

0.52

Role of the Na+/H+ exchanger 3 in angiotensin II-induced hypertension in NHE3-deficient mice with transgenic rescue of NHE3 in small intestines.

CTD_human

3

21

Biomarker

C0268263

Multiple Sulfatase Deficiency Disease

disease

Multiple sulfatase deficiency

285362

SUMF1

CTD_human

17,657,823

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

0.683571

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

CTD_human;ORPHANET;UNIPROT

2

1

Biomarker

C0238358

Hypokalemic periodic paralysis

disease

hypokalemic periodic paralysis

779

CACNA1S

CTD_human

19,822,448

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.

0.417265

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.

CTD_human;ORPHANET

2

0

Biomarker

C0028754

Obesity

disease

obesity

3358

HTR2C

CTD_human

17,702,092

Evidence was based on the observation that knock-out mice for the HTR2C receptor gene develop obesity and that many antipsychotics (AP) with potent HTR2C antagonism may induce weight gain in susceptible individuals.

0.226334

Evidence was based on the observation that knock-out mice for the HTR2C receptor gene develop obesity and that many antipsychotics (AP) with potent HTR2C antagonism may induce weight gain in susceptible individuals.

CTD_human

null

Negative

MESH:D056486

null

hepatic toxicity

116637

null

CCl4

null

28,084,470

At equivalent doses, NCX 6560 eliminated hepatic toxicity and reduced muscular toxicity (60-74%) caused by atorvastatin in the more advanced BDL model; toxicity was minimal in the CCl4 model.

null