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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	175
Gene name	Aspartylglucosaminidase
Gene symbol	AGA
Synonyms (NCBI Gene)	AGUASRGGA
Chromosome	4
Chromosome location	4q34.3
Summary	This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolis

Show/Hide all (40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121964904	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964905	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964906	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964908	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964909	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs145465919	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs146381591	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs386833419	A>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833420	TCTC>-,TC	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833421	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833422	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833423	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833424	TGTGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833425	GTGT>-,GT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833426	T>C	Likely-pathogenic	Intron variant
rs386833427	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833428	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833430	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833431	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant, splice donor variant
rs386833432	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833433	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833434	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833435	A>-	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs386833436	->A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs386833437	C>A,T	Likely-pathogenic	Splice donor variant
rs745976989	C>T	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs748171793	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs765070743	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs794728009	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs986682657	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517175	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant, intron variant
rs1057517223	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057517329	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1201784742	A>C,G	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs1483909684	T>A,C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553993921	T>C	Likely-pathogenic	Splice acceptor variant
rs1553994755	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553994812	C>A	Likely-pathogenic	Splice donor variant
rs1553994830	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1560950739	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021212	hsa-miR-150-5p	Microarray	20218812
MIRT771553	hsa-miR-106a	CLIP-seq
MIRT771554	hsa-miR-106b	CLIP-seq
MIRT771555	hsa-miR-17	CLIP-seq
MIRT771556	hsa-miR-20a	CLIP-seq
MIRT771557	hsa-miR-20b	CLIP-seq
MIRT771558	hsa-miR-421	CLIP-seq
MIRT771559	hsa-miR-4272	CLIP-seq
MIRT771560	hsa-miR-4803	CLIP-seq
MIRT771561	hsa-miR-513a-3p	CLIP-seq
MIRT771562	hsa-miR-519d	CLIP-seq
MIRT771563	hsa-miR-93	CLIP-seq
MIRT2168469	hsa-miR-101	CLIP-seq
MIRT2168470	hsa-miR-1267	CLIP-seq
MIRT2168471	hsa-miR-1273d	CLIP-seq
MIRT2168472	hsa-miR-144	CLIP-seq
MIRT2168473	hsa-miR-2355-5p	CLIP-seq
MIRT2168474	hsa-miR-3691-3p	CLIP-seq
MIRT2168475	hsa-miR-383	CLIP-seq
MIRT2168476	hsa-miR-4282	CLIP-seq
MIRT2168477	hsa-miR-4477a	CLIP-seq
MIRT2168478	hsa-miR-4729	CLIP-seq
MIRT2168479	hsa-miR-4772-5p	CLIP-seq
MIRT2168480	hsa-miR-495	CLIP-seq
MIRT2168481	hsa-miR-582-5p	CLIP-seq
MIRT2168482	hsa-miR-597	CLIP-seq
MIRT2168483	hsa-miR-660	CLIP-seq
MIRT2168484	hsa-miR-668	CLIP-seq
MIRT2168485	hsa-miR-943	CLIP-seq
MIRT2471055	hsa-miR-1272	CLIP-seq
MIRT2471056	hsa-miR-1322	CLIP-seq
MIRT2471057	hsa-miR-193a-5p	CLIP-seq
MIRT2471058	hsa-miR-3672	CLIP-seq
MIRT2471059	hsa-miR-4468	CLIP-seq
MIRT2471060	hsa-miR-4503	CLIP-seq
MIRT2471061	hsa-miR-4517	CLIP-seq
MIRT2471062	hsa-miR-4522	CLIP-seq
MIRT2471063	hsa-miR-4693-3p	CLIP-seq
MIRT2471064	hsa-miR-4712-3p	CLIP-seq
MIRT2471065	hsa-miR-548ae	CLIP-seq
MIRT2471066	hsa-miR-548aj	CLIP-seq
MIRT2471067	hsa-miR-548am	CLIP-seq
MIRT2471068	hsa-miR-548x	CLIP-seq
MIRT2471069	hsa-miR-568	CLIP-seq
MIRT2471070	hsa-miR-643	CLIP-seq
MIRT2471071	hsa-miR-9	CLIP-seq
MIRT2471057	hsa-miR-193a-5p	CLIP-seq
MIRT2471058	hsa-miR-3672	CLIP-seq
MIRT2471062	hsa-miR-4522	CLIP-seq
MIRT2471071	hsa-miR-9	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IBA
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IDA	1281977
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IEA
GO:0003948	Function	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IMP	1904874
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005737	Component	Cytoplasm	IBA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	8776587
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	8776587
GO:0006508	Process	Proteolysis	IEA
GO:0006517	Process	Protein deglycosylation	IDA	1281977
GO:0006517	Process	Protein deglycosylation	IMP	1904874
GO:0008233	Function	Peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035578	Component	Azurophil granule lumen	TAS

MIM	HGNC	e!Ensembl
613228	318	ENSG00000038002

P20933

Protein name

N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase (EC 3.5.1.26) (Aspartylglucosaminidase) (Glycosylasparaginase) (N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase) [Cleaved into: Glycosylasparaginase alpha chain; Glycosylasparaginase beta chain]

Protein function

Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.

PDB

1APY , 1APZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01112	Asparaginase_2	31 → 336	Asparaginase	Domain

Sequence

MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESG
CAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLE
HTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCG
PYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGTSTNGIKFKIHGRVGDSPI
PGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEF
FGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI

Sequence length

346

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Lysosome		Neutrophil degranulation

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
Aspartylglucosaminuria	Pathogenic; Likely pathogenic	rs2111013273, rs370078048, rs991950983, rs2111022003, rs1560950756, rs2111021475, rs2111015936, rs2111013260, rs2111015862, rs2111021738, rs121964904, rs121964905, rs121964906, rs121964907, rs121964908 View all (71 more)	RCV001389042 RCV001382137 RCV001384971 RCV001383515 RCV001829272 View all (93 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aspartylglucosaminuria, finnish type	Pathogenic	rs121964904	RCV000000243	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Likely pathogenic; Pathogenic	rs121964908	RCV004698463	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic	rs1553993921	RCV005901461	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
AGA-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (72)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acne	Acne	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	22032556, 23701444, 29334164, 30155952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	19373488, 21073542, 22032556, 23701444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	16158823, 17519506, 19820361, 21073542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aspartylglucosamidase (AGA) deficiency	Aspartylglucosaminuria	ORPHANET_DG	11309371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aspartylglucosaminuria	Aspartylglucosaminuria	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29583035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29583035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34006291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	17573785, 1823310, 30099930, 30578783, 8492253, 9647032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	BEFREE	29157049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30986390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36344807	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	16435229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30421138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30421138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30099930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	8492253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ 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
Encephalitis	Encephalitis	BEFREE	28674504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	28342955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Achalasia	BEFREE	28989059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Diseases	Esophageal Diseases	BEFREE	28212976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	20526001, 27471012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	20526001, 27471012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	BEFREE	1740484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28093134, 29736836, 30099108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28346360	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30099930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30878469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30986390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	26509176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	26509176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20842450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28012695, 28193574, 30097041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28386647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10226945, 28116593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	31306801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	30938127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16604350, 28674504, 29074356, 30685393, 30938127		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16604350		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	16604350, 30685393	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	10636980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases, Vascular	Skin Diseases, Vascular	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylolysis	Spondylolysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20842450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	30099930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28839442, 30576642		★★★★★ ★☆☆☆☆ Found in Text Mining only

AGA (aspartylglucosaminidase)