HEXA (hexosaminidase subunit alpha)

Gene

• Entrez ID: 3073
• Gene name: Hexosaminidase subunit alpha
• Gene symbol: HEXA
• Synonyms (NCBI Gene): TSD
• Chromosome: 15
• Chromosome location: 15q23
• Summary: This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800429	C>T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs28941770	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28941771	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28942071	G>A	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28942072	A>G,T	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs75211071	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs76173977	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs117160567	A>C	Benign, pathogenic	Intron variant
rs121907952	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs121907953	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907954	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907955	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907956	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907957	C>T	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907958	C>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121907959	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907960	GAA>-	Likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs121907961	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907962	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121907963	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs121907966	G>A	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907967	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121907969	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs121907970	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, pathogenic, other	Non coding transcript variant, coding sequence variant, synonymous variant, missense variant
rs121907971	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907972	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907973	T>G	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907974	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907975	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907978	C>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121907980	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs121907981	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs145012038	C>T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs147324677	C>A,G	Likely-pathogenic, pathogenic	Splice donor variant
rs150675340	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs185429231	C>A	Pathogenic	Splice acceptor variant
rs199914308	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs200871198	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200926928	T>C	Pathogenic-likely-pathogenic	Intron variant
rs200936836	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs201497629	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs202173526	G>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs267606862	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs370266293	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs387906309	->GATA	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs387906310	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906311	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs543071358	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs566580738	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs575121167	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs587779406	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant, intron variant
rs587779407	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs747372270	T>A,C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs748190164	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs751248523	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs756040251	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs762060470	C>T	Pathogenic, likely-pathogenic	Intron variant
rs762374961	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs764343937	C>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs766138785	C>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs767041069	C>T	Pathogenic	Intron variant, splice donor variant
rs770932296	C>T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs772180415	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs773446161	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs777042785	AT>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs786204515	->T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs786204585	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs786204754	C>T	Likely-pathogenic	Splice donor variant
rs797044432	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs797044433	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797044434	TCC>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs863225434	T>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs988192535	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Stop gained, intron variant, missense variant, coding sequence variant
rs1057516617	G>A,C	Likely-pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1057516755	TTGA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516850	A>-	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516908	C>G	Likely-pathogenic	Splice acceptor variant
rs1057517174	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519458	AA>-,A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, frameshift variant
rs1057519459	T>G	Pathogenic	Intron variant
rs1057519460	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519461	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519462	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519463	GAACTCAT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519464	T>C,G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1057519465	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1057519466	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057519467	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519468	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057521137	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064794856	G>C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1309204908	C>A,T	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs1555472161	->G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555472262	A>G	Likely-pathogenic	Non coding transcript variant, splice donor variant
rs1555472270	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555472296	C>A	Likely-pathogenic	Splice acceptor variant
rs1555472406	->GGAT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555472432	TT>C	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555472440	CCT>A	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555472553	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1555473070	AG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555473138	->A	Likely-pathogenic	Splice donor variant
rs1567295184	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1595798033	CTTTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1595801740	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1595802191	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028906	hsa-miR-26b-5p	Microarray	19088304
MIRT039954	hsa-miR-615-3p	CLASH	23622248
MIRT664666	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT664665	hsa-miR-4284	HITS-CLIP	23824327
MIRT664664	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT649352	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT649351	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT649350	hsa-miR-5690	HITS-CLIP	23824327
MIRT649349	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT649348	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT649347	hsa-miR-8089	HITS-CLIP	23824327
MIRT649346	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT649344	hsa-miR-6720-3p	HITS-CLIP	23824327
MIRT649345	hsa-miR-4767	HITS-CLIP	23824327
MIRT649343	hsa-miR-566	HITS-CLIP	23824327
MIRT649342	hsa-miR-1908-5p	HITS-CLIP	23824327
MIRT649341	hsa-miR-663a	HITS-CLIP	23824327
MIRT649340	hsa-miR-6787-5p	HITS-CLIP	23824327
MIRT649339	hsa-miR-3175	HITS-CLIP	23824327
MIRT649338	hsa-miR-1343-5p	HITS-CLIP	23824327
MIRT649337	hsa-miR-939-5p	HITS-CLIP	23824327
MIRT649336	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT649335	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT649334	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT649333	hsa-miR-665	HITS-CLIP	23824327
MIRT460742	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT460741	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT460740	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT460738	hsa-miR-3926	PAR-CLIP	23592263
MIRT460739	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT460737	hsa-miR-548s	PAR-CLIP	23592263
MIRT649345	hsa-miR-4767	PAR-CLIP	27292025
MIRT649345	hsa-miR-4767	PAR-CLIP	27292025
MIRT664666	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT664665	hsa-miR-4284	HITS-CLIP	23824327
MIRT664664	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT649352	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT649351	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT649350	hsa-miR-5690	HITS-CLIP	23824327
MIRT649349	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT649348	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT649347	hsa-miR-8089	HITS-CLIP	23824327
MIRT649346	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT649344	hsa-miR-6720-3p	HITS-CLIP	23824327
MIRT649345	hsa-miR-4767	HITS-CLIP	23824327
MIRT649343	hsa-miR-566	HITS-CLIP	23824327
MIRT649342	hsa-miR-1908-5p	HITS-CLIP	23824327
MIRT649341	hsa-miR-663a	HITS-CLIP	23824327
MIRT649340	hsa-miR-6787-5p	HITS-CLIP	23824327
MIRT649339	hsa-miR-3175	HITS-CLIP	23824327
MIRT649338	hsa-miR-1343-5p	HITS-CLIP	23824327
MIRT649337	hsa-miR-939-5p	HITS-CLIP	23824327
MIRT649336	hsa-miR-6825-5p	HITS-CLIP	23824327
MIRT649335	hsa-miR-3150a-3p	HITS-CLIP	23824327
MIRT649334	hsa-miR-6763-5p	HITS-CLIP	23824327
MIRT649333	hsa-miR-665	HITS-CLIP	23824327
MIRT460742	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT460741	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT460740	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT460738	hsa-miR-3926	PAR-CLIP	23592263
MIRT460739	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT460737	hsa-miR-548s	PAR-CLIP	23592263
MIRT1044685	hsa-miR-127-5p	CLIP-seq
MIRT1044686	hsa-miR-15a	CLIP-seq
MIRT1044687	hsa-miR-15b	CLIP-seq
MIRT1044688	hsa-miR-16	CLIP-seq
MIRT1044689	hsa-miR-195	CLIP-seq
MIRT1044690	hsa-miR-3163	CLIP-seq
MIRT1044691	hsa-miR-323-3p	CLIP-seq
MIRT1044692	hsa-miR-424	CLIP-seq
MIRT1044693	hsa-miR-4282	CLIP-seq
MIRT1044694	hsa-miR-451b	CLIP-seq
MIRT1044695	hsa-miR-497	CLIP-seq
MIRT1556506	hsa-miR-4688	CLIP-seq
MIRT1044685	hsa-miR-127-5p	CLIP-seq
MIRT1044686	hsa-miR-15a	CLIP-seq
MIRT1044687	hsa-miR-15b	CLIP-seq
MIRT1044688	hsa-miR-16	CLIP-seq
MIRT1044689	hsa-miR-195	CLIP-seq
MIRT2009740	hsa-miR-3064-3p	CLIP-seq
MIRT1044690	hsa-miR-3163	CLIP-seq
MIRT1044691	hsa-miR-323-3p	CLIP-seq
MIRT1044692	hsa-miR-424	CLIP-seq
MIRT1044693	hsa-miR-4282	CLIP-seq
MIRT1044695	hsa-miR-497	CLIP-seq
MIRT1556506	hsa-miR-4688	CLIP-seq
MIRT2545737	hsa-miR-149	CLIP-seq
MIRT2009740	hsa-miR-3064-3p	CLIP-seq
MIRT2545738	hsa-miR-3065-3p	CLIP-seq
MIRT2545739	hsa-miR-3190	CLIP-seq
MIRT1044691	hsa-miR-323-3p	CLIP-seq
MIRT2545740	hsa-miR-331-3p	CLIP-seq
MIRT2545741	hsa-miR-339-3p	CLIP-seq
MIRT2545742	hsa-miR-4283	CLIP-seq
MIRT2545743	hsa-miR-4435	CLIP-seq
MIRT1556506	hsa-miR-4688	CLIP-seq
MIRT2545744	hsa-miR-4742-5p	CLIP-seq
MIRT2545745	hsa-miR-4768-5p	CLIP-seq
MIRT2545746	hsa-miR-515-5p	CLIP-seq
MIRT2545747	hsa-miR-671-5p	CLIP-seq
MIRT2545737	hsa-miR-149	CLIP-seq
MIRT2009740	hsa-miR-3064-3p	CLIP-seq
MIRT2545738	hsa-miR-3065-3p	CLIP-seq
MIRT2545739	hsa-miR-3190	CLIP-seq
MIRT1044691	hsa-miR-323-3p	CLIP-seq
MIRT2545740	hsa-miR-331-3p	CLIP-seq
MIRT2545741	hsa-miR-339-3p	CLIP-seq
MIRT2545742	hsa-miR-4283	CLIP-seq
MIRT2545743	hsa-miR-4435	CLIP-seq
MIRT1556506	hsa-miR-4688	CLIP-seq
MIRT2545744	hsa-miR-4742-5p	CLIP-seq
MIRT2545745	hsa-miR-4768-5p	CLIP-seq
MIRT2545746	hsa-miR-515-5p	CLIP-seq
MIRT2545747	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IBA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IDA	8123671, 8672428, 9694901
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IEA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	TAS
GO:0005515	Function	Protein binding	IPI	16698036, 28514442, 33961781
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	25645918
GO:0006491	Process	N-glycan processing	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IBA
GO:0006689	Process	Ganglioside catabolic process	IDA	8123671, 8672428, 9694901
GO:0006689	Process	Ganglioside catabolic process	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IDA	25645918
GO:0008375	Function	Acetylglucosaminyltransferase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0019953	Process	Sexual reproduction	IEA
GO:0030203	Process	Glycosaminoglycan metabolic process	IBA
GO:0030203	Process	Glycosaminoglycan metabolic process	IDA	11707436, 25645918
GO:0030203	Process	Glycosaminoglycan metabolic process	IEA
GO:0030209	Process	Dermatan sulfate proteoglycan catabolic process	IEA
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0042552	Process	Myelination	IEA
GO:0042582	Component	Azurophil granule	IDA	25645918
GO:0042582	Component	Azurophil granule	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	NAS	6458607
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046982	Function	Protein heterodimerization activity	IDA	6230359
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IDA	11707436
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IEA
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IPI	16698036

Other IDs

• MIM: 606869
• HGNC: 4878
• e!Ensembl: ENSG00000213614

Protein

• UniProt ID: P06865
• Protein name: Beta-hexosaminidase subunit alpha (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit alpha) (Hexosaminidase subunit A) (N-acetyl-beta-glucosaminidase subunit alpha)
• Protein function: Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, Pub
• PDB: 2GJX, 2GK1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14845	Glycohydro_20b2	23 → 145	beta-acetyl hexosaminidase like	Domain
  PF00728	Glyco_hydro_20	167 → 488	Glycosyl hydrolase family 20, catalytic domain	Domain

• Sequence:

  MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSV
  LDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTI
  NDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHY
  LPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK
  EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF
  MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLL
  DIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPW
  YLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAV
  AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT

• Sequence length: 529

Pathways

KEGG:

Other glycan degradation
Various types of N-glycan biosynthesis
Amino sugar and nucleotide sugar metabolism
Glycosaminoglycan degradation
Sphingolipid metabolism
Glycosphingolipid biosynthesis - globo and isoglobo series
Glycosphingolipid biosynthesis - ganglio series
Metabolic pathways
Lysosome

Reactome:

Glycosphingolipid metabolism
Keratan sulfate degradation
CS/DS degradation
Hyaluronan uptake and degradation
Defective HEXA causes GM2G1

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
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs76173977	RCV005887279	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs76173977	RCV005887280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs121907954, rs76173977	RCV005887276 RCV005887278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Pathogenic	rs121907957	RCV005887277	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs28941770	RCV001255389	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM2-ganglioside accumulation	Pathogenic	rs2542512766	RCV002468899	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gm2-gangliosidosis, adult	Likely pathogenic; Pathogenic	rs121907954	RCV000004104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM2-gangliosidosis, adult-onset	Pathogenic	rs121907966	RCV000004121	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM2-GANGLIOSIDOSIS, B1 VARIANT	Likely pathogenic	rs121907967	RCV000004122	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM2-GANGLIOSIDOSIS, CHRONIC	Likely pathogenic; Pathogenic	rs28942071	RCV000004112	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM2-GANGLIOSIDOSIS, JUVENILE	Likely pathogenic; Pathogenic	rs121907955, rs121907956	RCV000004099 RCV000004105	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs587779406	RCV002243757	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEXA-related disorder	Likely pathogenic; Pathogenic	rs200926928, rs387906309, rs28941770, rs121907954, rs76173977, rs121907980, rs150675340, rs750727201, rs1567295184	RCV004755786 RCV004755708 RCV003964792 RCV003924800 RCV003952341 RCV003944800 RCV003401387 RCV003907933 RCV003983198	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs387906309	RCV001252517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Likely pathogenic; Pathogenic	rs587779406	RCV002243757	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs76173977	RCV005887282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs147324677	RCV005887275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs587779406	RCV002243757	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Likely pathogenic	rs2140328162	RCV005930108	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tay-Sachs disease	Likely pathogenic; Pathogenic	rs2140320821, rs2140322856, rs1216659000, rs2140320741, rs979690054, rs76173977, rs762255098, rs2140329051, rs2140344855, rs587779406, rs587779407, rs2140324174, rs2140319516, rs2140319638, rs2140328176, rs1567297439, rs2140344825, rs2140326761, rs2140344404, rs2140320568, rs2140344667, rs2140322934, rs2140324625, rs2140344619, rs2140319619, rs2140322212, rs2140321846, rs772879726, rs2088601317, rs2140326388, rs2140328162, rs2140324712, rs2542526272, rs2542526335, rs2542528224, rs121907958, rs2542540049, rs777460475, rs2542523154, rs2542534160, rs2542523123, rs1379381861, rs2542523032, rs2088612933, rs2542540160, rs2542514045, rs2542581414, rs2542582237, rs2542537779, rs786204585, rs777042785, rs766138785, rs200926928, rs786204515, rs121907960, rs786204754, rs786204721, rs2542505710, rs2542510037, rs1188885214, rs2542537863, rs387906309, rs147324677, rs121907952, rs797044432, rs797044433, rs121907955, rs28941770, rs121907953, rs121907954, rs121907956, rs121907957, rs121907959, rs121907962, rs121907963, rs28942071, rs121907961, rs2542532770, rs121907964, rs121907965, rs121907966, rs121907967, rs1595801740, rs121907969, rs121907971, rs121907972, rs387906311, rs121907974, rs121907975, rs1057519458, rs121907978, rs121907979, rs267606862, rs121907980, rs28941771, rs121907981, rs1239101618, rs377234974, rs2542522575, rs1734738637, rs2542582814, rs1309204908, rs2542514324, rs1057517348, rs2542509635, rs2542534202, rs2542520322, rs863225434, rs748190164, rs370266293, rs1190309903, rs772180415, rs2542520435, rs2542520312, rs2140324697, rs2542582180, rs2542514054, rs2542520518, rs2542514275, rs2542532585, rs2542518955, rs866773167, rs2542522531, rs2542581249, rs2542512987, rs2542581524, rs2088733143, rs2542523070, rs2542526228, rs1316946673, rs1403162016, rs779456035, rs547177633, rs1595816410, rs2542582204, rs2542512849, rs2542514845, rs2542520432, rs2088660373, rs2542522978, rs2542520335, rs2542520561, rs762374961, rs767041069, rs1057516617, rs1057516755, rs1057516908, rs150675340, rs1057516850, rs1057517174, rs770093080, rs1057516957, rs1057516640, rs751393950, rs1057517296, rs769370282, rs762060470, rs1057519468, rs1057519467, rs1057519466, rs1057519465, rs1057519464, rs1057519463, rs1057519461, rs543071358, rs1057519460, rs764343937, rs1057519459, rs773446161, rs987036804, rs387906949, rs1555472406, rs1064794856, rs769035623, rs759092928, rs566580738, rs1407480461, rs1555472161, rs1555472262, rs759219683, rs1555473138, rs988192535, rs758166013, rs1002712424, rs1555472432, rs1555472440, rs1555473070, rs770628999, rs556872918, rs751546658, rs1555472270, rs1555472296, rs750727201, rs1555472553, rs756040251, rs1555475498, rs745996955, rs1555475519, rs751248523, rs185429231, rs1567295184, rs1595802191, rs780134593, rs1595798033, rs2088785055, rs2088783222, rs2088733629, rs2088664194, rs2088620169, rs770303210, rs1282031681, rs2088690482, rs2088733862, rs2088765656, rs2088690227, rs2088785868, rs987921756, rs1177678117, rs2088721832, rs2088635332, rs1415609256, rs2088635505, rs2088635583, rs1322698222, rs2088660599, rs2088732981, rs2088766427, rs2088784856, rs2088724288, rs2089059318	RCV001378981 RCV001379765 RCV001388717 RCV001380301 RCV001381293 RCV001390151 RCV001388252 RCV001388869 RCV001391003 RCV000087095 RCV000087096 RCV002568266 RCV001553631 RCV001805763 RCV002004940 RCV001937008 RCV001965462 RCV002019285 RCV001953746 RCV001889538 RCV001989829 RCV001874504 RCV001928765 RCV002000073 RCV001994458 RCV001995718 RCV002002545 RCV001941601 RCV001959076 RCV002022381 RCV001962601 RCV003502613 RCV002275722 RCV003149021 RCV002306612 RCV002309679 RCV002309775 RCV002309828 RCV002309955 RCV002308093 RCV002308175 RCV002308308 RCV002309008 RCV002309233 RCV002307010 RCV002310142 RCV002310235 RCV002310366 RCV002310428 RCV002310445 RCV000169328 RCV000169438 RCV000169594 RCV000169296 RCV000169207 RCV000169148 RCV000169610 RCV000169541 RCV003058479 RCV003064288 RCV003041243 RCV003064289 RCV000004093 RCV000004094 RCV000004096 RCV000004097 RCV000004098 RCV000409695 RCV000409508 RCV000416435 RCV000168285 RCV000338961 RCV000004106 RCV000004107 RCV002226437 RCV000004110 RCV000004111 RCV000169084 RCV000004114 RCV000004116 RCV000004117 RCV000004118 RCV000004120 RCV000169417 RCV002281692 RCV000004124 RCV000004125 RCV000004126 RCV000801596 RCV000004131 RCV000412214 RCV000004135 RCV000004136 RCV000004138 RCV000004140 RCV000004141 RCV000004142 RCV000409276 RCV002512735 RCV001244261 RCV003082780 RCV002640625 RCV002629749 RCV002631722 RCV002761382 RCV002780783 RCV002832926 RCV002833259 RCV002834041 RCV002857792 RCV002975572 RCV000202369 RCV000203235 RCV000202576 RCV003005692 RCV000207246 RCV000207019 RCV003111523 RCV003226682 RCV003405194 RCV003486395 RCV003502866 RCV003503795 RCV003503637 RCV003503605 RCV003504438 RCV003502015 RCV003502016 RCV003502017 RCV003502035 RCV003502397 RCV003502986 RCV003503292 RCV003503269 RCV003503330 RCV003609380 RCV003609471 RCV003610131 RCV003610345 RCV003610445 RCV003608707 RCV003608718 RCV003610898 RCV003609860 RCV003609759 RCV003825713 RCV003879701 RCV005101470 RCV004566547 RCV000409611 RCV000410148 RCV000411081 RCV000411211 RCV000411061 RCV000411560 RCV000411940 RCV000411678 RCV000411110 RCV000411228 RCV000410519 RCV000410898 RCV000412167 RCV000409696 RCV000409425 RCV000416449 RCV000416424 RCV000416475 RCV000416429 RCV000416471 RCV000416427 RCV000416466 RCV000416413 RCV000416460 RCV000416443 RCV000416415 RCV000416461 RCV000416473 RCV000416480 RCV000416426 RCV000416465 RCV000416452 RCV000780337 RCV000023580 RCV000477853 RCV000675092 RCV000984274 RCV000586741 RCV000586108 RCV003502538 RCV000625807 RCV005091832 RCV000633126 RCV000674778 RCV000669592 RCV000674291 RCV000672317 RCV000666873 RCV000668656 RCV000672016 RCV000669977 RCV000670361 RCV000674074 RCV000671720 RCV000665014 RCV000673289 RCV000667519 RCV000665649 RCV000670413 RCV000671879 RCV000666442 RCV000671552 RCV000670916 RCV000673173 RCV000671551 RCV000672344 RCV000669445 RCV000669356 RCV000673606 RCV000681660 RCV000689539 RCV000758203 RCV000758204 RCV000798879 RCV000820139 RCV000810754 RCV001860588 RCV001058419 RCV001044511 RCV001071648 RCV001044397 RCV001261543 RCV001174718 RCV001175332 RCV001175333 RCV001193757 RCV001193756 RCV001216462 RCV001204941 RCV001213868 RCV001235741 RCV001240277 RCV001260246 RCV001263877 RCV001263878 RCV001263879 RCV001263880 RCV001263881 RCV001264041 RCV001264042 RCV001264043 RCV001264044 RCV001264045 RCV001264519 RCV001269254	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tay-Sachs disease, B1 variant	Likely pathogenic; Pathogenic	rs28941770, rs121907953, rs797044434, rs121907971	RCV000004100 RCV000004102 RCV000004127 RCV000004130	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TAY-SACHS DISEASE, JUVENILE	Likely pathogenic; Pathogenic	rs121907959	RCV000004108	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tay-Sachs disease, variant AB	Pathogenic	rs387906309	RCV001250227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs76173977	RCV005887281	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	Benign; Likely benign; other	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BETA-HEXOSAMINIDASE SUBUNIT ALPHA DEFICIENCY, ADULT FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-HEXOSAMINIDASE SUBUNIT ALPHA DEFICIENCY, INFANTILE FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	-; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM2-GANGLIOSIDOSIS, VARIANT B1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Benign; Likely benign; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE GM2 GANGLIOSIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAY-SACHS DISEASE, AB VARIANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAY-SACHS DISEASE, ADULT FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAY-SACHS DISEASE, INFANTILE FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAY-SACHS DISEASE, JUVENILE FORM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAY-SACHS DISEASE, VARIANT B1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	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
Amaurotic Familial Idiocy	Amaurotic Idiocy	CTD_human_DG	11392526		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	7973467		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31634902		★☆☆☆☆ Found in Text Mining only
BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	PSEUDODEFICIENCY OF BETA-HEXOSAMINIDASE A	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cystic Fibrosis	Cystic Fibrosis	BEFREE	14769930		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG	1532289, 22723944, 23852624, 27896118, 9150157		★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	28197938		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	29795570, 7973467		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	16710745		★☆☆☆☆ Found in Text Mining only
GM2-GANGLIOSIDOSIS, ADULT	Gangliosidosis	BEFREE	9153525		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM2-GANGLIOSIDOSIS, ADULT	Gangliosidosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM2-GANGLIOSIDOSIS, ADULT-ONSET	Gangliosidosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GM2-GANGLIOSIDOSIS, LATE ONSET	Gangliosidosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
GM2-GANGLIOSIDOSIS, SUBACUTE	SUBACUTE GANGLIOSIDOSIS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gm2-Gangliosidosis, Variant B1	Gangliosidosis	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gm2-Gangliosidosis, Variant B1	Gangliosidosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hexosaminidase A Deficiency, Adult Type	Hexosaminidase A Deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hexosaminidase alpha-Subunit Deficiency (Variant B)	Tay-Sachs disease	CTD_human_DG	11392526		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	7973467		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	1355703		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27218255	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile GM 2 gangliosidosis	Gangliosidosis	BEFREE	18648917		★☆☆☆☆ Found in Text Mining only
Juvenile GM 2 gangliosidosis	Gangliosidosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	9153525		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	7973467		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24389457		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	941901	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12108829, 15714079, 16088929, 16199656, 17412732, 19330222, 19858779, 22025593, 3754980, 8230592, 9073025		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	23535491	Associate	★☆☆☆☆ Found in Text Mining only
Mucolipidosis Type IV	Mucolipidosis	BEFREE	23535491		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20100466, 31293106, 9536087		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28506319		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31917448	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23535491		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24189015	Inhibit	★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12413610		★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff Disease	BEFREE	11339652, 20571546, 21997228, 22789865		★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff Disease	LHGDN	15953731		★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff disease	Pubtator	36142595	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	9153525		★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	CLINVAR_DG	10083731, 10571007, 11161796, 11463833, 12027830, 12180151, 12202988, 1301190, 1301938, 1302612, 1307230, 1322637, 1384323, 1387685, 14566483, 14577003, 14727180, 1483696, 1532289, 15714079, 16088929, 16352452, 16698036, 16948947, 17015493, 17237499, 1825014, 1827944, 1827945, 1830584, 1831451, 1832817, 1833974, 18358410, 1837283, 18490185, 19091716, 19858779, 20100466, 20363167, 20672374, 21228398, 2140574, 2141777, 21567908, 21796138, 21967858, 2220809, 22344438, 22390110, 22441121, 22723944, 22789865, 22975760, 23035047, 23852624, 24374108, 24498621, 24518553, 24767253, 24940364, 2522679, 25287655, 25525159, 25557439, 25606403, 26633545, 27033294, 27896118, 27959697, 2837213, 2848800, 28503624, 28739864, 2934978, 2961848, 2970528, 2973464, 3362213, 3375249, 3837850, 6236221, 6959123, 7551830, 7749419, 7827134, 7837766, 7858168, 8044648, 8328462, 8444467, 8445615, 8484765, 8490625, 8730294, 9090529, 9150157, 9222766, 9272736, 9338583, 9851891		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	10464605, 10806593, 10852376, 11339652, 11463833, 1301190, 1301938, 1322637, 1384323, 14727180, 1483696, 16088929, 1833974, 18693054, 19858779, 20100466, 20363167, 22441121, 22723944, 22789865, 27362553, 27682588, 27879213, 29795570, 29973161, 30220252, 30341570, 30506202, 31076878, 31293106, 31388111, 7551830, 7717398, 7887427, 7937929, 8326491, 8343225, 8995368, 9218358, 9272736, 9338583, 9401008		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tay-Sachs Disease	Tay-Sachs Disease	CTD_human_DG	11392526		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tay-Sachs Disease	Tay-Sachs Disease	UNIPROT_DG	1301189, 1301190, 1302612, 14566483, 1532289, 1837283, 2140574, 2144098, 22723944, 2522679, 27682588, 2970528, 7717398, 7837766, 7898712, 7951261, 8445615, 8490625, 8581357, 8757036, 9150157, 9338583, 9375850, 9401008, 9603435		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tay-Sachs Disease	Tay-Sachs Disease	GENOMICS_ENGLAND_DG	14972652, 18642377, 24357685, 27033294, 27604308, 8490625		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tay-Sachs Disease	Tay-Sachs Disease	LHGDN	16088929, 18425478		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tay-Sachs Disease, AB Variant	Tay-Sachs Disease	BEFREE	11339652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tay-Sachs disease, B variant, adult form	Tay-Sachs Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Tay-Sachs disease, B variant, infantile form	Tay-Sachs Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Tay-Sachs disease, B variant, juvenile form	Tay-Sachs Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Tay-Sachs disease, B1 variant	Tay-Sachs Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tay-Sachs Disease, Juvenile	Tay-Sachs Disease	BEFREE	20363167		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tay-Sachs Disease, Juvenile	Tay-Sachs Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TAY-SACHS DISEASE, JUVENILE/ADULT	Tay-Sachs disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease, Variant B1	Tay-Sachs Disease	BEFREE	28923328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tay-Sachs Disease, Variant B1	Tay-Sachs Disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tay-Sachs Disease, Variant B1	Tay-Sachs Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations