ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3)

Gene

• Entrez ID: 6487
• Gene name: ST3 beta-galactoside alpha-2,3-sialyltransferase 3
• Gene symbol: ST3GAL3
• Synonyms (NCBI Gene): DEE15, EIEE15, MRT12, SIAT6, ST3GALII, ST3Gal III, ST3GalIII, ST3N
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically proc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115003742	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, synonymous variant, intron variant, coding sequence variant
rs147330005	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs201204481	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant, non coding transcript variant
rs387906943	C>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs553120567	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, synonymous variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs563317319	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant, downstream transcript variant, intron variant, genic downstream transcript variant
rs1015506821	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, synonymous variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant
rs1557563410	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant, intron variant, non coding transcript variant
rs1557612719	G>T	Pathogenic	Coding sequence variant, missense variant, stop lost, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant, terminator codon variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1393517	hsa-miR-1285	CLIP-seq
MIRT1393518	hsa-miR-1302	CLIP-seq
MIRT1393519	hsa-miR-138	CLIP-seq
MIRT1393520	hsa-miR-2861	CLIP-seq
MIRT1393521	hsa-miR-3158-3p	CLIP-seq
MIRT1393522	hsa-miR-3187-5p	CLIP-seq
MIRT1393523	hsa-miR-370	CLIP-seq
MIRT1393524	hsa-miR-4298	CLIP-seq
MIRT1393525	hsa-miR-4299	CLIP-seq
MIRT1393526	hsa-miR-4446-3p	CLIP-seq
MIRT1393527	hsa-miR-4481	CLIP-seq
MIRT1393528	hsa-miR-4492	CLIP-seq
MIRT1393529	hsa-miR-4498	CLIP-seq
MIRT1393530	hsa-miR-4710	CLIP-seq
MIRT1393531	hsa-miR-4731-5p	CLIP-seq
MIRT1393532	hsa-miR-4745-5p	CLIP-seq
MIRT1393533	hsa-miR-4758-5p	CLIP-seq
MIRT1393534	hsa-miR-4792	CLIP-seq
MIRT1393535	hsa-miR-612	CLIP-seq
MIRT1393536	hsa-miR-762	CLIP-seq
MIRT1393537	hsa-miR-3120-3p	CLIP-seq
MIRT1393538	hsa-miR-3137	CLIP-seq
MIRT1393539	hsa-miR-3943	CLIP-seq
MIRT1393540	hsa-miR-4323	CLIP-seq
MIRT1393541	hsa-miR-4758-3p	CLIP-seq
MIRT1393542	hsa-miR-486-5p	CLIP-seq
MIRT2340067	hsa-miR-374c	CLIP-seq
MIRT2340068	hsa-miR-655	CLIP-seq
MIRT2395239	hsa-miR-1237	CLIP-seq
MIRT2395240	hsa-miR-1248	CLIP-seq
MIRT2395241	hsa-miR-193a-5p	CLIP-seq
MIRT2395242	hsa-miR-326	CLIP-seq
MIRT2395243	hsa-miR-330-5p	CLIP-seq
MIRT2395244	hsa-miR-942	CLIP-seq
MIRT2633952	hsa-miR-1184	CLIP-seq
MIRT2633953	hsa-miR-1207-3p	CLIP-seq
MIRT2633954	hsa-miR-1236	CLIP-seq
MIRT2395239	hsa-miR-1237	CLIP-seq
MIRT2633955	hsa-miR-1245b-5p	CLIP-seq
MIRT2633956	hsa-miR-1246	CLIP-seq
MIRT2395240	hsa-miR-1248	CLIP-seq
MIRT2633957	hsa-miR-1271	CLIP-seq
MIRT2633958	hsa-miR-1301	CLIP-seq
MIRT2633959	hsa-miR-149	CLIP-seq
MIRT2633960	hsa-miR-1913	CLIP-seq
MIRT2395241	hsa-miR-193a-5p	CLIP-seq
MIRT2633961	hsa-miR-214	CLIP-seq
MIRT1393520	hsa-miR-2861	CLIP-seq
MIRT2633962	hsa-miR-3064-5p	CLIP-seq
MIRT2633963	hsa-miR-31	CLIP-seq
MIRT2633964	hsa-miR-3142	CLIP-seq
MIRT2633965	hsa-miR-324-3p	CLIP-seq
MIRT2395242	hsa-miR-326	CLIP-seq
MIRT2395243	hsa-miR-330-5p	CLIP-seq
MIRT2633966	hsa-miR-331-3p	CLIP-seq
MIRT2633967	hsa-miR-3619-5p	CLIP-seq
MIRT2633968	hsa-miR-3672	CLIP-seq
MIRT2633969	hsa-miR-3688-5p	CLIP-seq
MIRT2633970	hsa-miR-3922-5p	CLIP-seq
MIRT2633971	hsa-miR-3937	CLIP-seq
MIRT2633972	hsa-miR-4269	CLIP-seq
MIRT2633973	hsa-miR-4292	CLIP-seq
MIRT2633974	hsa-miR-4300	CLIP-seq
MIRT2633975	hsa-miR-4463	CLIP-seq
MIRT2633976	hsa-miR-4468	CLIP-seq
MIRT2633977	hsa-miR-4487	CLIP-seq
MIRT2633978	hsa-miR-4530	CLIP-seq
MIRT2633979	hsa-miR-4540	CLIP-seq
MIRT2633980	hsa-miR-4660	CLIP-seq
MIRT2633981	hsa-miR-4663	CLIP-seq
MIRT2633982	hsa-miR-4690-5p	CLIP-seq
MIRT1393530	hsa-miR-4710	CLIP-seq
MIRT2633983	hsa-miR-4749-3p	CLIP-seq
MIRT2633984	hsa-miR-4773	CLIP-seq
MIRT1393534	hsa-miR-4792	CLIP-seq
MIRT2633985	hsa-miR-4794	CLIP-seq
MIRT2633986	hsa-miR-5047	CLIP-seq
MIRT2633987	hsa-miR-604	CLIP-seq
MIRT2633988	hsa-miR-647	CLIP-seq
MIRT2633989	hsa-miR-761	CLIP-seq
MIRT2633990	hsa-miR-892b	CLIP-seq
MIRT2633991	hsa-miR-920	CLIP-seq
MIRT2633992	hsa-miR-939	CLIP-seq
MIRT2395244	hsa-miR-942	CLIP-seq
MIRT2633993	hsa-miR-96	CLIP-seq
MIRT2633952	hsa-miR-1184	CLIP-seq
MIRT2633953	hsa-miR-1207-3p	CLIP-seq
MIRT2633955	hsa-miR-1245b-5p	CLIP-seq
MIRT2633956	hsa-miR-1246	CLIP-seq
MIRT2633958	hsa-miR-1301	CLIP-seq
MIRT2692092	hsa-miR-141	CLIP-seq
MIRT2633960	hsa-miR-1913	CLIP-seq
MIRT2692093	hsa-miR-1976	CLIP-seq
MIRT2692094	hsa-miR-200a	CLIP-seq
MIRT1393520	hsa-miR-2861	CLIP-seq
MIRT2692095	hsa-miR-296-5p	CLIP-seq
MIRT2633962	hsa-miR-3064-5p	CLIP-seq
MIRT2633963	hsa-miR-31	CLIP-seq
MIRT2633964	hsa-miR-3142	CLIP-seq
MIRT2692096	hsa-miR-3189-5p	CLIP-seq
MIRT2633965	hsa-miR-324-3p	CLIP-seq
MIRT2633969	hsa-miR-3688-5p	CLIP-seq
MIRT2633970	hsa-miR-3922-5p	CLIP-seq
MIRT2692097	hsa-miR-4270	CLIP-seq
MIRT2633974	hsa-miR-4300	CLIP-seq
MIRT2692098	hsa-miR-4441	CLIP-seq
MIRT2633979	hsa-miR-4540	CLIP-seq
MIRT2692099	hsa-miR-4633-3p	CLIP-seq
MIRT2633980	hsa-miR-4660	CLIP-seq
MIRT1393530	hsa-miR-4710	CLIP-seq
MIRT2692100	hsa-miR-4722-3p	CLIP-seq
MIRT1393541	hsa-miR-4758-3p	CLIP-seq
MIRT2633984	hsa-miR-4773	CLIP-seq
MIRT1393534	hsa-miR-4792	CLIP-seq
MIRT2692101	hsa-miR-483-3p	CLIP-seq
MIRT2633986	hsa-miR-5047	CLIP-seq
MIRT2633987	hsa-miR-604	CLIP-seq
MIRT2692102	hsa-miR-610	CLIP-seq
MIRT2633988	hsa-miR-647	CLIP-seq
MIRT2633991	hsa-miR-920	CLIP-seq
MIRT2633992	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MYC	Activation	22547830

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0003836	Function	Beta-galactoside (CMP) alpha-2,3-sialyltransferase activity	IEA
GO:0003836	Function	Beta-galactoside (CMP) alpha-2,3-sialyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IBA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	TAS
GO:0008118	Function	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	IEA
GO:0008118	Function	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	TAS	8333853
GO:0008373	Function	Sialyltransferase activity	IBA
GO:0008373	Function	Sialyltransferase activity	IEA
GO:0008373	Function	Sialyltransferase activity	TAS
GO:0009312	Process	Oligosaccharide biosynthetic process	TAS
GO:0010706	Process	Ganglioside biosynthetic process via lactosylceramide	IEA
GO:0016020	Component	Membrane	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0018146	Process	Keratan sulfate proteoglycan biosynthetic process	TAS
GO:0019082	Process	Viral protein processing	TAS
GO:0032580	Component	Golgi cisterna membrane	IEA

Other IDs

• MIM: 606494
• HGNC: 10866
• e!Ensembl: ENSG00000126091

Protein

• UniProt ID: Q11203
• Protein name: CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (EC 2.4.3.6) (Beta-galactoside alpha-2,3-sialyltransferase 3) (Alpha 2,3-ST 3) (Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase) (N-acetyllactosaminide alpha-2,3-sialyltransferase
• Protein function: Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest acti
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00777	Glyco_transf_29	107 → 372	Glycosyltransferase family 29 (sialyltransferase)	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver.
• Sequence:

  MGLLVFVRNLLLALCLFLVLGFLYYSAWKLHLLQWEEDSNSVVLSFDSAGQTLGSEYDRL
  GFLLNLDSKLPAELATKYANFSEGACKPGYASALMTAIFPRFSKPAPMFLDDSFRKWARI
  REFVPPFGIKGQDNLIKAILSVTKEYRLTPALDSLRCRRCIIVGNGGVLANKSLGSRIDD
  YDIVVRLNSAPVKGFEKDVGSKTTLRITYPEGAMQRPEQYERDSLFVLAGFKWQDFKWLK
  YIVYKERVSASDGFWKSVATRVPKEPPEIRILNPYFIQEAAFTLIGLPFNNGLMGRGNIP
  TLGSVAVTMALHGCDEVAVAGFGYDMSTPNAPLHYYETVRMAAIKESWTHNIQREKEFLR
  KLVKARVITDLSSGI

• Sequence length: 375

Pathways

KEGG:

Various types of N-glycan biosynthesis
Other types of O-glycan biosynthesis
Mannose type O-glycan biosynthesis
Glycosaminoglycan biosynthesis - keratan sulfate
Glycosphingolipid biosynthesis - lacto and neolacto series
Metabolic pathways

Reactome:

Keratan sulfate biosynthesis
Defective ST3GAL3 causes MCT12 and EIEE15
Sialic acid metabolism
Lewis blood group biosynthesis
Termination of O-glycan biosynthesis

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
Aggressive behavior	Likely pathogenic	rs1201878175	RCV000993574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs148531289, rs2077858180, rs2154197473, rs2154091891, rs1195818093, rs2154270971, rs2522893135, rs2549629250, rs1571524490, rs2527100064, rs2082857900	RCV001863204 RCV001899695 RCV001922497 RCV002018779 RCV001994497 RCV001928129 RCV002829514 RCV002957222 RCV002962288 RCV003589677 RCV003754424 RCV001296941	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 15	Likely pathogenic; Pathogenic	rs148531289, rs200255759, rs1195818093, rs1557563410, rs201204481, rs1387140766	RCV001329554 RCV001823465 RCV003224596 RCV000032792 RCV001290011 RCV002464440	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Difficulty walking	Likely pathogenic	rs1201878175	RCV000993574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frequent falls	Likely pathogenic	rs1201878175	RCV000993574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 12	Likely pathogenic; Pathogenic	rs1195818093, rs387906943, rs1557612719, rs1201878175, rs1387140766	RCV003224596 RCV000023551 RCV000023552 RCV001290010 RCV001549282	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prolonged neonatal jaundice	Likely pathogenic	rs1201878175	RCV000993574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic	rs1201878175	RCV000993574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy due to perinatal stroke	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized myoclonic seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ST3GAL3-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	20824144		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	22959728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22959728	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36405992	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	27217153	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32366953	Stimulate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27217153, 30339835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	29325848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	30339835		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27779707		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12841680	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32872308	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11585423		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	11585423		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10673297	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	31584066		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29221444		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31584066		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	31584066		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15	Epileptic encephalopathy	UNIPROT_DG	23252400		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23252400, 31584066		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile spasms syndrome	Spasms Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21907012, 27217153, 31584066		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	21907012, 27217153	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31584066		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31747460		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21147760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27779707		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31747460		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11587543		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12931020		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27871859		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	11585423		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	34943806, 38274327	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	21907012	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12	Mental retardation	GENOMICS_ENGLAND_DG	17120046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12	Mental retardation	UNIPROT_DG	21907012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12931020		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	11559557		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31584066		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19415457, 31702036	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24878505	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11587543		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22347453, 25137483	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	10393028		★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30339835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	32366953	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12931020		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36172711	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	23252400, 30089820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	ORPHANET_DG	23252400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations