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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8869
Gene name	ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Gene symbol	ST3GAL5
Synonyms (NCBI Gene)	SATISIAT9SIATGM3SSPDRSST3Gal VST3GalV
Chromosome	2
Chromosome location	2p11.2
Summary	Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893668	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs141917910	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs145738225	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs148195895	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs199590656	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant
rs367638648	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs534438354	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs754643632	T>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs771732955	C>T	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs778265926	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs886037930	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs1553405319	G>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553405470	TGTCTTGGCAAAC>CA	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553405529	->A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1573589807	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

231

Show/Hide all (231)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018189	hsa-miR-335-5p	Microarray	18185580
MIRT047769	hsa-miR-7-5p	CLASH	23622248
MIRT045016	hsa-miR-186-5p	CLASH	23622248
MIRT563272	hsa-miR-4468	PAR-CLIP	20371350
MIRT563271	hsa-miR-298	PAR-CLIP	20371350
MIRT563270	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT563269	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT563268	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT563267	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT563266	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT563265	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT563264	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT563263	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT563262	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT563261	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT495655	hsa-miR-6806-5p	PAR-CLIP	22291592
MIRT495654	hsa-miR-4789-5p	PAR-CLIP	22291592
MIRT439532	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT439532	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT563272	hsa-miR-4468	PAR-CLIP	20371350
MIRT563271	hsa-miR-298	PAR-CLIP	20371350
MIRT563270	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT563269	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT563268	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT563267	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT563266	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT563265	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT563264	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT563263	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT563262	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT563261	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT495655	hsa-miR-6806-5p	PAR-CLIP	22291592
MIRT495654	hsa-miR-4789-5p	PAR-CLIP	22291592
MIRT1393549	hsa-miR-1184	CLIP-seq
MIRT1393550	hsa-miR-1205	CLIP-seq
MIRT1393551	hsa-miR-1273g	CLIP-seq
MIRT1393552	hsa-miR-1286	CLIP-seq
MIRT1393553	hsa-miR-2392	CLIP-seq
MIRT1393554	hsa-miR-3158-5p	CLIP-seq
MIRT1393555	hsa-miR-3160-3p	CLIP-seq
MIRT1393556	hsa-miR-3649	CLIP-seq
MIRT1393557	hsa-miR-3686	CLIP-seq
MIRT1393558	hsa-miR-3973	CLIP-seq
MIRT1393559	hsa-miR-4292	CLIP-seq
MIRT1393560	hsa-miR-4308	CLIP-seq
MIRT1393561	hsa-miR-4318	CLIP-seq
MIRT1393562	hsa-miR-4325	CLIP-seq
MIRT1393563	hsa-miR-4436a	CLIP-seq
MIRT1393564	hsa-miR-4487	CLIP-seq
MIRT1393565	hsa-miR-4534	CLIP-seq
MIRT1393566	hsa-miR-4646-5p	CLIP-seq
MIRT1393567	hsa-miR-4652-3p	CLIP-seq
MIRT1393568	hsa-miR-4686	CLIP-seq
MIRT1393569	hsa-miR-4722-5p	CLIP-seq
MIRT1393570	hsa-miR-4731-5p	CLIP-seq
MIRT1393571	hsa-miR-4747-5p	CLIP-seq
MIRT1393572	hsa-miR-4793-3p	CLIP-seq
MIRT1393573	hsa-miR-520g	CLIP-seq
MIRT1393574	hsa-miR-520h	CLIP-seq
MIRT1393575	hsa-miR-548c-3p	CLIP-seq
MIRT1393576	hsa-miR-548l	CLIP-seq
MIRT1393577	hsa-miR-556-5p	CLIP-seq
MIRT1393578	hsa-miR-558	CLIP-seq
MIRT1393579	hsa-miR-665	CLIP-seq
MIRT1393580	hsa-miR-670	CLIP-seq
MIRT1393581	hsa-miR-7	CLIP-seq
MIRT1393582	hsa-miR-214	CLIP-seq
MIRT1393583	hsa-miR-3619-5p	CLIP-seq
MIRT1393584	hsa-miR-503	CLIP-seq
MIRT1393585	hsa-miR-761	CLIP-seq
MIRT1393582	hsa-miR-214	CLIP-seq
MIRT2118127	hsa-miR-3127-5p	CLIP-seq
MIRT1393583	hsa-miR-3619-5p	CLIP-seq
MIRT2118128	hsa-miR-3918	CLIP-seq
MIRT2118129	hsa-miR-4291	CLIP-seq
MIRT1393585	hsa-miR-761	CLIP-seq
MIRT2118130	hsa-miR-922	CLIP-seq
MIRT2340081	hsa-miR-1228	CLIP-seq
MIRT2340082	hsa-miR-141	CLIP-seq
MIRT2340083	hsa-miR-15a	CLIP-seq
MIRT2340084	hsa-miR-15b	CLIP-seq
MIRT2340085	hsa-miR-16	CLIP-seq
MIRT2340086	hsa-miR-195	CLIP-seq
MIRT2340087	hsa-miR-200a	CLIP-seq
MIRT1393582	hsa-miR-214	CLIP-seq
MIRT2340088	hsa-miR-302a	CLIP-seq
MIRT2340089	hsa-miR-302b	CLIP-seq
MIRT2340090	hsa-miR-302c	CLIP-seq
MIRT2340091	hsa-miR-302d	CLIP-seq
MIRT2340092	hsa-miR-302e	CLIP-seq
MIRT2340093	hsa-miR-3130-5p	CLIP-seq
MIRT2340094	hsa-miR-3605-3p	CLIP-seq
MIRT1393583	hsa-miR-3619-5p	CLIP-seq
MIRT2340095	hsa-miR-3714	CLIP-seq
MIRT2340096	hsa-miR-372	CLIP-seq
MIRT2340097	hsa-miR-373	CLIP-seq
MIRT2340098	hsa-miR-424	CLIP-seq
MIRT2118129	hsa-miR-4291	CLIP-seq
MIRT2340099	hsa-miR-4436b-3p	CLIP-seq
MIRT2340100	hsa-miR-4482	CLIP-seq
MIRT2340101	hsa-miR-4793-5p	CLIP-seq
MIRT2340102	hsa-miR-488	CLIP-seq
MIRT2340103	hsa-miR-497	CLIP-seq
MIRT1393584	hsa-miR-503	CLIP-seq
MIRT2340104	hsa-miR-519a	CLIP-seq
MIRT2340105	hsa-miR-519b-3p	CLIP-seq
MIRT2340106	hsa-miR-519c-3p	CLIP-seq
MIRT2340107	hsa-miR-520a-3p	CLIP-seq
MIRT2340108	hsa-miR-520b	CLIP-seq
MIRT2340109	hsa-miR-520c-3p	CLIP-seq
MIRT2340110	hsa-miR-520d-3p	CLIP-seq
MIRT2340111	hsa-miR-520e	CLIP-seq
MIRT2340112	hsa-miR-520f	CLIP-seq
MIRT2340113	hsa-miR-598	CLIP-seq
MIRT1393585	hsa-miR-761	CLIP-seq
MIRT2118130	hsa-miR-922	CLIP-seq
MIRT2633996	hsa-miR-1254	CLIP-seq
MIRT1393551	hsa-miR-1273g	CLIP-seq
MIRT2340082	hsa-miR-141	CLIP-seq
MIRT2633997	hsa-miR-1915	CLIP-seq
MIRT2340087	hsa-miR-200a	CLIP-seq
MIRT2633998	hsa-miR-200b	CLIP-seq
MIRT2633999	hsa-miR-200c	CLIP-seq
MIRT2634000	hsa-miR-2054	CLIP-seq
MIRT2634001	hsa-miR-219-2-3p	CLIP-seq
MIRT2340088	hsa-miR-302a	CLIP-seq
MIRT2340089	hsa-miR-302b	CLIP-seq
MIRT2340090	hsa-miR-302c	CLIP-seq
MIRT2340091	hsa-miR-302d	CLIP-seq
MIRT2340092	hsa-miR-302e	CLIP-seq
MIRT2634002	hsa-miR-302f	CLIP-seq
MIRT2634003	hsa-miR-3116	CLIP-seq
MIRT2634004	hsa-miR-3137	CLIP-seq
MIRT1393557	hsa-miR-3686	CLIP-seq
MIRT2634005	hsa-miR-369-3p	CLIP-seq
MIRT2340096	hsa-miR-372	CLIP-seq
MIRT2340097	hsa-miR-373	CLIP-seq
MIRT2634006	hsa-miR-374a	CLIP-seq
MIRT2634007	hsa-miR-374b	CLIP-seq
MIRT2634008	hsa-miR-4276	CLIP-seq
MIRT2634009	hsa-miR-429	CLIP-seq
MIRT2634010	hsa-miR-4302	CLIP-seq
MIRT1393561	hsa-miR-4318	CLIP-seq
MIRT2340099	hsa-miR-4436b-3p	CLIP-seq
MIRT1393566	hsa-miR-4646-5p	CLIP-seq
MIRT1393567	hsa-miR-4652-3p	CLIP-seq
MIRT2634011	hsa-miR-4668-3p	CLIP-seq
MIRT2634012	hsa-miR-4699-5p	CLIP-seq
MIRT2634013	hsa-miR-4731-3p	CLIP-seq
MIRT1393570	hsa-miR-4731-5p	CLIP-seq
MIRT1393571	hsa-miR-4747-5p	CLIP-seq
MIRT2634014	hsa-miR-4774-5p	CLIP-seq
MIRT2634015	hsa-miR-4801	CLIP-seq
MIRT2340102	hsa-miR-488	CLIP-seq
MIRT2340104	hsa-miR-519a	CLIP-seq
MIRT2340105	hsa-miR-519b-3p	CLIP-seq
MIRT2340106	hsa-miR-519c-3p	CLIP-seq
MIRT2340107	hsa-miR-520a-3p	CLIP-seq
MIRT2340108	hsa-miR-520b	CLIP-seq
MIRT2340109	hsa-miR-520c-3p	CLIP-seq
MIRT2340110	hsa-miR-520d-3p	CLIP-seq
MIRT2340111	hsa-miR-520e	CLIP-seq
MIRT2340112	hsa-miR-520f	CLIP-seq
MIRT1393575	hsa-miR-548c-3p	CLIP-seq
MIRT2634016	hsa-miR-561	CLIP-seq
MIRT2634017	hsa-miR-579	CLIP-seq
MIRT2634018	hsa-miR-605	CLIP-seq
MIRT2634019	hsa-miR-661	CLIP-seq
MIRT1393581	hsa-miR-7	CLIP-seq
MIRT2633996	hsa-miR-1254	CLIP-seq
MIRT2692103	hsa-miR-1261	CLIP-seq
MIRT1393551	hsa-miR-1273g	CLIP-seq
MIRT2692104	hsa-miR-128	CLIP-seq
MIRT2340082	hsa-miR-141	CLIP-seq
MIRT2633997	hsa-miR-1915	CLIP-seq
MIRT2340087	hsa-miR-200a	CLIP-seq
MIRT2633998	hsa-miR-200b	CLIP-seq
MIRT2633999	hsa-miR-200c	CLIP-seq
MIRT2634000	hsa-miR-2054	CLIP-seq
MIRT2634001	hsa-miR-219-2-3p	CLIP-seq
MIRT2692105	hsa-miR-27a	CLIP-seq
MIRT2692106	hsa-miR-27b	CLIP-seq
MIRT2340088	hsa-miR-302a	CLIP-seq
MIRT2340089	hsa-miR-302b	CLIP-seq
MIRT2340090	hsa-miR-302c	CLIP-seq
MIRT2340091	hsa-miR-302d	CLIP-seq
MIRT2340092	hsa-miR-302e	CLIP-seq
MIRT2634002	hsa-miR-302f	CLIP-seq
MIRT2634003	hsa-miR-3116	CLIP-seq
MIRT2634004	hsa-miR-3137	CLIP-seq
MIRT1393557	hsa-miR-3686	CLIP-seq
MIRT2634005	hsa-miR-369-3p	CLIP-seq
MIRT2340096	hsa-miR-372	CLIP-seq
MIRT2340097	hsa-miR-373	CLIP-seq
MIRT2634006	hsa-miR-374a	CLIP-seq
MIRT2634007	hsa-miR-374b	CLIP-seq
MIRT2692107	hsa-miR-375	CLIP-seq
MIRT2692108	hsa-miR-3920	CLIP-seq
MIRT2692109	hsa-miR-4273	CLIP-seq
MIRT2634008	hsa-miR-4276	CLIP-seq
MIRT2634009	hsa-miR-429	CLIP-seq
MIRT1393561	hsa-miR-4318	CLIP-seq
MIRT2340099	hsa-miR-4436b-3p	CLIP-seq
MIRT1393566	hsa-miR-4646-5p	CLIP-seq
MIRT1393567	hsa-miR-4652-3p	CLIP-seq
MIRT2634011	hsa-miR-4668-3p	CLIP-seq
MIRT2692110	hsa-miR-4677-5p	CLIP-seq
MIRT2634012	hsa-miR-4699-5p	CLIP-seq
MIRT2634013	hsa-miR-4731-3p	CLIP-seq
MIRT1393570	hsa-miR-4731-5p	CLIP-seq
MIRT1393571	hsa-miR-4747-5p	CLIP-seq
MIRT2692111	hsa-miR-4762-3p	CLIP-seq
MIRT2634014	hsa-miR-4774-5p	CLIP-seq
MIRT2634015	hsa-miR-4801	CLIP-seq
MIRT2340102	hsa-miR-488	CLIP-seq
MIRT2692112	hsa-miR-513a-5p	CLIP-seq
MIRT2340104	hsa-miR-519a	CLIP-seq
MIRT2340105	hsa-miR-519b-3p	CLIP-seq
MIRT2340106	hsa-miR-519c-3p	CLIP-seq
MIRT2340107	hsa-miR-520a-3p	CLIP-seq
MIRT2340108	hsa-miR-520b	CLIP-seq
MIRT2340109	hsa-miR-520c-3p	CLIP-seq
MIRT2340110	hsa-miR-520d-3p	CLIP-seq
MIRT2340111	hsa-miR-520e	CLIP-seq
MIRT2340112	hsa-miR-520f	CLIP-seq
MIRT1393575	hsa-miR-548c-3p	CLIP-seq
MIRT2634016	hsa-miR-561	CLIP-seq
MIRT2634017	hsa-miR-579	CLIP-seq
MIRT2634018	hsa-miR-605	CLIP-seq
MIRT2634019	hsa-miR-661	CLIP-seq
MIRT1393581	hsa-miR-7	CLIP-seq

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Transcription factor	Regulation	Reference
ATF2	Activation	21699754

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001574	Process	Ganglioside biosynthetic process	IC	9822625
GO:0003836	Function	Beta-galactoside (CMP) alpha-2,3-sialyltransferase activity	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IBA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	TAS	10092602
GO:0008373	Function	Sialyltransferase activity	IEA
GO:0008373	Function	Sialyltransferase activity	TAS	10092602
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10092602
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0047291	Function	Lactosylceramide alpha-2,3-sialyltransferase activity	IBA
GO:0047291	Function	Lactosylceramide alpha-2,3-sialyltransferase activity	IDA	9822625
GO:0047291	Function	Lactosylceramide alpha-2,3-sialyltransferase activity	IEA

MIM	HGNC	e!Ensembl
604402	10872	ENSG00000115525

Q9UNP4

Protein name

Lactosylceramide alpha-2,3-sialyltransferase (EC 2.4.3.9) (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase) (GM3 synthase) (Ganglioside GM3 synthase) (ST3Gal V) (ST3GalV) (Sialyltransferase 9)

Protein function

Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the non-reducing terminal galactose (Gal) of glycosphingolipids forming gangliosides (important molecules involved in the regulation of multiple cellular processes

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00777	Glyco_transf_29	142 → 411	Glycosyltransferase family 29 (sialyltransferase)	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis. mRNA widely distributed in human brain, but slightly elevated expression was observed in the cerebral cortex, temporal lobe, and putamen. {ECO:0000269|PubMed:

Sequence

MRTKAAGCAERRPLQPRTEAAAAPAGRAMPSEYTYVKLRSDCSRPSLQWYTRAQSKMRRP
SLLLKDILKCTLLVFGVWILYILKLNYTTEECDMKKMHYVDPDHVKRAQKYAQQVLQKEC
RPKFAKTSMALLFEHRYSVDLLPFVQKAPKDSEAESKYDPPFGFRKFSSKVQTLLELLPE
HDLPEHLKAKTCRRCVVIGSGGILHGLELGHTLNQFDVVIRLNSAPVEGYSEHVGNKTTI
RMTYPEGAPLSDLEYYSNDLFVAVLFKSVDFNWLQAMVKKETLPFWVRLFFWKQVAEKIP
LQPKHFRILNPVIIKETAFDILQYSEPQSRFWGRDKNVPTIGVIAVVLATHLCDEVSLAG
FGYDLNQPRTPLHYFDSQCMAAMNFQTMHNVTTETKFLLKLVKEGVVKDLSGGIDREF

Sequence length

418

Interactions

View interactions

	KEGG		Reactome
	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways		Sialic acid metabolism

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastric cancer	Likely pathogenic	rs549326241	RCV005927106	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM3 synthase deficiency	Likely pathogenic; Pathogenic	rs200541102, rs2104584644, rs2104059095, rs368298013, rs1423247945, rs2104282063, rs2103936382, rs1383734078, rs1683047204, rs1444819796, rs2103959087, rs104893668, rs2467062259, rs760786924, rs779767507 View all (26 more)	RCV003095499 RCV001678592 RCV001376766 RCV001389686 RCV001386108 View all (37 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1573589807, rs1681835024	RCV001260857 RCV001260781	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ST3GAL5-related disorder	Pathogenic	rs104893668	RCV003904809	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMISH INFANTILE EPILEPSY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (54)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amish Infantile Epilepsy Syndrome	Salt and pepper developmental regression syndrome	CLINVAR_DG	15502825, 22990144, 23436467, 27232954		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amish Infantile Epilepsy Syndrome	Salt and pepper developmental regression syndrome	ORPHANET_DG	15502825		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amish Infantile Epilepsy Syndrome	Salt and pepper developmental regression syndrome	GENOMICS_ENGLAND_DG	15502825, 24026681, 25529582, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amish Infantile Epilepsy Syndrome	Amish infantile epilepsy syndrome	Pubtator	15502825, 30185102, 34906476, 36833282, 37676252	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amish Infantile Epilepsy Syndrome	Amish infantile epilepsy syndrome	Pubtator	22990144, 36833282	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amish Infantile Epilepsy Syndrome	Salt and pepper developmental regression syndrome	BEFREE	27232954, 30185102		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amish Infantile Epilepsy Syndrome	Salt and pepper developmental regression syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	BEFREE	22768242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36172374	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	30185102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	30185102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cohen syndrome	Cohen syndrome	Pubtator	36833282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	30576498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	30576498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36833282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	GENOMICS_ENGLAND_DG	25529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36833282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	15502825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
GM3 synthase deficiency	GM3 Synthase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	20811057	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	29047240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	36833282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	30185102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23479608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35799115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29983310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25529582		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	29747824, 30185102		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30185102	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	36833282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28218742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	24599001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21949119	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	27232954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	29747824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	29047240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	30576498		★★★★★ ★☆☆☆☆ Found in Text Mining only

ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5)