NT5E (5'-nucleotidase ecto)

Gene

• Entrez ID: 4907
• Gene name: 5'-nucleotidase ecto
• Gene symbol: NT5E
• Synonyms (NCBI Gene): CALJA, CD73, E5NT, NT, NT5, NTE, eN, eNT
• Chromosome: 6
• Chromosome location: 6q14.3
• Summary: The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene ca

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs373328681	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs387906620	G>A	Pathogenic	Missense variant, coding sequence variant
rs774200574	->A	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005130	hsa-miR-30a-5p	pSILAC	18668040
MIRT001529	hsa-miR-155-5p	pSILAC	18668040
MIRT001529	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT022996	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023955	hsa-miR-1-3p	Proteomics	18668040
MIRT025509	hsa-miR-34a-5p	Proteomics	21566225
MIRT005130	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT005130	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28158983
MIRT1195990	hsa-miR-106a	CLIP-seq
MIRT1195991	hsa-miR-106b	CLIP-seq
MIRT1195992	hsa-miR-1193	CLIP-seq
MIRT1195993	hsa-miR-142-5p	CLIP-seq
MIRT1195994	hsa-miR-17	CLIP-seq
MIRT1195995	hsa-miR-1914	CLIP-seq
MIRT1195996	hsa-miR-20a	CLIP-seq
MIRT1195997	hsa-miR-20b	CLIP-seq
MIRT1195998	hsa-miR-28-5p	CLIP-seq
MIRT1195999	hsa-miR-299-5p	CLIP-seq
MIRT1196000	hsa-miR-3139	CLIP-seq
MIRT1196001	hsa-miR-3144-3p	CLIP-seq
MIRT1196002	hsa-miR-340	CLIP-seq
MIRT1196003	hsa-miR-3609	CLIP-seq
MIRT1196004	hsa-miR-365	CLIP-seq
MIRT1196005	hsa-miR-4282	CLIP-seq
MIRT1196006	hsa-miR-4633-3p	CLIP-seq
MIRT1196007	hsa-miR-4720-3p	CLIP-seq
MIRT1196008	hsa-miR-4796-3p	CLIP-seq
MIRT1196009	hsa-miR-4804-3p	CLIP-seq
MIRT1196010	hsa-miR-513a-3p	CLIP-seq
MIRT1196011	hsa-miR-519d	CLIP-seq
MIRT1196012	hsa-miR-548ah	CLIP-seq
MIRT1196013	hsa-miR-592	CLIP-seq
MIRT1196014	hsa-miR-597	CLIP-seq
MIRT1196015	hsa-miR-708	CLIP-seq
MIRT1196016	hsa-miR-93	CLIP-seq
MIRT1551884	hsa-miR-1246	CLIP-seq
MIRT1551885	hsa-miR-30a	CLIP-seq
MIRT1551886	hsa-miR-30b	CLIP-seq
MIRT1551887	hsa-miR-30c	CLIP-seq
MIRT1551888	hsa-miR-30d	CLIP-seq
MIRT1551889	hsa-miR-30e	CLIP-seq
MIRT1551890	hsa-miR-3134	CLIP-seq
MIRT1551891	hsa-miR-320e	CLIP-seq
MIRT1551892	hsa-miR-380	CLIP-seq
MIRT1551893	hsa-miR-3924	CLIP-seq
MIRT1551894	hsa-miR-4495	CLIP-seq
MIRT1551895	hsa-miR-4534	CLIP-seq
MIRT1551896	hsa-miR-4803	CLIP-seq
MIRT1551897	hsa-miR-590-3p	CLIP-seq
MIRT1195992	hsa-miR-1193	CLIP-seq
MIRT2056866	hsa-miR-1236	CLIP-seq
MIRT2056867	hsa-miR-1827	CLIP-seq
MIRT2056868	hsa-miR-2392	CLIP-seq
MIRT2056869	hsa-miR-3120-5p	CLIP-seq
MIRT1551890	hsa-miR-3134	CLIP-seq
MIRT2056870	hsa-miR-3605-5p	CLIP-seq
MIRT2056871	hsa-miR-4453	CLIP-seq
MIRT2056872	hsa-miR-4455	CLIP-seq
MIRT1551895	hsa-miR-4534	CLIP-seq
MIRT2056873	hsa-miR-4538	CLIP-seq
MIRT2056874	hsa-miR-4684-3p	CLIP-seq
MIRT2056875	hsa-miR-4696	CLIP-seq
MIRT2056876	hsa-miR-556-5p	CLIP-seq
MIRT2056877	hsa-miR-579	CLIP-seq
MIRT2056878	hsa-miR-593	CLIP-seq
MIRT2056879	hsa-miR-609	CLIP-seq
MIRT2056880	hsa-miR-654-3p	CLIP-seq
MIRT2285340	hsa-miR-3163	CLIP-seq
MIRT2285341	hsa-miR-4452	CLIP-seq
MIRT2391778	hsa-miR-1301	CLIP-seq
MIRT2391779	hsa-miR-187	CLIP-seq
MIRT2391780	hsa-miR-3127-3p	CLIP-seq
MIRT2391781	hsa-miR-3176	CLIP-seq
MIRT2391782	hsa-miR-3615	CLIP-seq
MIRT2391783	hsa-miR-3667-3p	CLIP-seq
MIRT2391784	hsa-miR-3922-3p	CLIP-seq
MIRT2056872	hsa-miR-4455	CLIP-seq
MIRT2391785	hsa-miR-450b-5p	CLIP-seq
MIRT2391786	hsa-miR-4768-5p	CLIP-seq
MIRT2391787	hsa-miR-5047	CLIP-seq
MIRT2391788	hsa-miR-507	CLIP-seq
MIRT2391789	hsa-miR-557	CLIP-seq
MIRT2056879	hsa-miR-609	CLIP-seq
MIRT2431650	hsa-miR-2116	CLIP-seq
MIRT2431651	hsa-miR-218	CLIP-seq
MIRT2431652	hsa-miR-375	CLIP-seq
MIRT2431653	hsa-miR-4273	CLIP-seq
MIRT2431654	hsa-miR-4302	CLIP-seq
MIRT2431655	hsa-miR-4677-5p	CLIP-seq
MIRT1196007	hsa-miR-4720-3p	CLIP-seq
MIRT1196009	hsa-miR-4804-3p	CLIP-seq
MIRT2431656	hsa-miR-502-5p	CLIP-seq
MIRT2431657	hsa-miR-548a-3p	CLIP-seq
MIRT2431658	hsa-miR-548e	CLIP-seq
MIRT2431659	hsa-miR-548f	CLIP-seq
MIRT2431660	hsa-miR-636	CLIP-seq
MIRT2431661	hsa-miR-648	CLIP-seq
MIRT2431662	hsa-miR-662	CLIP-seq
MIRT2431663	hsa-miR-9	CLIP-seq
MIRT2056866	hsa-miR-1236	CLIP-seq
MIRT2439075	hsa-miR-125a-5p	CLIP-seq
MIRT2439076	hsa-miR-125b	CLIP-seq
MIRT2056869	hsa-miR-3120-5p	CLIP-seq
MIRT2439077	hsa-miR-3714	CLIP-seq
MIRT2439078	hsa-miR-374a	CLIP-seq
MIRT2439079	hsa-miR-374b	CLIP-seq
MIRT2439080	hsa-miR-4319	CLIP-seq
MIRT2439081	hsa-miR-4719	CLIP-seq
MIRT2439082	hsa-miR-4725-5p	CLIP-seq
MIRT2439083	hsa-miR-504	CLIP-seq
MIRT2439084	hsa-miR-548an	CLIP-seq
MIRT2056877	hsa-miR-579	CLIP-seq
MIRT2056878	hsa-miR-593	CLIP-seq
MIRT2056880	hsa-miR-654-3p	CLIP-seq
MIRT2439075	hsa-miR-125a-5p	CLIP-seq
MIRT2439076	hsa-miR-125b	CLIP-seq
MIRT2056869	hsa-miR-3120-5p	CLIP-seq
MIRT2439080	hsa-miR-4319	CLIP-seq
MIRT2439082	hsa-miR-4725-5p	CLIP-seq
MIRT2439083	hsa-miR-504	CLIP-seq
MIRT2056878	hsa-miR-593	CLIP-seq
MIRT2056880	hsa-miR-654-3p	CLIP-seq
MIRT2583371	hsa-miR-105	CLIP-seq
MIRT1195990	hsa-miR-106a	CLIP-seq
MIRT1195991	hsa-miR-106b	CLIP-seq
MIRT1195992	hsa-miR-1193	CLIP-seq
MIRT2583372	hsa-miR-124	CLIP-seq
MIRT1195993	hsa-miR-142-5p	CLIP-seq
MIRT2583373	hsa-miR-153	CLIP-seq
MIRT2583374	hsa-miR-154	CLIP-seq
MIRT1195994	hsa-miR-17	CLIP-seq
MIRT1195995	hsa-miR-1914	CLIP-seq
MIRT1195996	hsa-miR-20a	CLIP-seq
MIRT1195997	hsa-miR-20b	CLIP-seq
MIRT2431650	hsa-miR-2116	CLIP-seq
MIRT2583375	hsa-miR-216a	CLIP-seq
MIRT2431651	hsa-miR-218	CLIP-seq
MIRT2056868	hsa-miR-2392	CLIP-seq
MIRT1195998	hsa-miR-28-5p	CLIP-seq
MIRT2583376	hsa-miR-298	CLIP-seq
MIRT2583377	hsa-miR-3121-3p	CLIP-seq
MIRT2583378	hsa-miR-3124-3p	CLIP-seq
MIRT1196000	hsa-miR-3139	CLIP-seq
MIRT1196001	hsa-miR-3144-3p	CLIP-seq
MIRT2583379	hsa-miR-3148	CLIP-seq
MIRT2583380	hsa-miR-3153	CLIP-seq
MIRT2583381	hsa-miR-3156-3p	CLIP-seq
MIRT2285340	hsa-miR-3163	CLIP-seq
MIRT2583382	hsa-miR-3180-5p	CLIP-seq
MIRT2583383	hsa-miR-3201	CLIP-seq
MIRT2583384	hsa-miR-338-3p	CLIP-seq
MIRT1196002	hsa-miR-340	CLIP-seq
MIRT2056870	hsa-miR-3605-5p	CLIP-seq
MIRT1196003	hsa-miR-3609	CLIP-seq
MIRT2583385	hsa-miR-3614-5p	CLIP-seq
MIRT2583386	hsa-miR-3685	CLIP-seq
MIRT2583387	hsa-miR-3691-5p	CLIP-seq
MIRT2439077	hsa-miR-3714	CLIP-seq
MIRT2431652	hsa-miR-375	CLIP-seq
MIRT2583388	hsa-miR-382	CLIP-seq
MIRT2583389	hsa-miR-384	CLIP-seq
MIRT2583390	hsa-miR-3945	CLIP-seq
MIRT2583391	hsa-miR-3975	CLIP-seq
MIRT2583392	hsa-miR-3976	CLIP-seq
MIRT2583393	hsa-miR-4253	CLIP-seq
MIRT2583394	hsa-miR-4256	CLIP-seq
MIRT2583395	hsa-miR-4257	CLIP-seq
MIRT2431653	hsa-miR-4273	CLIP-seq
MIRT2583396	hsa-miR-4301	CLIP-seq
MIRT2431654	hsa-miR-4302	CLIP-seq
MIRT2583397	hsa-miR-4310	CLIP-seq
MIRT2583398	hsa-miR-4422	CLIP-seq
MIRT2056872	hsa-miR-4455	CLIP-seq
MIRT2583399	hsa-miR-4530	CLIP-seq
MIRT1196006	hsa-miR-4633-3p	CLIP-seq
MIRT2583400	hsa-miR-4668-5p	CLIP-seq
MIRT2583401	hsa-miR-4670-3p	CLIP-seq
MIRT2431655	hsa-miR-4677-5p	CLIP-seq
MIRT2056874	hsa-miR-4684-3p	CLIP-seq
MIRT2056875	hsa-miR-4696	CLIP-seq
MIRT2583402	hsa-miR-4717-3p	CLIP-seq
MIRT2439081	hsa-miR-4719	CLIP-seq
MIRT1196007	hsa-miR-4720-3p	CLIP-seq
MIRT2583403	hsa-miR-4752	CLIP-seq
MIRT2583404	hsa-miR-4753-3p	CLIP-seq
MIRT2583405	hsa-miR-4762-3p	CLIP-seq
MIRT2583406	hsa-miR-4772-3p	CLIP-seq
MIRT2583407	hsa-miR-4791	CLIP-seq
MIRT2583408	hsa-miR-4795-3p	CLIP-seq
MIRT1196008	hsa-miR-4796-3p	CLIP-seq
MIRT1196009	hsa-miR-4804-3p	CLIP-seq
MIRT2583409	hsa-miR-506	CLIP-seq
MIRT1196011	hsa-miR-519d	CLIP-seq
MIRT2431657	hsa-miR-548a-3p	CLIP-seq
MIRT1196012	hsa-miR-548ah	CLIP-seq
MIRT2439084	hsa-miR-548an	CLIP-seq
MIRT2431658	hsa-miR-548e	CLIP-seq
MIRT2431659	hsa-miR-548f	CLIP-seq
MIRT2583410	hsa-miR-552	CLIP-seq
MIRT2583411	hsa-miR-586	CLIP-seq
MIRT2056879	hsa-miR-609	CLIP-seq
MIRT2431660	hsa-miR-636	CLIP-seq
MIRT2431661	hsa-miR-648	CLIP-seq
MIRT2431662	hsa-miR-662	CLIP-seq
MIRT1196015	hsa-miR-708	CLIP-seq
MIRT2431663	hsa-miR-9	CLIP-seq
MIRT2583412	hsa-miR-922	CLIP-seq
MIRT1196016	hsa-miR-93	CLIP-seq
MIRT2583371	hsa-miR-105	CLIP-seq
MIRT1195990	hsa-miR-106a	CLIP-seq
MIRT1195991	hsa-miR-106b	CLIP-seq
MIRT1195992	hsa-miR-1193	CLIP-seq
MIRT2583372	hsa-miR-124	CLIP-seq
MIRT2686647	hsa-miR-1285	CLIP-seq
MIRT1195993	hsa-miR-142-5p	CLIP-seq
MIRT2583373	hsa-miR-153	CLIP-seq
MIRT1195994	hsa-miR-17	CLIP-seq
MIRT2056867	hsa-miR-1827	CLIP-seq
MIRT1195995	hsa-miR-1914	CLIP-seq
MIRT2686648	hsa-miR-205	CLIP-seq
MIRT1195996	hsa-miR-20a	CLIP-seq
MIRT1195997	hsa-miR-20b	CLIP-seq
MIRT2431650	hsa-miR-2116	CLIP-seq
MIRT2056868	hsa-miR-2392	CLIP-seq
MIRT1195998	hsa-miR-28-5p	CLIP-seq
MIRT2583376	hsa-miR-298	CLIP-seq
MIRT2583377	hsa-miR-3121-3p	CLIP-seq
MIRT2583378	hsa-miR-3124-3p	CLIP-seq
MIRT2686649	hsa-miR-3126-3p	CLIP-seq
MIRT1196000	hsa-miR-3139	CLIP-seq
MIRT1196001	hsa-miR-3144-3p	CLIP-seq
MIRT2583379	hsa-miR-3148	CLIP-seq
MIRT2583380	hsa-miR-3153	CLIP-seq
MIRT2583381	hsa-miR-3156-3p	CLIP-seq
MIRT2285340	hsa-miR-3163	CLIP-seq
MIRT2583382	hsa-miR-3180-5p	CLIP-seq
MIRT2686650	hsa-miR-3187-5p	CLIP-seq
MIRT2583383	hsa-miR-3201	CLIP-seq
MIRT2583384	hsa-miR-338-3p	CLIP-seq
MIRT1196002	hsa-miR-340	CLIP-seq
MIRT2056870	hsa-miR-3605-5p	CLIP-seq
MIRT1196003	hsa-miR-3609	CLIP-seq
MIRT2583386	hsa-miR-3685	CLIP-seq
MIRT2583387	hsa-miR-3691-5p	CLIP-seq
MIRT2431652	hsa-miR-375	CLIP-seq
MIRT2686651	hsa-miR-378g	CLIP-seq
MIRT2583388	hsa-miR-382	CLIP-seq
MIRT2583389	hsa-miR-384	CLIP-seq
MIRT2583390	hsa-miR-3945	CLIP-seq
MIRT2583391	hsa-miR-3975	CLIP-seq
MIRT2583392	hsa-miR-3976	CLIP-seq
MIRT2583393	hsa-miR-4253	CLIP-seq
MIRT2583394	hsa-miR-4256	CLIP-seq
MIRT2583395	hsa-miR-4257	CLIP-seq
MIRT2431653	hsa-miR-4273	CLIP-seq
MIRT2583396	hsa-miR-4301	CLIP-seq
MIRT2431654	hsa-miR-4302	CLIP-seq
MIRT2583397	hsa-miR-4310	CLIP-seq
MIRT2056872	hsa-miR-4455	CLIP-seq
MIRT2686652	hsa-miR-4486	CLIP-seq
MIRT2583399	hsa-miR-4530	CLIP-seq
MIRT1196006	hsa-miR-4633-3p	CLIP-seq
MIRT2583400	hsa-miR-4668-5p	CLIP-seq
MIRT2431655	hsa-miR-4677-5p	CLIP-seq
MIRT2056874	hsa-miR-4684-3p	CLIP-seq
MIRT2056875	hsa-miR-4696	CLIP-seq
MIRT2583402	hsa-miR-4717-3p	CLIP-seq
MIRT1196007	hsa-miR-4720-3p	CLIP-seq
MIRT2686653	hsa-miR-4724-3p	CLIP-seq
MIRT2583403	hsa-miR-4752	CLIP-seq
MIRT2583404	hsa-miR-4753-3p	CLIP-seq
MIRT2583405	hsa-miR-4762-3p	CLIP-seq
MIRT2583406	hsa-miR-4772-3p	CLIP-seq
MIRT2583407	hsa-miR-4791	CLIP-seq
MIRT2583408	hsa-miR-4795-3p	CLIP-seq
MIRT1196008	hsa-miR-4796-3p	CLIP-seq
MIRT2583409	hsa-miR-506	CLIP-seq
MIRT1196011	hsa-miR-519d	CLIP-seq
MIRT1196012	hsa-miR-548ah	CLIP-seq
MIRT2439084	hsa-miR-548an	CLIP-seq
MIRT2583410	hsa-miR-552	CLIP-seq
MIRT2686654	hsa-miR-583	CLIP-seq
MIRT2583411	hsa-miR-586	CLIP-seq
MIRT2056879	hsa-miR-609	CLIP-seq
MIRT2686655	hsa-miR-612	CLIP-seq
MIRT2431662	hsa-miR-662	CLIP-seq
MIRT1196015	hsa-miR-708	CLIP-seq
MIRT2431663	hsa-miR-9	CLIP-seq
MIRT2583412	hsa-miR-922	CLIP-seq
MIRT1196016	hsa-miR-93	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Activation	12370277
HNF1A	Unknown	10428853
LEF1	Unknown	10428853
SP1	Unknown	10428853

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002953	Function	5'-deoxynucleotidase activity	IDA	22997138, 34403084
GO:0002953	Function	5'-deoxynucleotidase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	25644539
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006196	Process	AMP catabolic process	IBA
GO:0006196	Process	AMP catabolic process	IEA
GO:0006259	Process	DNA metabolic process	TAS	2129526
GO:0007159	Process	Leukocyte cell-cell adhesion	IDA	7595232
GO:0008253	Function	5'-nucleotidase activity	IBA
GO:0008253	Function	5'-nucleotidase activity	IDA	7595232, 22997138, 23142347, 28592560, 34403084
GO:0008253	Function	5'-nucleotidase activity	IEA
GO:0008253	Function	5'-nucleotidase activity	IMP	24887587
GO:0008253	Function	5'-nucleotidase activity	TAS	2129526
GO:0008270	Function	Zinc ion binding	IDA	22997138, 23142347, 34403084
GO:0009166	Process	Nucleotide catabolic process	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	HDA	19581412
GO:0016020	Component	Membrane	IDA	2129526
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	2129526
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0033198	Process	Response to ATP	IDA	25644539
GO:0042802	Function	Identical protein binding	IDA	22997138, 23142347, 34403084
GO:0046032	Process	ADP catabolic process	IEA
GO:0046034	Process	ATP metabolic process	IDA	25644539
GO:0046086	Process	Adenosine biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 21362503, 23533145
GO:0098552	Component	Side of membrane	IEA
GO:0140928	Process	Inhibition of non-skeletal tissue mineralization	IEA

Other IDs

• MIM: 129190
• HGNC: 8021
• e!Ensembl: ENSG00000135318

Protein

• UniProt ID: P21589
• Protein name: 5'-nucleotidase (5'-NT) (EC 3.1.3.35) (EC 3.1.3.5) (EC 3.1.3.89) (EC 3.1.3.91) (EC 3.1.3.99) (5'-deoxynucleotidase) (Ecto-5'-nucleotidase) (IMP-specific 5'-nucleotidase) (Thymidylate 5'-phosphatase) (CD antigen CD73)
• Protein function: Catalyzes the hydrolysis of nucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, with AMP being the preferred substrate (PubMed:21933152, PubMed:22997138, PubMed:23142347, PubMed:24887587, PubMed:34403084).
• PDB: 4H1S, 4H1Y, 4H2B, 4H2F, 4H2G, 4H2I, 6HXW, 6S7F, 6S7H, 6TVE, 6TVG, 6TVX, 6TW0, 6TWA, 6TWF, 6VC9, 6VCA, 6XUE, 6XUG, 6XUQ, 6YE1, 6YE2, 6Z9B, 6Z9D, 7BBJ, 7JV8, 7JV9, 7P9N, 7P9R, 7P9T, 7PA4, 7PB5, 7PBA, 7PBB, 7PBY, 7PCP, 7PD9, 7QGA, 7QGL, 7QGM, 7QGO, 8ZNZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00149	Metallophos	29 → 246	Calcineurin-like phosphoesterase	Domain
  PF02872	5_nucleotid_C	338 → 513		Domain

• Sequence:

  MCPRAARAPATLLLALGAVLWPAAGAWELTILHTNDVHSRLEQTSEDSSKCVNASRCMGG
  VARLFTKVQQIRRAEPNVLLLDAGDQYQGTIWFTVYKGAEVAHFMNALRYDAMALGNHEF
  DNGVEGLIEPLLKEAKFPILSANIKAKGPLASQISGLYLPYKVLPVGDEVVGIVGYTSKE
  TPFLSNPGTNLVFEDEITALQPEVDKLKTLNVNKIIALGHSGFEMDKLIAQKVRGVDVVV
  GGHSNTFLYTGNPPSKEVPAGKYPFIVTSDDGRKVPVVQAYAFGKYLGYLKIEFDERGNV
  ISSHGNPILLNSSIPEDPSIKADINKWRIKLDNYSTQELGKTIVYLDGSSQSCRFRECNM
  GNLICDAMINNNLRHTDEMFWNHVSMCILNGGGIRSPIDERNNGTITWENLAAVLPFGGT
  FDLVQLKGSTLKKAFEHSVHRYGQSTGEFLQVGGIHVVYDLSRKPGDRVVKLDVLCTKCR
  VPSYDPLKMDEVYKVILPNFLANGGDGFQMIKDELLRHDSGDQDINVVSTYISKMKVIYP
  AVEGRIKFSTGSHCHGSFSLIFLSLWAVIFVLYQ

• Sequence length: 574

Pathways

KEGG:

Purine metabolism
Pyrimidine metabolism
Nicotinate and nicotinamide metabolism
Metabolic pathways
Nucleotide metabolism

Reactome:

Nicotinate metabolism
Pyrimidine catabolism
Purine catabolism
Purinergic signaling in leishmaniasis infection

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hereditary arterial and articular multiple calcification syndrome	Pathogenic; Likely pathogenic	rs373328681, rs387906620, rs774200574	RCV000022533 RCV000022534 RCV000022535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NT5E-related disorder	Likely pathogenic	rs1769796270, rs774200574	RCV004552466 RCV004549385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CALCIFICATION OF JOINTS AND ARTERIES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27718302, 29530508		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31014364, 31309149		★☆☆☆☆ Found in Text Mining only
Acute otitis media	Otitis media	BEFREE	28941966, 30733549		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28060732		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	25677906		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29530508		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	30664812		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	23094051, 26491983		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	27864		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	2843575	Associate	★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	19201288		★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	24074530	Stimulate	★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	27792269	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	26316481	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	16762092, 30097462		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	29102986		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29524036		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30607549, 30662604, 30927045		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28841891		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28841891		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	35115574	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	27906615, 31402927		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	34999808	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	27906615, 31402927		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	31402927		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	34999808	Associate	★☆☆☆☆ Found in Text Mining only
Arterial calcification of infancy	Arterial Calcification	BEFREE	26902123, 28340679		★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26506509, 27832456, 29345574, 30587087, 31619062		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	11040429		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	25418634	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	25418634	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24990235, 38275742	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30913879		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34999808	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26506509, 27832456, 29345574, 30587087, 31619062		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27832456	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22184407, 30060466, 30691212		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	30184475		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	12000134, 9646951		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26543299, 29305710, 30395172		★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	26040919, 32024452	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30117104		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	30926752		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17471030, 17587186, 20874842, 22653144, 22833450, 23086814, 24043904, 27993599, 28399915, 28855210, 29047106, 29741783, 30623751, 30693504, 31770109		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17471030, 17671792, 18062933, 1989648, 22653144, 23086814, 31770109, 32345959, 34741235, 35617355, 38235137, 40612859	Associate	★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	6316584	Associate	★☆☆☆☆ Found in Text Mining only
Calcification of Joints and Arteries	Calcification Of Joints And Arteries	UNIPROT_DG	21288095, 24887587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcification of Joints and Arteries	Calcification Of Joints And Arteries	ORPHANET_DG	21288095		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcification of Joints and Arteries	Calcinosis	Pubtator	21288095, 21371928, 32375544, 32522903, 34999808	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcification of Joints and Arteries	Calcification Of Joints And Arteries	BEFREE	21371928, 26178434, 27965423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcification of Joints and Arteries	Calcification Of Joints And Arteries	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcification of Joints and Arteries	Calcification Of Joints And Arteries	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	21371928	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29551673, 34019179, 36870289	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	31743281		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	34019179	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	35558159	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	35902382	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30607549, 32024555, 34838121	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	26543299	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26543299, 29305710, 30395172		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28158983, 30514403		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30607549, 32676968, 33820913, 33832821, 35485681, 37016126	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33177176	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	30321288, 31743281		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	29434915		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26363007, 26629888, 26658104, 29374065, 29514610, 29551673, 30941556		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28560821		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37016126	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	30442170		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29085673		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	20453713		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32344922	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28754163, 30291203		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24697693, 28950987, 30301599, 31205451		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	31205451		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24697693, 28950987, 30301599, 31205451		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29530508		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	23094051, 26491983		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30607549		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30607549, 36899373	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia Punctata	BEFREE	16359148		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23584256		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12000134, 12411296, 15510196, 29759563, 9646951		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	12000134		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	20169073		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	25298403		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	28404888		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	15489957		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36881132	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26708311, 26820227, 28464916, 30932882		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24133572, 30719834, 30918427, 30932882, 32363113, 34165921, 34980880, 35563553, 37016126, 37501197, 38164172	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36881132	Inhibit	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	30761077		★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital Microtia	BEFREE	28109504		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28404626, 31461341		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28404888		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	30985656	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30236485		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30236485		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30985656	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	24736300	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30236485		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28434016, 29055085		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19253308, 23625284, 28288184, 30295112		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19253308	Associate	★☆☆☆☆ Found in Text Mining only
Cryptophthalmos syndrome	Fraser syndrome	BEFREE	1541880		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	31060815		★☆☆☆☆ Found in Text Mining only
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia	Deafness	BEFREE	30939633		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28492224		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	29872993		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30971294		★☆☆☆☆ Found in Text Mining only
Dermatitis Herpetiformis	Dermatitis herpetiformis	Pubtator	22991566	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	32846838	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25437179	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32289379	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30617853		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30664812		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	30055730		★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear Diseases	BEFREE	28485038, 31001894		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24707115		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	33416944	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19228591, 24707115	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	30020448		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31698766		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	31698766	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	6326896	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	32426497	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30394239		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30941556		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28397110	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	31072727		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	16049284	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	18600546, 21424267, 31461341		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24310606, 29155108		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24310606, 35163489	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	34876625	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	19281303		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	27727523		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	25153905		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28453745, 30117104, 30926752, 31407144, 31547570		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33268695, 35973991, 37402102, 39709472, 40191718	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22833450, 28453745, 30117104, 30926752, 31407144, 31547570		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17568578, 30117104		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30957314		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	28914375, 30706192		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	26325413	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	30184475		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28938850, 29273285		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32548862, 37620936	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30985656	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28404626, 31461341		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	31646622		★☆☆☆☆ Found in Text Mining only
Hereditary arterial and articular multiple calcification syndrome	Hereditary Arterial And Articular Multiple Calcification Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	29514610	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30587076		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	30872004		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30587087		★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	27727523		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	26506509		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23584256, 30507864		★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	BEFREE	23584256		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29663535		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	28802362		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	30928313		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	29090621	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27832456, 34863899, 35973991, 37910505	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35622118	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20169073		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	20169073	Stimulate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29957134, 30514403		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19253308, 22965858	Associate	★☆☆☆☆ Found in Text Mining only
Intermittent Claudication	Claudication	Pubtator	32522903	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	39332686	Associate	★☆☆☆☆ Found in Text Mining only
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	BEFREE	9104625		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	28923439		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	28802362		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	30601287		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34299260	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	18598833		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11535530, 2070084, 27718302	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9646951		★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	6326896	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11535530, 23873772, 31014364, 34211801	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11535530, 12008078, 31014364, 31309149		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25298403, 30417547, 30607549, 30971294		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	25298403		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	27899277		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28836991, 31546861		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29514610	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	33123122	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33123122	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	29942314		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34666225	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36314527	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	29942314		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29942314		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	29942314		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23653114, 29514610, 32676968	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30932882, 30992388, 40612859	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30606206		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	37899130	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	30442170		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	BEFREE	30442170		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	31402927		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28938850, 29273285		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17471030, 17587186, 20874842, 22653144, 22833450, 23086814, 24043904, 27993599, 28399915, 28855210, 29047106, 29741783, 30623751, 30693504, 31770109		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24707115		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24310606		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30281919		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30514403		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26363007, 26629888, 26658104, 29374065, 29514610, 29551673		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30927045		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26253870, 29916747		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30992388		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	14734746, 26543299, 29305710, 30395172		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23086814, 23880765, 24043904, 24133572, 24958495, 25126561, 25298403, 25677906, 26253870, 27993599, 28158983, 28349824, 28399672, 28399915, 28498731, 28638737, 28652246, 28676406, 28855210, 29166791, 29374065, 29545748, 29559470, 29741783, 29758241, 30060466, 30159340, 30184475, 30417547, 30556751, 30591485, 30607549, 30664812, 30926752, 30971294, 31001741, 31044539, 31116985, 31223045, 31404305, 31727244, 31727245		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24697693, 28950987, 30301599, 31205451		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17487388, 17671792		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23964122, 29559470, 30693504		★☆☆☆☆ Found in Text Mining only
Mastoiditis	Mastoiditis	BEFREE	31475649		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	31402927		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	23094051, 26491983		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	23094051	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16718268, 17065075		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22454080, 23964122, 24297662, 28652244, 28652246, 29928476, 30232037, 30623751, 30957676		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22454080, 32160899, 32426497, 35273100, 36131912, 36522571, 37517292	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33361405	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	37768408	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	29468444		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30971294		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28344879		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28652244, 29202855, 29928476, 30957676		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30319363		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29103803		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	21171093		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	37392167	Associate	★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	20299111		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	2982438	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35365613	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17911479		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	18825744, 35325005	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	34922439	Associate	★☆☆☆☆ Found in Text Mining only
Myhre syndrome	Myhre Syndrome	BEFREE	27562837		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28363952, 28432149, 29209319, 31461341		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	31315595		★☆☆☆☆ Found in Text Mining only
Native American myopathy	Native american myopathy	Pubtator	23880765	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	20530413		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14520688, 20874842, 22653144, 23094051, 23776241, 23964122, 24043904, 24133572, 25126561, 25205101, 25520391, 25677906, 26253870, 26363007, 26491983, 26543299, 26629888, 27281619, 27321181, 27993599, 28060732, 28288184, 28453745, 28638737, 28938850, 28950987, 29145561, 29155108, 29336194, 29377887, 29434915, 29468444, 29514610, 29574275, 29663369, 29669134, 29741783, 29758241, 29916747, 30033544, 30075429, 30117104, 30184475, 30395172, 30417547, 30514403, 30545728, 30556751, 30560130, 30635578, 30664812, 30693504, 30696359, 30932882, 30957676, 30971294, 31014364, 31024543, 31396523, 31404305, 31407144, 31541853, 31547570, 31623231, 31770109		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	34299260	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29356585		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	33785019	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30088187, 31220343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	33452207	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	29434915		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30088187		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28060732, 28158983, 28680754, 28878242		★☆☆☆☆ Found in Text Mining only
Nonspherocytic hemolytic anemia	Hemolytic Anemia	BEFREE	30951028		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	27644766		★☆☆☆☆ Found in Text Mining only
Oliver-McFarlane syndrome	Oliver-McFarlane Syndrome	BEFREE	25480986		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	BEFREE	29872993		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32245507	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31457100		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32245507	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	29447793		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	15995518, 28688552, 8444544		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	29551673		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26363007, 26629888, 26658104, 29374065, 29514610, 29551673		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29514610	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29551673, 29559470	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30927045		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30607549, 30927045		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31879272, 32643277, 37260110, 37291128	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29455338, 30184475		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30689733, 31220343		★☆☆☆☆ Found in Text Mining only
Periarticular calcification	Periarticular calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	27562837		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31347162		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	27832456, 32375544	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27832456		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	28344879		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	29103803		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26436205		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27718302, 29530508		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	29102986		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	28649564, 31067752		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26253870, 29916747		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37092584	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23653114, 28033303, 30488530, 37092584	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	26253870		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	21371928, 31164056, 31646622		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	31646622	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28295154, 29572822		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	35848967	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20169073	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26921334, 28325757, 31461341		★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	BEFREE	30872004		★☆☆☆☆ Found in Text Mining only
Pycnodysostosis	Pycnodysostosis	BEFREE	28576543		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28404888, 30281919		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31364375		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28982733, 29132404		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10544841, 31684171		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	28684084		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	35902382	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	31510956	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	37471463	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	31510956		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	25520391		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26040919, 27650530	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	16762092		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28888888		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	30957314		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	6326896	Associate	★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	22184407		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	34386009	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27827006, 28681043, 29402674, 29439747, 29463325, 29731297, 30394239, 30880036, 31202665, 31202666		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28060732, 31044539		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31541853		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19825957, 25647013, 27281619, 36091055, 36268020, 36466881	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35657703	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27281619, 28938850, 29663369, 30197328, 30229863		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	29202855		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30992388		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923, 23569336, 29514610, 30992388, 31930120, 34637682	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroglossal Cyst	Thyroglossal Cyst	BEFREE	30534662		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34019179	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23776241, 29145561, 30823477		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29145561, 40612859	Associate	★☆☆☆☆ Found in Text Mining only
Troyer syndrome	Troyer Syndrome	BEFREE	21171093		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	30663235		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	28941966, 29309748		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19253308		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	31530426		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26543299, 29305710, 36870289, 38518167	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28202050, 31198791, 31205451, 33488292, 36070413, 40141056	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	21288095, 34922439	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	28914375		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	28916770	Inhibit	★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	30928313		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	27864, 315423		★☆☆☆☆ Found in Text Mining only