SLC37A4 (solute carrier family 37 member 4)

Gene

• Entrez ID: 2542
• Gene name: Solute carrier family 37 member 4
• Gene symbol: SLC37A4
• Synonyms (NCBI Gene): CDG2W, G6PT, G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d, PRO0685, SPX4, TRG-19, TRG19
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356489	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs80356490	C>A	Pathogenic	Missense variant, coding sequence variant
rs80356491	AG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs121908975	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121908976	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs121908977	CAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs121908978	C>T	Not-provided, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs121908979	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs121908980	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs148971334	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs186476316	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193302881	C>G,T	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs193302882	G>A	Pathogenic, not-provided	Coding sequence variant, intron variant, missense variant
rs193302883	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs193302887	A>G	Likely-pathogenic, not-provided	Coding sequence variant, intron variant, missense variant
rs193302888	G>A	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs193302889	A>T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, intron variant, missense variant
rs193302900	A>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs193302903	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs200703321	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201036248	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201967384	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202209699	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374848317	G>A,T	Pathogenic	5 prime UTR variant, missense variant, stop gained, coding sequence variant
rs551439289	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs561701030	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769726248	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs781784543	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs781869215	->AC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs782172072	->T	Pathogenic	Frameshift variant, coding sequence variant
rs782202675	C>G,T	Likely-pathogenic	Splice acceptor variant
rs782501672	CCGACTG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs782604758	->C,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs782630676	C>A,G	Pathogenic	Splice donor variant
rs782645078	A>C	Likely-pathogenic	Splice donor variant
rs786204477	->CCAGCCATCATG	Likely-pathogenic	Inframe insertion, coding sequence variant
rs786204637	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs786204740	T>C	Likely-pathogenic	Missense variant, initiator codon variant, intron variant
rs920196110	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1064795433	A>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1182102272	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1444468055	G>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1447366650	GTAA>-	Pathogenic-likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1449998297	A>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1459811938	->A	Likely-pathogenic	Splice donor variant
rs1474282972	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555190559	AGAGCTG>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1555190745	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555190956	GTAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555190969	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555190992	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191105	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191211	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555191406	C>-	Likely-pathogenic	Splice acceptor variant
rs1555191512	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191573	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191580	->AGCCAACCAGG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555191595	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1592109970	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1592111112	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592111172	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592111559	A>C	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046702	hsa-miR-222-3p	CLASH	23622248
MIRT041504	hsa-miR-193b-3p	CLASH	23622248
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT570793	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT570792	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT570793	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT570792	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508335	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	22012620
MIRT508336	hsa-miR-1322	PAR-CLIP	22012620
MIRT508335	hsa-miR-205-3p	PAR-CLIP	22012620
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT508333	hsa-miR-4534	PAR-CLIP	22012620
MIRT508332	hsa-miR-8082	PAR-CLIP	22012620
MIRT508331	hsa-miR-3134	PAR-CLIP	22012620
MIRT508330	hsa-miR-7974	PAR-CLIP	22012620
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	22012620
MIRT508328	hsa-miR-4502	PAR-CLIP	22012620
MIRT508337	hsa-miR-1272	PAR-CLIP	23446348
MIRT508336	hsa-miR-1322	PAR-CLIP	23446348
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT508333	hsa-miR-4534	PAR-CLIP	23446348
MIRT508332	hsa-miR-8082	PAR-CLIP	23446348
MIRT508331	hsa-miR-3134	PAR-CLIP	23446348
MIRT508330	hsa-miR-7974	PAR-CLIP	23446348
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT508328	hsa-miR-4502	PAR-CLIP	23446348
MIRT508337	hsa-miR-1272	PAR-CLIP	23446348
MIRT508336	hsa-miR-1322	PAR-CLIP	23446348
MIRT508335	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT508333	hsa-miR-4534	PAR-CLIP	23446348
MIRT508332	hsa-miR-8082	PAR-CLIP	23446348
MIRT508331	hsa-miR-3134	PAR-CLIP	23446348
MIRT508330	hsa-miR-7974	PAR-CLIP	23446348
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT508328	hsa-miR-4502	PAR-CLIP	23446348
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT570793	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT570792	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT570793	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT570792	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	20371350
MIRT508336	hsa-miR-1322	PAR-CLIP	20371350
MIRT508335	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT508333	hsa-miR-4534	PAR-CLIP	20371350
MIRT508332	hsa-miR-8082	PAR-CLIP	20371350
MIRT508331	hsa-miR-3134	PAR-CLIP	20371350
MIRT508330	hsa-miR-7974	PAR-CLIP	20371350
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT508328	hsa-miR-4502	PAR-CLIP	20371350
MIRT508337	hsa-miR-1272	PAR-CLIP	22012620
MIRT508336	hsa-miR-1322	PAR-CLIP	22012620
MIRT508335	hsa-miR-205-3p	PAR-CLIP	22012620
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT508333	hsa-miR-4534	PAR-CLIP	22012620
MIRT508332	hsa-miR-8082	PAR-CLIP	22012620
MIRT508331	hsa-miR-3134	PAR-CLIP	22012620
MIRT508330	hsa-miR-7974	PAR-CLIP	22012620
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	22012620
MIRT508328	hsa-miR-4502	PAR-CLIP	22012620
MIRT508337	hsa-miR-1272	PAR-CLIP	23446348
MIRT508336	hsa-miR-1322	PAR-CLIP	23446348
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT508333	hsa-miR-4534	PAR-CLIP	23446348
MIRT508332	hsa-miR-8082	PAR-CLIP	23446348
MIRT508331	hsa-miR-3134	PAR-CLIP	23446348
MIRT508330	hsa-miR-7974	PAR-CLIP	23446348
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT508328	hsa-miR-4502	PAR-CLIP	23446348
MIRT508337	hsa-miR-1272	PAR-CLIP	23446348
MIRT508336	hsa-miR-1322	PAR-CLIP	23446348
MIRT508335	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT508334	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT508333	hsa-miR-4534	PAR-CLIP	23446348
MIRT508332	hsa-miR-8082	PAR-CLIP	23446348
MIRT508331	hsa-miR-3134	PAR-CLIP	23446348
MIRT508330	hsa-miR-7974	PAR-CLIP	23446348
MIRT508329	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT508328	hsa-miR-4502	PAR-CLIP	23446348
MIRT1362191	hsa-miR-1231	CLIP-seq
MIRT1362192	hsa-miR-191	CLIP-seq
MIRT1362193	hsa-miR-28-5p	CLIP-seq
MIRT1362194	hsa-miR-3074-5p	CLIP-seq
MIRT1362195	hsa-miR-3139	CLIP-seq
MIRT1362196	hsa-miR-3714	CLIP-seq
MIRT1362197	hsa-miR-3926	CLIP-seq
MIRT1362198	hsa-miR-4288	CLIP-seq
MIRT1362199	hsa-miR-4294	CLIP-seq
MIRT1362200	hsa-miR-4493	CLIP-seq
MIRT1362201	hsa-miR-4521	CLIP-seq
MIRT1362202	hsa-miR-4633-3p	CLIP-seq
MIRT1362203	hsa-miR-4753-5p	CLIP-seq
MIRT1362204	hsa-miR-610	CLIP-seq
MIRT1362205	hsa-miR-632	CLIP-seq
MIRT1362206	hsa-miR-708	CLIP-seq
MIRT1362207	hsa-miR-940	CLIP-seq
MIRT1362208	hsa-miR-154	CLIP-seq
MIRT1362192	hsa-miR-191	CLIP-seq
MIRT1362209	hsa-miR-2278	CLIP-seq
MIRT1362193	hsa-miR-28-5p	CLIP-seq
MIRT1362210	hsa-miR-3121-3p	CLIP-seq
MIRT1362195	hsa-miR-3139	CLIP-seq
MIRT1362197	hsa-miR-3926	CLIP-seq
MIRT1362211	hsa-miR-4270	CLIP-seq
MIRT1362199	hsa-miR-4294	CLIP-seq
MIRT1362212	hsa-miR-4441	CLIP-seq
MIRT1362201	hsa-miR-4521	CLIP-seq
MIRT1362202	hsa-miR-4633-3p	CLIP-seq
MIRT1362213	hsa-miR-4661-3p	CLIP-seq
MIRT1362203	hsa-miR-4753-5p	CLIP-seq
MIRT1362214	hsa-miR-4762-5p	CLIP-seq
MIRT1362215	hsa-miR-4772-5p	CLIP-seq
MIRT1362204	hsa-miR-610	CLIP-seq
MIRT1362206	hsa-miR-708	CLIP-seq
MIRT1362216	hsa-miR-1184	CLIP-seq
MIRT1362217	hsa-miR-1205	CLIP-seq
MIRT1362218	hsa-miR-125a-3p	CLIP-seq
MIRT1362219	hsa-miR-1301	CLIP-seq
MIRT1362220	hsa-miR-146b-3p	CLIP-seq
MIRT1362208	hsa-miR-154	CLIP-seq
MIRT1362221	hsa-miR-1909	CLIP-seq
MIRT1362192	hsa-miR-191	CLIP-seq
MIRT1362222	hsa-miR-298	CLIP-seq
MIRT1362223	hsa-miR-3117-3p	CLIP-seq
MIRT1362224	hsa-miR-3135	CLIP-seq
MIRT1362225	hsa-miR-3154	CLIP-seq
MIRT1362226	hsa-miR-3173-5p	CLIP-seq
MIRT1362227	hsa-miR-3185	CLIP-seq
MIRT1362228	hsa-miR-371-3p	CLIP-seq
MIRT1362229	hsa-miR-371b-3p	CLIP-seq
MIRT1362197	hsa-miR-3926	CLIP-seq
MIRT1362230	hsa-miR-3934	CLIP-seq
MIRT1362231	hsa-miR-4274	CLIP-seq
MIRT1362199	hsa-miR-4294	CLIP-seq
MIRT1362232	hsa-miR-4450	CLIP-seq
MIRT1362233	hsa-miR-4473	CLIP-seq
MIRT1362234	hsa-miR-4496	CLIP-seq
MIRT1362201	hsa-miR-4521	CLIP-seq
MIRT1362235	hsa-miR-4530	CLIP-seq
MIRT1362236	hsa-miR-4660	CLIP-seq
MIRT1362237	hsa-miR-4663	CLIP-seq
MIRT1362238	hsa-miR-4671-3p	CLIP-seq
MIRT1362239	hsa-miR-4700-3p	CLIP-seq
MIRT1362240	hsa-miR-4704-3p	CLIP-seq
MIRT1362203	hsa-miR-4753-5p	CLIP-seq
MIRT1362241	hsa-miR-491-5p	CLIP-seq
MIRT1362242	hsa-miR-5047	CLIP-seq
MIRT1362243	hsa-miR-515-3p	CLIP-seq
MIRT1362244	hsa-miR-519e	CLIP-seq
MIRT1362245	hsa-miR-711	CLIP-seq
MIRT1362246	hsa-miR-764	CLIP-seq
MIRT1362247	hsa-miR-874	CLIP-seq
MIRT1362248	hsa-miR-922	CLIP-seq
MIRT2107319	hsa-miR-1265	CLIP-seq
MIRT2107320	hsa-miR-2392	CLIP-seq
MIRT2107321	hsa-miR-202	CLIP-seq
MIRT2107322	hsa-miR-4678	CLIP-seq
MIRT1362222	hsa-miR-298	CLIP-seq
MIRT1362194	hsa-miR-3074-5p	CLIP-seq
MIRT1362223	hsa-miR-3117-3p	CLIP-seq
MIRT2331436	hsa-miR-3158-5p	CLIP-seq
MIRT2331437	hsa-miR-4418	CLIP-seq
MIRT1362237	hsa-miR-4663	CLIP-seq
MIRT2331438	hsa-miR-509-3-5p	CLIP-seq
MIRT2331439	hsa-miR-509-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	212064
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10318794, 21949678, 33964207
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006006	Process	Glucose metabolic process	NAS	9428641
GO:0006094	Process	Gluconeogenesis	TAS
GO:0015152	Function	Glucose-6-phosphate transmembrane transporter activity	IDA	11140953
GO:0015152	Function	Glucose-6-phosphate transmembrane transporter activity	IMP	12560945
GO:0015297	Function	Antiporter activity	IEA
GO:0015760	Process	Glucose-6-phosphate transport	IBA
GO:0015760	Process	Glucose-6-phosphate transport	IDA	11140953, 21949678
GO:0015760	Process	Glucose-6-phosphate transport	IMP	10026167, 12560945, 33964207
GO:0015760	Process	Glucose-6-phosphate transport	NAS	9428641
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9428641
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0035435	Process	Phosphate ion transmembrane transport	IBA
GO:0035435	Process	Phosphate ion transmembrane transport	IDA	21949678
GO:0042593	Process	Glucose homeostasis	IDA	11140953
GO:0055085	Process	Transmembrane transport	IEA
GO:0061513	Function	Glucose 6-phosphate:phosphate antiporter activity	EXP	18337460
GO:0061513	Function	Glucose 6-phosphate:phosphate antiporter activity	IBA
GO:0061513	Function	Glucose 6-phosphate:phosphate antiporter activity	IDA	18337460, 21949678
GO:0061513	Function	Glucose 6-phosphate:phosphate antiporter activity	TAS

Other IDs

• MIM: 602671
• HGNC: 4061
• e!Ensembl: ENSG00000137700

Protein

• UniProt ID: O43826
• Protein name: Glucose-6-phosphate exchanger SLC37A4 (Glucose-5-phosphate transporter) (Glucose-6-phosphate translocase) (Solute carrier family 37 member 4) (Transformation-related gene 19 protein) (TRG-19)
• Protein function: Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction (PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07690	MFS_1	17 → 381	Major Facilitator Superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Mostly expressed in liver and kidney.
• Sequence:

  MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAY
  AISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPP
  CGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVS
  FLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVK
  TCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPR
  HGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPN
  LCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTK
  MGRVSKKAE

• Sequence length: 429

Pathways

KEGG:

Carbohydrate digestion and absorption

Reactome:

Glycogen storage disease type Ib (SLC37A4)
Gluconeogenesis

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
Congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs2134626266	RCV001543403	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of glycosylation, type IIw	Likely pathogenic; Pathogenic	rs2134626266, rs80356491, rs1943672400, rs121908978, rs121908979, rs121908980, rs1447366650, rs1182102272, rs193302883, rs193302893, rs193302881, rs193302882, rs193302903	RCV001647389 RCV002279712 RCV002496291 RCV002482839 RCV002496292 RCV002482840 RCV002499185 RCV002501021 RCV002483116 RCV005357433 RCV002504976 RCV002477207 RCV002498349	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucose-6-phosphate transport defect	Likely pathogenic; Pathogenic	rs2134633880, rs2134640168, rs2134626765, rs2134631619, rs1943618079, rs2134626266, rs2134633858, rs782612223, rs2134635160, rs2134639714, rs2134637643, rs1001301633, rs2134644045, rs2134638421, rs2134631242, rs782313064, rs2134644472, rs782630676, rs2134628172, rs1449998297, rs2497021163, rs781784543, rs551439289, rs786204637, rs786204740, rs1943574435, rs2497022903, rs2497027852, rs2497023809, rs2497012200, rs2497017391, rs2497023156, rs2497017623, rs2497018180, rs80356490, rs121908975, rs80356489, rs2134631556, rs80356491, rs121908976, rs121908977, rs1943672400, rs121908978, rs121908979, rs121908980, rs1272300904, rs2497032074, rs1451674068, rs1943632639, rs1479515679, rs2497011315, rs2497033380, rs2497028029, rs2497017330, rs2497018167, rs2134633831, rs2497029858, rs2497018036, rs1943512272, rs2497023982, rs2497011739, rs1182102272, rs2497024196, rs2497011528, rs193302894, rs1194259722, rs1352968108, rs2483089065, rs2497018051, rs782282206, rs2497023568, rs1555191101, rs2497028783, rs2497032578, rs2497010232, rs2497029597, rs2497010200, rs1943638687, rs1441197277, rs2497029561, rs2497029498, rs2497011562, rs2497010101, rs2497010017, rs2497033470, rs2497029871, rs2497032747, rs1227989495, rs2497033417, rs2497023441, rs2497023512, rs2488350348, rs2497028505, rs1555190969, rs1444468055, rs782604758, rs920196110, rs1474282972, rs782202675, rs1555190559, rs1555190745, rs1555190956, rs1555190992, rs1555191105, rs1555191512, rs1555191573, rs1555191406, rs1555191580, rs781869215, rs1447366650, rs782645078, rs782172072, rs1592111172, rs769726248, rs782501672, rs374848317, rs1592111559, rs1592109970, rs1592111112, rs193302884, rs193302885, rs193302879, rs193302892, rs193302883, rs193302890, rs193302893, rs193302888, rs193302881, rs193302887, rs193302878, rs193302882, rs193302880, rs193302903, rs193302891, rs1943557200, rs996440530, rs1233639372, rs1943676862, rs1555191604, rs781857990, rs902775927, rs1943554955, rs1943556915, rs1943578039, rs1943525176, rs1943553565, rs1943554287	RCV001379469 RCV001378593 RCV001390356 RCV001390446 RCV001390723 RCV002506653 RCV003617930 RCV001733377 RCV001806737 RCV001960556 RCV001939454 RCV001992358 RCV001905428 RCV002000174 RCV001993152 RCV001876688 RCV001929223 RCV002048277 RCV001951598 RCV002282846 RCV002287549 RCV000169082 RCV000169570 RCV000169418 RCV000169589 RCV002835308 RCV002829400 RCV002881115 RCV002967550 RCV003017524 RCV003027110 RCV003031249 RCV003022200 RCV003043819 RCV003040942 RCV000007330 RCV000007331 RCV000007332 RCV000007333 RCV000007336 RCV000169480 RCV000007342 RCV000007343 RCV000007344 RCV000007345 RCV000007346 RCV000007347 RCV000007348 RCV003444046 RCV003472925 RCV003472926 RCV003472927 RCV003472928 RCV003472929 RCV003472931 RCV003472932 RCV003472934 RCV003472935 RCV003472936 RCV003472937 RCV003472938 RCV003472939 RCV003472940 RCV003472941 RCV003472942 RCV003472943 RCV003472944 RCV003472945 RCV003472921 RCV003472923 RCV003472924 RCV003507617 RCV003507694 RCV003508107 RCV003507732 RCV003507878 RCV003507911 RCV003507976 RCV003507820 RCV003618132 RCV003618186 RCV003618240 RCV003618302 RCV003618467 RCV003618505 RCV003618767 RCV003618663 RCV003618735 RCV003617461 RCV003617465 RCV003618855 RCV004573641 RCV004573642 RCV004573643 RCV004573644 RCV004573645 RCV004573646 RCV000505570 RCV000578424 RCV000634550 RCV000666410 RCV000668254 RCV000664487 RCV000668312 RCV000672116 RCV000670809 RCV000674565 RCV000672809 RCV000666518 RCV000665324 RCV000674005 RCV000669975 RCV000672097 RCV000668230 RCV000665873 RCV000673099 RCV000707348 RCV000781849 RCV000781850 RCV000807219 RCV000802697 RCV000820470 RCV000806503 RCV000810201 RCV000811087 RCV000812333 RCV000984945 RCV005092965 RCV003617796 RCV001854231 RCV001390447 RCV001204831 RCV000794844 RCV001854232 RCV001824595 RCV000169286 RCV000699431 RCV000169003 RCV003474641 RCV000634548 RCV000673809 RCV001388583 RCV003474642 RCV001050145 RCV001043799 RCV001068592 RCV001036141 RCV001174784 RCV001174813 RCV001192958 RCV001237077 RCV001247672 RCV001230044 RCV001260430 RCV001269152 RCV001283783 RCV001293643	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease	Pathogenic; Likely pathogenic	rs80356490, rs80356491, rs1943676862	RCV005638401 RCV000601076 RCV005638542	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease type 1 due to SLC37A4 mutation	Likely pathogenic; Pathogenic	rs193302903	RCV001813754	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease, type I	Pathogenic	rs80356491, rs2497033470	RCV004595875 RCV005637007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Phosphate transport defect	Likely pathogenic; Pathogenic	rs2134626266, rs782612223, rs80356491, rs121908976, rs1943672400, rs121908978, rs121908979, rs121908980, rs1447366650, rs1182102272, rs1592109970, rs193302883, rs193302881, rs193302882, rs193302903, rs193302891	RCV002506653 RCV002274201 RCV000007337 RCV000007339 RCV002496291 RCV002482839 RCV001196429 RCV002482840 RCV002499185 RCV002501021 RCV000984946 RCV002483116 RCV002504976 RCV002477207 RCV002498349 RCV005621868	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC37A4-related disorder	Pathogenic	rs2497012205	RCV003417011	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE IB	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE IC	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	Pubtator	33280276	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	27197745	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29719821		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	33964207	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	17460777, 18267120		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	38034009	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33964207	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	33964207	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital neutropenia	Congenital Neutropenia	BEFREE	20008220		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10567346		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10567346		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10567346		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	17027861, 19579760, 31322653, 31587472		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17460777, 18267120		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38034009	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17460777, 18267120		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16777101		★☆☆☆☆ Found in Text Mining only
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	BEFREE	10023055, 10482875, 10482962, 10834514, 12444104, 12560945, 15059622, 15260472, 17006547, 18835800, 19008136, 19376605, 19579760, 19756389, 20975743, 23506893, 24565827, 25288127, 27864142, 28224773, 28685844, 28973635, 29238966, 29663270, 29719821, 29967951, 30951856, 31536830, 31705665, 9428641, 9675154, 9856496		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	CLINVAR_DG	10026167, 10323254, 10482962, 10518030, 10874322, 10923042, 10940311, 11071391, 11949931, 12373566, 12409273, 12444104, 15260472, 15757503, 15906092, 15953877, 17307551, 18337460, 18437526, 18835800, 18996862, 19454374, 20386986, 21575371, 22899091, 24565827, 24646511, 24745989, 25982172, 26913919, 27066451, 28224773, 9758626		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	UNIPROT_DG	10026167, 10482875, 10482962, 10518030, 10874322, 10923042, 10931421, 11071391, 11949931, 12409273, 15059622, 15669677, 15953877, 19579760, 21629566, 9428641, 9675154, 9758626, 9781688, 9856496		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	GENOMICS_ENGLAND_DG	10482962, 25356975, 27604308, 9675154		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	CLINVAR_DG	10323254, 10923042, 9758626		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	10518030, 10834514, 10940311, 11015710, 11140953, 11439108, 11560776, 12192101, 12409273, 14872340, 15953877, 17027861, 19579760, 21385794, 31322653, 31587472, 6133035		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	LHGDN	16435186		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen storage disease	Pubtator	19579760, 22899091, 28224773, 30451720, 31508908, 32005221, 33280276, 33964207	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	27604308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	Glycogen Storage Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease IB	Glycogen storage disease	Pubtator	28224773, 33731098, 9758626	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE Ic	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	10482962, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE Ic	Glycogen Storage Disease	BEFREE	10834514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE Ic	Glycogen Storage Disease	UNIPROT_DG	9758626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE Ic	Glycogen Storage Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE Ic	Glycogen Storage Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	10834514, 10923042, 11899241, 19756389, 20975743, 25288127, 29435782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen storage disease	Pubtator	32306986	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease type Ia	Glycogen Storage Disease	BEFREE	25288127		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	11439108, 15953877, 19579760, 24646511, 31617422, 33731098, 9758626	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	33280276	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33731098	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33964207	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	15906092, 19376605, 28973635, 29967951, 30951856		★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	33280276	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	33731098	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	14872340		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	19579760	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	11015710		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	15953877	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30951856		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	14872340, 15906092, 16435186, 19066956, 24565827, 30626647, 31536830		★☆☆☆☆ Found in Text Mining only
Lipidemia retinalis	Lipidemia Retinalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	33731098, 33964207	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17460777		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31322653		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	11560776, 31536830		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	33280276	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19074414, 28973635		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	14872340, 15906092, 16435186, 19066956, 24565827, 30626647, 31536830		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	19579760, 32005221, 33964207, 9463334	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	35525891	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28973635		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15906092		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spider hemangioma	Spider hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only