HEXB (hexosaminidase subunit beta)

Gene

• Entrez ID: 3074
• Gene name: Hexosaminidase subunit beta
• Gene symbol: HEXB
• Synonyms (NCBI Gene): ENC-1AS, HEL-248, HEL-S-111
• Chromosome: 5
• Chromosome location: 5q13.3
• Summary: Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-h

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs820878	T>C	Pathogenic, benign	Coding sequence variant, intron variant, missense variant
rs5030731	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Intron variant
rs28942073	C>T	Pathogenic	Coding sequence variant, missense variant
rs121907982	A>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121907983	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121907985	C>T	Pathogenic	Coding sequence variant, missense variant
rs121907986	C>T	Pathogenic	Stop gained, coding sequence variant
rs138914144	C>T	Pathogenic	Stop gained, coding sequence variant
rs147155126	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, intron variant, missense variant
rs201580118	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373979283	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs398123443	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs398123444	AAGTTGTT>-	Pathogenic, uncertain-significance	Intron variant, splice donor variant
rs398123445	CAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123446	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs398123447	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs398123450	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs573447174	T>C,G	Likely-pathogenic, pathogenic	Stop gained, synonymous variant, coding sequence variant, 5 prime UTR variant
rs727503959	G>A,C	Likely-pathogenic	Intron variant
rs753823903	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs761117459	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs761197472	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic, benign	Splice donor variant
rs762892362	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs768438206	T>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs771103635	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs771973471	G>-,GG	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs776476415	TGAG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs779328596	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794727049	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs794727091	GA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs797044644	->CAAGTGCTGTTGG	Pathogenic	Coding sequence variant, frameshift variant
rs886039499	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs892920643	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs967720287	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1007338250	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, intron variant
rs1057518237	->ACCC	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1060499701	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1114167287	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1309123671	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1453919511	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554034423	T>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554034434	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554034447	G>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554034449	G>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554034452	C>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554034505	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1554035308	G>T	Likely-pathogenic	Splice acceptor variant
rs1554036523	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554036638	G>T	Likely-pathogenic	Splice acceptor variant
rs1554036943	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1554037076	ATTTTAATTTAGG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554037120	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554037129	->GAGA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1579950499	T>G	Pathogenic	Stop gained, coding sequence variant
rs1579952143	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1580377105	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1580377261	GCCCCT>CCCCC	Pathogenic	Intron variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030011	hsa-miR-26b-5p	Microarray	19088304
MIRT1044696	hsa-miR-132	CLIP-seq
MIRT1044697	hsa-miR-142-5p	CLIP-seq
MIRT1044698	hsa-miR-212	CLIP-seq
MIRT1044699	hsa-miR-219-5p	CLIP-seq
MIRT1044700	hsa-miR-3613-3p	CLIP-seq
MIRT1044701	hsa-miR-4272	CLIP-seq
MIRT1044702	hsa-miR-4445	CLIP-seq
MIRT1044703	hsa-miR-4666-5p	CLIP-seq
MIRT1044704	hsa-miR-4698	CLIP-seq
MIRT1044705	hsa-miR-4782-3p	CLIP-seq
MIRT1044706	hsa-miR-508-3p	CLIP-seq
MIRT1044707	hsa-miR-548c-3p	CLIP-seq
MIRT1044708	hsa-miR-561	CLIP-seq
MIRT1044709	hsa-miR-607	CLIP-seq
MIRT1044710	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001669	Component	Acrosomal vesicle	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
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IEA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	TAS	8663217
GO:0005515	Function	Protein binding	IPI	16698036, 28514442, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006044	Process	N-acetylglucosamine metabolic process	IEA
GO:0006491	Process	N-glycan processing	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006687	Process	Glycosphingolipid metabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IBA
GO:0006689	Process	Ganglioside catabolic process	IDA	8123671, 8672428
GO:0006689	Process	Ganglioside catabolic process	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007338	Process	Single fertilization	ISS
GO:0007341	Process	Penetration of zona pellucida	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008049	Process	Male courtship behavior	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IDA	25645918
GO:0008375	Function	Acetylglucosaminyltransferase activity	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0009313	Process	Oligosaccharide catabolic process	IEA
GO:0015929	Function	Hexosaminidase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016231	Function	Beta-N-acetylglucosaminidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019222	Process	Regulation of metabolic process	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:0030207	Process	Chondroitin sulfate proteoglycan catabolic process	IEA
GO:0030209	Process	Dermatan sulfate proteoglycan catabolic process	IEA
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042552	Process	Myelination	IEA
GO:0042582	Component	Azurophil granule	IDA	25645918
GO:0042582	Component	Azurophil granule	IEA
GO:0042802	Function	Identical protein binding	IDA	6230359
GO:0042802	Function	Identical protein binding	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	NAS	6458607
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043615	Process	Astrocyte cell migration	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0060473	Component	Cortical granule	IEA
GO:0060473	Component	Cortical granule	ISS
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IEA
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IPI	16698036
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	ISS

Other IDs

• MIM: 606873
• HGNC: 4879
• e!Ensembl: ENSG00000049860

Protein

• UniProt ID: P07686
• Protein name: Beta-hexosaminidase subunit beta (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit beta) (Hexosaminidase subunit B) (Cervical cancer proto-oncogene 7 protein) (HCC-7) (N-acetyl-beta-glucosaminidase subunit beta) [Cleaved into: Beta-hexosaminidase subunit
• 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: 1NOU, 1NOW, 1NP0, 1O7A, 2GJX, 2GK1, 3LMY, 5BRO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14845	Glycohydro_20b2	56 → 178	beta-acetyl hexosaminidase like	Domain
  PF00728	Glyco_hydro_20	200 → 517	Glycosyl hydrolase family 20, catalytic domain	Domain

• Sequence:

  MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP
  LSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA
  KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY
  QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD
  DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
  GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC
  WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI
  VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
  FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG
  IAAQPLYAGYCNHENM

• Sequence length: 556

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 HEXB causes GM2G2
Neutrophil degranulation

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
HEXB-related disorder	Likely pathogenic; Pathogenic	rs28942073	RCV003407272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs121907983	RCV005887274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandhoff disease	Pathogenic; Likely pathogenic	rs1749604779, rs1749680051, rs1749812910, rs1312009126, rs2112175206, rs1306678448, rs1272697701, rs2112180705, rs2112180944, rs2478772082, rs1460801055, rs2112186316, rs2112171738, rs1291555996, rs762821794, rs1352786910, rs2112177192, rs2112175228, rs758459585, rs1749130818, rs2112180614, rs2112135868, rs2112175171, rs2112177114, rs1554036641, rs2112174996, rs2112189087, rs967720287, rs2112188865, rs2112180987, rs2112180739, rs2112156393, rs2112180571, rs121907983, rs1319123888, rs2478764195, rs2478687880, rs2478764227, rs2478760298, rs2478752617, rs2478752327, rs2478687957, rs2478712447, rs2478695232, rs2478771891, rs2478757125, rs777853621, rs2478712407, rs2478687962, rs398123448, rs28942073, rs121907985, rs1580377105, rs121907986, rs797044644, rs1169072396, rs2478777191, rs751488725, rs1212796323, rs754468217, rs1439544901, rs1748946273, rs2478757000, rs2478752679, rs1311903314, rs2478732243, rs2478771894, rs1114167287, rs761197472, rs886039499, rs573447174, rs776476415, rs753823903, rs2478771904, rs2478711473, rs2478773552, rs1416215171, rs2478764201, rs2478687537, rs2478757152, rs1748946983, rs2478752819, rs1203948201, rs770417825, rs5030731, rs1208761835, rs777657769, rs1197449920, rs754942883, rs2478765910, rs2478752812, rs2478752513, rs2478773393, rs762892362, rs373979283, rs1060499701, rs1453919511, rs764552042, rs201580118, rs1554034449, rs1554034452, rs1554036638, rs1554037170, rs1554034423, rs1554034447, rs1554034505, rs779328596, rs763517499, rs1554036523, rs768438206, rs1554036943, rs1554037076, rs1554037129, rs771973471, rs761117459, rs1554035308, rs892920643, rs1309123671, rs1554037120, rs1554037137, rs779273534, rs138914144, rs1007338250, rs1579950499, rs1579952143, rs1554034434, rs1748834145, rs1749049871, rs1749651392, rs775920504, rs1198764997, rs989299922, rs1749130533, rs1324338803, rs778501777, rs1749127843, rs1749847524, rs761240717, rs1748845774, rs1373278959, rs1749803258, rs751592419, rs1748943719, rs1749120310, rs1749130074, rs1749359626, rs1749651571, rs1749652247, rs1354786875, rs1361998528, rs1749739842, rs778226392, rs1554035822, rs398123443, rs398123446	RCV002545035 RCV001381997 RCV001378417 RCV001382863 RCV001382579 RCV001381568 RCV001382002 RCV001386324 RCV001387227 RCV003494058 RCV001383633 RCV001388183 RCV001580726 RCV001732819 RCV003236447 RCV001797888 RCV001984294 RCV001941667 RCV002015164 RCV001932327 RCV001920974 RCV001902454 RCV001958961 RCV001989977 RCV001928798 RCV001922480 RCV002040611 RCV002046604 RCV002020553 RCV001956231 RCV001949467 RCV001952947 RCV001883814 RCV001983432 RCV002243554 RCV002306496 RCV002309840 RCV002309962 RCV002308275 RCV002309205 RCV002309216 RCV002309465 RCV002309533 RCV002306995 RCV002307052 RCV002307068 RCV002307327 RCV002310082 RCV002310382 RCV003087850 RCV000174009 RCV000669552 RCV001238377 RCV002512733 RCV000184012 RCV005089878 RCV002640733 RCV002510393 RCV002594449 RCV002686008 RCV002740583 RCV002819878 RCV002833279 RCV002875685 RCV002871343 RCV002923314 RCV003020686 RCV003033041 RCV000491131 RCV000709991 RCV000668469 RCV000666419 RCV000390326 RCV000286253 RCV003333376 RCV003503918 RCV003503922 RCV003503009 RCV003502347 RCV003502398 RCV003502488 RCV003503384 RCV003610193 RCV003610078 RCV003608730 RCV003608756 RCV000308357 RCV003608832 RCV003610537 RCV003609102 RCV003609651 RCV003609864 RCV003838636 RCV003866406 RCV003880834 RCV004578017 RCV000984275 RCV000669074 RCV000449491 RCV000500181 RCV000502357 RCV000633008 RCV000667714 RCV000671547 RCV000672264 RCV000665204 RCV000674483 RCV000669727 RCV000664552 RCV000669759 RCV000673197 RCV000668508 RCV000670270 RCV000673580 RCV000673828 RCV000669423 RCV000669540 RCV000673881 RCV000674196 RCV000673291 RCV000669675 RCV000674299 RCV000667704 RCV000674128 RCV000671283 RCV000761439 RCV000761558 RCV000781464 RCV000823115 RCV000823847 RCV000985063 RCV001067035 RCV001043436 RCV001053207 RCV001056488 RCV001058264 RCV001038156 RCV001090117 RCV001194423 RCV001193758 RCV001224279 RCV001206614 RCV001233820 RCV001240185 RCV001239339 RCV001244478 RCV001234727 RCV001879821 RCV001264046 RCV001264047 RCV001264048 RCV001264374 RCV001264375 RCV001264376 RCV001264377 RCV001264378 RCV001264379 RCV001264380 RCV001264795 RCV001269215 RCV001004173 RCV000174010 RCV001854394	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sandhoff disease, adult form	Likely pathogenic; Pathogenic	rs28942073, rs121907983, rs1554037088	RCV000004084 RCV000004083 RCV001804177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandhoff disease, chronic	Likely pathogenic; Pathogenic	rs121907985	RCV000004088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandhoff disease, infantile form	Pathogenic	rs5030731, rs1580377105, rs121907986, rs768438206	RCV000004089 RCV000004090 RCV000004091 RCV000004092	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandhoff disease, juvenile form	Likely pathogenic; Pathogenic	rs28942073, rs201580118	RCV000004082 RCV002286417	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEXB POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hexosaminidase B (Paris)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM	Likely benign; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SANDHOFF DISEASE, ADULT TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SANDHOFF DISEASE, INFANTILE TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SANDHOFF DISEASE, JUVENILE TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	22005293		★☆☆☆☆ Found in Text Mining only
Adult Sandhoff Disease	Sandhoff Disease	BEFREE	11897243, 9562328		★☆☆☆☆ Found in Text Mining only
Adult Sandhoff Disease	Sandhoff Disease	ORPHANET_DG	20798201		★☆☆☆☆ Found in Text Mining only
Adult Sandhoff Disease	Sandhoff Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18204279		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	37344817	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31852446	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18042293		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11329012		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35893034, 36800588, 39947398	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	29451896	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31852446	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35893034	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	16710745		★☆☆☆☆ Found in Text Mining only
GM2-GANGLIOSIDOSIS, ADULT	Gangliosidosis	BEFREE	8950198		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	15459180		★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	37327298	Associate	★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	12706724		★☆☆☆☆ Found in Text Mining only
Infantile Sandhoff Disease	Sandhoff Disease	BEFREE	1532910, 7626071, 8076944		★☆☆☆☆ Found in Text Mining only
Infantile Sandhoff Disease	Sandhoff Disease	ORPHANET_DG	20798201		★☆☆☆☆ Found in Text Mining only
Infantile Sandhoff Disease	Sandhoff Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Infantile Sandhoff Disease	Sandhoff Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37327298	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Sandhoff Disease	Sandhoff Disease	BEFREE	1531140, 18930675, 19898952		★☆☆☆☆ Found in Text Mining only
Juvenile Sandhoff Disease	Sandhoff Disease	ORPHANET_DG	20798201		★☆☆☆☆ Found in Text Mining only
Juvenile Sandhoff Disease	Sandhoff Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	22005293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18042293		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11329012		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	11897243, 23127958		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	23127958	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG	7626071		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12682727		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	24613245		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24096133		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12413610		★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff Disease	BEFREE	11292324, 11339652, 12682727, 12706724, 1390948, 1532910, 15459180, 16880605, 18758829, 18930675, 19034545, 19278737, 2147027, 21487393, 21997228, 22191674, 22789865, 22848519, 23046579, 23127958, 23759947, 24613245, 26582265, 27021291, 28575132, 2921040, 30236619, 31340161, 31682993, 8076944, 8950198, 9856491, 9888387		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sandhoff Disease	Sandhoff Disease	CLINVAR_DG	12166653, 1386607, 1531140, 1532910, 17015493, 17237499, 18758829, 19823769, 20798201, 20926324, 21150067, 2147031, 21483992, 21567908, 2170400, 22789865, 22848519, 23010210, 23046579, 23113155, 23127958, 23759947, 24263030, 24356898, 24613245, 2522450, 25525159, 25736553, 26582265, 27021291, 27682710, 29448188, 7550345, 7557963, 8076944, 8162015, 8357844, 8950198, 9475608, 9562328		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sandhoff Disease	Sandhoff disease	Pubtator	12662933, 1386607, 2147027, 22848519, 23127958, 24461908, 3017984, 31852446, 33407268, 34856081, 36142595, 37327298, 37344817, 8950198, 9562328	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sandhoff Disease	Sandhoff Disease	LHGDN	12706724, 15953731, 17251047, 18930675		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sandhoff Disease	Sandhoff Disease	GENOMICS_ENGLAND_DG	1531140, 24263030, 27604308, 7626071		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sandhoff Disease	Sandhoff Disease	UNIPROT_DG	1531140, 1720305, 7557963, 7626071, 7633435, 8357844, 8950198, 9401004, 9694901, 9856491		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sandhoff Disease	Sandhoff Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sandhoff disease, adult form	Sandhoff Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandhoff Disease, Adult Type	Sandhoff Disease	ORPHANET_DG	20798201		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sandhoff Disease, Adult Type	Sandhoff Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SANDHOFF DISEASE, CHRONIC	Sandhoff Disease	BEFREE	9694901		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SANDHOFF DISEASE, CHRONIC	Sandhoff Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandhoff disease, infantile form	Sandhoff Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandhoff Disease, Infantile Type	Sandhoff Disease	ORPHANET_DG	20798201		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sandhoff disease, juvenile form	Sandhoff Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sandhoff Disease, Juvenile Type	Sandhoff Disease	ORPHANET_DG	20798201		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sandhoff Disease, Juvenile Type	Sandhoff Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	23010210		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	1967903	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31852446, 37327298	Associate	★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	11339652, 12706724, 16352452, 21487393, 22789865, 9401004		★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease, AB Variant	Tay-Sachs Disease	BEFREE	11339652		★☆☆☆☆ Found in Text Mining only
Total Hexosaminidase Deficiency	Total Hexosaminidase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only